• Gene id: 92609

Gene Summary

• Gene Symbol: TIMM50   Gene   UCSC   Ensembl
• Aliases: MGCA9, TIM50, TIM50L
• Gene name: translocase of inner mitochondrial membrane 50
• Alternate names: mitochondrial import inner membrane translocase subunit TIM50, Tim50-like protein, homolog of yeast Tim50,
• Gene location: 19q13.2 (39480837: 39493778)     Exons: 14     NC_000019.10
• Gene summary(Entrez): This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the
• OMIM: 607381

Protein Summary

• Protein general information: Q3ZCQ8  
  • Name: Mitochondrial import inner membrane translocase subunit TIM50
  • Length: 353  
  • Mass: 39646
  • Tissue specificity: Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level). {ECO
• Sequence:

  MAASAAVFSRLRSGLRLGSRGLCTRLATPPRRAPDQAAEIGSRGSTKAQGPQQQPGSEGPSYAKKVALWLAGLLG
  AGGTVSVVYIFGNNPVDENGAKIPDEFDNDPILVQQLRRTYKYFKDYRQMIIEPTSPCLLPDPLQEPYYQPPYTL
  VLELTGVLLHPEWSLATGWRFKKRPGIETLFQQLAPLYEIVIFTSETGMTAFPLIDSVDPHGFISYRLFRDATRY
  MDGHHVKDISCLNRDPARVVVVDCKKEAFRLQPYNGVALRPWDGNSDDRVLLDLSAFLKTIALNGVEDVRTVLEH
  YALEDDPLAAFKQRQSRLEQEEQQRLAELSKSNKQNLFLGSLTSRLWPRSKQP

• Structural information:
  • Protein Domains: (143..28-)
    (/note="FCP1-homology)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00336"-)
  • Interpro: IPR004274  IPR036412  IPR023214  IPR027111  
  • Prosite: PS50969
  • DIP: 34058
  • STRING: ENSP00000445806
• Other Databases: GeneCards:  TIMM50  Malacards:  TIMM50

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030150	protein import into mitochondrial matrix	IBA	biological process
GO:0005744	TIM23 mitochondrial import inner membrane translocase complex	IBA	cellular component
GO:0004721	phosphoprotein phosphatase activity	IBA	molecular function
GO:0005744	TIM23 mitochondrial import inner membrane translocase complex	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0004721	phosphoprotein phosphatase activity	IDA	molecular function
GO:0005134	interleukin-2 receptor binding	IDA	molecular function
GO:0001836	release of cytochrome c from mitochondria	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016607	nuclear speck	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0016607	nuclear speck	IDA	cellular component
GO:0004722	protein serine/threonine phosphatase activity	IDA	molecular function
GO:0043021	ribonucleoprotein complex binding	IDA	molecular function
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0006470	protein dephosphorylation	IDA	biological process
GO:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0005744	TIM23 mitochondrial import inner membrane translocase complex	IPI	cellular component
GO:0007006	mitochondrial membrane organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
3-Methylglutaconic aciduria	KEGG:H00754
3-Methylglutaconic aciduria	KEGG:H00754
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray