This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence... See more...

Aliases for APOBEC3H Gene

Aliases for APOBEC3H Gene

  • Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 3H 2 3 5
  • Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide-Like 3H 2 3
  • DNA DC->DU-Editing Enzyme APOBEC-3H 3 4
  • APOBEC-Related Protein 10 3 4
  • ARP-10 3 4
  • ARP10 2 3
  • A3H 3 4
  • Apolipoprotein B MRNA-Editing Enzyme Catalytic Polypeptide-Like 3H 4
  • EC 3.5.4.38 4
  • APOBEC3H 5

External Ids for APOBEC3H Gene

Previous GeneCards Identifiers for APOBEC3H Gene

  • GC22P037823
  • GC22P039493
  • GC22P022460

Summaries for APOBEC3H Gene

Entrez Gene Summary for APOBEC3H Gene

  • This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

GeneCards Summary for APOBEC3H Gene

APOBEC3H (Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 3H) is a Protein Coding gene. Diseases associated with APOBEC3H include Plantar Wart and Human Immunodeficiency 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 and cytidine deaminase activity. An important paralog of this gene is APOBEC3C.

UniProtKB/Swiss-Prot Summary for APOBEC3H Gene

  • DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. The A3H-var/haplotype 2 exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA. Exhibits antiviral activity also against T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons.

Gene Wiki entry for APOBEC3H Gene

Additional gene information for APOBEC3H Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOBEC3H Gene

Genomics for APOBEC3H Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APOBEC3H 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 APOBEC3H on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOBEC3H

Top Transcription factor binding sites by QIAGEN in the APOBEC3H gene promoter:
  • c-Myc
  • C/EBPalpha
  • GR
  • GR-alpha
  • Max
  • MIF-1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • XBP-1

Genomic Locations for APOBEC3H Gene

Genomic Locations for APOBEC3H Gene
chr22:39,097,203-39,104,067
(GRCh38/hg38)
Size:
6,865 bases
Orientation:
Plus strand
chr22:39,493,229-39,500,072
(GRCh37/hg19)
Size:
6,844 bases
Orientation:
Plus strand

Genomic View for APOBEC3H Gene

Genes around APOBEC3H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOBEC3H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOBEC3H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOBEC3H Gene

Proteins for APOBEC3H Gene

  • Protein details for APOBEC3H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NTF7-ABC3H_HUMAN
    Recommended name:
    DNA dC->dU-editing enzyme APOBEC-3H
    Protein Accession:
    Q6NTF7
    Secondary Accessions:
    • B0QYP0
    • B0QYP1
    • B7TQM5
    • E9PF38
    • M4W6S4
    • Q5JYL9
    • Q6IC87

    Protein attributes for APOBEC3H Gene

    Size:
    200 amino acids
    Molecular mass:
    23532 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with AGO1, AGO2 and AGO3.
    Miscellaneous:
    • APOBEC3H from old world monkeys has retained its antiviral activity, while it is lost in other primates.
    • It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22.

    Three dimensional structures from OCA and Proteopedia for APOBEC3H Gene

    Alternative splice isoforms for APOBEC3H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APOBEC3H Gene

Post-translational modifications for APOBEC3H Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for APOBEC3H Gene

Domains & Families for APOBEC3H Gene

Gene Families for APOBEC3H Gene

Protein Domains for APOBEC3H Gene

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

Suggested Antigen Peptide Sequences for APOBEC3H Gene

GenScript: Design optimal peptide antigens:
  • Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3H (ABC3H_HUMAN)
  • Apolipoprotein B mRNA editing enzyme catalytic polypeptide-like protein 3H (B7T0V0_HUMAN)
  • APOBEC3H (B7TQM3_HUMAN)
  • APOBEC3H (B7TQM4_HUMAN)
  • APOBEC3H (B7TQM5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NTF7

UniProtKB/Swiss-Prot:

ABC3H_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 APOBEC3H: view

Function for APOBEC3H Gene

Molecular function for APOBEC3H Gene

UniProtKB/Swiss-Prot Function:
DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. The A3H-var/haplotype 2 exhibits antiviral activity against vif-deficient HIV-1. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA. Exhibits antiviral activity also against T-cell leukemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons.
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;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Antiviral activity is neutralized by the HIV-1 virion infectivity factor (VIF), that prevents its incorporation into progeny virions by both inhibiting its translation and/or by inducing its ubiquitination and subsequent degradation by the 26S proteasome.

Enzyme Numbers (IUBMB) for APOBEC3H Gene

Phenotypes From GWAS Catalog for APOBEC3H Gene

Gene Ontology (GO) - Molecular Function for APOBEC3H 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 IDA 16571802
GO:0005515 protein binding IPI 22915799
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with APOBEC3H: view
genes like me logo Genes that share phenotypes with APOBEC3H: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOBEC3H

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for APOBEC3H Gene

Localization for APOBEC3H Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOBEC3H Gene

Nucleus. Cytoplasm. Cytoplasm, P-body. Note=Haplotype 1 is distributed in both the nucleus and cytoplasm, whereas haplotype 2 is predominantly cytoplasmic.

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 APOBEC3H gene
Compartment Confidence
nucleus 5
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for APOBEC3H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IEA,IDA 22915799
GO:0005634 nucleus IBA,IDA 18779051
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IDA 18779051
genes like me logo Genes that share ontologies with APOBEC3H: view

Pathways & Interactions for APOBEC3H Gene

genes like me logo Genes that share pathways with APOBEC3H: view

Pathways by source for APOBEC3H Gene

Gene Ontology (GO) - Biological Process for APOBEC3H 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 IMP 18827027
GO:0016554 cytidine to uridine editing IBA 21873635
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with APOBEC3H: view

No data available for SIGNOR curated interactions for APOBEC3H Gene

Drugs & Compounds for APOBEC3H Gene

(4) Drugs for APOBEC3H Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Cytarabine Approved, Experimental, Investigational Pharma 1335
Water Approved Pharma 0
Uridine Experimental, Investigational Pharma 0
genes like me logo Genes that share compounds with APOBEC3H: view

Transcripts for APOBEC3H Gene

mRNA/cDNA for APOBEC3H Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 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 APOBEC3H

Alternative Splicing Database (ASD) splice patterns (SP) for APOBEC3H Gene

No ASD Table

Relevant External Links for APOBEC3H Gene

GeneLoc Exon Structure for
APOBEC3H

Expression for APOBEC3H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOBEC3H Gene

mRNA differential expression in normal tissues according to GTEx for APOBEC3H Gene

This gene is overexpressed in Whole Blood (x6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APOBEC3H Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APOBEC3H

SOURCE GeneReport for Unigene cluster for APOBEC3H Gene:

Hs.440515

mRNA Expression by UniProt/SwissProt for APOBEC3H Gene:

Q6NTF7-ABC3H_HUMAN
Tissue specificity: Expressed in lymphoid organs. Also detected in non-lymphoid tissues including lung, testis, ovary, fetal liver and skin.

Evidence on tissue expression from TISSUES for APOBEC3H Gene

  • Nervous system(4.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with APOBEC3H: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for APOBEC3H Gene

Orthologs for APOBEC3H Gene

This gene was present in the common ancestor of mammals.

Orthologs for APOBEC3H Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia APOBEC3H 30 31
  • 97.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia APOBEC3H 31
  • 45 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia APOBEC3Z3 31
  • 23 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Apobec3 31
  • 19 (a)
OneToOne
Species where no ortholog for APOBEC3H 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)
  • 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 APOBEC3H Gene

ENSEMBL:
Gene Tree for APOBEC3H (if available)
TreeFam:
Gene Tree for APOBEC3H (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOBEC3H: view image

Paralogs for APOBEC3H Gene

(6) SIMAP similar genes for APOBEC3H Gene using alignment to 9 proteins:

  • ABC3H_HUMAN
  • B7T0V0_HUMAN
  • B7TQM3_HUMAN
  • B7TQM4_HUMAN
  • B7TQM6_HUMAN
  • B7TQM7_HUMAN
  • B7TQM8_HUMAN
  • B7TQM9_HUMAN
  • M4W6S4_HUMAN
genes like me logo Genes that share paralogs with APOBEC3H: view

Variants for APOBEC3H Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for APOBEC3H Gene

ABC3H_HUMAN-Q6NTF7
There are at least 4 different haplotypes in the human population. The allele A3H-var/haplotype 2 encodes a more stable protein which is able to block HIV-1 replication. The displayed allele (haplotype 1) is unstable and inefficient to block HIV-1 replication.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOBEC3H Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
717866 Benign: not provided 39,101,407(+) C/T SYNONYMOUS_VARIANT
rs139293 - p.Arg18Leu
rs139297 - p.Gly105Arg
rs139298 - p.Lys121Glu
rs139299 - p.Lys121Asn

Additional dbSNP identifiers (rs#s) for APOBEC3H Gene

Structural Variations from Database of Genomic Variants (DGV) for APOBEC3H Gene

Variant ID Type Subtype PubMed ID
nsv1066354 CNV gain 25217958
nsv510807 CNV deletion 20534489
nsv834196 CNV loss 17160897
nsv834197 CNV gain 17160897

Variation tolerance for APOBEC3H Gene

Residual Variation Intolerance Score: 84.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.52; 92.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOBEC3H Gene

Human Gene Mutation Database (HGMD)
APOBEC3H
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOBEC3H

Disorders for APOBEC3H Gene

MalaCards: The human disease database

(3) MalaCards diseases for APOBEC3H Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
plantar wart
  • verruca plantaris
human immunodeficiency virus type 1
  • human immunodeficiency virus type 1, susceptibility to
recessive dystrophic epidermolysis bullosa
  • autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with APOBEC3H: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APOBEC3H Gene

Publications for APOBEC3H Gene

  1. Adaptive evolution and antiviral activity of the conserved mammalian cytidine deaminase APOBEC3H. (PMID: 16571802) OhAinle M … Emerman M (Journal of virology 2006) 2 3 4
  2. APOBEC3G restricts HIV-1 to a greater extent than APOBEC3F and APOBEC3DE in human primary CD4+ T cells and macrophages. (PMID: 23097438) Chaipan C … Pathak VK (Journal of virology 2013) 3 4
  3. 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
  4. Retroelements versus APOBEC3 family members: No great escape from the magnificent seven. (PMID: 22912627) Arias JF … Tokunaga K (Frontiers in microbiology 2012) 3 4
  5. APOBEC3A, APOBEC3B, and APOBEC3H haplotype 2 restrict human T-lymphotropic virus type 1. (PMID: 22457529) Ooms M … Münk C (Journal of virology 2012) 3 4

Products for APOBEC3H Gene

Sources for APOBEC3H Gene