• Gene id: 84529

Gene Summary

• Gene Symbol: CDIN1   Gene   UCSC   Ensembl
• Aliases: C15orf41, HH114
• Gene name: CDAN1 interacting nuclease 1
• Alternate names: protein C15orf41, uncharacterized protein C15orf41,
• Gene location: 15q14 (36579610: 36810247)     Exons: 18     NC_000015.10
• Gene summary(Entrez): This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isofor
• OMIM: 610004

Protein Summary

• Protein general information: Q9Y2V0  
  • Name: Protein C15orf41 (Protein HH114)
  • Length: 281  
  • Mass: 32264
• Sequence:

  MILTKAQYDEIAQCLVSVPPTRQSLRKLKQRFPSQSQATLLSIFSQEYQKHIKRTHAKHHTSEAIESYYQRYLNG
  VVKNGAAPVLLDLANEVDYAPSLMARLILERFLQEHEETPPSKSIINSMLRDPSQIPDGVLANQVYQCIVNDCCY
  GPLVDCIKHAIGHEHEVLLRDLLLEKNLSFLDEDQLRAKGYDKTPDFILQVPVAVEGHIIHWIESKASFGDECSH
  HAYLHDQFWSYWNRFGPGLVIYWYGFIQELDCNRERGILLKACFPTNIVTLCHSIA

• Structural information:
  • Interpro: IPR029404  
  • STRING: ENSP00000455397
• Other Databases: GeneCards:  CDIN1  Malacards:  CDIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0030218	erythrocyte differentiation	IMP	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Congenital dyserythropoietic anemias	KEGG:H00917
Congenital dyserythropoietic anemias	KEGG:H00917
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray