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Gene: IMMP1L (inner mitochondrial membrane peptidase subunit 1) Homo sapiens

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Symbol:

IMMP1L

Name:

inner mitochondrial membrane peptidase subunit 1

RGD ID:

1601711

HGNC Page

HGNC:26317

Description:

Predicted to enable serine-type endopeptidase activity. Predicted to be involved in protein processing involved in protein targeting to mitochondrion. Located in mitochondrion.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ25059; IMMP1; IMP1; IMP1 inner mitochondrial membrane peptidase-like; IMP1-LIKE; mitochondrial inner membrane protease subunit 1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

IMMP1LP1 IMMP1LP2 IMMP1LP3

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	31,432,401 - 31,509,645 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	31,453,948 - 31,531,169 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	31,410,525 - 31,487,745 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	31,601,371 - 31,678,615 (-)	NCBI		Celera
Cytogenetic Map	11	p13	NCBI
HuRef	11	31,148,356 - 31,225,919 (-)	NCBI		HuRef
CHM1_1	11	31,453,476 - 31,530,721 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

aniridia (IAGP)

aniridia 1 (IAGP)

Denys-Drash syndrome (IAGP)

intellectual disability (IAGP)

schizophrenia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

14-Deoxy-11,12-didehydroandrographolide (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

Aroclor 1254 (ISO)

arsane (EXP)

arsenic atom (EXP)

atrazine (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

carbon nanotube (ISO)

clothianidin (EXP)

copper(II) sulfate (EXP)

coumestrol (EXP)

cyclosporin A (EXP)

dicrotophos (EXP)

dorsomorphin (EXP)

epoxiconazole (ISO)

folic acid (ISO)

manganese atom (EXP)

manganese(0) (EXP)

manganese(II) chloride (EXP)

methylmercury chloride (EXP)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (EXP)

pirinixic acid (ISO)

potassium chromate (EXP)

quercetin (EXP)

resveratrol (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

tetrachloromethane (ISO)

thimerosal (EXP)

trichostatin A (EXP)

tris(2-butoxyethyl) phosphate (EXP)

valproic acid (EXP)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

protein processing involved in protein targeting to mitochondrion (IBA)

proteolysis (IEA)

signal peptide processing (IEA,NAS)

Cellular Component

membrane (IEA)

mitochondrial inner membrane (IEA,NAS)

mitochondrial inner membrane peptidase complex (IBA,NAS)

mitochondrion (HTP,IDA,IEA,ISS)

Molecular Function

hydrolase activity (IEA)

peptidase activity (IEA)

serine-type endopeptidase activity (IEA)

serine-type peptidase activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

presequence pathway of mitochondrial protein import (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Intellectual disability (IAGP)

Schizophrenia (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Processing of mitochondrial presequences.	Mossmann D, etal., Biochim Biophys Acta. 2012 Sep-Oct;1819(9-10):1098-106. doi: 10.1016/j.bbagrm.2011.11.007. Epub 2011 Dec 7.
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:14702039	PMID:15489334	PMID:15814844	PMID:16344560	PMID:16554811	PMID:19913121	PMID:20628086	PMID:21873635	PMID:25027321	PMID:26186194	PMID:28514442
PMID:31617661	PMID:32443488	PMID:33845483	PMID:33961781	PMID:34079125	PMID:34800366

Genomics

Comparative Map Data

IMMP1L
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	31,432,401 - 31,509,645 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	31,453,948 - 31,531,169 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	31,410,525 - 31,487,745 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	11	31,601,371 - 31,678,615 (-)	NCBI		Celera
Cytogenetic Map	11	p13	NCBI
HuRef	11	31,148,356 - 31,225,919 (-)	NCBI		HuRef
CHM1_1	11	31,453,476 - 31,530,721 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI		T2T-CHM13v2.0

Immp1l
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	105,735,013 - 105,795,904 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	105,734,983 - 105,795,903 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	105,904,638 - 105,965,558 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	105,904,638 - 105,965,558 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	105,744,795 - 105,805,715 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	105,705,524 - 105,768,025 (+)	NCBI		MGSCv36	mm8
Celera	2	107,127,142 - 107,181,499 (+)	NCBI		Celera
Cytogenetic Map	2	E3	NCBI
cM Map	2	55.43	NCBI

Immp1l
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	112,840,015 - 112,904,297 (+)	NCBI		GRCr8
mRatBN7.2	3	92,385,329 - 92,449,559 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	92,385,379 - 92,452,313 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	95,881,218 - 95,945,313 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	104,480,148 - 104,544,243 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	102,308,165 - 102,372,323 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	95,955,126 - 96,024,316 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	95,959,703 - 96,024,836 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	102,575,250 - 102,646,194 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	91,408,864 - 91,436,603 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	91,434,869 - 91,498,889 (+)	NCBI		Celera
Cytogenetic Map	3	q33	NCBI

Immp1l
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955476	9,784,838 - 9,850,091 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955476	9,784,838 - 9,850,076 (-)	NCBI	ChiLan1.0	ChiLan1.0

IMMP1L
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	33,642,647 - 33,719,978 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	33,647,146 - 33,724,483 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	31,396,011 - 31,473,342 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	31,285,619 - 31,362,866 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	31,285,619 - 31,362,843 (-)	Ensembl	panpan1.1		panPan2

IMMP1L
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	35,880,278 - 35,963,128 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	18	35,880,183 - 35,963,494 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	35,529,405 - 35,612,247 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	36,524,425 - 36,607,191 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	36,524,319 - 36,607,242 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	36,097,808 - 36,180,183 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	35,679,026 - 35,761,612 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	36,314,293 - 36,397,070 (+)	NCBI		UU_Cfam_GSD_1.0

Immp1l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	33,091,418 - 33,164,763 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936533	6,216,225 - 6,289,554 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936533	6,216,254 - 6,289,554 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

IMMP1L
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	29,230,210 - 29,307,210 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	29,230,172 - 29,305,906 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	31,737,387 - 31,813,219 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

