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Gene: MTCH1 (mitochondrial carrier 1) Homo sapiens

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Symbol:

MTCH1

Name:

mitochondrial carrier 1

RGD ID:

1319508

HGNC Page

HGNC:17586

Description:

Enables membrane insertase activity. Involved in positive regulation of apoptotic process and protein insertion into mitochondrial outer membrane. Located in mitochondrion.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

cell proliferation-inducing protein 60; CGI-64; MGC131998; mitochondrial carrier homolog 1; PIG60; presenilin-associated protein; PSAP; SLC25A49; solute carrier family 25, member 49

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Mtch1 (mitochondrial carrier 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Mtch1 (mitochondrial carrier 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Mtch1 (mitochondrial carrier 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MTCH1 (mitochondrial carrier 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	MTCH1 (mitochondrial carrier 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Mtch1 (mitochondrial carrier 1)	NCBI	Ortholog
Sus scrofa (pig):	MTCH1 (mitochondrial carrier 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	MTCH1 (mitochondrial carrier 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Mtch1 (mitochondrial carrier 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Mtch1 (mitochondrial carrier 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Mtch1 (mitochondrial carrier 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG10920	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	mtch-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	Mtch	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	F43E2.11	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PhylomeDB\|SonicParanoid)

Related Pseudogenes:

MTCH1P1 MTCH1P2

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI Annotation Information:

Note: PSAP (Gene ID: 5660) and MTCH1 (Gene ID: 23787) share the PSAP symbol/alias in common. PSAP is a widely used alternative name for mitochondrial carrier 1 (MTCH1), which can be confused with the official symbol for PSAP (prosaposin, GeneID 5660). [01 Jun 2018]

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	36,968,135 - 36,986,551 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,298 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	36,935,911 - 36,954,327 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	37,043,895 - 37,061,927 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	37,043,895 - 37,061,927	NCBI
Celera	6	38,490,892 - 38,508,924 (-)	NCBI		Celera
Cytogenetic Map	6	p21.2	ENTREZGENE
HuRef	6	36,654,248 - 36,672,674 (-)	NCBI		HuRef
CHM1_1	6	36,937,712 - 36,956,128 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	36,791,204 - 36,809,630 (-)	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

proteasome-associated autoinflammatory syndrome 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

(S)-nicotine (ISO)

1,1,1-trichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (ISO)

17beta-estradiol (EXP)

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

3,4-methylenedioxymethamphetamine (ISO)

4-hydroxyphenyl retinamide (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (ISO)

cadmium atom (ISO)

cadmium dichloride (ISO)

caffeine (ISO)

CGP 52608 (EXP)

chloropicrin (EXP)

chlorpyrifos (ISO)

choline (ISO)

corosolic acid (EXP)

diazinon (ISO)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dieldrin (ISO)

disodium selenite (EXP)

divanadium pentaoxide (ISO)

doxorubicin (EXP)

epoxiconazole (ISO)

ethanol (ISO)

folic acid (ISO)

FR900359 (EXP)

furan (ISO)

gentamycin (ISO)

ivermectin (EXP)

L-methionine (ISO)

lipopolysaccharide (EXP)

methyl methanesulfonate (EXP)

nickel dichloride (ISO)

nicotine (ISO)

nitrates (ISO)

p-toluidine (ISO)

paracetamol (EXP)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

sodium arsenate (ISO)

sodium arsenite (EXP)

sodium fluoride (ISO)

sunitinib (EXP)

thiram (EXP)

titanium dioxide (ISO)

triphenyl phosphate (EXP)

trovafloxacin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

apoptotic process (IEA)

neuronal ion channel clustering (NAS)

positive regulation of apoptotic process (IBA,IEP,ISS)

protein insertion into mitochondrial outer membrane (IDA)

regulation of signal transduction (NAS)

Cellular Component

membrane (IBA,IEA)

mitochondrial outer membrane (IEA)

mitochondrion (HTP,IBA,IEA,IMP,ISS)

Molecular Function

membrane insertase activity (IDA)

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
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:8125298	PMID:10551805	PMID:10810093	PMID:12377771	PMID:12477932	PMID:12975309	PMID:14574404	PMID:14702039	PMID:15489334	PMID:17670888	PMID:18022941	PMID:18291114
PMID:18375015	PMID:20379614	PMID:20877624	PMID:21856303	PMID:21873635	PMID:22119785	PMID:22190034	PMID:22277967	PMID:22810586	PMID:22939629	PMID:23207240	PMID:23266187
PMID:24035008	PMID:24344204	PMID:24927181	PMID:25640309	PMID:25925205	PMID:26186194	PMID:26344197	PMID:26496610	PMID:26692143	PMID:26972000	PMID:27432908	PMID:27499296
PMID:28057766	PMID:28298427	PMID:28380382	PMID:28514442	PMID:29180619	PMID:30824926	PMID:31073040	PMID:31980649	PMID:32353859	PMID:32457219	PMID:32807901	PMID:32877691
PMID:33060197	PMID:33567341	PMID:33845483	PMID:33961781	PMID:34079125	PMID:34195286	PMID:34800366	PMID:35915203	PMID:36180527	PMID:36215168	PMID:36264797	PMID:36966392
PMID:37314216	PMID:37550282	PMID:37931956	PMID:38697112	PMID:38803224	PMID:38820930

Genomics

Comparative Map Data

MTCH1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	36,968,135 - 36,986,551 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,298 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	36,935,911 - 36,954,327 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	37,043,895 - 37,061,927 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	37,043,895 - 37,061,927	NCBI
Celera	6	38,490,892 - 38,508,924 (-)	NCBI		Celera
Cytogenetic Map	6	p21.2	ENTREZGENE
HuRef	6	36,654,248 - 36,672,674 (-)	NCBI		HuRef
CHM1_1	6	36,937,712 - 36,956,128 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	36,791,204 - 36,809,630 (-)	NCBI		T2T-CHM13v2.0

Mtch1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	29,551,050 - 29,566,921 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	29,551,046 - 29,566,908 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	29,332,076 - 29,347,947 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	29,332,072 - 29,347,934 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	29,469,021 - 29,484,849 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	29,059,088 - 29,074,916 (-)	NCBI		MGSCv36	mm8
Celera	17	29,874,292 - 29,890,013 (-)	NCBI		Celera
Cytogenetic Map	17	A3.3	NCBI
cM Map	17	15.23	NCBI

Mtch1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	7,391,558 - 7,415,291 (-)	NCBI		GRCr8
mRatBN7.2	20	7,389,942 - 7,413,426 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	7,389,949 - 7,413,426 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	8,100,918 - 8,116,465 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	7,462,777 - 7,478,324 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	7,934,718 - 7,950,248 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	6,937,341 - 6,961,165 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	6,937,347 - 6,961,162 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	9,177,057 - 9,200,881 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	7,649,782 - 7,673,289 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	7,650,009 - 7,673,543 (-)	NCBI
Celera	20	8,935,505 - 8,956,541 (-)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

Mtch1
(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_004955437	6,045,321 - 6,061,086 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955437	6,046,033 - 6,061,086 (+)	NCBI	ChiLan1.0	ChiLan1.0

MTCH1
(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	5	51,436,924 - 51,457,552 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	47,306,697 - 47,327,324 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	36,530,002 - 36,548,412 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	37,725,121 - 37,743,030 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

MTCH1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	6,033,915 - 6,047,881 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	6,033,921 - 6,050,993 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	6,051,738 - 6,070,611 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	6,382,004 - 6,400,870 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	6,377,729 - 6,402,305 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	6,036,687 - 6,055,534 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	6,116,127 - 6,134,986 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	6,214,525 - 6,233,383 (-)	NCBI		UU_Cfam_GSD_1.0

Mtch1
(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_024404946	41,490,083 - 41,507,560 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936476	22,452,954 - 22,470,881 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936476	22,452,670 - 22,470,147 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MTCH1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	32,617,426 - 32,635,575 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	32,617,426 - 32,635,575 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	37,520,860 - 37,539,012 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MTCH1
(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	17	35,156,085 - 35,174,480 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	35,156,285 - 35,175,980 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	36,905,806 - 36,924,210 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mtch1
(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_004624754	20,900,443 - 20,915,302 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624754	20,900,723 - 20,914,894 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MTCH1
20 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_014341.2(MTCH1):c.594C>T (p.Thr198=)	single nucleotide variant	Malignant melanoma [RCV000067337]	Chr6:36977689 [GRCh38] Chr6:36945465 [GRCh37] Chr6:37053443 [NCBI36] Chr6:6p21.2	not provided
NM_001199159.1(PI16):c.1344C>T (p.Leu448=)	single nucleotide variant	Malignant melanoma [RCV000067336]	Chr6:36963896 [GRCh38] Chr6:36931672 [GRCh37] Chr6:37039650 [NCBI36] Chr6:6p21.2	not provided
GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3	copy number gain	See cases [RCV000139390]	Chr6:36858748..37062057 [GRCh38] Chr6:36826524..37029833 [GRCh37] Chr6:36934502..37137811 [NCBI36] Chr6:6p21.2	likely benign
GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1	copy number loss	See cases [RCV000143519]	Chr6:36822889..37159699 [GRCh38] Chr6:36790665..37127475 [GRCh37] Chr6:36898643..37235453 [NCBI36] Chr6:6p21.2	likely pathogenic\|uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
NM_001271641.2(MTCH1):c.1092T>G (p.Ser364Arg)	single nucleotide variant	not specified [RCV004295016]	Chr6:36970045 [GRCh38] Chr6:36937821 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.979C>T (p.Pro327Ser)	single nucleotide variant	not specified [RCV004329596]	Chr6:36970449 [GRCh38] Chr6:36938225 [GRCh37] Chr6:6p21.2	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p21.2(chr6:36776798-37106051)x3	copy number gain	not provided [RCV000848155]	Chr6:36776798..37106051 [GRCh37] Chr6:6p21.2	uncertain significance
GRCh37/hg19 6p21.2(chr6:36880290-36959480)x3	copy number gain	not provided [RCV000846128]	Chr6:36880290..36959480 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.28C>G (p.Pro10Ala)	single nucleotide variant	not specified [RCV004305544]	Chr6:36986146 [GRCh38] Chr6:36953922 [GRCh37] Chr6:6p21.2	uncertain significance
GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	copy number loss	Severe intrauterine growth retardation [RCV001291973]	Chr6:34401304..38435497 [GRCh37] Chr6:6p21.31-21.2	pathogenic
NC_000006.11:g.(?_30695893)_(36953949_?)dup	duplication	Proteasome-associated autoinflammatory syndrome 1 [RCV003113679]	Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2	uncertain significance
NM_001271641.2(MTCH1):c.20A>T (p.Glu7Val)	single nucleotide variant	not specified [RCV004136867]	Chr6:36986154 [GRCh38] Chr6:36953930 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.356C>T (p.Thr119Ile)	single nucleotide variant	not specified [RCV004185079]	Chr6:36981638 [GRCh38] Chr6:36949414 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.134C>T (p.Pro45Leu)	single nucleotide variant	not specified [RCV004176765]	Chr6:36986040 [GRCh38] Chr6:36953816 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.434A>G (p.Lys145Arg)	single nucleotide variant	not specified [RCV004118482]	Chr6:36978584 [GRCh38] Chr6:36946360 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.47C>G (p.Ala16Gly)	single nucleotide variant	not specified [RCV004208217]	Chr6:36986127 [GRCh38] Chr6:36953903 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.5G>C (p.Gly2Ala)	single nucleotide variant	not specified [RCV004075693]	Chr6:36986169 [GRCh38] Chr6:36953945 [GRCh37] Chr6:6p21.2	uncertain significance
NC_000006.11:g.(?_32148920)_(36953949_?)dup	duplication	not provided [RCV003154914]	Chr6:32148920..36953949 [GRCh37] Chr6:6p21.32-21.2	uncertain significance
NM_001271641.2(MTCH1):c.76G>T (p.Ala26Ser)	single nucleotide variant	not specified [RCV004266188]	Chr6:36986098 [GRCh38] Chr6:36953874 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.43G>T (p.Gly15Cys)	single nucleotide variant	not specified [RCV004340618]	Chr6:36986131 [GRCh38] Chr6:36953907 [GRCh37] Chr6:6p21.2	uncertain significance
GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	copy number loss	not provided [RCV003485510]	Chr6:35562152..42003452 [GRCh37] Chr6:6p21.31-21.1	pathogenic
NM_001271641.2(MTCH1):c.292C>T (p.Pro98Ser)	single nucleotide variant	not specified [RCV004508857]	Chr6:36985882 [GRCh38] Chr6:36953658 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.833A>G (p.Asn278Ser)	single nucleotide variant	not specified [RCV004508881]	Chr6:36972725 [GRCh38] Chr6:36940501 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.713G>T (p.Ser238Ile)	single nucleotide variant	not specified [RCV004508872]	Chr6:36975706 [GRCh38] Chr6:36943482 [GRCh37] Chr6:6p21.2	uncertain significance
NC_000006.11:g.(?_35773448)_(36953949_?)del	deletion	not provided [RCV004578894]	Chr6:35773448..36953949 [GRCh37] Chr6:6p21.31-21.2	pathogenic
NM_001271641.2(MTCH1):c.211G>A (p.Gly71Ser)	single nucleotide variant	not specified [RCV004638441]	Chr6:36985963 [GRCh38] Chr6:36953739 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.23T>C (p.Val8Ala)	single nucleotide variant	not specified [RCV004825009]	Chr6:36986151 [GRCh38] Chr6:36953927 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.397T>C (p.Phe133Leu)	single nucleotide variant	not specified [RCV004825010]	Chr6:36981597 [GRCh38] Chr6:36949373 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.383A>G (p.Tyr128Cys)	single nucleotide variant	not specified [RCV004833364]	Chr6:36981611 [GRCh38] Chr6:36949387 [GRCh37] Chr6:6p21.2	uncertain significance
NM_001271641.2(MTCH1):c.214C>A (p.Leu72Met)	single nucleotide variant	not specified [RCV004833363]	Chr6:36985960 [GRCh38] Chr6:36953736 [GRCh37] Chr6:6p21.2	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	1856
Count of miRNA genes:	770
Interacting mature miRNAs:	895
Transcripts:	ENST00000373616, ENST00000373627, ENST00000418541, ENST00000460219, ENST00000471737, ENST00000492754, ENST00000538808
Prediction methods:	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
597343880	GWAS1439954_H	diverticular disease QTL GWAS1439954 (human)		3e-10	diverticular disease		6	36969871	36969872	Human
596973991	GWAS1093510_H	memory performance QTL GWAS1093510 (human)		0.000004	memory performance		6	36982388	36982389	Human
1358839	MULTSCL5_H	Multiple sclerosis susceptibility QTL 5 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human
597198203	GWAS1294277_H	memory performance QTL GWAS1294277 (human)		0.000004	memory performance		6	36982388	36982389	Human
597197326	GWAS1293400_H	memory performance QTL GWAS1293400 (human)		0.000009	memory performance		6	36982388	36982389	Human
596983298	GWAS1102817_H	memory performance QTL GWAS1102817 (human)		0.000009	memory performance		6	36982388	36982389	Human
1298431	RA11_H	Rheumatoid arthritis QTL 11 (human)		0.0000024	Joint/bone inflammation	rheumatoid arthritis	6	19911883	40191709	Human
1358857	MULTSCL19_H	Multiple sclerosis susceptibility QTL 19 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human

