IMMP1L (inner mitochondrial membrane peptidase subunit 1) - Rat Genome Database

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Gene: IMMP1L (inner mitochondrial membrane peptidase subunit 1) Homo sapiens
Analyze
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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: IMMP1LP1   IMMP1LP2   IMMP1LP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381131,432,401 - 31,509,622 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1131,432,401 - 31,509,645 (-)EnsemblGRCh38hg38GRCh38
GRCh371131,453,948 - 31,531,169 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361131,410,525 - 31,487,745 (-)NCBINCBI36Build 36hg18NCBI36
Celera1131,601,371 - 31,678,615 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1131,148,356 - 31,225,919 (-)NCBIHuRef
CHM1_11131,453,476 - 31,530,721 (-)NCBICHM1_1
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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  


Genomics

Comparative Map Data
IMMP1L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381131,432,401 - 31,509,622 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1131,432,401 - 31,509,645 (-)EnsemblGRCh38hg38GRCh38
GRCh371131,453,948 - 31,531,169 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361131,410,525 - 31,487,745 (-)NCBINCBI36Build 36hg18NCBI36
Celera1131,601,371 - 31,678,615 (-)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1131,148,356 - 31,225,919 (-)NCBIHuRef
CHM1_11131,453,476 - 31,530,721 (-)NCBICHM1_1
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBIT2T-CHM13v2.0
Immp1l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392105,735,013 - 105,795,904 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2105,734,983 - 105,795,903 (+)EnsemblGRCm39 Ensembl
GRCm382105,904,638 - 105,965,558 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2105,904,638 - 105,965,558 (+)EnsemblGRCm38mm10GRCm38
MGSCv372105,744,795 - 105,805,715 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362105,705,524 - 105,768,025 (+)NCBIMGSCv36mm8
Celera2107,127,142 - 107,181,499 (+)NCBICelera
Cytogenetic Map2E3NCBI
cM Map255.43NCBI
Immp1l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83112,840,015 - 112,904,297 (+)NCBIGRCr8
mRatBN7.2392,385,329 - 92,449,559 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl392,385,379 - 92,452,313 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx395,881,218 - 95,945,313 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03104,480,148 - 104,544,243 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03102,308,165 - 102,372,323 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0395,955,126 - 96,024,316 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl395,959,703 - 96,024,836 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03102,575,250 - 102,646,194 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4391,408,864 - 91,436,603 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera391,434,869 - 91,498,889 (+)NCBICelera
Cytogenetic Map3q33NCBI
Immp1l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554769,784,838 - 9,850,091 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554769,784,838 - 9,850,076 (-)NCBIChiLan1.0ChiLan1.0
IMMP1L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2933,642,647 - 33,719,978 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11133,647,146 - 33,724,483 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01131,396,011 - 31,473,342 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11131,285,619 - 31,362,866 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1131,285,619 - 31,362,843 (-)Ensemblpanpan1.1panPan2
IMMP1L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11835,880,278 - 35,963,128 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1835,880,183 - 35,963,494 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1835,529,405 - 35,612,247 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01836,524,425 - 36,607,191 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1836,524,319 - 36,607,242 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11836,097,808 - 36,180,183 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01835,679,026 - 35,761,612 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01836,314,293 - 36,397,070 (+)NCBIUU_Cfam_GSD_1.0
Immp1l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494733,091,418 - 33,164,763 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365336,216,225 - 6,289,554 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365336,216,254 - 6,289,554 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IMMP1L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl229,230,210 - 29,307,210 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1229,230,172 - 29,305,906 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2231,737,387 - 31,813,219 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IMMP1L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1133,679,133 - 33,757,924 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl133,710,582 - 33,756,884 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038130,842,507 - 130,926,241 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Immp1l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476620,285,362 - 20,343,659 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476620,279,082 - 20,343,857 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IMMP1L
9 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 Inborn genetic diseases [RCV002840950] Chr11:31463201 [GRCh38]
Chr11:31484748 [GRCh37]
Chr11:11p13
uncertain significance
NM_001304274.2(IMMP1L):c.221C>T (p.Pro74Leu) single nucleotide variant Inborn genetic diseases [RCV002706811] Chr11:31456360 [GRCh38]
Chr11:31477907 [GRCh37]
Chr11:11p13
uncertain significance
NM_001304274.2(IMMP1L):c.479G>T (p.Gly160Val) single nucleotide variant Inborn genetic diseases [RCV002874857] Chr11:31432522 [GRCh38]
Chr11:31454069 [GRCh37]
Chr11:11p13
uncertain significance
NM_001304274.2(IMMP1L):c.223A>G (p.Ser75Gly) single nucleotide variant Inborn genetic diseases [RCV002931388] Chr11:31456358 [GRCh38]
Chr11:31477905 [GRCh37]
Chr11:11p13
uncertain significance
NM_001304274.2(IMMP1L):c.346G>C (p.Glu116Gln) single nucleotide variant Inborn genetic diseases [RCV002656580] 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 Inborn genetic diseases [RCV003349265] 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
miRNA Target Status

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.

Markers in Region
RH104200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,464,403 - 31,464,530UniSTSGRCh37
Build 361131,420,979 - 31,421,106RGDNCBI36
Celera1131,611,825 - 31,611,952RGD
Cytogenetic Map11p13UniSTS
HuRef1131,158,810 - 31,158,937UniSTS
GeneMap99-GB4 RH Map11115.34UniSTS
D11S2721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371131,457,325 - 31,457,487UniSTSGRCh37
Build 361131,413,901 - 31,414,063RGDNCBI36
Celera1131,604,747 - 31,604,909RGD
Cytogenetic Map11p13UniSTS
HuRef1131,151,732 - 31,151,894UniSTS
RH102333  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p13UniSTS
GeneMap99-GB4 RH Map12443.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 83 16 95 36 487 35 216 22 473 121 388 192 12 1 2 1 1
Low 2356 2565 1631 588 1065 430 4141 2164 3261 298 1072 1421 162 1204 2786 5 1
Below cutoff 409 398 11

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

RefSeq Acc Id: ENST00000278200   ⟹   ENSP00000278200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,432,402 - 31,509,622 (-)Ensembl
RefSeq Acc Id: ENST00000526776   ⟹   ENSP00000434280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,432,401 - 31,509,574 (-)Ensembl
RefSeq Acc Id: ENST00000527184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,449,030 - 31,509,592 (-)Ensembl
RefSeq Acc Id: ENST00000528161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,452,198 - 31,509,563 (-)Ensembl
RefSeq Acc Id: ENST00000529749   ⟹   ENSP00000432001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,456,260 - 31,509,603 (-)Ensembl
RefSeq Acc Id: ENST00000530023   ⟹   ENSP00000432792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,456,293 - 31,509,632 (-)Ensembl
RefSeq Acc Id: ENST00000531331   ⟹   ENSP00000432670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,432,401 - 31,456,338 (-)Ensembl
RefSeq Acc Id: ENST00000531693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,456,313 - 31,509,578 (-)Ensembl
RefSeq Acc Id: ENST00000532287   ⟹   ENSP00000435576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,432,401 - 31,509,622 (-)Ensembl
RefSeq Acc Id: ENST00000532624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,452,545 - 31,509,605 (-)Ensembl
RefSeq Acc Id: ENST00000532668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,477,115 - 31,509,608 (-)Ensembl
RefSeq Acc Id: ENST00000533512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,432,402 - 31,433,755 (-)Ensembl
RefSeq Acc Id: ENST00000533642   ⟹   ENSP00000432471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,432,493 - 31,509,645 (-)Ensembl
RefSeq Acc Id: ENST00000533921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,488,197 - 31,509,595 (-)Ensembl
RefSeq Acc Id: ENST00000534812   ⟹   ENSP00000432673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,432,401 - 31,509,592 (-)Ensembl
RefSeq Acc Id: ENST00000648582   ⟹   ENSP00000497019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1131,432,431 - 31,509,594 (-)Ensembl
RefSeq Acc Id: NM_001304274   ⟹   NP_001291203
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
CHM1_11131,453,473 - 31,530,727 (-)NCBI
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBI
Sequence:
RefSeq Acc Id: NM_144981   ⟹   NP_659418
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
GRCh371131,453,948 - 31,531,169 (-)NCBI
Build 361131,410,525 - 31,487,745 (-)NCBI Archive
Celera1131,601,371 - 31,678,615 (-)RGD
HuRef1131,148,356 - 31,225,919 (-)ENTREZGENE
CHM1_11131,453,473 - 31,530,727 (-)NCBI
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005252812   ⟹   XP_005252869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
GRCh371131,453,948 - 31,531,169 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519942   ⟹   XP_011518244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519943   ⟹   XP_011518245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519945   ⟹   XP_011518247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519946   ⟹   XP_011518248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011519947   ⟹   XP_011518249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017305   ⟹   XP_016872794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017306   ⟹   XP_016872795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047426520   ⟹   XP_047282476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
RefSeq Acc Id: XM_047426521   ⟹   XP_047282477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,432,401 - 31,509,622 (-)NCBI
RefSeq Acc Id: XM_054367950   ⟹   XP_054223925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBI
RefSeq Acc Id: XM_054367951   ⟹   XP_054223926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBI
RefSeq Acc Id: XM_054367952   ⟹   XP_054223927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBI
RefSeq Acc Id: XM_054367953   ⟹   XP_054223928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBI
RefSeq Acc Id: XM_054367954   ⟹   XP_054223929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBI
RefSeq Acc Id: XM_054367955   ⟹   XP_054223930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBI
RefSeq Acc Id: XM_054367956   ⟹   XP_054223931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBI
RefSeq Acc Id: XM_054367957   ⟹   XP_054223932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBI
RefSeq Acc Id: XM_054367958   ⟹   XP_054223933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01131,568,225 - 31,645,457 (-)NCBI
RefSeq Acc Id: XM_054367959   ⟹   XP_054223934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01131,568,225 - 31,645,460 (-)NCBI
RefSeq Acc Id: XR_008488358
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01131,569,307 - 31,645,460 (-)NCBI
RefSeq Acc Id: XR_242781
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381131,433,483 - 31,509,622 (-)NCBI
GRCh371131,453,948 - 31,531,169 (-)NCBI
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
  ENSP00000432001.1
  ENSP00000432471.1
  ENSP00000432670.1
  ENSP00000432673.1
  ENSP00000432792.1
  ENSP00000434280.1
  ENSP00000435576
  ENSP00000435576.1
  ENSP00000497019.1
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:
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:
RefSeq Acc Id: NP_001291203   ⟸   NM_001304274
- UniProtKB: D3DQZ7 (UniProtKB/Swiss-Prot),   Q96SH9 (UniProtKB/Swiss-Prot),   Q96LU5 (UniProtKB/Swiss-Prot)
- 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:
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:
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:
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:
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:
RefSeq Acc Id: XP_016872795   ⟸   XM_017017306
- Peptide Label: isoform X2
- 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:
RefSeq Acc Id: ENSP00000497019   ⟸   ENST00000648582
RefSeq Acc Id: ENSP00000432792   ⟸   ENST00000530023
RefSeq Acc Id: ENSP00000432670   ⟸   ENST00000531331
RefSeq Acc Id: ENSP00000435576   ⟸   ENST00000532287
RefSeq Acc Id: ENSP00000432471   ⟸   ENST00000533642
RefSeq Acc Id: ENSP00000432673   ⟸   ENST00000534812
RefSeq Acc Id: ENSP00000434280   ⟸   ENST00000526776
RefSeq Acc Id: ENSP00000278200   ⟸   ENST00000278200
RefSeq 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 AssemblyChrPosition (strand)Source
Build 361131,486,956 - 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 AssemblyChrPosition (strand)Source
GRCh381131,504,882 - 31,504,942EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh381131,509,578 - 31,509,638EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh381131,509,606 - 31,509,666EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26317 AgrOrtholog
COSMIC IMMP1L COSMIC
Ensembl Genes ENSG00000148950 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000278200 ENTREZGENE
  ENST00000278200.5 UniProtKB/Swiss-Prot
  ENST00000526776.5 UniProtKB/TrEMBL
  ENST00000529749.5 UniProtKB/TrEMBL
  ENST00000530023.5 UniProtKB/TrEMBL
  ENST00000531331.1 UniProtKB/TrEMBL
  ENST00000532287 ENTREZGENE
  ENST00000532287.6 UniProtKB/Swiss-Prot
  ENST00000533642.1 UniProtKB/TrEMBL
  ENST00000534812.5 UniProtKB/TrEMBL
  ENST00000648582.1 UniProtKB/TrEMBL
Gene3D-CATH Umud Fragment, subunit A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000148950 GTEx
HGNC ID HGNC:26317 ENTREZGENE
Human Proteome Map IMMP1L Human Proteome Map
InterPro LexA/Signal_pep-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_S26A_signal_pept_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:196294 UniProtKB/Swiss-Prot
NCBI Gene 196294 ENTREZGENE
OMIM 612323 OMIM
PANTHER MITOCHONDRIAL INNER MEMBRANE PROTEASE SUBUNIT 1 UniProtKB/Swiss-Prot
  MITOCHONDRIAL INNER MEMBRANE PROTEASE SUBUNIT 1 UniProtKB/TrEMBL
  MITOCHONDRIAL INNER MEMBRANE PROTEASE SUBUNIT 1 UniProtKB/TrEMBL
  PROTEASE FAMILY S26 MITOCHONDRIAL INNER MEMBRANE PROTEASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_S26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671655 PharmGKB
PRINTS LEADERPTASE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51306 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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