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Aliases for MTCH1 Gene

Aliases for MTCH1 Gene

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

External Ids for MTCH1 Gene

Previous GeneCards Identifiers for MTCH1 Gene

  • GC06M036938
  • GC06M036982
  • GC06M036654

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. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. 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

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

Genomics for MTCH1 Gene

Regulatory Elements for MTCH1 Gene

Promoters for MTCH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MTCH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MTCH1 Gene

Chromosome:
6
Start:
36,968,135 bp from pter
End:
36,986,551 bp from pter
Size:
18,417 bases
Orientation:
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:
    Q9NZJ7-MTCH1_HUMAN
    Recommended name:
    Mitochondrial carrier homolog 1
    Protein Accession:
    Q9NZJ7
    Secondary Accessions:
    • A8KAX5
    • B2RCE3
    • Q6PK60
    • Q6UX45
    • Q7L465
    • Q9BW23
    • Q9NZR6
    • Q9UJZ5

    Protein attributes for MTCH1 Gene

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

    Alternative splice isoforms for MTCH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTCH1 Gene

Proteomics data for MTCH1 Gene at MOPED

Post-translational modifications for MTCH1 Gene

  • Ubiquitination at Lys 125
  • Modification sites at PhosphoSitePlus

Other Protein References for MTCH1 Gene

Antibody Products

No data available for DME Specific Peptides for MTCH1 Gene

Domains & Families for MTCH1 Gene

Gene Families for MTCH1 Gene

Protein Domains for MTCH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZJ7

UniProtKB/Swiss-Prot:

MTCH1_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Contains 2 Solcar repeats.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity:
  • Contains 2 Solcar repeats.
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 for MTCH1 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for MTCH1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for MTCH1 Gene 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:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MTCH1: view

Pathways & Interactions for MTCH1 Gene

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

Pathways by source for MTCH1 Gene

Gene Ontology (GO) - Biological Process for MTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with MTCH1: view

No data available for 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:

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
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for MTCH1 Gene

GeneLoc Exon Structure for
MTCH1
ECgene alternative splicing isoforms for
MTCH1

Expression for MTCH1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for MTCH1 Gene



SOURCE GeneReport for Unigene cluster for MTCH1 Gene Hs.485262

mRNA Expression by UniProt/SwissProt for MTCH1 Gene

Q9NZJ7-MTCH1_HUMAN
Tissue specificity: Widely expressed with a predominant expression in brain.
genes like me logo Genes that share expression patterns with MTCH1: view

Protein tissue co-expression partners for MTCH1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia MTCH1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTCH1 36
  • 94 (a)
OneToOne
MTCH1 35
  • 93.66 (n)
  • 98.71 (a)
dog
(Canis familiaris)
Mammalia MTCH1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtch1 16
Mtch1 35
  • 90.83 (n)
  • 98.2 (a)
Mtch1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTCH1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTCH1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtch1 35
  • 90.4 (n)
  • 98.2 (a)
chicken
(Gallus gallus)
Aves MTCH1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTCH1 36
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20834 35
fruit fly
(Drosophila melanogaster)
Insecta Mtch 37
  • 36 (a)
CG10920 36
  • 21 (a)
ManyToMany
Mtch 36
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea mtch-1 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10453 36
  • 35 (a)
OneToMany
Species with no ortholog for MTCH1:
  • 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

ENSEMBL:
Gene Tree for MTCH1 (if available)
TreeFam:
Gene Tree for MTCH1 (if available)

Paralogs for MTCH1 Gene

Paralogs for MTCH1 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs11841 -- 36,968,372(+) CCTCA(C/T)ATCAG nc-transcript-variant, utr-variant-3-prime
rs748406 -- 36,974,641(+) TCTCC(A/G)GACAC intron-variant
rs748407 -- 36,974,705(+) TTTCT(A/G)TATCA intron-variant
rs748408 -- 36,974,970(+) TGCAC(C/T)TTATT intron-variant
rs748409 -- 36,974,498(+) CCCAA(C/G)TAACT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv885815 CNV Loss 21882294
nsv525288 CNV Loss 19592680
nsv5263 CNV Loss 18451855
esv988069 CNV Deletion 20482838
nsv518386 CNV Gain 19592680
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)

Relevant External Links for MTCH1 Gene

HapMap Linkage Disequilibrium report
MTCH1

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

Disorders for MTCH1 Gene

Relevant External Links for MTCH1

Genetic Association Database (GAD)
MTCH1
Human Genome Epidemiology (HuGE) Navigator
MTCH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTCH1

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 M.-Z. (J. Biol. Chem. 2002) 2 3 4 67
  2. 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. (Biochim. Biophys. Acta 2008) 3 23
  3. 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 J.A. (Am. J. Physiol., Cell Physiol. 2007) 3 23
  4. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R. … Aloy P. (J. Mol. Biol. 2015) 3
  5. HAUSP regulates c-MYC expression via de-ubiquitination of TRRAP. (PMID: 25925205) Bhattacharya S. … Ghosh M.K. (Cell Oncol (Dordr) 2015) 3

Products for MTCH1 Gene

Sources for MTCH1 Gene

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