• Gene id: 23787

Gene Summary

• Gene Symbol: MTCH1   Gene   UCSC   Ensembl
• Aliases: CGI-64, PIG60, PSAP, SLC25A49
• Gene name: mitochondrial carrier 1
• Alternate names: mitochondrial carrier homolog 1, cell proliferation-inducing protein 60, presenilin-associated protein, solute carrier family 25, member 49,
• Gene location: 6p21.2 (36987170: 36968134)     Exons: 12     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 610449

Protein Summary

• Protein general information: Q9NZJ7  
  • Name: Mitochondrial carrier homolog 1 (Presenilin associated protein)
  • Length: 389  
  • Mass: 41544
  • Tissue specificity: Widely expressed with a predominant expression in brain. {ECO
• Sequence:

  MGASDPEVAPWARGGAAGMAGAGAGAGARGGAAAGVEARARDPPPAHRAHPRHPRPAAQPSARRMDGGSGGLGSG
  DNAPTTEALFVALGAGVTALSHPLLYVKLLIQVGHEPMPPTLGTNVLGRKVLYLPSFFTYAKYIVQVDGKIGLFR
  GLSPRLMSNALSTVTRGSMKKVFPPDEIEQVSNKDDMKTSLKKVVKETSYEMMMQCVSRMLAHPLHVISMRCMVQ
  FVGREAKYSGVLSSIGKIFKEEGLLGFFVGLIPHLLGDVVFLWGCNLLAHFINAYLVDDSVSDTPGGLGNDQNPG
  SQFSQALAIRSYTKFVMGIAVSMLTYPFLLVGDLMAVNNCGLQAGLPPYSPVFKSWIHCWKYLSVQGQLFRGSSL
  LFRRVSSGSCFALE

• Structural information:
  • Interpro: IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000362730
• Other Databases: GeneCards:  MTCH1  Malacards:  MTCH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043065	positive regulation of apoptotic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0045161	neuronal ion channel clustering	NAS	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IEP	biological process
GO:0009966	regulation of signal transduction	NAS	biological process
GO:0005739	mitochondrion	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq