• Gene id: 9582

Gene Summary

• Gene Symbol: APOBEC3B   Gene   UCSC   Ensembl
• Aliases: A3B, APOBEC1L, ARCD3, ARP4, DJ742C19.2, PHRBNL, bK150C2.2
• Gene name: apolipoprotein B mRNA editing enzyme catalytic subunit 3B
• Alternate names: DNA dC->dU-editing enzyme APOBEC-3B, apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B, cytidine deaminase, phorbolin 2, phorbolin 3, phorbolin-1-related protein, phorbolin-2/3, probable DNA dC->dU-editing enzyme APOBEC-3B,
• Gene location: 22q13.1 (38982346: 38992778)     Exons: 8     NC_000022.11
• Gene summary(Entrez): This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and fu
• OMIM: 611324

SNPs

rs28606463

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213929934C>T
NC_000002.11   g.214794658C>T|SEQ=[C/T]|GENE=SPAG16

rs16851495

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214108287G>A
NC_000002.11   g.214973011G>A|SEQ=[G/A]|GENE=SPAG16

rs12988374

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214410278C>T
NC_000002.11   g.215275002C>T
NM_024532.5   c.1859C>T
NM_024532.4   c.1859C>T
XM_011511823.3   c.1550C>T
XM_011511821.2   c.1577C>T
XM_011511819.2   c.1697C>T
XM_011511820.2   c.1673C>T
XM_017004897.1   c.1502C>T
NR_047659.1   n.2139C>T
XM_  

rs12988372

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214410273C>A
NC_000002.12   g.214410273C>T
NC_000002.11   g.215274997C>A
NC_000002.11   g.215274997C>T
NM_024532.5   c.1854C>A
NM_024532.5   c.1854C>T
NM_024532.4   c.1854C>A
NM_024532.4   c.1854C>T
XM_011511823.3   c.1545C>A
XM_011511823.3   c.1545C>T
  

rs12623569

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213930019A>C
NC_000002.11   g.214794743A>C
NM_024532.5   c.1274A>C
NM_024532.4   c.1274A>C
XM_011511823.3   c.965A>C
XM_011511816.3   c.1274A>C
XM_011511821.2   c.992A>C
XM_011511819.2   c.1112A>C
XM_011511815.2   c.1274A>C
XM_011511817.2   c.1274A>C
XM  

rs10167688

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213489990C>A
NC_000002.11   g.214354714C>A
NM_024532.5   c.970C>A
NM_024532.4   c.970C>A
XM_011511823.3   c.661C>A
XM_011511816.3   c.970C>A
XM_011511821.2   c.688C>A
XM_011511819.2   c.808C>A
XM_011511820.2   c.970C>A
XM_011511815.2   c.970C>A
XM_01151  

Protein Summary

• Protein general information: Q9UH17  
  • Name: DNA dC >dU editing enzyme APOBEC 3B (A3B) (EC 3.5.4.38) (Phorbolin 1 related protein) (Phorbolin 2/3)
  • Length: 382  
  • Mass: 45924
  • Tissue specificity: Expressed at high and moderate levels in peripheral blood leukocytes, spleen, testes, heart, thymus, prostate and ovary. Also expressed at low levels in several other tissues. {ECO
• Sequence:

  MNPQIRNPMERMYRDTFYDNFENEPILYGRSYTWLCYEVKIKRGRSNLLWDTGVFRGQVYFKPQYHAEMCFLSWF
  CGNQLPAYKCFQITWFVSWTPCPDCVAKLAEFLSEHPNVTLTISAARLYYYWERDYRRALCRLSQAGARVTIMDY
  EEFAYCWENFVYNEGQQFMPWYKFDENYAFLHRTLKEILRYLMDPDTFTFNFNNDPLVLRRRQTYLCYEVERLDN
  GTWVLMDQHMGFLCNEAKNLLCGFYGRHAELRFLDLVPSLQLDPAQIYRVTWFISWSPCFSWGCAGEVRAFLQEN
  THVRLRIFAARIYDYDPLYKEALQMLRDAGAQVSIMTYDEFEYCWDTFVYRQGCPFQPWDGLEEHSQALSGRLRA
  ILQNQGN

• Structural information:
  • Protein Domains: (29..13-)
    1 (/note="CMP/dCMP-type-deaminase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01083-)
    (210..32-)
    2 (/note="CMP/dCMP-type-deaminase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01083"-)
  • Interpro: IPR016192  IPR002125  IPR016193  
  • Prosite: PS00903 PS51747
  • PDB: 2NBQ 5CQD 5CQH 5CQI 5CQK 5SXG 5SXH 5TD5 5TKM 6NFK 6NFL 6NFM
  • PDBsum: 2NBQ 5CQD 5CQH 5CQI 5CQK 5SXG 5SXH 5TD5 5TKM 6NFK 6NFL 6NFM
  • STRING: ENSP00000327459
• Other Databases: GeneCards:  APOBEC3B  Malacards:  APOBEC3B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IBA	molecular function
GO:0004126	cytidine deaminase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0016554	cytidine to uridine editing	IBA	biological process
GO:0045869	negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IBA	biological process
GO:0047844	deoxycytidine deaminase activity	IBA	molecular function
GO:0070383	DNA cytosine deamination	IBA	biological process
GO:0080111	DNA demethylation	IBA	biological process
GO:0000932	P-body	IBA	cellular component
GO:0010529	negative regulation of transposition	IBA	biological process
GO:0051607	defense response to virus	IBA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0010529	negative regulation of transposition	IDA	biological process
GO:0010529	negative regulation of transposition	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0047844	deoxycytidine deaminase activity	IMP	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0009972	cytidine deamination	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05170	Human immunodeficiency virus 1 infection

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