IMMP1L
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	33,679,133 - 33,757,924 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	33,710,582 - 33,756,884 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	130,842,507 - 130,926,241 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Immp1l
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624766	20,285,362 - 20,343,659 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624766	20,279,082 - 20,343,857 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in IMMP1L
20 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	copy number loss	See cases [RCV000052648]	Chr11:22550115..38199159 [GRCh38] Chr11:22571661..38220709 [GRCh37] Chr11:22528237..38177285 [NCBI36] Chr11:11p14.3-12	pathogenic
GRCh38/hg38 11p13(chr11:31096480-31726083)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052649]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052649]\|See cases [RCV000052649]	Chr11:31096480..31726083 [GRCh38] Chr11:31118027..31747631 [GRCh37] Chr11:31074603..31704207 [NCBI36] Chr11:11p13	pathogenic
GRCh38/hg38 11p13(chr11:31500417-31539732)x1	copy number loss	See cases [RCV000052650]	Chr11:31500417..31539732 [GRCh38] Chr11:31521964..31561279 [GRCh37] Chr11:31478540..31517855 [NCBI36] Chr11:11p13	pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3	copy number gain	See cases [RCV000053613]	Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13	pathogenic
NM_144981.2(IMMP1L):c.10G>A (p.Gly4Ser)	single nucleotide variant	Malignant melanoma [RCV000069320]	Chr11:31463267 [GRCh38] Chr11:31484814 [GRCh37] Chr11:31441390 [NCBI36] Chr11:11p13	not provided
GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	copy number loss	See cases [RCV000135295]	Chr11:26368962..35252976 [GRCh38] Chr11:26390509..35274523 [GRCh37] Chr11:26347085..35231099 [NCBI36] Chr11:11p14.2-13	pathogenic
GRCh38/hg38 11p13(chr11:31299323-31790071)x1	copy number loss	See cases [RCV000135618]	Chr11:31299323..31790071 [GRCh38] Chr11:31320870..31811619 [GRCh37] Chr11:31277446..31768195 [NCBI36] Chr11:11p13	pathogenic
GRCh38/hg38 11p13(chr11:31299323-31726083)x1	copy number loss	See cases [RCV000136946]	Chr11:31299323..31726083 [GRCh38] Chr11:31320870..31747631 [GRCh37] Chr11:31277446..31704207 [NCBI36] Chr11:11p13	uncertain significance
GRCh38/hg38 11p13(chr11:31070635-31535274)x1	copy number loss	See cases [RCV000137512]	Chr11:31070635..31535274 [GRCh38] Chr11:31092182..31556821 [GRCh37] Chr11:31048758..31513397 [NCBI36] Chr11:11p13	uncertain significance
GRCh38/hg38 11p13(chr11:31189295-31701133)x1	copy number loss	See cases [RCV000139992]	Chr11:31189295..31701133 [GRCh38] Chr11:31210842..31722681 [GRCh37] Chr11:31167418..31679257 [NCBI36] Chr11:11p13	pathogenic
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	copy number loss	See cases [RCV000142499]	Chr11:20079474..34463996 [GRCh38] Chr11:20101020..34485543 [GRCh37] Chr11:20057596..34442119 [NCBI36] Chr11:11p15.1-13	pathogenic
NC_000011.10:g.31130456_31671718del	deletion	Congenital aniridia [RCV000257311]	Chr11:31130456..31671718 [GRCh38] Chr11:31152003..31693266 [GRCh37] Chr11:31108579..31649842 [NCBI36] Chr11:11p13	pathogenic
NC_000011.10:g.30896521_31676711del	deletion	Congenital aniridia [RCV000257640]	Chr11:30896521..31676711 [GRCh38] Chr11:30918066..31698257 [GRCh37] Chr11:30874642..31654833 [NCBI36] Chr11:11p14.1-13	pathogenic
NC_000011.8:g.31199000_31914000del715001	deletion	Congenital aniridia [RCV000257713]	Chr11:31242424..31957424 [GRCh37] Chr11:31199000..31914000 [NCBI36] Chr11:11p13	pathogenic
NC_000011.10:g.30988877_31725876del	deletion	Congenital aniridia [RCV000256800]	Chr11:30988877..31725876 [GRCh38] Chr11:31010424..31747424 [GRCh37] Chr11:30967000..31704000 [NCBI36] Chr11:11p14.1-13	pathogenic
NC_000011.10:g.31256273_31773692del	deletion	Congenital aniridia [RCV000257783]	Chr11:31256273..31773692 [GRCh38] Chr11:31277819..31795239 [GRCh37] Chr11:31234395..31751815 [NCBI36] Chr11:11p13	pathogenic
NC_000011.10:g.31400877_31729876del	deletion	Congenital aniridia [RCV000256906]	Chr11:31400877..31729876 [GRCh38] Chr11:31422424..31751424 [GRCh37] Chr11:31379000..31708000 [NCBI36] Chr11:11p13	pathogenic
NC_000011.8:g.31199000_31849000del650001	deletion	Congenital aniridia [RCV000257160]	Chr11:31242424..31892424 [GRCh37] Chr11:31199000..31849000 [NCBI36] Chr11:11p13	pathogenic
GRCh37/hg19 11p13(chr11:31312348-31454239)x1	copy number loss	See cases [RCV000240129]	Chr11:31312348..31454239 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p13(chr11:31531033-31541745)x1	copy number loss	See cases [RCV000239794]	Chr11:31531033..31541745 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p13(chr11:31284306-32458309)x1	copy number loss	See cases [RCV000240076]	Chr11:31284306..32458309 [GRCh37] Chr11:11p13	pathogenic
GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	copy number loss	See cases [RCV000240268]	Chr11:30615127..40606139 [GRCh37] Chr11:11p14.1-12	pathogenic
GRCh37/hg19 11p13(chr11:31495213-31561481)x3	copy number gain	See cases [RCV000240251]	Chr11:31495213..31561481 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p13(chr11:31210842-35436121)x1	copy number loss	See cases [RCV000446864]	Chr11:31210842..35436121 [GRCh37] Chr11:11p13	pathogenic
GRCh37/hg19 11p13(chr11:31438509-31653901)	copy number loss	See cases [RCV000446415]	Chr11:31438509..31653901 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	copy number loss	Aniridia 1 [RCV000420782]	Chr11:18536224..31923308 [GRCh37] Chr11:11p15.1-13	pathogenic
GRCh37/hg19 11p13(chr11:31186493-31698208)x1	copy number loss	Aniridia 1 [RCV000445122]	Chr11:31186493..31698208 [GRCh37] Chr11:11p13	pathogenic
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome [RCV000435400]	Chr11:21586131..33168232 [GRCh37] Chr11:11p15.1-13	pathogenic
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1	copy number loss	See cases [RCV000445800]	Chr11:29238811..45494063 [GRCh37] Chr11:11p14.1-11.2	pathogenic
GRCh37/hg19 11p13(chr11:31147306-31714853)x1	copy number loss	Aniridia 1 [RCV000426648]	Chr11:31147306..31714853 [GRCh37] Chr11:11p13	pathogenic
GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1	copy number loss	11p partial monosomy syndrome [RCV000433834]	Chr11:29750813..32752091 [GRCh37] Chr11:11p14.1-13	pathogenic
GRCh37/hg19 11p13(chr11:31083877-31704548)x1	copy number loss	Aniridia 1 [RCV000427112]	Chr11:31083877..31704548 [GRCh37] Chr11:11p13	pathogenic
GRCh37/hg19 11p14.1-13(chr11:27895487-34494489)x1	copy number loss	See cases [RCV000448524]	Chr11:27895487..34494489 [GRCh37] Chr11:11p14.1-13	pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3	copy number gain	See cases [RCV000448603]	Chr11:26574629..50508019 [GRCh37] Chr11:11p14.2-11.12	pathogenic
GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	copy number loss	See cases [RCV000512014]	Chr11:25771208..35614978 [GRCh37] Chr11:11p14.3-13	pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	copy number gain	See cases [RCV000511561]	Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12	pathogenic
GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	copy number loss	See cases [RCV000511434]	Chr11:27588560..41770792 [GRCh37] Chr11:11p14.1-12	pathogenic\|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	copy number gain	See cases [RCV000512477]	Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13	pathogenic
Single allele	deletion	not provided [RCV000677913]	Chr11:31290802..31432693 [GRCh38] Chr11:31312348..31454239 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p13(chr11:31325456-31501794)x1	copy number loss	not provided [RCV000683312]	Chr11:31325456..31501794 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p13(chr11:31351185-31573646)x3	copy number gain	not provided [RCV000683318]	Chr11:31351185..31573646 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p13(chr11:31466566-31714871)x1	copy number loss	not provided [RCV000683321]	Chr11:31466566..31714871 [GRCh37] Chr11:11p13	likely pathogenic
GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	copy number loss	not provided [RCV000683364]	Chr11:29883001..33865721 [GRCh37] Chr11:11p14.1-13	pathogenic
NC_000011.9:g.(?_31284590)_(32456911_?)del	deletion	Aniridia 1 [RCV000708019]\|Drash syndrome [RCV001386651]	Chr11:31284590..32456911 [GRCh37] Chr11:11p13	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p14.3-12(chr11:24469451-37524085)x1	copy number loss	not provided [RCV000737457]	Chr11:24469451..37524085 [GRCh37] Chr11:11p14.3-12	pathogenic
GRCh37/hg19 11p14.3-13(chr11:25196998-34196484)x1	copy number loss	not provided [RCV000737466]	Chr11:25196998..34196484 [GRCh37] Chr11:11p14.3-13	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NC_000011.10:g.(?_31405793)_(31548667_?)del	deletion	Schizophrenia [RCV000754125]	Chr11:31405793..31548667 [GRCh38] Chr11:11p13	likely pathogenic
GRCh37/hg19 11p14.2-13(chr11:27154853-33302474)x1	copy number loss	not provided [RCV000749997]	Chr11:27154853..33302474 [GRCh37] Chr11:11p14.2-13	pathogenic
NC_000011.9:g.(?_31284590)_(31832374_?)del	deletion	Aniridia 1 [RCV000801986]	Chr11:31284590..31832374 [GRCh37] Chr11:11p13	pathogenic
GRCh37/hg19 11p13(chr11:31416012-31822354)x1	copy number loss	not provided [RCV000846720]	Chr11:31416012..31822354 [GRCh37] Chr11:11p13	pathogenic
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	copy number loss	not provided [RCV000849589]	Chr11:22079154..35597645 [GRCh37] Chr11:11p14.3-13	pathogenic
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	copy number gain	not provided [RCV001006372]	Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	copy number gain	not provided [RCV001006387]	Chr11:11053978..34732891 [GRCh37] Chr11:11p15.3-13	pathogenic
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
NC_000011.9:g.(?_31284590)_(31824402_?)del	deletion	Aniridia 1 [RCV001385451]	Chr11:31284590..31824402 [GRCh37] Chr11:11p13	pathogenic
GRCh37/hg19 11p13(chr11:31415634-31790329)x1	copy number loss	not provided [RCV001827931]	Chr11:31415634..31790329 [GRCh37] Chr11:11p13	likely pathogenic
NC_000011.9:g.(?_31284610)_(31828475_?)del	deletion	Aniridia 1 [RCV001959123]	Chr11:31284610..31828475 [GRCh37] Chr11:11p13	pathogenic
NC_000011.9:g.(?_30253450)_(32460464_?)del	deletion	not provided [RCV003113910]	Chr11:30253450..32460464 [GRCh37] Chr11:11p14.1-13	uncertain significance
NC_000011.9:g.(?_31284610)_(31671789_?)del	deletion	not provided [RCV003119949]	Chr11:31284610..31671789 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1	copy number loss	not provided [RCV002265529]	Chr11:27547893..31656604 [GRCh37] Chr11:11p14.1-13	not provided
GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	copy number loss	not provided [RCV002472502]	Chr11:31372721..38259316 [GRCh37] Chr11:11p13-12	pathogenic
NM_001304274.2(IMMP1L):c.76G>C (p.Ala26Pro)	single nucleotide variant	not specified [RCV004138775]	Chr11:31463201 [GRCh38] Chr11:31484748 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.221C>T (p.Pro74Leu)	single nucleotide variant	not specified [RCV004089960]	Chr11:31456360 [GRCh38] Chr11:31477907 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.479G>T (p.Gly160Val)	single nucleotide variant	not specified [RCV004149125]	Chr11:31432522 [GRCh38] Chr11:31454069 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.223A>G (p.Ser75Gly)	single nucleotide variant	not specified [RCV004188331]	Chr11:31456358 [GRCh38] Chr11:31477905 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.346G>C (p.Glu116Gln)	single nucleotide variant	not specified [RCV004082637]	Chr11:31433546 [GRCh38] Chr11:31455093 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p13(chr11:31260027-31639671)x1	copy number loss	not provided [RCV003334142]	Chr11:31260027..31639671 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.88G>A (p.Val30Ile)	single nucleotide variant	not specified [RCV004334890]	Chr11:31463189 [GRCh38] Chr11:31484736 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p13(chr11:31501986-31578568)x1	copy number loss	not provided [RCV003483121]	Chr11:31501986..31578568 [GRCh37] Chr11:11p13	likely pathogenic
GRCh37/hg19 11p13(chr11:31296614-31466509)x1	copy number loss	not provided [RCV003483119]	Chr11:31296614..31466509 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p13(chr11:31437272-31555701)x1	copy number loss	not provided [RCV003483120]	Chr11:31437272..31555701 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p13(chr11:31158395-31677662)x1	copy number loss	not specified [RCV003986954]	Chr11:31158395..31677662 [GRCh37] Chr11:11p13	pathogenic
GRCh37/hg19 11p13(chr11:31001762-31555701)x1	copy number loss	not specified [RCV003986933]	Chr11:31001762..31555701 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p13(chr11:31416012-31802761)x1	copy number loss	not specified [RCV003986938]	Chr11:31416012..31802761 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.115C>A (p.Pro39Thr)	single nucleotide variant	not specified [RCV004397864]	Chr11:31460705 [GRCh38] Chr11:31482252 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.121A>G (p.Met41Val)	single nucleotide variant	not specified [RCV004397865]	Chr11:31460699 [GRCh38] Chr11:31482246 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.386A>G (p.Tyr129Cys)	single nucleotide variant	not specified [RCV004397868]	Chr11:31433506 [GRCh38] Chr11:31455053 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.182A>G (p.Tyr61Cys)	single nucleotide variant	not specified [RCV004397866]	Chr11:31460638 [GRCh38] Chr11:31482185 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.313C>G (p.His105Asp)	single nucleotide variant	not specified [RCV004397867]	Chr11:31456268 [GRCh38] Chr11:31477815 [GRCh37] Chr11:11p13	uncertain significance
NC_000011.9:g.(?_31349644)_(31832375_?)del	deletion	not provided [RCV004580379]	Chr11:31349644..31832375 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.241A>G (p.Ile81Val)	single nucleotide variant	not specified [RCV004628129]	Chr11:31456340 [GRCh38] Chr11:31477887 [GRCh37] Chr11:11p13	uncertain significance
GRCh37/hg19 11p15.1-12(chr11:17120358-41424289)x1	copy number loss	not provided [RCV004819366]	Chr11:17120358..41424289 [GRCh37] Chr11:11p15.1-12	pathogenic
GRCh37/hg19 11p14.3-13(chr11:24192701-32455527)x1	copy number loss	not provided [RCV004819368]	Chr11:24192701..32455527 [GRCh37] Chr11:11p14.3-13	pathogenic
GRCh37/hg19 11p14.3-12(chr11:22428384-37196643)x1	copy number loss	not provided [RCV004819367]	Chr11:22428384..37196643 [GRCh37] Chr11:11p14.3-12	pathogenic
GRCh37/hg19 11p13(chr11:31504814-31901663)x1	copy number loss	not provided [RCV004819369]	Chr11:31504814..31901663 [GRCh37] Chr11:11p13	pathogenic
NM_001304274.2(IMMP1L):c.419G>A (p.Arg140Gln)	single nucleotide variant	not specified [RCV004929350]	Chr11:31433473 [GRCh38] Chr11:31455020 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.295T>C (p.Ser99Pro)	single nucleotide variant	not specified [RCV004929351]	Chr11:31456286 [GRCh38] Chr11:31477833 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.81T>G (p.Phe27Leu)	single nucleotide variant	not specified [RCV004929352]	Chr11:31463196 [GRCh38] Chr11:31484743 [GRCh37] Chr11:11p13	uncertain significance
NM_001304274.2(IMMP1L):c.100G>C (p.Val34Leu)	single nucleotide variant	not specified [RCV004929353]	Chr11:31463177 [GRCh38] Chr11:31484724 [GRCh37] Chr11:11p13	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	1196
Count of miRNA genes:	555
Interacting mature miRNAs:	615
Transcripts:	ENST00000278200, ENST00000526776, ENST00000527184, ENST00000528161, ENST00000529749, ENST00000530023, ENST00000531331, ENST00000531693, ENST00000532287, ENST00000532624, ENST00000532668, ENST00000533512, ENST00000533642, ENST00000533921, ENST00000534812
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1576345	LVC1_H	Left ventricular contractility QTL 1 (human)	3.93		Left ventricular contractility		11	7970767	33970767	Human
1559104	SCL15_H	Serum cholesterol level QTL 15 (human)	2.6	0.06	Lipid level	hyperlipidemia susceptibility	11	15892368	41892368	Human
597278885	GWAS1374959_H	insomnia QTL GWAS1374959 (human)		4e-08	insomnia		11	31504165	31504166	Human
597114344	GWAS1210418_H	health study participation QTL GWAS1210418 (human)		2e-09	health study participation		11	31501583	31501584	Human

Markers in Region

RH104200

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	31,464,403 - 31,464,530	UniSTS	GRCh37
Build 36	11	31,420,979 - 31,421,106	RGD	NCBI36
Celera	11	31,611,825 - 31,611,952	RGD
Cytogenetic Map	11	p13	UniSTS
HuRef	11	31,158,810 - 31,158,937	UniSTS
GeneMap99-GB4 RH Map	11	115.34	UniSTS

D11S2721

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	31,457,325 - 31,457,487	UniSTS	GRCh37
Build 36	11	31,413,901 - 31,414,063	RGD	NCBI36
Celera	11	31,604,747 - 31,604,909	RGD
Cytogenetic Map	11	p13	UniSTS
HuRef	11	31,151,732 - 31,151,894	UniSTS

RH102333

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	11	p13	UniSTS
GeneMap99-GB4 RH Map	12	443.2	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1950	465	2270	7305	6471	53	3734	1	852	1744	1617	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001304274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_144981	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005252812	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011519942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011519943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011519944	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011519945	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011519946	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011519947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017017305	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017017306	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017017307	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047426520	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047426521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054367950	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054367951	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054367952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054367953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054367954	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054367955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054367956	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054367957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054367958	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054367959	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008488358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_242781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC108456	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK057788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310496	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311611	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL133295	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW295209	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC023595	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB288287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC877402	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000278200 ⟹ ENSP00000278200

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,432,402 - 31,509,622 (-)	Ensembl

Ensembl Acc Id:

ENST00000526776 ⟹ ENSP00000434280

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,432,401 - 31,509,574 (-)	Ensembl

Ensembl Acc Id:

ENST00000527184

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,449,030 - 31,509,592 (-)	Ensembl

Ensembl Acc Id:

ENST00000528161

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,452,198 - 31,509,563 (-)	Ensembl

Ensembl Acc Id:

ENST00000529749 ⟹ ENSP00000432001

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,456,260 - 31,509,603 (-)	Ensembl

Ensembl Acc Id:

ENST00000530023 ⟹ ENSP00000432792

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,456,293 - 31,509,632 (-)	Ensembl

Ensembl Acc Id:

ENST00000531331 ⟹ ENSP00000432670

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,432,401 - 31,456,338 (-)	Ensembl

Ensembl Acc Id:

ENST00000531693

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,456,313 - 31,509,578 (-)	Ensembl

Ensembl Acc Id:

ENST00000532287 ⟹ ENSP00000435576

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,432,401 - 31,509,622 (-)	Ensembl

Ensembl Acc Id:

ENST00000532624

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,452,545 - 31,509,605 (-)	Ensembl

Ensembl Acc Id:

ENST00000532668

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,477,115 - 31,509,608 (-)	Ensembl

Ensembl Acc Id:

ENST00000533512

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,432,402 - 31,433,755 (-)	Ensembl

Ensembl Acc Id:

ENST00000533642 ⟹ ENSP00000432471

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,432,493 - 31,509,645 (-)	Ensembl

Ensembl Acc Id:

ENST00000533921

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,488,197 - 31,509,595 (-)	Ensembl

Ensembl Acc Id:

ENST00000534812 ⟹ ENSP00000432673

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,432,401 - 31,509,592 (-)	Ensembl

Ensembl Acc Id:

ENST00000648582 ⟹ ENSP00000497019

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	31,432,431 - 31,509,594 (-)	Ensembl

RefSeq Acc Id:

NM_001304274 ⟹ NP_001291203

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI
CHM1_1	11	31,453,473 - 31,530,727 (-)	NCBI
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI

Sequence:

show sequence

GAAAAGTGCGCCCTACGAAAGGACGGTCGACTTCGGCGGGGCCCAGGTGAGAAAGGCCCACCTG
TGTCCTGGTTGAGGGTCTCCAGGGTTCTTTGGGGCCCGAGGCCAATGGTGGCAGAGTCTACATA
GAACTATGCTTCGTGGTGTTCTGGGGAAAACCTTTCGACTTGTTGGCTATACTATTCAATATGG
CTGTATAGCTCATTGTGCTTTTGAATACGTTGGTGGTGTTGTCATGTGTTCTGGACCATCAATG
GAGCCTACAATTCAAAATTCAGATATTGTCTTTGCAGAAAATCTTAGTCGACATTTTTATGGTA
TCCAAAGAGGTGACATTGTGATTGCAAAAAGCCCAAGTGATCCAAAATCAAATATTTGTAAAAG
AGTAATTGGTTTGGAAGGAGACAAAATCCTCACCACTAGTCCATCAGATTTCTTTAAAAGCCAT
AGTTATGTGCCAATGGGTCATGTTTGGTTAGAAGGTGACAATCTACAGAATTCTACAGATTCCA
GGTGCTATGGACCTATTCCATATGGACTAATAAGAGGACGAATCTTCTTTAAGATTTGGCCTCT
GAGTGATTTTGGATTTTTACGTGCCAGCCCTAATGGCCACAGATTTTCTGATGATTAGTAAGCA
TTTATTCTTTTGACTTGATTATTGTCTCCTTTTCATGTGAATTTATTACTCCCGTTGAAACCGT
GTACTTACCAATAAACTATTTGCTATTCA

hide sequence

RefSeq Acc Id:

NM_144981 ⟹ NP_659418

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI
GRCh37	11	31,453,948 - 31,531,169 (-)	NCBI
Build 36	11	31,410,525 - 31,487,745 (-)	NCBI Archive
Celera	11	31,601,371 - 31,678,615 (-)	RGD
HuRef	11	31,148,356 - 31,225,919 (-)	ENTREZGENE
CHM1_1	11	31,453,473 - 31,530,727 (-)	NCBI
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI

Sequence:

show sequence

GAAAAGTGCGCCCTACGAAAGGACGGTCGACTTCGGCGGGGCCCAGGTGAGAAAGGCCCACCTG
TGTCCTGGTTGAGGGTCTCCAGGGTTCTTTGGGGCCCGAGGAATTTCAGACCTGAACAATCAGG
TGGACAACTTCTTGTGACTTTGGGTATTCTGAAATTACTGCCAATGGTGGCAGAGTCTACATAG
AACTATGCTTCGTGGTGTTCTGGGGAAAACCTTTCGACTTGTTGGCTATACTATTCAATATGGC
TGTATAGCTCATTGTGCTTTTGAATACGTTGGTGGTGTTGTCATGTGTTCTGGACCATCAATGG
AGCCTACAATTCAAAATTCAGATATTGTCTTTGCAGAAAATCTTAGTCGACATTTTTATGGTAT
CCAAAGAGGTGACATTGTGATTGCAAAAAGCCCAAGTGATCCAAAATCAAATATTTGTAAAAGA
GTAATTGGTTTGGAAGGAGACAAAATCCTCACCACTAGTCCATCAGATTTCTTTAAAAGCCATA
GTTATGTGCCAATGGGTCATGTTTGGTTAGAAGGTGACAATCTACAGAATTCTACAGATTCCAG
GTGCTATGGACCTATTCCATATGGACTAATAAGAGGACGAATCTTCTTTAAGATTTGGCCTCTG
AGTGATTTTGGATTTTTACGTGCCAGCCCTAATGGCCACAGATTTTCTGATGATTAGTAAGCAT
TTATTCTTTTGACTTGATTATTGTCTCCTTTTCATGTGAATTTATTACTCCCGTTGAAACCGTG
TACTTACCAATAAACTATTTGCTATTCA

hide sequence

RefSeq Acc Id:

