MTCH1 mitochondrial carrier 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 6p21.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (36968135..36986551, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (36791204..36809630, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (36935911..36954327, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of MTCH1 as a novel prognostic indicator and therapeutic target in hepatocellular carcinoma.
Title: Identification of MTCH1 as a novel prognostic indicator and therapeutic target in hepatocellular carcinoma.
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.
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.
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.
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).
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.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S1337 (e-PCR)
- UniSTS:18186

RH1526 (e-PCR)
- UniSTS:11639

RH93326 (e-PCR)
- UniSTS:83602

MTCH1 (e-PCR)
- UniSTS:519086

WI-5783 (e-PCR)
- UniSTS:82374

RH18159 (e-PCR)
- UniSTS:209611

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
located_in mitochondrion	HTP more info	PubMed
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

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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)

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
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
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
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

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