Markers in Region

WI-5783

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	36,939,352 - 36,939,503	UniSTS	GRCh37
Build 36	6	37,047,330 - 37,047,481	RGD	NCBI36
Celera	6	38,494,327 - 38,494,478	RGD
Cytogenetic Map	6	p21.2	UniSTS
HuRef	6	36,657,689 - 36,657,840	UniSTS
Whitehead-RH Map	6	188.7	UniSTS

RH93326

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	36,936,520 - 36,936,664	UniSTS	GRCh37
Build 36	6	37,044,498 - 37,044,642	RGD	NCBI36
Celera	6	38,491,495 - 38,491,639	RGD
Cytogenetic Map	6	p21.2	UniSTS
HuRef	6	36,654,857 - 36,655,001	UniSTS
GeneMap99-GB4 RH Map	6	134.05	UniSTS

RH1526

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	36,935,993 - 36,936,130	UniSTS	GRCh37
GRCh37	6	138,970,670 - 138,970,808	UniSTS	GRCh37
Build 36	6	139,012,363 - 139,012,501	RGD	NCBI36
Celera	6	139,710,787 - 139,710,925	RGD
Celera	6	38,490,968 - 38,491,105	UniSTS
Cytogenetic Map	6	p21.2	UniSTS
HuRef	6	36,654,330 - 36,654,467	UniSTS
GeneMap99-GB4 RH Map	6	142.39	UniSTS

RH18159

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	36,936,014 - 36,936,210	UniSTS	GRCh37
Build 36	6	37,043,992 - 37,044,188	RGD	NCBI36
Celera	6	38,490,989 - 38,491,185	RGD
Cytogenetic Map	6	p21.2	UniSTS
HuRef	6	36,654,351 - 36,654,547	UniSTS

D6S1337

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	36,935,922 - 36,936,130	UniSTS	GRCh37
Build 36	6	37,043,900 - 37,044,108	RGD	NCBI36
Celera	6	38,490,897 - 38,491,105	RGD
Cytogenetic Map	6	p21.2	UniSTS
HuRef	6	36,654,259 - 36,654,467	UniSTS
GeneMap99-GB4 RH Map	6	134.05	UniSTS
Whitehead-YAC Contig Map	6		UniSTS

MTCH1_9400

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	36,935,845 - 36,936,685	UniSTS	GRCh37
Build 36	6	37,043,823 - 37,044,663	RGD	NCBI36
Celera	6	38,490,820 - 38,491,660	RGD
HuRef	6	36,654,182 - 36,655,022	UniSTS

MTCH1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	138,971,448 - 138,971,559	UniSTS	GRCh37
GRCh37	6	36,937,835 - 36,938,237	UniSTS	GRCh37
Celera	6	139,711,565 - 139,711,676	UniSTS
Celera	6	38,492,810 - 38,493,212	UniSTS
HuRef	6	36,656,172 - 36,656,574	UniSTS
HuRef	6	136,532,822 - 136,532,933	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	2433	2788	2250	4962	1724	2348	5	623	1950	465	2268	7295	6465	53	3725	1	850	1738	1615	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001271641	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001410897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001410899	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_130739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011514450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017010642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017010643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF151822	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF176006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF189289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF192559	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022783	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK126162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130842	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225628	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303318	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL122034	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358519	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY947344	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000702	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009962	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC040659	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110914	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC125055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC125056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC153873	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA412877	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ871250	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DR005492	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000373616 ⟹ ENSP00000362718

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,141 - 36,986,298 (-)	Ensembl

Ensembl Acc Id:

ENST00000373627 ⟹ ENSP00000362730

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,141 - 36,986,196 (-)	Ensembl

Ensembl Acc Id:

ENST00000418541 ⟹ ENSP00000399187

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,912 - 36,977,673 (-)	Ensembl

Ensembl Acc Id:

ENST00000460219 ⟹ ENSP00000419739

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,969,466 - 36,986,173 (-)	Ensembl

Ensembl Acc Id:

ENST00000471737

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,760 - 36,970,916 (-)	Ensembl

Ensembl Acc Id:

ENST00000492754

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,970,056 - 36,972,676 (-)	Ensembl

Ensembl Acc Id:

ENST00000695042

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,972,024 (-)	Ensembl

Ensembl Acc Id:

ENST00000695043

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,978,837 (-)	Ensembl

Ensembl Acc Id:

ENST00000695044 ⟹ ENSP00000511660

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,984,805 (-)	Ensembl

Ensembl Acc Id:

ENST00000695045 ⟹ ENSP00000511661

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,985,434 (-)	Ensembl

Ensembl Acc Id:

ENST00000695046 ⟹ ENSP00000511662

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,173 (-)	Ensembl

Ensembl Acc Id:

ENST00000695047 ⟹ ENSP00000511663

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,173 (-)	Ensembl

Ensembl Acc Id:

ENST00000695048

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695049 ⟹ ENSP00000511664

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695050 ⟹ ENSP00000511665

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695051 ⟹ ENSP00000511666

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695052

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695053 ⟹ ENSP00000511667

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695054 ⟹ ENSP00000511668

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695055 ⟹ ENSP00000511669

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,965,807 - 36,986,198 (-)	Ensembl

Ensembl Acc Id:

ENST00000695056

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,141 - 36,973,316 (-)	Ensembl

Ensembl Acc Id:

ENST00000695057

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,150 - 36,972,506 (-)	Ensembl

Ensembl Acc Id:

ENST00000695058

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,150 - 36,981,813 (-)	Ensembl

Ensembl Acc Id:

ENST00000695059

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,150 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695060 ⟹ ENSP00000511670

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,150 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695061

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,157 - 36,973,051 (-)	Ensembl

Ensembl Acc Id:

ENST00000695062 ⟹ ENSP00000511671

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,157 - 36,986,173 (-)	Ensembl

Ensembl Acc Id:

ENST00000695063 ⟹ ENSP00000511672

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,157 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695064

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,157 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695065 ⟹ ENSP00000511673

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,157 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695066

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,157 - 36,986,198 (-)	Ensembl

Ensembl Acc Id:

ENST00000695067 ⟹ ENSP00000511674

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,157 - 36,986,198 (-)	Ensembl

Ensembl Acc Id:

ENST00000695068 ⟹ ENSP00000511675

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,157 - 36,986,198 (-)	Ensembl

Ensembl Acc Id:

ENST00000695069 ⟹ ENSP00000511676

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,157 - 36,986,198 (-)	Ensembl

Ensembl Acc Id:

ENST00000695070 ⟹ ENSP00000511677

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,158 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695071 ⟹ ENSP00000511678

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,158 - 36,986,192 (-)	Ensembl

Ensembl Acc Id:

ENST00000695072 ⟹ ENSP00000511679

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,158 - 36,986,209 (-)	Ensembl

Ensembl Acc Id:

ENST00000695073 ⟹ ENSP00000511680

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,448 - 36,986,209 (-)	Ensembl

Ensembl Acc Id:

ENST00000695074 ⟹ ENSP00000511681

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,479 - 36,986,173 (-)	Ensembl

Ensembl Acc Id:

ENST00000695075 ⟹ ENSP00000511682

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,873 - 36,986,198 (-)	Ensembl

Ensembl Acc Id:

ENST00000695076

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,968,875 - 36,986,198 (-)	Ensembl

Ensembl Acc Id:

ENST00000695077

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	36,978,970 - 36,985,872 (-)	Ensembl

RefSeq Acc Id:

NM_001271641 ⟹ NP_001258570

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	36,968,141 - 36,986,196 (-)	NCBI
GRCh37	6	36,935,911 - 36,954,327 (-)	NCBI
HuRef	6	36,654,248 - 36,672,674 (-)	NCBI
CHM1_1	6	36,937,712 - 36,956,128 (-)	NCBI
T2T-CHM13v2.0	6	36,791,210 - 36,809,275 (-)	NCBI

Sequence:

show sequence

GAGTGACCTCGCCGCCGGGCGCCATGGGAGCTTCGGACCCGGAAGTGGCGCCCTGGGCTCGCGG
CGGTGCCGCGGGGATGGCGGGAGCCGGAGCTGGAGCCGGAGCTCGCGGCGGAGCGGCGGCGGGG
GTCGAGGCTCGAGCTCGCGATCCACCGCCCGCGCACCGCGCACATCCTCGCCACCCTCGGCCTG
CGGCTCAGCCCTCGGCCCGCAGGATGGATGGCGGGTCAGGGGGCCTGGGGTCTGGGGACAACGC
CCCGACCACTGAGGCTCTTTTCGTGGCACTGGGCGCGGGCGTGACGGCGCTCAGCCATCCCCTG
CTCTACGTGAAGCTGCTCATCCAGGTGGGTCATGAGCCGATGCCCCCCACCCTTGGGACCAATG
TGCTGGGGAGGAAGGTCCTCTATCTGCCGAGCTTCTTCACCTACGCCAAGTACATCGTGCAAGT
GGATGGTAAGATAGGGCTGTTCCGAGGCCTGAGTCCCCGGCTGATGTCCAACGCCCTCTCTACT
GTGACTCGGGGTAGCATGAAGAAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGG
ATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGACCTCCTACGAGATGATGATGCAGTG
TGTGTCCCGCATGTTGGCCCACCCCCTGCATGTCATCTCAATGCGCTGCATGGTCCAGTTTGTG
GGACGGGAGGCCAAGTACAGTGGTGTGCTGAGCTCCATTGGGAAGATTTTCAAAGAGGAAGGGC
TGCTGGGATTCTTCGTTGGATTAATCCCTCACCTCCTGGGCGATGTGGTTTTCTTGTGGGGCTG
TAACCTGCTGGCCCACTTCATCAATGCCTACCTGGTGGATGACAGCGTGAGTGACACCCCAGGG
GGGCTGGGAAACGACCAGAATCCAGGTTCCCAGTTCAGCCAGGCCCTGGCCATCCGGAGCTATA
CCAAGTTCGTGATGGGGATTGCAGTGAGCATGCTGACCTACCCCTTCCTGCTAGTTGGCGACCT
CATGGCTGTGAACAACTGCGGGCTGCAAGCTGGGCTCCCCCCTTACTCCCCAGTGTTCAAATCC
TGGATTCACTGCTGGAAGTACCTGAGTGTGCAGGGCCAGCTCTTCCGAGGCTCCAGCCTGCTTT
TCCGCCGGGTGTCATCAGGATCATGCTTTGCCCTGGAGTAACCTGAATCATCTAAAAAACACGG
TCTCAACCTGGCCACCGTGGGTGAGGCCTGACCACCTTGGGACACCTGCAAGACGACTCCAACC
CAACAACAACCAGATGTGCTCCAGCCCAGCCGGGCTTCAGTTCCATATTTGCCATGTGTCTGTC
CAGATGTGGGGTTGAGCGGGGGTGGGGCTGCACCCAGTGGATTGGGTCACCCGGCAGACCTAGG
GAAGGTGAGGCGAGGTGGGGAGTTGGCAGAATCCCCATACCTCGCAGATTTGCTGAGTCTGTCT
TGTGCAGAGGGCCAGAGAATGGCTTATGGGGGCCCAGGTTGGATGGGGAAAGGCTAATGGGGTC
AGACCCCACCCCGTCTACCCCTCCAGTCAGCCCAGCGCCCATCCTGCAGCTCAGCTGGGAGCAT
CATTCTCCTGCTTTGTACATAGGGTGTGGTCCCCTGGCACGTGGCCACCATCATGTCTAGGCCT
ATGCTAGGAGGCAAATGGCCAGGCTCTGCCTGTGTTTTTCTCAACACTACTTTTCTGATATGAG
GGCAGCACCTGCCTCTGAATGGGAAATCATGCAACTACTCAGAATGTGTCCTCCTCATCTAATG
CTCATCTGTTTAATGGTGATGCCTCGCGTACAGGATCTGGTTACCTGTGCAGTTGTGAATACCC
AGAGGTTGGGCAGATCAGTGTCTCTAGTCCTACCCAGTTTTAAAGTTCATGGTAAGATTTGACC
TCATCTCCCGCAAATAAATGTATTGGTGATTTGGA

hide sequence

RefSeq Acc Id:

NM_001410897 ⟹ NP_001397826

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	36,968,141 - 36,986,506 (-)	NCBI
T2T-CHM13v2.0	6	36,791,210 - 36,809,585 (-)	NCBI

RefSeq Acc Id:

NM_001410899 ⟹ NP_001397828

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	36,968,141 - 36,986,506 (-)	NCBI
T2T-CHM13v2.0	6	36,791,210 - 36,809,585 (-)	NCBI

RefSeq Acc Id:

NM_014341 ⟹ NP_055156

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	36,968,135 - 36,986,551 (-)	NCBI
GRCh37	6	36,935,911 - 36,954,327 (-)	NCBI
Build 36	6	37,043,895 - 37,061,927 (-)	NCBI Archive
Celera	6	38,490,892 - 38,508,924 (-)	RGD
HuRef	6	36,654,248 - 36,672,674 (-)	NCBI
CHM1_1	6	36,937,712 - 36,956,128 (-)	NCBI
T2T-CHM13v2.0	6	36,791,204 - 36,809,630 (-)	NCBI

Sequence:

show sequence

GCAGAGAAAACTCCCGAAGCCAGGGAGGTGGCTTGGAAGCGCCTCAGACCATATTGGGGACGTC
TGGCAGCCAGAGGCGCCGAACCCCGCCCCCGCGTGCTCTGGGCATCCCGGGGGAGCGCCCCGGC
CTGCGGCTGCCGCCACAGCTCCCGAGCCCGGGGCCCCGGCTGCCCGCCACCATTGACCCCCGGC
CCGCAGCCCAGTGTCCTGCTAGGCCTCCAACCGGCCGGGGAGCCACATCCGGCGTGTCCCACCC
GCCGCACCACGCTCCCGAGCTCCCCCGCGGCCTGGAGTGGTGCGCCCCGGCCCCGCCCCCTGAC
GCCGGTGAGGGGGCGTGGCCCCGTCACGTGACGGGGAGTGACCTCGCCGCCGGGCGCCATGGGA
GCTTCGGACCCGGAAGTGGCGCCCTGGGCTCGCGGCGGTGCCGCGGGGATGGCGGGAGCCGGAG
CTGGAGCCGGAGCTCGCGGCGGAGCGGCGGCGGGGGTCGAGGCTCGAGCTCGCGATCCACCGCC
CGCGCACCGCGCACATCCTCGCCACCCTCGGCCTGCGGCTCAGCCCTCGGCCCGCAGGATGGAT
GGCGGGTCAGGGGGCCTGGGGTCTGGGGACAACGCCCCGACCACTGAGGCTCTTTTCGTGGCAC
TGGGCGCGGGCGTGACGGCGCTCAGCCATCCCCTGCTCTACGTGAAGCTGCTCATCCAGGTGGG
TCATGAGCCGATGCCCCCCACCCTTGGGACCAATGTGCTGGGGAGGAAGGTCCTCTATCTGCCG
AGCTTCTTCACCTACGCCAAGTACATCGTGCAAGTGGATGGTAAGATAGGGCTGTTCCGAGGCC
TGAGTCCCCGGCTGATGTCCAACGCCCTCTCTACTGTGACTCGGGGTAGCATGAAGAAGGTTTT
CCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTT
GTGAAGGAGACCTCCTACGAGATGATGATGCAGTGTGTGTCCCGCATGTTGGCCCACCCCCTGC
ATGTCATCTCAATGCGCTGCATGGTCCAGTTTGTGGGACGGGAGGCCAAGTACAGTGGTGTGCT
GAGCTCCATTGGGAAGATTTTCAAAGAGGAAGGGCTGCTGGGATTCTTCGTTGGATTAATCCCT
CACCTCCTGGGCGATGTGGTTTTCTTGTGGGGCTGTAACCTGCTGGCCCACTTCATCAATGCCT
ACCTGGTGGATGACAGCTTCAGCCAGGCCCTGGCCATCCGGAGCTATACCAAGTTCGTGATGGG
GATTGCAGTGAGCATGCTGACCTACCCCTTCCTGCTAGTTGGCGACCTCATGGCTGTGAACAAC
TGCGGGCTGCAAGCTGGGCTCCCCCCTTACTCCCCAGTGTTCAAATCCTGGATTCACTGCTGGA
AGTACCTGAGTGTGCAGGGCCAGCTCTTCCGAGGCTCCAGCCTGCTTTTCCGCCGGGTGTCATC
AGGATCATGCTTTGCCCTGGAGTAACCTGAATCATCTAAAAAACACGGTCTCAACCTGGCCACC
GTGGGTGAGGCCTGACCACCTTGGGACACCTGCAAGACGACTCCAACCCAACAACAACCAGATG
TGCTCCAGCCCAGCCGGGCTTCAGTTCCATATTTGCCATGTGTCTGTCCAGATGTGGGGTTGAG
CGGGGGTGGGGCTGCACCCAGTGGATTGGGTCACCCGGCAGACCTAGGGAAGGTGAGGCGAGGT
GGGGAGTTGGCAGAATCCCCATACCTCGCAGATTTGCTGAGTCTGTCTTGTGCAGAGGGCCAGA
GAATGGCTTATGGGGGCCCAGGTTGGATGGGGAAAGGCTAATGGGGTCAGACCCCACCCCGTCT
ACCCCTCCAGTCAGCCCAGCGCCCATCCTGCAGCTCAGCTGGGAGCATCATTCTCCTGCTTTGT
ACATAGGGTGTGGTCCCCTGGCACGTGGCCACCATCATGTCTAGGCCTATGCTAGGAGGCAAAT
GGCCAGGCTCTGCCTGTGTTTTTCTCAACACTACTTTTCTGATATGAGGGCAGCACCTGCCTCT
GAATGGGAAATCATGCAACTACTCAGAATGTGTCCTCCTCATCTAATGCTCATCTGTTTAATGG
TGATGCCTCGCGTACAGGATCTGGTTACCTGTGCAGTTGTGAATACCCAGAGGTTGGGCAGATC
AGTGTCTCTAGTCCTACCCAGTTTTAAAGTTCATGGTAAGATTTGACCTCATCTCCCGCAAATA
AATGTATTGGTGATTTGGAGTTTTTAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NR_130739