XM_005252812 ⟹ XP_005252869

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI
GRCh37	11	31,453,948 - 31,531,169 (-)	NCBI

Sequence:

show sequence

AAGGCGTATTGCTGAAAAGTGCGCCCTACGAAAGGACGGTCGACTTCGGCGGGGCCCAGGTGAG
AAAGGCCCACCTGTGTCCTGGTTGAGGGTCTCCAGGGTTCTTTGGGGCCCGAGGATTCCTGAAA
TTGTGGATCACCCACCTATGCTTTAAGACATGCTTTATTTTTTTTTTTTCTGGAAGCCCTGCAA
CTTCCCTAAAAATTGAATGAATTGTAGAACAGACCTATGGAATTTCAGACCTGAACAATCAGGT
GGACAACTTCTTGTGACTTTGGGTATTCTGAAATTACTGCCAATGGTGGCAGAGTCTACATAGA
ACTATGCTTCGTGGTGTTCTGGGGAAAACCTTTCGACTTGTTGGCTATACTATTCAATATGGCT
GTATAGCTCATTGTGCTTTTGAATACGTTGGTGGTGTTGTCATGTGTTCTGGACCATCAATGGA
GCCTACAATTCAAAATTCAGATATTGTCTTTGCAGAAAATCTTAGTCGACATTTTTATGGTATC
CAAAGAGGTGACATTGTGATTGCAAAAAGCCCAAGTGATCCAAAATCAAATATTTGTAAAAGAG
TAATTGGTTTGGAAGGAGACAAAATCCTCACCACTAGTCCATCAGATTTCTTTAAAAGCCATAG
TTATGTGCCAATGGGTCATGTTTGGTTAGAAGGTGACAATCTACAGAATTCTACAGATTCCAGG
TGCTATGGACCTATTCCATATGGACTAATAAGAGGACGAATCTTCTTTAAGATTTGGCCTCTGA
GTGATTTTGGATTTTTACGTGCCAGCCCTAATGGCCACAGATTTTCTGATGATTAGTAAGCATT
TATTCTTTTGACTTGATTATTGTCTCCTTTTCATGTGAATTTATTACTCCCGTTGAAACCGTGT
ACTTACCAATAAACTATTTGCTATTCA

hide sequence

RefSeq Acc Id:

XM_011519942 ⟹ XP_011518244

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI

Sequence:

show sequence

ATTGCTGAAAAGTGCGCCCTACGAAAGGACGGTCGACTTCGGCGGGGCCCAGGTGAGAAAGGCC
CACCTGTGTCCTGGTTGAGGGTCTCCAGGGTTCTTTGGGGCCCGAGGAATTTCAGACCTGAACA
ATCAGGTGGACAACTTCTTGTGACTTTGGGTATTCTGAAATTACTCATCTTGACTCTACTGTGC
CTGGATGTAGCTGTGTGTTTTGTGTGTATCCTGTTCATGGCCAATGGTGGCAGAGTCTACATAG
AACTATGCTTCGTGGTGTTCTGGGGAAAACCTTTCGACTTGTTGGCTATACTATTCAATATGGC
TGTATAGCTCATTGTGCTTTTGAATACGTTGGTGGTGTTGTCATGTGTTCTGGACCATCAATGG
AGCCTACAATTCAAAATTCAGATATTGTCTTTGCAGAAAATCTTAGTCGACATTTTTATGGTAT
CCAAAGAGGTGACATTGTGATTGCAAAAAGCCCAAGTGATCCAAAATCAAATATTTGTAAAAGA
GTAATTGGTTTGGAAGGAGACAAAATCCTCACCACTAGTCCATCAGATTTCTTTAAAAGCCATA
GTTATGTGCCAATGGGTCATGTTTGGTTAGAAGGTGACAATCTACAGAATTCTACAGATTCCAG
GTGCTATGGACCTATTCCATATGGACTAATAAGAGGACGAATCTTCTTTAAGATTTGGCCTCTG
AGTGATTTTGGATTTTTACGTGCCAGCCCTAATGGCCACAGATTTTCTGATGATTAGTAAGCAT
TTATTCTTTTGACTTGATTATTGTCTCCTTTTCATGTGAATTTATTACTCCCGTTGAAACCGTG
TACTTACCAATAAACTATTTGCTATTCA

hide sequence

RefSeq Acc Id:

XM_011519943 ⟹ XP_011518245

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI

Sequence:

show sequence

AAGGCGTATTGCTGAAAAGTGCGCCCTACGAAAGGACGGTCGACTTCGGCGGGGCCCAGGTGAG
AAAGGCCCACCTGTGTCCTGGTTGAGGGTCTCCAGGGTTCTTTGGGGCCCGAGGATTCCTGAAA
TTGTGGATCACCCACCTATGCTTTAAGACATGCTTTATTTTTTTTTTTTCTGGAAGCCCTGCAA
CTTCCCTAAAAATTGAATGAATTGTAGAACAGACCTATGGAATTTCAGACCTGAACAATCAGGT
GGACAACTTCTTGTGACTTTGGGTATTCTGAAATTACTCATCTTGACTCTACTGTGCCTGGATG
TAGCTGTGTGTTTTGTGTGTATCCTGTTCATGGCCAATGGTGGCAGAGTCTACATAGAACTATG
CTTCGTGGTGTTCTGGGGAAAACCTTTCGACTTGTTGGCTATACTATTCAATATGGCTGTATAG
CTCATTGTGCTTTTGAATACGTTGGTGGTGTTGTCATGTGTTCTGGACCATCAATGGAGCCTAC
AATTCAAAATTCAGATATTGTCTTTGCAGAAAATCTTAGTCGACATTTTTATGGTATCCAAAGA
GGTGACATTGTGATTGCAAAAAGCCCAAGTGATCCAAAATCAAATATTTGTAAAAGAGTAATTG
GTTTGGAAGGAGACAAAATCCTCACCACTAGTCCATCAGATTTCTTTAAAAGCCATAGTTATGT
GCCAATGGGTCATGTTTGGTTAGAAGGTGACAATCTACAGAATTCTACAGATTCCAGGTGCTAT
GGACCTATTCCATATGGACTAATAAGAGGACGAATCTTCTTTAAGATTTGGCCTCTGAGTGATT
TTGGATTTTTACGTGCCAGCCCTAATGGCCACAGATTTTCTGATGATTAGTAAGCATTTATTCT
TTTGACTTGATTATTGTCTCCTTTTCATGTGAATTTATTACTCCCGTTGAAACCGTGTACTTAC
CAATAAACTATTTGCTATTCA

hide sequence

RefSeq Acc Id:

XM_011519945 ⟹ XP_011518247

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI

Sequence:

show sequence

AAGGCGTATTGCTGAAAAGTGCGCCCTACGAAAGGACGGTCGACTTCGGCGGGGCCCAGGTGAG
AAAGGCCCACCTGTGTCCTGGTTGAGGGTCTCCAGGGTTCTTTGGGGCCCGAGCATCTTGACTC
TACTGTGCCTGGATGTAGCTGTGTGTTTTGTGTGTATCCTGTTCATGGCCAATGGTGGCAGAGT
CTACATAGAACTATGCTTCGTGGTGTTCTGGGGAAAACCTTTCGACTTGTTGGCTATACTATTC
AATATGGCTGTATAGCTCATTGTGCTTTTGAATACGTTGGTGGTGTTGTCATGTGTTCTGGACC
ATCAATGGAGCCTACAATTCAAAATTCAGATATTGTCTTTGCAGAAAATCTTAGTCGACATTTT
TATGGTATCCAAAGAGGTGACATTGTGATTGCAAAAAGCCCAAGTGATCCAAAATCAAATATTT
GTAAAAGAGTAATTGGTTTGGAAGGAGACAAAATCCTCACCACTAGTCCATCAGATTTCTTTAA
AAGCCATAGTTATGTGCCAATGGGTCATGTTTGGTTAGAAGGTGACAATCTACAGAATTCTACA
GATTCCAGGTGCTATGGACCTATTCCATATGGACTAATAAGAGGACGAATCTTCTTTAAGATTT
GGCCTCTGAGTGATTTTGGATTTTTACGTGCCAGCCCTAATGGCCACAGATTTTCTGATGATTA
GTAAGCATTTATTCTTTTGACTTGATTATTGTCTCCTTTTCATGTGAATTTATTACTCCCGTTG
AAACCGTGTACTTACCAATAAACTATTTGCTATTCA

hide sequence

RefSeq Acc Id:

