• Gene id: 55871

Gene Summary

• Gene Symbol: CBWD1   Gene   UCSC   Ensembl
• Aliases: COBP
• Gene name: COBW domain containing 1
• Alternate names: COBW domain-containing protein 1, COBW-like protein, NPC-A-6 COBW domain-containing protein 1, cobalamin synthase W domain-containing protein 1, cobalamin synthetase W domain-containing protein 1,
• Gene location: 9p24.3 (179082: 120836)     Exons: 19     NC_000009.12
• OMIM: 609861

Protein Summary

• Protein general information: Q9BRT8  
  • Name: COBW domain containing protein 1 (Cobalamin synthase W domain containing protein 1) (COBP) (NPC A 6 COBW domain containing protein 1) (NPC A 6)
  • Length: 395  
  • Mass: 44068
  • Tissue specificity: Ubiquitously expressed. Up-regulated in cultured astrocytes treated with dopamine. {ECO
• Sequence:

  MLPAVGSADEEEDPAEEDCPELVPIETTQSEEEEKSGLGAKIPVTIITGYLGAGKTTLLNYILTEQHSKRVAVIL
  NEFGEGSALEKSLAVSQGGELYEEWLELRNGCLCCSVKDSGLRAIENLMQKKGKFDYILLETTGLADPGAVASMF
  WVDAELGSDIYLDGIITIVDSKYGLKHLTEEKPDGLINEATRQVALADAILINKTDLVPEEDVKKLRTTIRSING
  LGQILETQRSRVDLSNVLDLHAFDSLSGISLQKKLQHVPGTQPHLDQSIVTITFEVPGNAKEEHLNMFIQNLLWE
  KNVRNKDNHCMEVIRLKGLVSIKDKSQQVIVQGVHELYDLEETPVSWKDDTERTNRLVLLGRNLDKDILKQLFIA
  TVTETEKQWTTRFQEDQVCT

• Structural information:
  • Protein Domains: (274..37-)
    (/note="CobW-C-terminal")
  • Interpro: IPR011629  IPR036627  IPR003495  IPR027417  
  • STRING: ENSP00000366617
• Other Databases: GeneCards:  CBWD1  Malacards:  CBWD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq