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APOBEC3A_B APOBEC3A and APOBEC3B deletion hybrid [ Homo sapiens (human) ]

Gene ID: 100913187, updated on 3-Apr-2024

Summary

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Official Symbol
APOBEC3A_Bprovided by HGNC
Official Full Name
APOBEC3A and APOBEC3B deletion hybridprovided by HGNC
Primary source
HGNC:HGNC:44196
See related
AllianceGenome:HGNC:44196
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
A3A; APOBEC3A
Summary
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. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. The protein encoded by this gene is the same as that encoded by APOBEC3A; however, this gene is a hybrid gene that results from the deletion of approximately 29.5 kb of sequence between the APOBEC3A gene and the adjacent gene APOBEC3B. The breakpoints of the deletion are within the two genes, so the deletion hybrid is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. [provided by RefSeq, Jul 2012]
Annotation information
Annotation category: only annotated on alternate loci in reference assembly
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Genomic context

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Location:
22q13 alternate reference locus
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 (ALT_REF_LOCI_1) NW_003315972.2 (68429..78547)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 (PATCHES) NW_003315972.1 (73230..78546)

NW_003315972.2Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373032 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63270 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63315 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63367 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_63385 and experimental_63387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39332328-39333149 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39345610-39346460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39350327-39351206 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:39394090-39394730

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. APOBEC3A/B deletion polymorphism and cancer risk. Gansmo LB, et al. Carcinogenesis, 2018 Feb 9. PMID 29140415, Free PMC Article
  2. Target cell-mediated editing of HIV-1 cDNA by APOBEC3 proteins in human macrophages. Koning FA, et al. J Virol, 2011 Dec. PMID 21957290, Free PMC Article
  3. APOBEC3A can activate the DNA damage response and cause cell-cycle arrest. Landry S, et al. EMBO Rep, 2011 May. PMID 21460793, Free PMC Article
  4. Innate immune signaling induces high levels of TC-specific deaminase activity in primary monocyte-derived cells through expression of APOBEC3A isoforms. Thielen BK, et al. J Biol Chem, 2010 Sep 3. PMID 20615867, Free PMC Article
  5. Effects of structural variations of APOBEC3A and APOBEC3B genes in chronic hepatitis B virus infection. Abe H, et al. Hepatol Res, 2009 Dec. PMID 19788695

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

General protein information

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Preferred Names
probable DNA dC->dU-editing enzyme APOBEC-3A
Names
DNA dC->dU-editing enzyme APOBEC-3A
Phorbolin-1
NP_001180218.1
XP_054185588.1
XP_054185589.1
XP_054185590.1
XP_054185591.1
XP_054185592.1
XP_054185593.1
XP_054185594.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001193289.2 → NP_001180218.1  probable DNA dC->dU-editing enzyme APOBEC-3A

    See identical proteins and their annotated locations for NP_001180218.1

    Status: REVIEWED

    Source sequence(s)
    AC192820
    UniProtKB/Swiss-Prot
    A0AVM1, P31941, Q12807, Q5JZ93, Q9UH18
    UniProtKB/TrEMBL
    A0A0K0MJ25, A0A0K0MJ49
    Conserved Domains (1) summary
    pfam08210
    Location:18 → 191
    APOBEC_N; APOBEC-like N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315972.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    68429..78547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329619.1 → XP_054185594.1  probable DNA dC->dU-editing enzyme APOBEC-3A isoform X2

    UniProtKB/Swiss-Prot
    A0AVM1, P31941, Q12807, Q5JZ93, Q9UH18
    UniProtKB/TrEMBL
    A0A0K0MJ49

  2. XM_054329613.1 → XP_054185588.1  probable DNA dC->dU-editing enzyme APOBEC-3A isoform X1

  3. XM_054329615.1 → XP_054185590.1  probable DNA dC->dU-editing enzyme APOBEC-3A isoform X1

  4. XM_054329616.1 → XP_054185591.1  probable DNA dC->dU-editing enzyme APOBEC-3A isoform X1

  5. XM_054329617.1 → XP_054185592.1  probable DNA dC->dU-editing enzyme APOBEC-3A isoform X1

  6. XM_054329614.1 → XP_054185589.1  probable DNA dC->dU-editing enzyme APOBEC-3A isoform X1

  7. XM_054329618.1 → XP_054185593.1  probable DNA dC->dU-editing enzyme APOBEC-3A isoform X1

Nucleotide Protein
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