XM_011519946 ⟹ XP_011518248

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI

Sequence:

show sequence

AAGGCGTATTGCTGAAAAGTGCGCCCTACGAAAGGACGGTCGACTTCGGCGGGGCCCAGGTGAG
AAAGGCCCACCTGTGTCCTGGTTGAGGGTCTCCAGGGTTCTTTGGGGCCCGAGGAATTTCAGAC
CTGAACAATCAGGTGGACAACTTCTTGTGACTTTGGGTATTCTGAAATTACTCATCTTGACTCT
ACTGTGCCTGGATGTAGCTGTGTGTTTTGCCAATGGTGGCAGAGTCTACATAGAACTATGCTTC
GTGGTGTTCTGGGGAAAACCTTTCGACTTGTTGGCTATACTATTCAATATGGCTGTATAGCTCA
TTGTGCTTTTGAATACGTTGGTGGTGTTGTCATGTGTTCTGGACCATCAATGGAGCCTACAATT
CAAAATTCAGATATTGTCTTTGCAGAAAATCTTAGTCGACATTTTTATGGTATCCAAAGAGGTG
ACATTGTGATTGCAAAAAGCCCAAGTGATCCAAAATCAAATATTTGTAAAAGAGTAATTGGTTT
GGAAGGAGACAAAATCCTCACCACTAGTCCATCAGATTTCTTTAAAAGCCATAGTTATGTGCCA
ATGGGTCATGTTTGGTTAGAAGGTGACAATCTACAGAATTCTACAGATTCCAGGTGCTATGGAC
CTATTCCATATGGACTAATAAGAGGACGAATCTTCTTTAAGATTTGGCCTCTGAGTGATTTTGG
ATTTTTACGTGCCAGCCCTAATGGCCACAGATTTTCTGATGATTAGTAAGCATTTATTCTTTTG
ACTTGATTATTGTCTCCTTTTCATGTGAATTTATTACTCCCGTTGAAACCGTGTACTTACCAAT
AAACTATTTGCTATTCA

hide sequence

RefSeq Acc Id:

XM_011519947 ⟹ XP_011518249

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI

Sequence:

show sequence

AAGGCGTATTGCTGAAAAGTGCGCCCTACGAAAGGACGGTCGACTTCGGCGGGGCCCAGGTGAG
AAAGGCCCACCTGTGTCCTGGTTGAGGGTCTCCAGGGTTCTTTGGGGCCCGAGCATCTTGACTC
TACTGTGCCTGGATGTAGCTGTGTGTTTTGCCAATGGTGGCAGAGTCTACATAGAACTATGCTT
CGTGGTGTTCTGGGGAAAACCTTTCGACTTGTTGGCTATACTATTCAATATGGCTGTATAGCTC
ATTGTGCTTTTGAATACGTTGGTGGTGTTGTCATGTGTTCTGGACCATCAATGGAGCCTACAAT
TCAAAATTCAGATATTGTCTTTGCAGAAAATCTTAGTCGACATTTTTATGGTATCCAAAGAGGT
GACATTGTGATTGCAAAAAGCCCAAGTGATCCAAAATCAAATATTTGTAAAAGAGTAATTGGTT
TGGAAGGAGACAAAATCCTCACCACTAGTCCATCAGATTTCTTTAAAAGCCATAGTTATGTGCC
AATGGGTCATGTTTGGTTAGAAGGTGACAATCTACAGAATTCTACAGATTCCAGGTGCTATGGA
CCTATTCCATATGGACTAATAAGAGGACGAATCTTCTTTAAGATTTGGCCTCTGAGTGATTTTG
GATTTTTACGTGCCAGCCCTAATGGCCACAGATTTTCTGATGATTAGTAAGCATTTATTCTTTT
GACTTGATTATTGTCTCCTTTTCATGTGAATTTATTACTCCCGTTGAAACCGTGTACTTACCAA
TAAACTATTTGCTATTCA

hide sequence

RefSeq Acc Id:

XM_017017305 ⟹ XP_016872794

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI

Sequence:

show sequence

AAGGCGTATTGCTGAAAAGTGCGCCCTACGAAAGGACGGTCGACTTCGGCGGGGCCCAGGTGAG
AAAGGCCCACCTGTGTCCTGGTTGAGGGTCTCCAGGGTTCTTTGGGGCCCGAGGATTCCTGAAA
TTGTGGATCACCCACCTATGCTTTAAGACATGCTTTATTTTTTTTTTTTCTGGAAGCCCTGCAA
CTTCCCTAAAAATTGAATGAATTGTAGAACAGACCTATGGCCAATGGTGGCAGAGTCTACATAG
AACTATGCTTCGTGGTGTTCTGGGGAAAACCTTTCGACTTGTTGGCTATACTATTCAATATGGC
TGTATAGCTCATTGTGCTTTTGAATACGTTGGTGGTGTTGTCATGTGTTCTGGACCATCAATGG
AGCCTACAATTCAAAATTCAGATATTGTCTTTGCAGAAAATCTTAGTCGACATTTTTATGGTAT
CCAAAGAGGTGACATTGTGATTGCAAAAAGCCCAAGTGATCCAAAATCAAATATTTGTAAAAGA
GTAATTGGTTTGGAAGGAGACAAAATCCTCACCACTAGTCCATCAGATTTCTTTAAAAGCCATA
GTTATGTGCCAATGGGTCATGTTTGGTTAGAAGGTGACAATCTACAGAATTCTACAGATTCCAG
GTGCTATGGACCTATTCCATATGGACTAATAAGAGGACGAATCTTCTTTAAGATTTGGCCTCTG
AGTGATTTTGGATTTTTACGTGCCAGCCCTAATGGCCACAGATTTTCTGATGATTAGTAAGCAT
TTATTCTTTTGACTTGATTATTGTCTCCTTTTCATGTGAATTTATTACTCCCGTTGAAACCGTG
TACTTACCAATAAACTATTTGCTATTCA

hide sequence

RefSeq Acc Id:

XM_017017306 ⟹ XP_016872795

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI

Sequence:

show sequence

GGAAGGCGTATTGCTGAAAAGTGCGCCCTACGAAAGGACGGTCGACTTCGGCGGGGCCCAGGTG
AGAAAGGCCCACCTGTGTCCTGGTTGAGGGTCTCCAGGGTTCTTTGGGGCCCGAGGATTCCTGA
AATTGTGGATCACCCACCTATGCTTTAAGACATGCTTTATTTTTTTTTTTTCTGGAAGCCCTGC
AACTTCCCTAAAAATTGAATGAATTGTAGAACAGACCTATGGAATTTCAGACCTGAACAATCAG
GTGGACAACTTCTTGTGACTTTGGGTATTCTGAAATTACTAGGTGACATTGTGATTGCAAAAAG
CCCAAGTGATCCAAAATCAAATATTTGTAAAAGAGTAATTGGTTTGGAAGGAGACAAAATCCTC
ACCACTAGTCCATCAGATTTCTTTAAAAGCCATAGTTATGTGCCAATGGGTCATGTTTGGTTAG
AAGGTGACAATCTACAGAATTCTACAGATTCCAGGTGCTATGGACCTATTCCATATGGACTAAT
AAGAGGACGAATCTTCTTTAAGATTTGGCCTCTGAGTGATTTTGGATTTTTACGTGCCAGCCCT
AATGGCCACAGATTTTCTGATGATTAGTAAGCATTTATTCTTTTGACTTGATTATTGTCTCCTT
TTCATGTGAATTTATTACTCCCGTTGAAACCGTGTACTTACCAATAAACTATTTGCTATTCA

hide sequence

RefSeq Acc Id:

