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 bind... See more...

Aliases for APOBEC3A Gene

Aliases for APOBEC3A Gene

  • Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 3A 2 3 5
  • Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide-Like 3A 2 3
  • DNA DC->DU-Editing Enzyme APOBEC-3A 3 4
  • Phorbolin-1 3 4
  • PHRBN 2 3
  • ARP3 2 3
  • A3A 3 4
  • Probable DNA DC->DU-Editing Enzyme APOBEC-3A 3
  • Phorbolin I 2
  • EC 3.5.4.38 4
  • BK150C2.1 3
  • APOBEC3A 5
  • EC 3.5.4 51

External Ids for APOBEC3A Gene

Previous GeneCards Identifiers for APOBEC3A Gene

  • GC22P035968
  • GC22P037591
  • GC22P037596
  • GC22P037678
  • GC22P039348
  • GC22Pr39368

Summaries for APOBEC3A Gene

Entrez Gene Summary for APOBEC3A Gene

  • 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

GeneCards Summary for APOBEC3A Gene

APOBEC3A (Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 3A) is a Protein Coding gene. Diseases associated with APOBEC3A include Bone Leiomyosarcoma and Human T-Cell Leukemia Virus Type 1. Among its related pathways are Gene Expression and mRNA Editing- C to U Conversion. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines and deoxycytidine deaminase activity. An important paralog of this gene is APOBEC3B.

UniProtKB/Swiss-Prot Summary for APOBEC3A Gene

  • DNA deaminase (cytidine deaminase) with restriction activity against viruses, foreign DNA and mobility of retrotransposons. Exhibits antiviral activity against adeno-associated virus (AAV) and human T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. Selectively targets single-stranded DNA and can deaminate both methylcytosine and cytosine in foreign DNA. Can induce somatic hypermutation in the nuclear and mitochondrial DNA. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation.

Gene Wiki entry for APOBEC3A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOBEC3A Gene

Genomics for APOBEC3A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APOBEC3A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOBEC3A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOBEC3A

Top Transcription factor binding sites by QIAGEN in the APOBEC3A gene promoter:
  • LCR-F1
  • SRF
  • SRF (504 AA)

Genomic Locations for APOBEC3A Gene

Genomic Locations for APOBEC3A Gene
chr22:38,952,741-38,992,778
(GRCh38/hg38)
Size:
40,038 bases
Orientation:
Plus strand
chr22:39,348,746-39,359,188
(GRCh37/hg19)
Size:
10,443 bases
Orientation:
Plus strand

Genomic View for APOBEC3A Gene

Genes around APOBEC3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOBEC3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOBEC3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOBEC3A Gene

Proteins for APOBEC3A Gene

  • Protein details for APOBEC3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31941-ABC3A_HUMAN
    Recommended name:
    DNA dC->dU-editing enzyme APOBEC-3A
    Protein Accession:
    P31941
    Secondary Accessions:
    • A0AVM1
    • Q12807
    • Q5JZ93
    • Q9UH18

    Protein attributes for APOBEC3A Gene

    Size:
    199 amino acids
    Molecular mass:
    23012 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with AGO2. Interacts with TRIB3 (via N-terminus).
    Miscellaneous:
    • It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22.
    • [Isoform 1]: Enzymatically active.
    • [Isoform 2]: Enzymatically active.

    Three dimensional structures from OCA and Proteopedia for APOBEC3A Gene

    Alternative splice isoforms for APOBEC3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APOBEC3A Gene

Selected DME Specific Peptides for APOBEC3A Gene

P31941:
  • EHSQALSGRL
  • FTSNFNN
  • PFQPWDGL

Post-translational modifications for APOBEC3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APOBEC3A Gene

Domains & Families for APOBEC3A Gene

Gene Families for APOBEC3A Gene

Protein Domains for APOBEC3A Gene

InterPro:
Blocks:
  • Cytidine/deoxycytidylate deaminase, zinc-binding region
  • APOBEC-like, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for APOBEC3A Gene

GenScript: Design optimal peptide antigens:
  • Phorbolin-1 (ABC3A_HUMAN)
  • APOBEC3A protein (B7ZLZ1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P31941

