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 ... See more...

Aliases for MTCH1 Gene

Aliases for MTCH1 Gene

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

External Ids for MTCH1 Gene

Previous GeneCards Identifiers for MTCH1 Gene

  • GC06M036938
  • GC06M036982
  • GC06M037043
  • GC06M036654
  • GC06M038973
  • GC06M039792
  • GC06M037044
  • GC06M037180
  • GC06M037384
  • GC06M037741
  • GC06M038087
  • GC06M038476
  • GC06M038822

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. Diseases associated with MTCH1 include Epileptic Encephalopathy, Early Infantile, 39. An important paralog of this gene is MTCH2.

UniProtKB/Swiss-Prot Summary for MTCH1 Gene

Gene Wiki entry for MTCH1 Gene

Additional gene information for MTCH1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTCH1 Gene

Genomics for MTCH1 Gene

GeneHancer (GH) Regulatory Elements for MTCH1 Gene

Promoters and enhancers for MTCH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTCH1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MTCH1 Gene

Genomic Locations for MTCH1 Gene
chr6:36,968,135-36,986,551
(GRCh38/hg38)
Size:
18,417 bases
Orientation:
Minus strand
chr6:36,935,917-36,954,074
(GRCh37/hg19)
Size:
18,158 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

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

Protein Domains for MTCH1 Gene

Suggested Antigen Peptide Sequences for MTCH1 Gene

GenScript: Design optimal peptide antigens:
  • MTCH1 protein (A4FVA6_HUMAN)
  • cDNA FLJ12721 fis, clone NT2RP1001310, highly similar to Mitochondrial carrier homolog 1 (A8YXX5_HUMAN)
  • cDNA FLJ54217, highly similar to Mitochondrial carrier homolog 1 (B4E0C5_HUMAN)
  • Presenilin-associated protein (MTCH1_HUMAN)
  • Mitochondrial carrier homolog 1 (C. elegans) (Q5TDC3_HUMAN)

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.

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

CRISPR 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 4
peroxisome 2

Gene Ontology (GO) - Cellular Components for MTCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IMP 12377771
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
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

PathCards logo

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,IBA 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

mRNA/cDNA for MTCH1 Gene

CRISPR 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, 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

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 33
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTCH1 33 32
  • 93.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTCH1 33
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtch1 17 33 32
  • 90.83 (n)
rat
(Rattus norvegicus)
Mammalia Mtch1 32
  • 90.4 (n)
oppossum
(Monodelphis domestica)
Mammalia MTCH1 33
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTCH1 33
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTCH1 33
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTCH1 33
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20834 32
fruit fly
(Drosophila melanogaster)
Insecta Mtch 33 34
  • 33 (a)
ManyToMany
CG10920 33
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea mtch-1 33
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10453 33
  • 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)
Aminode:
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:

  • MTCH1_HUMAN
  • A4FVA6_HUMAN
  • B4E0C5_HUMAN
  • H0Y8C3_HUMAN
  • H7C196_HUMAN
  • Q5TDC2_HUMAN
  • Q8IW90_HUMAN

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 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
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)

Additional Variant Information for MTCH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTCH1

SNP Genotyping and Copy Number Assay Products

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

Disorders for MTCH1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MTCH1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 39
  • eiee39
- elite association - COSMIC cancer census association via MalaCards
Search MTCH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MTCH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MTCH1: view

No data available for 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 56
  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 43 56
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  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 23 56
  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 23 56

Products for MTCH1 Gene

Sources for MTCH1 Gene