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

    Gene ID: 100913187, updated on 27-Nov-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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    See APOBEC3A_B in Genome Data Viewer
    Location:
    22q13 alternate reference locus
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 (ALT_REF_LOCI_1) NW_003315972.2 (68429..78547)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 (PATCHES) NW_003315972.1 (73317..78547)

    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)

    General gene information

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    Markers

    Homology

    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_2024_08

    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
    Heading Accession and Version

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