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MTCH1 mitochondrial carrier 1 [ Homo sapiens (human) ]

Gene ID: 23787, updated on 7-Jul-2024

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; AllianceGenome:HGNC:17586
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
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Genomic context

See MTCH1 in Genome Data Viewer
Location:
6p21.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (36968135..36986551, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (36791204..36809630, complement)
105.20220307 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 peptidylprolyl isomerase like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24445 Neighboring gene chromosome 6 open reading frame 89 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17122 Neighboring gene Sharpr-MPRA regulatory region 12138 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:36907574-36908164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36926417-36926918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36926919-36927418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:36930796-36931421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:36931422-36932046 Neighboring gene peptidase inhibitor 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36948504-36949104 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:36953526-36954248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24447 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:36960675-36960875 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:36965399-36966022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:36966023-36966646 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:36973029-36973191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36979647-36980146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36981577-36982294 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:36992286-36993485 Neighboring gene FYVE, RhoGEF and PH domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24450 Neighboring gene COX6A1 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

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog

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

Clone Names

  • MGC131998

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables membrane insertase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in 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)

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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
    A8KAX5, B2RCE3, Q6PK60, Q6UX45, Q7L465, Q9BW23, Q9NZJ7, Q9NZR6, Q9UJZ5
    UniProtKB/TrEMBL
    A4FVA6
    Related
    ENSP00000362730.5, ENST00000373627.10
    Conserved Domains (1) summary
    pfam00153
    Location:206264
    Mito_carr; Mitochondrial carrier protein
  2. NM_001410897.1NP_001397826.1  mitochondrial carrier homolog 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL122034
    Consensus CDS
    CCDS93905.1
    UniProtKB/TrEMBL
    A0A8Q3WKC8, Q8IW90
    Related
    ENSP00000511680.1, ENST00000695073.1
  3. NM_001410899.1NP_001397828.1  mitochondrial carrier homolog 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL122034
    Consensus CDS
    CCDS93906.1
    UniProtKB/TrEMBL
    H0Y8C3, Q8IW90
    Related
    ENSP00000419739.2, ENST00000460219.3
  4. 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/TrEMBL
    A4FVA6
    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
    Related
    ENST00000695060.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    36968135..36986551 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    36791204..36809630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)