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	36,968,141 - 36,986,196 (-)	NCBI
CHM1_1	6	36,937,712 - 36,956,128 (-)	NCBI
T2T-CHM13v2.0	6	36,791,210 - 36,809,275 (-)	NCBI

Sequence:

show sequence

GAGTGACCTCGCCGCCGGGCGCCATGGGAGCTTCGGACCCGGAAGTGGCGCCCTGGGCTCGCGG
CGGTGCCGCGGGGATGGCGGGAGCCGGAGCTGGAGCCGGAGCTCGCGGCGGAGCGGCGGCGGGG
GTCGAGGCTCGAGCTCGCGATCCACCGCCCGCGCACCGCGCACATCCTCGCCACCCTCGGCCTG
CGGCTCAGCCCTCGGCCCGCAGGATGGATGGCGGGTCAGGGGGCCTGGGGTCTGGGGACAACGC
CCCGACCACTGAGGCTCTTTTCGTGGCACTGGGCGCGGGCGTGACGGCGCTCAGCCATCCCCTG
CTCTACGTGAAGCTGCTCATCCAGGTGGGTCATGAGCCGATGCCCCCCACCCTTGGGACCAATG
TGCTGGGGAGGAAGGTCCTCTATCTGCCGAGCTTCTTCACCTACGCCAAGTACATCGTGCAAGT
GGATGGTAAGATAGGGCTGTTCCGAGGCCTGAGTCCCCGGCTGATGTCCAACGCCCTCTCTACT
GTGACTCGGGGTAGCATGAAGAAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGG
ATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTTTCTCCCTCCTGAGCACTTGTAGC
TCCCCTCGAGGGCCAGTTCCAGAGACAGGCCGAGGGTGGCGAGTCCCCACCCCATGCTCTCTTC
CAGACCTCCTACGAGATGATGATGCAGTGTGTGTCCCGCATGTTGGCCCACCCCCTGCATGTCA
TCTCAATGCGCTGCATGGTCCAGTTTGTGGGACGGGAGGCCAAGTACAGTGGTGTGCTGAGCTC
CATTGGGAAGATTTTCAAAGAGGAAGGGCTGCTGGGATTCTTCGTTGGATTAATCCCTCACCTC
CTGGGCGATGTGGTTTTCTTGTGGGGCTGTAACCTGCTGGCCCACTTCATCAATGCCTACCTGG
TGGATGACAGCTTCAGCCAGGCCCTGGCCATCCGGAGCTATACCAAGTTCGTGATGGGGATTGC
AGTGAGCATGCTGACCTACCCCTTCCTGCTAGTTGGCGACCTCATGGCTGTGAACAACTGCGGG
CTGCAAGCTGGGCTCCCCCCTTACTCCCCAGTGTTCAAATCCTGGATTCACTGCTGGAAGTACC
TGAGTGTGCAGGGCCAGCTCTTCCGAGGCTCCAGCCTGCTTTTCCGCCGGGTGTCATCAGGATC
ATGCTTTGCCCTGGAGTAACCTGAATCATCTAAAAAACACGGTCTCAACCTGGCCACCGTGGGT
GAGGCCTGACCACCTTGGGACACCTGCAAGACGACTCCAACCCAACAACAACCAGATGTGCTCC
AGCCCAGCCGGGCTTCAGTTCCATATTTGCCATGTGTCTGTCCAGATGTGGGGTTGAGCGGGGG
TGGGGCTGCACCCAGTGGATTGGGTCACCCGGCAGACCTAGGGAAGGTGAGGCGAGGTGGGGAG
TTGGCAGAATCCCCATACCTCGCAGATTTGCTGAGTCTGTCTTGTGCAGAGGGCCAGAGAATGG
CTTATGGGGGCCCAGGTTGGATGGGGAAAGGCTAATGGGGTCAGACCCCACCCCGTCTACCCCT
CCAGTCAGCCCAGCGCCCATCCTGCAGCTCAGCTGGGAGCATCATTCTCCTGCTTTGTACATAG
GGTGTGGTCCCCTGGCACGTGGCCACCATCATGTCTAGGCCTATGCTAGGAGGCAAATGGCCAG
GCTCTGCCTGTGTTTTTCTCAACACTACTTTTCTGATATGAGGGCAGCACCTGCCTCTGAATGG
GAAATCATGCAACTACTCAGAATGTGTCCTCCTCATCTAATGCTCATCTGTTTAATGGTGATGC
CTCGCGTACAGGATCTGGTTACCTGTGCAGTTGTGAATACCCAGAGGTTGGGCAGATCAGTGTC
TCTAGTCCTACCCAGTTTTAAAGTTCATGGTAAGATTTGACCTCATCTCCCGCAAATAAATGTA
TTGGTGATTTGGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001258570	(Get FASTA)	NCBI Sequence Viewer
	NP_001397826	(Get FASTA)	NCBI Sequence Viewer
	NP_001397828	(Get FASTA)	NCBI Sequence Viewer
	NP_055156	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD34059	(Get FASTA)	NCBI Sequence Viewer
	AAD52644	(Get FASTA)	NCBI Sequence Viewer
	AAF07936	(Get FASTA)	NCBI Sequence Viewer
	AAF12793	(Get FASTA)	NCBI Sequence Viewer
	AAH00702	(Get FASTA)	NCBI Sequence Viewer
	AAH06507	(Get FASTA)	NCBI Sequence Viewer
	AAH09962	(Get FASTA)	NCBI Sequence Viewer
	AAH40659	(Get FASTA)	NCBI Sequence Viewer
	AAI10915	(Get FASTA)	NCBI Sequence Viewer
	AAI25057	(Get FASTA)	NCBI Sequence Viewer
	AAI53874	(Get FASTA)	NCBI Sequence Viewer
	AAQ88883	(Get FASTA)	NCBI Sequence Viewer
	AAY57875	(Get FASTA)	NCBI Sequence Viewer
	BAG37540	(Get FASTA)	NCBI Sequence Viewer
	BAG51115	(Get FASTA)	NCBI Sequence Viewer
	BAG64387	(Get FASTA)	NCBI Sequence Viewer
	CAH56806	(Get FASTA)	NCBI Sequence Viewer
	EAX03925	(Get FASTA)	NCBI Sequence Viewer
	EAX03926	(Get FASTA)	NCBI Sequence Viewer
	EAX03927	(Get FASTA)	NCBI Sequence Viewer
	EAX03928	(Get FASTA)	NCBI Sequence Viewer
	EAX03929	(Get FASTA)	NCBI Sequence Viewer
	EAX03930	(Get FASTA)	NCBI Sequence Viewer
	EAX03931	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000362718
	ENSP00000362718.5
	ENSP00000362730
	ENSP00000362730.5
	ENSP00000399187.2
	ENSP00000419739
	ENSP00000419739.2
	ENSP00000511660.1
	ENSP00000511661.1
	ENSP00000511662.1
	ENSP00000511663.1
	ENSP00000511664.1
	ENSP00000511665.1
	ENSP00000511666.1
	ENSP00000511667.1
	ENSP00000511668.1
	ENSP00000511669.1
	ENSP00000511670.1
	ENSP00000511671.1
	ENSP00000511672.1
	ENSP00000511673.1
	ENSP00000511674.1
	ENSP00000511675.1
	ENSP00000511676.1
	ENSP00000511677.1
	ENSP00000511678.1
	ENSP00000511679.1
	ENSP00000511680
	ENSP00000511680.1
	ENSP00000511681.1
	ENSP00000511682.1
GenBank Protein	Q9NZJ7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_055156 ⟸ NM_014341
- Peptide Label:	isoform PSAP-LS
- UniProtKB:	A4FVA6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGASDPEVAPWARGGAAGMAGAGAGAGARGGAAAGVEARARDPPPAHRAHPRHPRPAAQPSARR MDGGSGGLGSGDNAPTTEALFVALGAGVTALSHPLLYVKLLIQVGHEPMPPTLGTNVLGRKVLY LPSFFTYAKYIVQVDGKIGLFRGLSPRLMSNALSTVTRGSMKKVFPPDEIEQVSNKDDMKTSLK KVVKETSYEMMMQCVSRMLAHPLHVISMRCMVQFVGREAKYSGVLSSIGKIFKEEGLLGFFVGL IPHLLGDVVFLWGCNLLAHFINAYLVDDSFSQALAIRSYTKFVMGIAVSMLTYPFLLVGDLMAV NNCGLQAGLPPYSPVFKSWIHCWKYLSVQGQLFRGSSLLFRRVSSGSCFALE hide sequence

