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MTCH1 mitochondrial carrier 1 [ Homo sapiens (human) ]

Gene ID: 23787, updated on 24-Nov-2020

Summary

Official Symbol
MTCH1provided by HGNC
Official Full Name
mitochondrial carrier 1provided by HGNC
Primary source
HGNC:HGNC:17586
See related
Ensembl:ENSG00000137409 MIM:610449
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PSAP; PIG60; CGI-64; SLC25A49
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]
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]
Expression
Ubiquitous expression in thyroid (RPKM 127.6), brain (RPKM 84.7) and 25 other tissues See more
Orthologs

Genomic context

See MTCH1 in Genome Data Viewer
Location:
6p21.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (36968135..36987171, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (36935911..36954327, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene chromosome 6 open reading frame 89 Neighboring gene peptidylprolyl isomerase like 1 Neighboring gene peptidase inhibitor 16 Neighboring gene FYVE, RhoGEF and PH domain containing 2 Neighboring gene cytochrome c oxidase subunit 6A1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef is identified to have a physical interaction with mitochondrial carrier 1 (MTCH1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131998

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neuronal ion channel clustering NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of apoptotic process IEP
Inferred from Expression Pattern
more info
PubMed 
regulation of signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
mitochondrial carrier homolog 1
Names
cell proliferation-inducing protein 60
presenilin-associated protein
solute carrier family 25, member 49

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001271641.2NP_001258570.1  mitochondrial carrier homolog 1 isoform PSAP-LL

    See identical proteins and their annotated locations for NP_001258570.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, compared to variant 1. The encoded isoform (PSAP-LL, PMID:18291114) is longer compared to isoform PSAP-LS.
    Source sequence(s)
    AL122034
    Consensus CDS
    CCDS64411.1
    UniProtKB/Swiss-Prot
    Q9NZJ7
    UniProtKB/TrEMBL
    A0A024RCX4, A8YXX5
    Related
    ENSP00000362730.5, ENST00000373627.9
    Conserved Domains (1) summary
    pfam00153
    Location:206264
    Mito_carr; Mitochondrial carrier protein
  2. NM_014341.2NP_055156.1  mitochondrial carrier homolog 1 isoform PSAP-LS

    See identical proteins and their annotated locations for NP_055156.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the shorter isoform (PSAP-LS, PMID 18291114).
    Source sequence(s)
    AK315067, AL122034, BC110914, CA412877, DR005492
    Consensus CDS
    CCDS4828.1
    UniProtKB/Swiss-Prot
    Q9NZJ7
    UniProtKB/TrEMBL
    A0A024RD08
    Related
    ENSP00000362718.5, ENST00000373616.9
    Conserved Domains (1) summary
    pfam00153
    Location:206264
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_130739.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK130842, AK225628, AK315067

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    36968135..36987171 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248978.2XP_005249035.1  mitochondrial carrier homolog 1 isoform X1

    Conserved Domains (1) summary
    pfam00153
    Location:206264
    Mito_carr; Mitochondrial carrier protein
  2. XM_017010643.2XP_016866132.1  mitochondrial carrier homolog 1 isoform X5

  3. XM_017010642.1XP_016866131.1  mitochondrial carrier homolog 1 isoform X3

  4. XM_005248979.2XP_005249036.1  mitochondrial carrier homolog 1 isoform X2

    See identical proteins and their annotated locations for XP_005249036.1

    Related
    ENSP00000419739.1, ENST00000460219.2
    Conserved Domains (1) summary
    pfam00153
    Location:206264
    Mito_carr; Mitochondrial carrier protein
  5. XM_011514450.1XP_011512752.1  mitochondrial carrier homolog 1 isoform X4

    See identical proteins and their annotated locations for XP_011512752.1

    UniProtKB/TrEMBL
    B4E0C5
    Conserved Domains (1) summary
    pfam00153
    Location:50108
    Mito_carr; Mitochondrial carrier protein
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