• Gene id: 338692

Gene Summary

• Gene Symbol: ANKRD13D   Gene   UCSC   Ensembl
• Gene name: ankyrin repeat domain 13D
• Alternate names: ankyrin repeat domain-containing protein 13D, ankyrin repeat domain 13 family, member D,
• Gene location: 11q13.2 (67289302: 67302483)     Exons: 16     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-
• OMIM: 618560

Protein Summary

• Protein general information: Q6ZTN6  
  • Name: Ankyrin repeat domain containing protein 13D
  • Length: 518  
  • Mass: 58476
• Sequence:

  MVQLVLQYRDYQRATQRLAGIPELLNKLRQAPDFYVEMKWEFTSWVPLVSKMCPSDVYRVWKRGESLRVDTSLLG
  FEHMTWQRGRRSFIFKGQEAGALVMEVDHDRQVVHVETLGLTLQEPETLLAAMRPSEEHVASRLTSPIVSTHLDT
  RNVAFERNKCGIWGWRSEKMETVSGYEAKVYSATNVELVTRTRTEHLSDQDKSRSKAGKTPFQSFLGMAQQHSSH
  TGAPVQQAASPTNPTAISPEEYFDPNFSLESRNIGRPIEMSSKVQRFKATLWLSEEHPLSLGDQVTPIIDLMAIS
  NAHFAKLRDFITLRLPPGFPVKIEIPLFHVLNARITFSNLCGCDEPLSSVWVPAPSSAVAASGNPFPCEVDPTVF
  EVPNGYSVLGMERNEPLRDEDDDLLQFAIQQSLLEAGTEAEQVTVWEALTNTRPGARPPPQATVYEEQLQLERAL
  QESLQLSTEPRGPGSPPRTPPAPGPPSFEEQLRLALELSSREQEERERRGQQEEEDLQRILQLSLTEH

• Structural information:
  • Protein Domains: (395..41-)
    (/note="UIM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (441..46-)
    (/note="UIM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (477..49-)
    (/note="UIM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00213-)
    (-)
  • Interpro: IPR021832  IPR003903  
  • Prosite: PS50330
  • STRING: ENSP00000427130
• Other Databases: GeneCards:  ANKRD13D  Malacards:  ANKRD13D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0140036	ubiquitin-dependent protein binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0002091	negative regulation of receptor internalization	IMP	biological process
GO:0140036	ubiquitin-dependent protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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