UniProtKB/Swiss-Prot:

ABC3A_HUMAN :
  • Belongs to the cytidine and deoxycytidylate deaminase family.
Family:
  • Belongs to the cytidine and deoxycytidylate deaminase family.
genes like me logo Genes that share domains with APOBEC3A: view

Function for APOBEC3A Gene

Molecular function for APOBEC3A Gene

UniProtKB/Swiss-Prot Function:
DNA deaminase (cytidine deaminase) with restriction activity against viruses, foreign DNA and mobility of retrotransposons. Exhibits antiviral activity against adeno-associated virus (AAV) and human T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. Selectively targets single-stranded DNA and can deaminate both methylcytosine and cytosine in foreign DNA. Can induce somatic hypermutation in the nuclear and mitochondrial DNA. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxycytidine in a single-stranded DNA + H(+) + H2O = a 2'-deoxyuridine in a single-stranded DNA + NH4(+); Xref=Rhea:RHEA:50948, Rhea:RHEA-COMP:12846, Rhea:RHEA-COMP:12847, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:85452, ChEBI:CHEBI:133902; EC=3.5.4.38; Evidence={ECO:0000269|PubMed:16527742, ECO:0000269|PubMed:20062055, ECO:0000269|PubMed:20615867, ECO:0000269|PubMed:21123384};.
UniProtKB/Swiss-Prot Induction:
Up-regulated by interferon and CpG single-stranded DNA (at protein level).

Enzyme Numbers (IUBMB) for APOBEC3A Gene

Phenotypes From GWAS Catalog for APOBEC3A Gene

Gene Ontology (GO) - Molecular Function for APOBEC3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA 21873635
GO:0003824 catalytic activity IEA --
GO:0004126 cytidine deaminase activity IMP 20062055
GO:0005515 protein binding IPI 22915799
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with APOBEC3A: view
genes like me logo Genes that share phenotypes with APOBEC3A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOBEC3A

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for APOBEC3A Gene

Localization for APOBEC3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOBEC3A Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOBEC3A gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for APOBEC3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IBA 21873635
GO:0005634 nucleus IBA,IDA 16527742
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IDA 16527742
genes like me logo Genes that share ontologies with APOBEC3A: view

Pathways & Interactions for APOBEC3A Gene

genes like me logo Genes that share pathways with APOBEC3A: view

Pathways by source for APOBEC3A Gene

SIGNOR curated interactions for APOBEC3A Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for APOBEC3A Gene

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:0044355 clearance of foreign intracellular DNA IDA 20062055
genes like me logo Genes that share ontologies with APOBEC3A: view

Drugs & Compounds for APOBEC3A Gene

(4) Drugs for APOBEC3A Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytarabine Approved, Experimental, Investigational Pharma 1335
Ammonia Approved Pharma 0
Water Approved Pharma 0
Uridine Experimental, Investigational Pharma 0
genes like me logo Genes that share compounds with APOBEC3A: view

Transcripts for APOBEC3A Gene

mRNA/cDNA for APOBEC3A Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOBEC3A

Alternative Splicing Database (ASD) splice patterns (SP) for APOBEC3A Gene

No ASD Table

Relevant External Links for APOBEC3A Gene

GeneLoc Exon Structure for
APOBEC3A

Expression for APOBEC3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOBEC3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APOBEC3A Gene

This gene is overexpressed in Whole Blood (x41.2) and Minor Salivary Gland (x5.0).

Protein differential expression in normal tissues from HIPED for APOBEC3A Gene

This gene is overexpressed in Cervix (47.4), Heart (8.4), Monocytes (6.8), and Spleen (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APOBEC3A Gene



Protein tissue co-expression partners for APOBEC3A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APOBEC3A

mRNA Expression by UniProt/SwissProt for APOBEC3A Gene:

P31941-ABC3A_HUMAN
Tissue specificity: Expressed in peripheral leukocytes with higher expression in CD14-positive phagocytic cells. Highly expressed in keratinocytes and in periphery blood monocytes. Also detected in non-lymphoid tissues including lung and adipose tissues. Found at high levels in colorectal adenocarcinoma, Burkitt's lymphoma and chronic myelogenous leukemia.