XM_047426520 ⟹ XP_047282476

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI

RefSeq Acc Id:

XM_047426521 ⟹ XP_047282477

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,432,401 - 31,509,622 (-)	NCBI

RefSeq Acc Id:

XM_054367950 ⟹ XP_054223925

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI

RefSeq Acc Id:

XM_054367951 ⟹ XP_054223926

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI

RefSeq Acc Id:

XM_054367952 ⟹ XP_054223927

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI

RefSeq Acc Id:

XM_054367953 ⟹ XP_054223928

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI

RefSeq Acc Id:

XM_054367954 ⟹ XP_054223929

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI

RefSeq Acc Id:

XM_054367955 ⟹ XP_054223930

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI

RefSeq Acc Id:

XM_054367956 ⟹ XP_054223931

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI

RefSeq Acc Id:

XM_054367957 ⟹ XP_054223932

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI

RefSeq Acc Id:

XM_054367958 ⟹ XP_054223933

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	31,568,225 - 31,645,457 (-)	NCBI

RefSeq Acc Id:

XM_054367959 ⟹ XP_054223934

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	31,568,225 - 31,645,460 (-)	NCBI

RefSeq Acc Id:

XR_008488358

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	31,569,307 - 31,645,460 (-)	NCBI

RefSeq Acc Id:

XR_242781

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,433,483 - 31,509,622 (-)	NCBI
GRCh37	11	31,453,948 - 31,531,169 (-)	NCBI

Sequence:

show sequence

ACCAATCGGAAGGCGTATTGCTGAAAAGTGCGCCCTACGAAAGGACGGTCGACTTCGGCGGGGC
CCAGGTGAGAAAGGCCCACCTGTGTCCTGGTTGAGGGTCTCCAGGGTTCTTTGGGGCCCGAGGC
CAATGGTGGCAGAGTCTACATAGAACTATGCTTCGTGGTGTTCTGGGGAAAACCTTTCGACTTG
TTGGCTATACTATTCAATATGGCTGTATAGCTCATTGTGCTTTTGAATACGTTGGTGGTGTTGT
CATGTGTTCTGGACCATCAATGGAGCCTACAATTCAAAATTCAGATATTGTCTTTGCAGAAAAT
CTTAGTCGACATTTTTATGGTATCCAAAGAGGTGACATTGTGATTGCAAAAAGCCCAAGTGATC
CAAAATCAAATATTTGTAAAAGAGTAATTGGTTTGGAAGGAGACAAAATCCTCACCACTAGTCC
ATCAGATTTCTTTAAAAGCCATAGTTATACTATAGTGATAAAAACCTGTGCTACACATCCATTT
CTCAGCAACGGCTCCTAGGATAATCAATCATGGCATACTGCTAATGCCTTGATTGCAGCTGATA
TGGAGGAAATATGTTTACTCTTTTGCTAAAGTGAAGTTCACTGCGGAGGTGCCAATGGGTCATG
TTTGGTTAGAAGGTGACAATCTACAGAATTCTACAGATTCCAGGTGCTATGGACCTATTCCATA
TGGACTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001291203	(Get FASTA)	NCBI Sequence Viewer
	NP_659418	(Get FASTA)	NCBI Sequence Viewer
	XP_005252869	(Get FASTA)	NCBI Sequence Viewer
	XP_011518244	(Get FASTA)	NCBI Sequence Viewer
	XP_011518245	(Get FASTA)	NCBI Sequence Viewer
	XP_011518247	(Get FASTA)	NCBI Sequence Viewer
	XP_011518248	(Get FASTA)	NCBI Sequence Viewer
	XP_011518249	(Get FASTA)	NCBI Sequence Viewer
	XP_016872794	(Get FASTA)	NCBI Sequence Viewer
	XP_016872795	(Get FASTA)	NCBI Sequence Viewer
	XP_047282476	(Get FASTA)	NCBI Sequence Viewer
	XP_047282477	(Get FASTA)	NCBI Sequence Viewer
	XP_054223925	(Get FASTA)	NCBI Sequence Viewer
	XP_054223926	(Get FASTA)	NCBI Sequence Viewer
	XP_054223927	(Get FASTA)	NCBI Sequence Viewer
	XP_054223928	(Get FASTA)	NCBI Sequence Viewer
	XP_054223929	(Get FASTA)	NCBI Sequence Viewer
	XP_054223930	(Get FASTA)	NCBI Sequence Viewer
	XP_054223931	(Get FASTA)	NCBI Sequence Viewer
	XP_054223932	(Get FASTA)	NCBI Sequence Viewer
	XP_054223933	(Get FASTA)	NCBI Sequence Viewer
	XP_054223934	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH23595	(Get FASTA)	NCBI Sequence Viewer
	BAB71573	(Get FASTA)	NCBI Sequence Viewer
	CAC39221	(Get FASTA)	NCBI Sequence Viewer
	EAW68239	(Get FASTA)	NCBI Sequence Viewer
	EAW68240	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000278200
	ENSP00000278200.1
	ENSP00000435576
	ENSP00000435576.1
GenBank Protein	Q96LU5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_659418 ⟸ NM_144981
- UniProtKB:	D3DQZ7 (UniProtKB/Swiss-Prot), Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPTIQNSDIVFAENLSRHFYGIQ RGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFFKSHSYVPMGHVWLEGDNLQNSTDSRC YGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFSDD hide sequence

RefSeq Acc Id:	XP_005252869 ⟸ XM_005252812
- Peptide Label:	isoform X1
- UniProtKB:	D3DQZ7 (UniProtKB/Swiss-Prot), Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPTIQNSDIVFAENLSRHFYGIQ RGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFFKSHSYVPMGHVWLEGDNLQNSTDSRC YGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFSDD hide sequence

RefSeq Acc Id:	NP_001291203 ⟸ NM_001304274
- UniProtKB:	D3DQZ7 (UniProtKB/Swiss-Prot), Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPTIQNSDIVFAENLSRHFYGIQ RGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFFKSHSYVPMGHVWLEGDNLQNSTDSRC YGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFSDD hide sequence

RefSeq Acc Id:	XP_011518249 ⟸ XM_011519947
- Peptide Label:	isoform X1
- UniProtKB:	D3DQZ7 (UniProtKB/Swiss-Prot), Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPTIQNSDIVFAENLSRHFYGIQ RGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFFKSHSYVPMGHVWLEGDNLQNSTDSRC YGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFSDD hide sequence

RefSeq Acc Id:	XP_011518247 ⟸ XM_011519945
- Peptide Label:	isoform X1
- UniProtKB:	D3DQZ7 (UniProtKB/Swiss-Prot), Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPTIQNSDIVFAENLSRHFYGIQ RGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFFKSHSYVPMGHVWLEGDNLQNSTDSRC YGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFSDD hide sequence

RefSeq Acc Id:	XP_011518248 ⟸ XM_011519946
- Peptide Label:	isoform X1
- UniProtKB:	D3DQZ7 (UniProtKB/Swiss-Prot), Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPTIQNSDIVFAENLSRHFYGIQ RGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFFKSHSYVPMGHVWLEGDNLQNSTDSRC YGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFSDD hide sequence

RefSeq Acc Id:	XP_011518245 ⟸ XM_011519943
- Peptide Label:	isoform X1
- UniProtKB:	D3DQZ7 (UniProtKB/Swiss-Prot), Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPTIQNSDIVFAENLSRHFYGIQ RGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFFKSHSYVPMGHVWLEGDNLQNSTDSRC YGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFSDD hide sequence

RefSeq Acc Id:	XP_011518244 ⟸ XM_011519942
- Peptide Label:	isoform X1
- UniProtKB:	D3DQZ7 (UniProtKB/Swiss-Prot), Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPTIQNSDIVFAENLSRHFYGIQ RGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFFKSHSYVPMGHVWLEGDNLQNSTDSRC YGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFSDD hide sequence

RefSeq Acc Id:	XP_016872795 ⟸ XM_017017306
- Peptide Label:	isoform X2
- Sequence:	show sequence MNCRTDLWNFRPEQSGGQLLVTLGILKLLGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSD FFKSHSYVPMGHVWLEGDNLQNSTDSRCYGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFS DD hide sequence

RefSeq Acc Id:	XP_016872794 ⟸ XM_017017305
- Peptide Label:	isoform X1
- UniProtKB:	D3DQZ7 (UniProtKB/Swiss-Prot), Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRGVLGKTFRLVGYTIQYGCIAHCAFEYVGGVVMCSGPSMEPTIQNSDIVFAENLSRHFYGIQ RGDIVIAKSPSDPKSNICKRVIGLEGDKILTTSPSDFFKSHSYVPMGHVWLEGDNLQNSTDSRC YGPIPYGLIRGRIFFKIWPLSDFGFLRASPNGHRFSDD hide sequence

Ensembl Acc Id:

ENSP00000497019 ⟸ ENST00000648582

Ensembl Acc Id:

ENSP00000432792 ⟸ ENST00000530023

Ensembl Acc Id:

ENSP00000432670 ⟸ ENST00000531331

Ensembl Acc Id:

ENSP00000435576 ⟸ ENST00000532287

Ensembl Acc Id:

ENSP00000432471 ⟸ ENST00000533642

Ensembl Acc Id:

ENSP00000432673 ⟸ ENST00000534812

Ensembl Acc Id:

ENSP00000434280 ⟸ ENST00000526776

Ensembl Acc Id:

ENSP00000278200 ⟸ ENST00000278200

Ensembl Acc Id:

ENSP00000432001 ⟸ ENST00000529749

RefSeq Acc Id:	XP_047282477 ⟸ XM_047426521
- Peptide Label:	isoform X1
- UniProtKB:	Q96LU5 (UniProtKB/Swiss-Prot), D3DQZ7 (UniProtKB/Swiss-Prot), Q96SH9 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_047282476 ⟸ XM_047426520
- Peptide Label:	isoform X1
- UniProtKB:	Q96LU5 (UniProtKB/Swiss-Prot), D3DQZ7 (UniProtKB/Swiss-Prot), Q96SH9 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054223930 ⟸ XM_054367955
- Peptide Label:	isoform X1
- UniProtKB:	Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot), D3DQZ7 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054223927 ⟸ XM_054367952
- Peptide Label:	isoform X1
- UniProtKB:	Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot), D3DQZ7 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054223929 ⟸ XM_054367954
- Peptide Label:	isoform X1
- UniProtKB:	Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot), D3DQZ7 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054223932 ⟸ XM_054367957
- Peptide Label:	isoform X1
- UniProtKB:	Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot), D3DQZ7 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054223925 ⟸ XM_054367950
- Peptide Label:	isoform X1
- UniProtKB:	Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot), D3DQZ7 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054223928 ⟸ XM_054367953
- Peptide Label:	isoform X1
- UniProtKB:	Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot), D3DQZ7 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054223934 ⟸ XM_054367959
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054223931 ⟸ XM_054367956
- Peptide Label:	isoform X1
- UniProtKB:	Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot), D3DQZ7 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054223926 ⟸ XM_054367951
- Peptide Label:	isoform X1
- UniProtKB:	Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot), D3DQZ7 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054223933 ⟸ XM_054367958
- Peptide Label:	isoform X1
- UniProtKB:	Q96SH9 (UniProtKB/Swiss-Prot), Q96LU5 (UniProtKB/Swiss-Prot), D3DQZ7 (UniProtKB/Swiss-Prot)

Protein Domains

Peptidase S26

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96LU5-F1-model_v2	AlphaFold	Q96LU5	1-166	view protein structure

Promoters

RGD ID:

6788771

Promoter ID:

HG_KWN:12559

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000379163, ENST00000395934, NM_144981, OTTHUMT00000286640, UC001MSZ.1, UC001MTA.1, UC001MTC.1, UC009YJO.1, UC009YJP.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	31,486,956 - 31,488,037 (+)	MPROMDB

RGD ID:

7219927

Promoter ID:

EPDNEW_H15709

Type:

multiple initiation site

Name:

IMMP1L_3

Description:

inner mitochondrial membrane peptidase subunit 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H15710 EPDNEW_H15712

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,504,882 - 31,504,942	EPDNEW

RGD ID:

7219929

Promoter ID:

EPDNEW_H15710

Type:

initiation region

Name:

IMMP1L_2

Description:

inner mitochondrial membrane peptidase subunit 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H15709 EPDNEW_H15712

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,509,578 - 31,509,638	EPDNEW

RGD ID:

7219933

Promoter ID:

EPDNEW_H15712

Type:

initiation region

Name:

IMMP1L_1

Description:

inner mitochondrial membrane peptidase subunit 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H15709 EPDNEW_H15710

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	31,509,606 - 31,509,666	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:26317	AgrOrtholog
COSMIC	IMMP1L	COSMIC
Ensembl Genes	ENSG00000148950	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000278200	ENTREZGENE
	ENST00000278200.5	UniProtKB/Swiss-Prot
	ENST00000532287	ENTREZGENE
	ENST00000532287.6	UniProtKB/Swiss-Prot
Gene3D-CATH	Umud Fragment, subunit A	UniProtKB/Swiss-Prot
GTEx	ENSG00000148950	GTEx
HGNC ID	HGNC:26317	ENTREZGENE
Human Proteome Map	IMMP1L	Human Proteome Map
InterPro	LexA/Signal_pep-like_sf	UniProtKB/Swiss-Prot
	Mito_IMP1_subunit	UniProtKB/Swiss-Prot
	Pept_S26A_signal_pept_1	UniProtKB/Swiss-Prot
	Peptidase_S26	UniProtKB/Swiss-Prot
KEGG Report	hsa:196294	UniProtKB/Swiss-Prot
NCBI Gene	196294	ENTREZGENE
OMIM	612323	OMIM
PANTHER	MITOCHONDRIAL INNER MEMBRANE PROTEASE SUBUNIT 1	UniProtKB/Swiss-Prot
	PROTEASE FAMILY S26 MITOCHONDRIAL INNER MEMBRANE PROTEASE-RELATED	UniProtKB/Swiss-Prot
Pfam	Peptidase_S26	UniProtKB/Swiss-Prot
PharmGKB	PA142671655	PharmGKB
PRINTS	LEADERPTASE	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF51306	UniProtKB/Swiss-Prot
UniProt	A0A0B4J221_HUMAN	UniProtKB/TrEMBL
	A0A3B3IS22_HUMAN	UniProtKB/TrEMBL
	D3DQZ7	ENTREZGENE
	E9PIG6_HUMAN	UniProtKB/TrEMBL
	E9PNR7_HUMAN	UniProtKB/TrEMBL
	E9PR99_HUMAN	UniProtKB/TrEMBL
	H0YD09_HUMAN	UniProtKB/TrEMBL
	IMP1L_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q96SH9	ENTREZGENE
UniProt Secondary	D3DQZ7	UniProtKB/Swiss-Prot
	Q96SH9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-06-30	IMMP1L	inner mitochondrial membrane peptidase subunit 1	IMMP1L	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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