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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 functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
APOBEC3B (Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 3B) is a Protein Coding gene. Diseases associated with APOBEC3B include Human T-Cell Leukemia Virus Type 1 and Bone Leiomyosarcoma. Among its related pathways are Gene Expression and mRNA Editing- C to U Conversion. Gene Ontology (GO) annotations related to this gene include deoxycytidine deaminase activity. An important paralog of this gene is APOBEC3D.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IBA | 21873635 |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004126 | cytidine deaminase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 31217276 |
GO:0008270 | zinc ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000932 | P-body | IBA | 21873635 |
GO:0005634 | nucleus | IBA,IDA | 16699599 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Editing- C to U Conversion |
.82
|
|
2 | Human cytomegalovirus infection | ||
3 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0009972 | cytidine deamination | IEA | -- |
GO:0010529 | negative regulation of transposition | IDA | 16527742 |
GO:0016554 | cytidine to uridine editing | IBA | 21873635 |
GO:0045087 | innate immune response | IEA | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | APOBEC3B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | APOBEC3B 30 |
|
||
APOBEC3A 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Apobec3b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Apobec3 30 17 |
|
||
Dog (Canis familiaris) |
Mammalia | APOBEC3H 30 |
|
||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
777709 | Benign: not provided | 38,989,505(+) | T/C | SYNONYMOUS_VARIANT | |
778951 | Benign: not provided | 38,984,126(+) | C/T | SYNONYMOUS_VARIANT | |
rs1053813 | - | p.Arg351His | |||
rs17000697 | - | p.Ser109Ala | |||
rs2076109 | - | p.Lys62Glu |
Disorder | Aliases | PubMed IDs |
---|---|---|
human t-cell leukemia virus type 1 |
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|
bone leiomyosarcoma |
|
|
recessive dystrophic epidermolysis bullosa |
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