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Aliases for MTCH1 Gene

Aliases for MTCH1 Gene

  • Mitochondrial Carrier 1 2 3 5
  • Solute Carrier Family 25, Member 49 2 3
  • Presenilin-Associated Protein 3 4
  • PSAP 3 4
  • Mitochondrial Carrier Homolog 1 (C. Elegans) 2
  • Cell Proliferation-Inducing Protein 60 3
  • Mitochondrial Carrier Homolog 1 3
  • SLC25A49 3
  • CGI-64 3
  • PIG60 3

External Ids for MTCH1 Gene

Previous GeneCards Identifiers for MTCH1 Gene

  • GC06M036938
  • GC06M036982
  • GC06M037043
  • GC06M036654
  • GC06M037044
  • GC06M037180
  • GC06M037384
  • GC06M037741
  • GC06M038087

Summaries for MTCH1 Gene

Entrez Gene Summary for MTCH1 Gene

  • 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]

GeneCards Summary for MTCH1 Gene

MTCH1 (Mitochondrial Carrier 1) is a Protein Coding gene. An important paralog of this gene is MTCH2.

UniProtKB/Swiss-Prot for MTCH1 Gene

  • Potential mitochondrial transporter. May play a role in apoptosis.

Gene Wiki entry for MTCH1 Gene

Additional gene information for MTCH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTCH1 Gene

Genomics for MTCH1 Gene

GeneHancer (GH) Regulatory Elements for MTCH1 Gene

Promoters and enhancers for MTCH1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J036983 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 656.2 +0.8 811 3.8 CLOCK MLX DMAP1 YBX1 YY1 ZNF416 ZNF143 SP3 ZNF610 GLIS1 MTCH1 CMTR1 SRSF3 BRPF3 ENSG00000237719 TBC1D22B MAPK14 LAP3P2 RNU1-88P RN7SL285P
GH06J036884 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.9 +99.2 99210 4.9 CLOCK DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 NFYC MEF2D C6orf89 PPIL1 CMTR1 SRSF3 FGD2 CDKN1A RAB44 MTCH1 BRPF3 TBC1D22B
GH06J037168 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.8 -186.6 -186642 10.2 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 PIM1 CMTR1 SRSF3 BRPF3 LAP3P2 RNU1-88P RN7SL285P RN7SL502P STK38 COX6A1P2
GH06J036751 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.6 +231.5 231543 6.3 HDGF PKNOX1 RB1 ZFP64 KLF17 IRF4 ZNF335 ZNF143 ATF7 FOS CPNE5 RAB44 RNU1-88P CDKN1A ENSG00000251864 LAP3P2 MTCH1 FGD2 C6orf89 TBC1D22B
GH06J037017 Enhancer 1.4 Ensembl ENCODE dbSUPER 13.3 -31.8 -31848 2 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF2 ZNF48 ZNF213 E2F8 SRSF3 MTCH1 COX6A1P2 PIM1 FGD2 C6orf89 PPIL1 MAPK14 RAB44
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MTCH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTCH1 gene promoter:
  • MAZR
  • IRF-2
  • GCNF-2
  • GCNF-1
  • GCNF
  • Pax-5
  • LUN-1
  • CREB
  • deltaCREB
  • CUTL1

Genomic Locations for MTCH1 Gene

Genomic Locations for MTCH1 Gene
18,417 bases
Minus strand
18,158 bases
Minus strand

Genomic View for MTCH1 Gene

Genes around MTCH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTCH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTCH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTCH1 Gene

Proteins for MTCH1 Gene

  • Protein details for MTCH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Mitochondrial carrier homolog 1
    Protein Accession:
    Secondary Accessions:
    • A8KAX5
    • B2RCE3
    • Q6PK60
    • Q6UX45
    • Q7L465
    • Q9BW23
    • Q9NZR6
    • Q9UJZ5

    Protein attributes for MTCH1 Gene

    389 amino acids
    Molecular mass:
    41544 Da
    Quaternary structure:
    • Interacts with PSEN1.
    • Sequence=AAF07936.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MTCH1 Gene


neXtProt entry for MTCH1 Gene

Post-translational modifications for MTCH1 Gene

  • Ubiquitination at isoforms=2125
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MTCH1 Gene

Domains & Families for MTCH1 Gene

Gene Families for MTCH1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for MTCH1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with MTCH1: view

Function for MTCH1 Gene

Molecular function for MTCH1 Gene

UniProtKB/Swiss-Prot Function:
Potential mitochondrial transporter. May play a role in apoptosis.

Phenotypes From GWAS Catalog for MTCH1 Gene

Gene Ontology (GO) - Molecular Function for MTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10551805
genes like me logo Genes that share ontologies with MTCH1: view
genes like me logo Genes that share phenotypes with MTCH1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MTCH1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTCH1 Gene

Localization for MTCH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTCH1 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTCH1 gene
Compartment Confidence
mitochondrion 5
peroxisome 2

Gene Ontology (GO) - Cellular Components for MTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 10551805
GO:0005739 mitochondrion IMP 12377771
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA,IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MTCH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MTCH1 Gene

Pathways & Interactions for MTCH1 Gene

SuperPathways for MTCH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IMP 12377771
GO:0009966 regulation of signal transduction NAS 10551805
GO:0043065 positive regulation of apoptotic process IEP 12377771
GO:0045161 neuronal ion channel clustering NAS 10551805
genes like me logo Genes that share ontologies with MTCH1: view

No data available for Pathways by source and SIGNOR curated interactions for MTCH1 Gene

Drugs & Compounds for MTCH1 Gene

No Compound Related Data Available

Transcripts for MTCH1 Gene

Unigene Clusters for MTCH1 Gene

Mitochondrial carrier 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTCH1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: -
SP8: - - - - - - -
SP9: - - -
SP10: - -
SP11: - - -
SP12: -

ExUns: 16b · 16c

Relevant External Links for MTCH1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MTCH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTCH1 Gene

Protein differential expression in normal tissues from HIPED for MTCH1 Gene

This gene is overexpressed in Nasal epithelium (53.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTCH1 Gene

Protein tissue co-expression partners for MTCH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTCH1 Gene:


SOURCE GeneReport for Unigene cluster for MTCH1 Gene:


mRNA Expression by UniProt/SwissProt for MTCH1 Gene:

Tissue specificity: Widely expressed with a predominant expression in brain.

Evidence on tissue expression from TISSUES for MTCH1 Gene

  • Nervous system(5)
  • Pancreas(4.5)
  • Kidney(4.4)
  • Muscle(4.4)
  • Lung(4.1)
  • Skin(3.4)
  • Eye(3.2)
  • Intestine(3.1)
  • Thyroid gland(2.3)
  • Adrenal gland(2)
  • Liver(2)
genes like me logo Genes that share expression patterns with MTCH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTCH1 Gene

Orthologs for MTCH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTCH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MTCH1 34
  • 100 (a)
(Bos Taurus)
Mammalia MTCH1 34 33
  • 93.66 (n)
(Canis familiaris)
Mammalia MTCH1 34
  • 91 (a)
(Mus musculus)
Mammalia Mtch1 16 34 33
  • 90.83 (n)
(Rattus norvegicus)
Mammalia Mtch1 33
  • 90.4 (n)
(Monodelphis domestica)
Mammalia MTCH1 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia MTCH1 34
  • 76 (a)
(Gallus gallus)
Aves MTCH1 34
  • 73 (a)
(Anolis carolinensis)
Reptilia MTCH1 34
  • 61 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20834 33
fruit fly
(Drosophila melanogaster)
Insecta Mtch 34 35
  • 33 (a)
CG10920 34
  • 21 (a)
(Caenorhabditis elegans)
Secernentea mtch-1 34
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10453 34
  • 35 (a)
Species where no ortholog for MTCH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MTCH1 Gene

Gene Tree for MTCH1 (if available)
Gene Tree for MTCH1 (if available)
Evolutionary constrained regions (ECRs) for MTCH1: view image

Paralogs for MTCH1 Gene

Paralogs for MTCH1 Gene

(2) SIMAP similar genes for MTCH1 Gene using alignment to 7 proteins:

  • B4E0C5_HUMAN
  • H0Y8C3_HUMAN
  • H7C196_HUMAN
  • Q8IW90_HUMAN Pseudogenes for MTCH1 Gene

genes like me logo Genes that share paralogs with MTCH1: view

Variants for MTCH1 Gene

Sequence variations from dbSNP and Humsavar for MTCH1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000075563 -- 36,986,532(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000163505 -- 36,987,853(-) A/T upstream_transcript_variant
rs1000386598 -- 36,987,624(-) A/G upstream_transcript_variant
rs1000950199 -- 36,969,876(-) A/G coding_sequence_variant, intron_variant, missense_variant
rs1001007481 -- 36,975,277(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MTCH1 Gene

Variant ID Type Subtype PubMed ID
nsv602953 CNV gain 21841781
nsv602952 CNV loss 21841781
nsv5263 CNV deletion 18451855
nsv525288 CNV loss 19592680
nsv518386 CNV gain 19592680
nsv1073548 CNV deletion 25765185
nsv1015689 CNV gain 25217958
esv988069 CNV deletion 20482838
esv21521 CNV loss 19812545

Variation tolerance for MTCH1 Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTCH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTCH1 Gene

Disorders for MTCH1 Gene

Additional Disease Information for MTCH1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MTCH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTCH1 Gene

Publications for MTCH1 Gene

  1. The novel presenilin-1-associated protein is a proapoptotic mitochondrial protein. (PMID: 12377771) Xu X … Cui MZ (The Journal of biological chemistry 2002) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Both the N-terminal fragment and the protein-protein interaction domain (PDZ domain) are required for the pro-apoptotic activity of presenilin-associated protein PSAP. (PMID: 18291114) Mao G … Xu X (Biochimica et biophysica acta 2008) 3 22 58
  5. Two isoforms of PSAP/MTCH1 share two proapoptotic domains and multiple internal signals for import into the mitochondrial outer membrane. (PMID: 17670888) Lamarca V … Carrodeguas JA (American journal of physiology. Cell physiology 2007) 3 22 58

Products for MTCH1 Gene

Sources for MTCH1 Gene

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