MTCH1 - mitochondrial carrier 1 Gene

Also Known as PSAP; PIG60; CGI-64; SLC25A49

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23787

About MTCH1

Cytogenetic location: 6p21.2 Genomic coordinates (GRCh38): 6:36,968,135-36,986,551 (from NCBI)

This gene has 42 transcripts (splice variants), 187 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 127.6), brain (RPKM 84.7) and 25 other tissues.

Summary

This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces Apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]

MTCH1 Products (4)

mRNA	Protein	Name
NM_001271641.2	NP_001258570.1	mitochondrial carrier homolog 1 isoform PSAP-LL
NM_001410897.1	NP_001397826.1	mitochondrial carrier homolog 1 isoform 3
NM_001410899.1	NP_001397828.1	mitochondrial carrier homolog 1 isoform 4
NM_014341.2	NP_055156.1	mitochondrial carrier homolog 1 isoform PSAP-LS

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables membrane insertase activity	IDA IDA: Inferred from direct assay	36264797	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10551805	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	12377771	GOA
involved in positive regulation of apoptotic process	IEP IEP: Inferred from expression pattern	12377771	GOA
involved in protein insertion into mitochondrial outer membrane	IDA IDA: Inferred from direct assay	36264797	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IMP IMP: Inferred from mutant phenotype	12377771	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTCH1 Protein Structure

Mito_carr

0
100
200
300
389 a.a.

Protein Preferred Names	Protein Names
mitochondrial carrier homolog 1	cell proliferation-inducing protein 60

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 39	Hypomyelination, Global Cerebral Agc1 Deficiency Epileptic Encephalopathy, Early Infantile, 39 DEE39 Eiee39 Aspartate-Glutamate Carrier 1 Deficiency Epileptic Encephalopathy With Global Cerebral Demyelination Developmental And Epileptic Encephalopathy, 39 Early Infantile Epileptic Encephalopathy 39 Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency Global Cerebral Hypomyelination Hereditary Central Nervous System Demyelinating Diseases
Hemoglobin E Disease	Hemoglobin E Hb-E Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08754	MTCH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22651	Mtch1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29166	Mtch1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MTCH1	VGNC	VGNC:55920
Rattus norvegicus	MTCH1	RGD	RGD:1309262
Mus musculus	MTCH1	MGD	MGI:1929261
Macaca mulatta	MTCH1	VGNC	VGNC:74788
Canis familiaris	MTCH1	VGNC	VGNC:43459
Felis catus	MTCH1	VGNC	VGNC:63641
Others	MTCH1	NCBI