RefSeq Acc Id:	NP_001258570 ⟸ NM_001271641
- Peptide Label:	isoform PSAP-LL
- UniProtKB:	Q9NZR6 (UniProtKB/Swiss-Prot), Q9BW23 (UniProtKB/Swiss-Prot), Q7L465 (UniProtKB/Swiss-Prot), Q6UX45 (UniProtKB/Swiss-Prot), Q6PK60 (UniProtKB/Swiss-Prot), B2RCE3 (UniProtKB/Swiss-Prot), A8KAX5 (UniProtKB/Swiss-Prot), Q9UJZ5 (UniProtKB/Swiss-Prot), Q9NZJ7 (UniProtKB/Swiss-Prot), A4FVA6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGASDPEVAPWARGGAAGMAGAGAGAGARGGAAAGVEARARDPPPAHRAHPRHPRPAAQPSARR MDGGSGGLGSGDNAPTTEALFVALGAGVTALSHPLLYVKLLIQVGHEPMPPTLGTNVLGRKVLY LPSFFTYAKYIVQVDGKIGLFRGLSPRLMSNALSTVTRGSMKKVFPPDEIEQVSNKDDMKTSLK KVVKETSYEMMMQCVSRMLAHPLHVISMRCMVQFVGREAKYSGVLSSIGKIFKEEGLLGFFVGL IPHLLGDVVFLWGCNLLAHFINAYLVDDSVSDTPGGLGNDQNPGSQFSQALAIRSYTKFVMGIA VSMLTYPFLLVGDLMAVNNCGLQAGLPPYSPVFKSWIHCWKYLSVQGQLFRGSSLLFRRVSSGS CFALE hide sequence

Ensembl Acc Id:

ENSP00000362718 ⟸ ENST00000373616

Ensembl Acc Id:

ENSP00000362730 ⟸ ENST00000373627

Ensembl Acc Id:

ENSP00000399187 ⟸ ENST00000418541

Ensembl Acc Id:

ENSP00000419739 ⟸ ENST00000460219

Ensembl Acc Id:

ENSP00000511674 ⟸ ENST00000695067

Ensembl Acc Id:

ENSP00000511668 ⟸ ENST00000695054

Ensembl Acc Id:

ENSP00000511673 ⟸ ENST00000695065

Ensembl Acc Id:

ENSP00000511677 ⟸ ENST00000695070

Ensembl Acc Id:

ENSP00000511664 ⟸ ENST00000695049

Ensembl Acc Id:

ENSP00000511682 ⟸ ENST00000695075

Ensembl Acc Id:

ENSP00000511667 ⟸ ENST00000695053

Ensembl Acc Id:

ENSP00000511679 ⟸ ENST00000695072

Ensembl Acc Id:

ENSP00000511672 ⟸ ENST00000695063

Ensembl Acc Id:

ENSP00000511680 ⟸ ENST00000695073

Ensembl Acc Id:

ENSP00000511663 ⟸ ENST00000695047

Ensembl Acc Id:

ENSP00000511661 ⟸ ENST00000695045

Ensembl Acc Id:

ENSP00000511660 ⟸ ENST00000695044

Ensembl Acc Id:

ENSP00000511681 ⟸ ENST00000695074

Ensembl Acc Id:

ENSP00000511665 ⟸ ENST00000695050

Ensembl Acc Id:

ENSP00000511666 ⟸ ENST00000695051

Ensembl Acc Id:

ENSP00000511676 ⟸ ENST00000695069

Ensembl Acc Id:

ENSP00000511675 ⟸ ENST00000695068

Ensembl Acc Id:

ENSP00000511669 ⟸ ENST00000695055

Ensembl Acc Id:

ENSP00000511670 ⟸ ENST00000695060

Ensembl Acc Id:

ENSP00000511678 ⟸ ENST00000695071

Ensembl Acc Id:

ENSP00000511671 ⟸ ENST00000695062

Ensembl Acc Id:

ENSP00000511662 ⟸ ENST00000695046

RefSeq Acc Id:	NP_001397828 ⟸ NM_001410899
- Peptide Label:	isoform 4
- UniProtKB:	Q8IW90 (UniProtKB/TrEMBL), H0Y8C3 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001397826 ⟸ NM_001410897
- Peptide Label:	isoform 3
- UniProtKB:	Q8IW90 (UniProtKB/TrEMBL), A0A8Q3WKC8 (UniProtKB/TrEMBL)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9NZJ7-F1-model_v2	AlphaFold	Q9NZJ7	1-389	view protein structure

Promoters

RGD ID:

6804471

Promoter ID:

HG_KWN:53391

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Lymphoblastoid

Transcripts:

OTTHUMT00000040392

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	37,046,581 - 37,047,532 (-)	MPROMDB

RGD ID:

6804470

Promoter ID:

HG_KWN:53393

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

OTTHUMT00000040390, OTTHUMT00000040391

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	37,053,361 - 37,054,182 (-)	MPROMDB

RGD ID:

6804476

Promoter ID:

HG_KWN:53395

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:

ENST00000337855, ENST00000373550, ENST00000373565, OTTHUMT00000040389, OTTHUMT00000040396, UC003ONE.2, UC010JWO.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	37,061,871 - 37,062,982 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17586	AgrOrtholog
COSMIC	MTCH1	COSMIC
Ensembl Genes	ENSG00000137409	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000373616	ENTREZGENE
	ENST00000373616.9	UniProtKB/Swiss-Prot
	ENST00000373627	ENTREZGENE
	ENST00000373627.10	UniProtKB/Swiss-Prot
	ENST00000418541.6	UniProtKB/TrEMBL
	ENST00000460219	ENTREZGENE
	ENST00000460219.3	UniProtKB/TrEMBL
	ENST00000695044.1	UniProtKB/TrEMBL
	ENST00000695045.1	UniProtKB/TrEMBL
	ENST00000695046.1	UniProtKB/TrEMBL
	ENST00000695047.1	UniProtKB/TrEMBL
	ENST00000695049.1	UniProtKB/TrEMBL
	ENST00000695050.1	UniProtKB/TrEMBL
	ENST00000695051.1	UniProtKB/TrEMBL
	ENST00000695053.1	UniProtKB/TrEMBL
	ENST00000695054.1	UniProtKB/TrEMBL
	ENST00000695055.1	UniProtKB/TrEMBL
	ENST00000695060	ENTREZGENE
	ENST00000695060.1	UniProtKB/TrEMBL
	ENST00000695062.1	UniProtKB/TrEMBL
	ENST00000695063.1	UniProtKB/TrEMBL
	ENST00000695065.1	UniProtKB/TrEMBL
	ENST00000695067.1	UniProtKB/TrEMBL
	ENST00000695068.1	UniProtKB/TrEMBL
	ENST00000695069.1	UniProtKB/TrEMBL
	ENST00000695070.1	UniProtKB/TrEMBL
	ENST00000695071.1	UniProtKB/TrEMBL
	ENST00000695072.1	UniProtKB/TrEMBL
	ENST00000695073	ENTREZGENE
	ENST00000695073.1	UniProtKB/TrEMBL
	ENST00000695074.1	UniProtKB/TrEMBL
	ENST00000695075.1	UniProtKB/TrEMBL
Gene3D-CATH	1.50.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000137409	GTEx
HGNC ID	HGNC:17586	ENTREZGENE
Human Proteome Map	MTCH1	Human Proteome Map
InterPro	Mitochondrial_sb/sol_carrier	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Mt_carrier_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:23787	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	23787	ENTREZGENE
OMIM	610449	OMIM
PANTHER	MITOCHONDRIAL CARRIER HOMOLOG	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MITOCHONDRIAL CARRIER HOMOLOG 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Mito_carr	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134958992	PharmGKB
PROSITE	SOLCAR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF103506	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A8Q3SHJ3_HUMAN	UniProtKB/TrEMBL
	A0A8Q3SHJ6_HUMAN	UniProtKB/TrEMBL
	A0A8Q3SHK9_HUMAN	UniProtKB/TrEMBL
	A0A8Q3SHP2_HUMAN	UniProtKB/TrEMBL
	A0A8Q3SHP5_HUMAN	UniProtKB/TrEMBL
	A0A8Q3SHP9_HUMAN	UniProtKB/TrEMBL
	A0A8Q3SHR5_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WKA3_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WKA4_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WKA5_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WKC1_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WKC8	ENTREZGENE, UniProtKB/TrEMBL
	A0A8Q3WKF6_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WKU8_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WLF0_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WLQ4_HUMAN	UniProtKB/TrEMBL
	A0A8Q3WLQ9_HUMAN	UniProtKB/TrEMBL
	A4FVA6	ENTREZGENE, UniProtKB/TrEMBL
	A8KAX5	ENTREZGENE
	A8YXX5_HUMAN	UniProtKB/TrEMBL
	B2RCE3	ENTREZGENE
	H0Y8C3	ENTREZGENE, UniProtKB/TrEMBL
	H7C196_HUMAN	UniProtKB/TrEMBL
	MTCH1_HUMAN	UniProtKB/Swiss-Prot
	Q6PK60	ENTREZGENE
	Q6UX45	ENTREZGENE
	Q7L465	ENTREZGENE
	Q8IW90	ENTREZGENE, UniProtKB/TrEMBL
	Q9BW23	ENTREZGENE
	Q9NZJ7	ENTREZGENE
	Q9NZR6	ENTREZGENE
	Q9UJZ5	ENTREZGENE
UniProt Secondary	A8KAX5	UniProtKB/Swiss-Prot
	B2RCE3	UniProtKB/Swiss-Prot
	Q6PK60	UniProtKB/Swiss-Prot
	Q6UX45	UniProtKB/Swiss-Prot
	Q7L465	UniProtKB/Swiss-Prot
	Q9BW23	UniProtKB/Swiss-Prot
	Q9NZR6	UniProtKB/Swiss-Prot
	Q9UJZ5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-07-27	MTCH1	mitochondrial carrier 1	MTCH1	mitochondrial carrier homolog 1 (C. elegans)	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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Imported Disease Annotations - ClinVar