• Gene id: 403314

Gene Summary

• Gene Symbol: APOBEC4   Gene   UCSC   Ensembl
• Aliases: C1orf169
• Gene name: apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4
• Alternate names: putative C->U-editing enzyme APOBEC-4, apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative),
• Gene location: 1q25.3 (183653315: 183646274)     Exons: 2     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin ge
• OMIM: 609908

Protein Summary

• Protein general information: Q8WW27  
  • Name: Putative C >U editing enzyme APOBEC 4 (EC 3.5.4. ) (Apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4)
  • Length: 367  
  • Mass: 41581
  • Tissue specificity: Predominantly expressed in testis. {ECO
• Sequence:

  MEPIYEEYLANHGTIVKPYYWLSFSLDCSNCPYHIRTGEEARVSLTEFCQIFGFPYGTTFPQTKHLTFYELKTSS
  GSLVQKGHASSCTGNYIHPESMLFEMNGYLDSAIYNNDSIRHIILYSNNSPCNEANHCCISKMYNFLITYPGITL
  SIYFSQLYHTEMDFPASAWNREALRSLASLWPRVVLSPISGGIWHSVLHSFISGVSGSHVFQPILTGRALADRHN
  AYEINAITGVKPYFTDVLLQTKRNPNTKAQEALESYPLNNAFPGQFFQMPSGQLQPNLPPDLRAPVVFVLVPLRD
  LPPMHMGQNPNKPRNIVRHLNMPQMSFQETKDLGRLPTGRSVEIVEITEQFASSKEADEKKKKKGKK

• Structural information:
  • Protein Domains: (61..17-)
    (/note="CMP/dCMP-type-deaminase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01083"-)
  • Interpro: IPR038953  IPR002125  
  • Prosite: PS51747
  • STRING: ENSP00000310622
• Other Databases: GeneCards:  APOBEC4  Malacards:  APOBEC4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenoozoospermia	MIK: 32167074
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
32167074	Asthenoozoospermia			12 (6controls, 6 cases)	Male infertility	Microarray