• Gene id: 8209

Gene Summary

• Gene Symbol: GATD3A   Gene   UCSC   Ensembl
• Aliases: C21orf33, ES1, GATD3, GT335, HES1, KNPH, KNPI
• Gene name: glutamine amidotransferase like class 1 domain containing 3A
• Alternate names: glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial, ES1 protein homolog, mitochondrial, Keio novel protein I, human HES1 protein, homolog to E.coli and zebrafish ES1 protein, testis secretory sperm-binding protein Li 237E,
• Gene location: 21q22.3 (45216032: 45440403)     Exons: 23     NC_000012.12
• Gene summary(Entrez): This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
• OMIM: 601659

Protein Summary

• Protein general information: A0A0B4J2D5  
  • Name: Glutamine amidotransferase like class 1 domain containing protein 3B, mitochondrial (Keio novel protein I) (KNP I) (Protein GT335) (Protein HES1)
  • Length: 268  
  • Mass: 28142
• Sequence:

  MAAVRALVASRLAAASAFTSLSPGGRTPSQRAALHLSVPRPAARVALVLSGCGVYDGTEIHEASAILVHLSRGGA
  EVQIFAPDVPQMHVIDHTKGQPSEGESRNVLTESARIARGKITDLANLSAANHDAAIFPGGFGAAKNLSTFAVDG
  KDCKVNKEVERVLKEFHQAGKPIGLCCIAPVLAAKVLRGVEVTVGHEQEEGGKWPYAGTAEAIKALGAKHCVKEV
  VEAHVDQKNKVVTTPAFMCETALHYIHDGIGAMVRKVLELTGK

• Structural information:
  • Interpro: IPR029062  
  • STRING: ENSP00000480313
• Other Databases: GeneCards:  GATD3A  Malacards:  GATD3A
• Protein general information: P0DPI2  
  
  Name: Glutamine amidotransferase like class 1 domain containing protein 3A, mitochondrial
  
  Length: 268  Mass: 28170
• Sequence: MAAVRVLVASRLAAASAFTSLSPGGRTPSQRAALHLSVPRPAARVALVLSGCGVYDGTEIHEASAILVHLSRGGA
  EVQIFAPDVPQMHVIDHTKGQPSEGESRNVLTESARIARGKITDLANLSAANHDAAIFPGGFGAAKNLSTFAVDG
  KDCKVNKEVERVLKEFHQAGKPIGLCCIAPVLAAKVLRGVEVTVGHEQEEGGKWPYAGTAEAIKALGAKHCVKEV
  VEAHVDQKNKVVTTPAFMCETALHYIHDGIGAMVRKVLELTGK
• Structural information:

  Interpro:

  IPR029062

• Other Databases: GeneCards:  GATD3A  Malacards:  GATD3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component

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