• Gene id: 26517

Gene Summary

• Gene Symbol: TIMM13   Gene   UCSC   Ensembl
• Aliases: TIM13, TIM13B, TIMM13A, TIMM13B, ppv1
• Gene name: translocase of inner mitochondrial membrane 13
• Alternate names: mitochondrial import inner membrane translocase subunit Tim13, mitochondrial import inner membrane translocase subunit Tim13B, translocase of inner mitochondrial membrane 13 homolog,
• Gene location: 19p13.3 (2427585: 2425624)     Exons: 8     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of th
• OMIM: 607383

Protein Summary

• Protein general information: Q9Y5L4  
  • Name: Mitochondrial import inner membrane translocase subunit Tim13
  • Length: 95  
  • Mass: 10500
  • Tissue specificity: Ubiquitous, with highest expression in heart, kidney, liver and skeletal muscle.
• Sequence:

  MEGGFGSDFGGSGSGKLDPGLIMEQVKVQIAVANAQELLQRMTDKCFRKCIGKPGGSLDNSEQKCIAMCMDRYMD
  AWNTVSRAYNSRLQRERANM

• Structural information:
  • Interpro: IPR004217  IPR035427  IPR039238  
  • STRING: ENSP00000215570
• Other Databases: GeneCards:  TIMM13  Malacards:  TIMM13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042719	mitochondrial intermembrane space protein transporter complex	IBA	cellular component
GO:0045039	protein insertion into mitochondrial inner membrane	IBA	biological process
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0072321	chaperone-mediated protein transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0008270	zinc ion binding	TAS	molecular function
GO:0007605	sensory perception of sound	TAS	biological process
GO:0006626	protein targeting to mitochondrion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0042719	mitochondrial intermembrane space protein transporter complex	TAS	cellular component
GO:0072321	chaperone-mediated protein transport	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881