Evidence on tissue expression from TISSUES for APOBEC3A Gene

  • Skin(4.4)
  • Nervous system(4.4)
  • Kidney(2.5)
  • Blood(2.5)
  • Bone marrow(2.4)
  • Spleen(2.4)
  • Intestine(2.3)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with APOBEC3A: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for APOBEC3A Gene

Orthologs for APOBEC3A Gene

This gene was present in the common ancestor of mammals.

Orthologs for APOBEC3A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia APOBEC3A 30 31
  • 98.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia APOBEC3A 30 31
  • 66.67 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia APOBEC3A 30
  • 65.38 (n)
-- 31
  • 46 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
Species where no ortholog for APOBEC3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for APOBEC3A Gene

ENSEMBL:
Gene Tree for APOBEC3A (if available)
TreeFam:
Gene Tree for APOBEC3A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOBEC3A: view image

Paralogs for APOBEC3A Gene

(10) SIMAP similar genes for APOBEC3A Gene using alignment to 2 proteins:

  • ABC3A_HUMAN
  • B7ZLZ1_HUMAN

Pseudogenes.org Pseudogenes for APOBEC3A Gene

genes like me logo Genes that share paralogs with APOBEC3A: view

Variants for APOBEC3A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOBEC3A Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs17000556 - p.Thr19Ala

Additional dbSNP identifiers (rs#s) for APOBEC3A Gene

Structural Variations from Database of Genomic Variants (DGV) for APOBEC3A Gene

Variant ID Type Subtype PubMed ID
dgv172n111 CNV deletion 26073780
dgv36n47 CNV loss 21111241
dgv4568n100 CNV loss 25217958
dgv4569n100 CNV loss 25217958
dgv770n67 CNV loss 20364138
dgv833e199 CNV deletion 23128226
esv2495318 CNV deletion 19546169
esv2604392 CNV loss 19546169
esv2724238 CNV deletion 23290073
esv2760711 CNV loss 21179565
esv2763703 CNV loss 21179565
esv28999 CNV loss 19812545
esv29947 CNV loss 18421352
esv33846 CNV gain+loss 17666407
esv3568392 CNV loss 25503493
esv3647746 CNV loss 21293372
nsv1056597 CNV loss 25217958
nsv198 CNV deletion 15895083
nsv3627 CNV deletion 18451855
nsv589021 CNV loss 21841781
nsv829221 CNV loss 20364138
nsv964630 OTHER complex 23825009
nsv979675 CNV duplication 23825009
nsv9907 CNV loss 18304495

Variation tolerance for APOBEC3A Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOBEC3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOBEC3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOBEC3A Gene

Disorders for APOBEC3A Gene

MalaCards: The human disease database

(5) MalaCards diseases for APOBEC3A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bone leiomyosarcoma
human t-cell leukemia virus type 1
  • htlv-1
plantar wart
  • verruca plantaris
recessive dystrophic epidermolysis bullosa
  • autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
psoriasis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for APOBEC3A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with APOBEC3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APOBEC3A Gene

Publications for APOBEC3A Gene

  1. Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1. (PMID: 10469298) Madsen P … Celis JE (The Journal of investigative dermatology 1999) 2 3 4 23
  2. APOBEC3A is a potent inhibitor of adeno-associated virus and retrotransposons. (PMID: 16527742) Chen H … Weitzman MD (Current biology : CB 2006) 3 4 23
  3. An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22. (PMID: 11863358) Jarmuz A … Navaratnam N (Genomics 2002) 2 3 4
  4. HIV-1 replication and APOBEC3 antiviral activity are not regulated by P bodies. (PMID: 22915799) Phalora PK … Malim MH (Journal of virology 2012) 3 4
  5. Human Tribbles 3 protects nuclear DNA from cytidine deamination by APOBEC3A. (PMID: 22977230) Aynaud MM … Vartanian JP (The Journal of biological chemistry 2012) 3 4

Products for APOBEC3A Gene

  • Biorbyt antibodies for APOBEC3A

Sources for APOBEC3A Gene