• Gene id: 131118

Gene Summary

• Gene Symbol: DNAJC19   Gene   UCSC   Ensembl
• Aliases: PAM18, TIM14, TIMM14
• Gene name: DnaJ heat shock protein family (Hsp40) member C19
• Alternate names: mitochondrial import inner membrane translocase subunit TIM14, DnaJ (Hsp40) homolog, subfamily C, member 19, DnaJ-like protein subfamily C member 19, homolog of yeast TIM14,
• Gene location: 3q26.33 (180989773: 180983708)     Exons: 7     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutac
• OMIM: 608977

Protein Summary

• Protein general information: Q96DA6  
  • Name: Mitochondrial import inner membrane translocase subunit TIM14 (DnaJ homolog subfamily C member 19)
  • Length: 116  
  • Mass: 12499
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MASTVVAVGLTIAAAGFAGRYVLQAMKHMEPQVKQVFQSLPKSAFSGGYYRGGFEPKMTKREAALILGVSPTANK
  GKIRDAHRRIMLLNHPDKGGSPYIAAKINEAKDLLEGQAKK

• Structural information:
  • Protein Domains: (62..11-)
    (/note="J-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00286"-)
  • Interpro: IPR001623  IPR036869  
  • Prosite: PS50076
  • CDD: cd06257
  • DIP: 62091
  • STRING: ENSP00000372005
• Other Databases: GeneCards:  DNAJC19  Malacards:  DNAJC19

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030150	protein import into mitochondrial matrix	IBA	biological process
GO:0001405	PAM complex, Tim23 associated import motor	IBA	cellular component
GO:0001671	ATPase activator activity	IBA	molecular function
GO:0098800	inner mitochondrial membrane protein complex	ISS	cellular component
GO:0099617	matrix side of mitochondrial inner membrane	ISS	cellular component
GO:1900208	regulation of cardiolipin metabolic process	ISS	biological process
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:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0032781	positive regulation of ATPase activity	IEA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0048806	genitalia development	IMP	biological process
GO:0006626	protein targeting to mitochondrion	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0007601	visual perception	IMP	biological process
GO:0006457	protein folding	NAS	biological process

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray