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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

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

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

Genomics for MTCH1 Gene

Regulatory Elements for MTCH1 Gene

Enhancers for MTCH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G037017 1.7 Ensembl ENCODE dbSUPER 13.3 -31.8 -31849 2.0 CREB3L1 MLX YBX1 YY1 ZNF143 ZNF263 SP3 SSRP1 ZNF610 ZNF585B MTCH1 CMTR1 COX6A1P2 PIM1 FGD2 C6orf89 PPIL1 RAB44
GH06G037082 2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -97.3 -97266 2.8 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 NFYC MEF2D PIM1 COX6A1P2 FGD2 MTCH1 PPIL1 TMEM217 CDKN1A TBC1D22B SRSF3 GC06P041065
GH06G036820 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +161.9 161869 8.8 HDGF PKNOX1 ARNT FEZF1 DMAP1 ZNF766 FOS ZNF263 SP3 JUNB PPIL1 C6orf89 MTCH1 COX6A1P2 FGD2 CPNE5 MAPK14 GC06P041064
GH06G037124 2 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -141.9 -141936 8.6 HDGF FOXA2 PKNOX1 CREB3L1 MLX ARNT ARID4B DMAP1 FEZF1 ZNF2 CMTR1 PIM1 COX6A1P2 FGD2 MTCH1 C6orf89 RAB44 MDGA1 PPIL1 GC06P041050
GH06G037109 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -123.9 -123850 2.3 FOXA2 MLX ARNT ARID4B SLC30A9 ZNF766 SP5 JUNB REST TBX21 TBC1D22B FGD2 MTCH1 PIM1 C6orf89 GC06P041050 RPL12P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTCH1 on UCSC Golden Path with GeneCards custom track

Promoters for MTCH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000196318 651 2201 MLX CREB3L1 DMAP1 YBX1 YY1 ZNF416 ZNF143 SP3 MEF2D ZNF610

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

Post-translational modifications for MTCH1 Gene

  • Ubiquitination at Lys125
  • Modification sites at PhosphoSitePlus

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.
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.

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

Phenotypes for MTCH1 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for MTCH1

CRISPR Products

Inhibitory RNA Products

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

COMPARTMENTS
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

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:0006810 transport IEA --
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
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:

CRISPR Products

Inhibitory RNA Products

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
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 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, PaxDb, 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:

MTCH1

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.

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia MTCH1 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTCH1 34 35
  • 93.66 (n)
dog
(Canis familiaris)
Mammalia MTCH1 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtch1 34 16 35
  • 90.83 (n)
rat
(Rattus norvegicus)
Mammalia Mtch1 34
  • 90.4 (n)
oppossum
(Monodelphis domestica)
Mammalia MTCH1 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTCH1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTCH1 35
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTCH1 35
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20834 34
fruit fly
(Drosophila melanogaster)
Insecta Mtch 36 35
  • 36 (a)
CG10920 35
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea mtch-1 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10453 35
  • 35 (a)
OneToMany
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

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
rs1000075563 -- 36,986,532(+) CCCTG(A/G)CTTCG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000163505 -- 36,987,853(+) GGCCT(A/T)TACTG upstream-variant-2KB
rs1000386598 -- 36,987,624(+) GCCAC(A/G)CTAAC upstream-variant-2KB
rs1000950199 -- 36,969,876(+) TATGT(A/G)AGATG intron-variant, reference, missense
rs1001007481 -- 36,975,277(+) CAGCC(G/T)GTGAG intron-variant

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

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

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  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. (Biochim. Biophys. Acta 2008) 3 22 64
  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 J.A. (Am. J. Physiol., Cell Physiol. 2007) 3 22 64

Products for MTCH1 Gene

Sources for MTCH1 Gene

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