• Gene id: 10452

Gene Summary

• Gene Symbol: TOMM40   Gene   UCSC   Ensembl
• Aliases: C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40
• Gene name: translocase of outer mitochondrial membrane 40
• Alternate names: mitochondrial import receptor subunit TOM40 homolog, mitochondrial outer membrane protein, p38.5, protein Haymaker, translocase of outer membrane 40 kDa subunit homolog, translocase of outer mitochondrial membrane 40 homolog,
• Gene location: 19q13.32 (44891219: 44903688)     Exons: 11     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitocho
• OMIM: 604705

Protein Summary

• Protein general information: O96008  
  • Name: Mitochondrial import receptor subunit TOM40 homolog (Protein Haymaker) (Translocase of outer membrane 40 kDa subunit homolog) (p38.5)
  • Length: 361  
  • Mass: 37893
• Sequence:

  MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFTLPPLGGSLGAGTSTSRSSERTPGAATASASGAAEDGACG
  CLPNPGTFEECHRKCKELFPIQMEGVKLTVNKGLSNHFQVNHTVALSTIGESNYHFGVTYVGTKQLSPTEAFPVL
  VGDMDNSGSLNAQVIHQLGPGLRSKMAIQTQQSKFVNWQVDGEYRGSDFTAAVTLGNPDVLVGSGILVAHYLQSI
  TPCLALGGELVYHRRPGEEGTVMSLAGKYTLNNWLATVTLGQAGMHATYYHKASDQLQVGVEFEASTRMQDTSVS
  FGYQLDLPKANLLFKGSVDSNWIVGATLEKKLPPLPLTLALGAFLNHRKNKFQCGFGLTIG

• Structural information:
  • Interpro: IPR023614  IPR027246  IPR037930  
  • CDD: cd07305
  • STRING: ENSP00000410339
• Other Databases: GeneCards:  TOMM40  Malacards:  TOMM40

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0016236	macroautophagy	TAS	biological process
GO:0008320	protein transmembrane transporter activity	ISS	molecular function
GO:0008320	protein transmembrane transporter activity	TAS	molecular function
GO:0005742	mitochondrial outer membrane translocase complex	IDA	cellular component
GO:0005742	mitochondrial outer membrane translocase complex	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0005739	mitochondrion	IMP	NOT|cellular component
GO:0031307	integral component of mitochondrial outer membrane	ISS	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0006626	protein targeting to mitochondrion	IMP	biological process
GO:0030150	protein import into mitochondrial matrix	IBA	biological process
GO:0005742	mitochondrial outer membrane translocase complex	IBA	cellular component
GO:0008320	protein transmembrane transporter activity	IBA	molecular function
GO:0006626	protein targeting to mitochondrion	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030150	protein import into mitochondrial matrix	IEA	biological process
GO:0008320	protein transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0046930	pore complex	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0015288	porin activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05014	Amyotrophic lateral sclerosis

Diseases

Associated diseases	References
Cerebral infarction	PMID:26171154
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq