U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

MTCH1 mitochondrial carrier 1 [ Homo sapiens (human) ]

Gene ID: 23787, updated on 3-Apr-2024

Summary

Go to the top of the page Help
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Upregulation Mitochondrial Carrier 1 (MTCH1) Is Associated with Cell Proliferation, Invasion, and Migration of Liver Hepatocellular Carcinoma. Chen G, et al. Biomed Res Int, 2021. PMID 34195286, Free PMC Article
  2. Mitochondrial carrier homolog 1 (Mtch1) antibodies in neuro-Behçet's disease. Vural B, et al. J Neuroimmunol, 2013 Oct 15. PMID 24035008
  3. Exposure of any of two proapoptotic domains of presenilin 1-associated protein/mitochondrial carrier homolog 1 on the surface of mitochondria is sufficient for induction of apoptosis in a Bax/Bak-independent manner. Lamarca V, et al. Eur J Cell Biol, 2008 May. PMID 18375015
  4. Two isoforms of PSAP/MTCH1 share two proapoptotic domains and multiple internal signals for import into the mitochondrial outer membrane. Lamarca V, et al. Am J Physiol Cell Physiol, 2007 Oct. PMID 17670888
  5. Early growth response 1 (EGR-1) is a transcriptional regulator of mitochondrial carrier homolog 1 (MTCH 1)/presenilin 1-associated protein (PSAP). Nelo-Bazán MA, et al. Gene, 2016 Mar 1. PMID 26692143

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mitochondrial carrier 1 (MTCH1) governs ferroptosis by triggering the FoxO1-GPX4 axis-mediated retrograde signaling in cervical cancer cells.
    Title: Mitochondrial carrier 1 (MTCH1) governs ferroptosis by triggering the FoxO1-GPX4 axis-mediated retrograde signaling in cervical cancer cells.
  2. Upregulation Mitochondrial Carrier 1 (MTCH1) Is Associated with Cell Proliferation, Invasion, and Migration of Liver Hepatocellular Carcinoma.
    Title: Upregulation Mitochondrial Carrier 1 (MTCH1) Is Associated with Cell Proliferation, Invasion, and Migration of Liver Hepatocellular Carcinoma.
  3. Data suggest that the transmembrane domain of Bcl-XL could be involved in protein oligomerization, shown here with presenilin-1 associated protein.
    Title: Protein oligomerization mediated by the transmembrane carboxyl terminal domain of Bcl-XL.
  4. Results indicate that EGR-1 is a transcriptional regulator of MTCH1 and give some clues about the cellular processes in which MTCH1 might participate.
    Title: Early growth response 1 (EGR-1) is a transcriptional regulator of mitochondrial carrier homolog 1 (MTCH 1)/presenilin 1-associated protein (PSAP).
  5. Mtch1 antibody positive neuro-Bechet's disease patients had more attacks, increased disability and lower serum nucleosome levels.
    Title: Mitochondrial carrier homolog 1 (Mtch1) antibodies in neuro-Behçet's disease.
  6. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
  7. Data indicate that the formation of cytochrome c-Apaf-1 apoptosome and the presence of Smac are absolutely required for PSAP-induced apoptosis.
    Title: PSAP induces a unique Apaf-1 and Smac-dependent mitochondrial apoptotic pathway independent of Bcl-2 family proteins.
  8. Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
    Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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 
Process Evidence Code Pubs
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in neuronal ion channel clustering NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of apoptotic process IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in protein insertion into mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of signal transduction NAS
Non-traceable Author Statement
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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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_001271641.2 → NP_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:206 → 264
    Mito_carr; Mitochondrial carrier protein

  2. NM_001410897.1 → NP_001397826.1  mitochondrial carrier homolog 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL122034
    Consensus CDS
    CCDS93905.1
    UniProtKB/TrEMBL
    A0A8Q3WKC8
    Related
    ENSP00000511680.1, ENST00000695073.1

  3. NM_001410899.1 → NP_001397828.1  mitochondrial carrier homolog 1 isoform 4

    Status: REVIEWED

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

  4. NM_014341.2 → NP_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:206 → 264
    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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NZJ7.1 GenPept UniProtKB/Swiss-Prot:Q9NZJ7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous