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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
  • APOBEC-Related Protein 10 3 4
  • ARP-10 3 4
  • A3H 3 4
  • Apolipoprotein B MRNA-Editing Enzyme Catalytic Polypeptide-Like 3H 4
  • DNA DC->DU-Editing Enzyme APOBEC-3H 3
  • EC 3.5.4.- 4
  • ARP10 3

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 Human Immunodeficiency Virus Type 1. Among its related pathways are Formation of the Editosome and Gene Expression. 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 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 , fRNAdb sequence ontologies and piRNA Summary for APOBEC3H Gene

Genomics for APOBEC3H Gene

GeneHancer (GH) Regulatory Elements for APOBEC3H Gene

Promoters and enhancers for APOBEC3H Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J039094 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 666.3 +0.2 234 6.6 HDGF PKNOX1 SMAD1 RB1 STAT5A BMI1 FEZF1 KLF5 IRF4 GLIS2 APOBEC3H APOBEC3G GC22P039102
GH22J039087 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 18.1 -6.7 -6731 5.6 HDGF ZSCAN4 IRF4 GLIS2 ETV6 RUNX3 EGR2 SMARCA5 GLIS1 ZNF341 LOC101927202 APOBEC3G APOBEC3H CBX6 NPTXR TAB1 ENSG00000228274 SYNGR1 CSNK1E CBX7
GH22J038567 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.9 -527.8 -527835 4.7 PKNOX1 GLI4 ZNF2 YY1 ZNF213 E2F8 KLF7 ATF7 RUNX3 ZNF263 DMC1 LOC105373031 FAM227A DDX17 SNORD83B RPL3 JOSD1 TAB1 PLA2G6 ENSG00000230149
GH22J039308 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +213.1 213110 4.3 HDGF PKNOX1 MLX ARNT ZFP64 SIN3A FEZF1 ZNF2 IRF4 POLR2B DDX17 RPL3 SYNGR1 APOBEC3A ENSG00000230149 SNORD83B ENSG00000273076 ENSG00000272669 ENSG00000225450 TAB1
GH22J039493 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +397.9 397888 3.6 HDGF PKNOX1 ATF1 RB1 SIN3A RAD21 EGR1 ZNF143 FOS THAP11 DDX17 ENSG00000272834 ATF4 ENSG00000227413 ENSG00000230149 ENSG00000273076 SNORD83B ENSG00000272669 ENSG00000225450 APOBEC3D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around APOBEC3H on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APOBEC3H gene promoter:

Genomic Locations for APOBEC3H Gene

Genomic Locations for APOBEC3H Gene
chr22:39,097,223-39,104,067
(GRCh38/hg38)
Size:
6,845 bases
Orientation:
Plus strand
chr22:39,493,229-39,500,072
(GRCh37/hg19)

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
    • Q5JYL9
    • Q6IC87

    Protein attributes for APOBEC3H Gene

    Size:
    200 amino acids
    Molecular mass:
    23531 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

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:
Cytidine + H(2)O = uridine + NH(3).
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 --
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

Clone Products

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

Gene Ontology (GO) - Cellular Components for APOBEC3H Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for APOBEC3H Gene

Pathways & Interactions for APOBEC3H Gene

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

Pathways by source for APOBEC3H Gene

Interacting Proteins 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 --
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
Water Approved Pharma 0
Cytidine Experimental Pharma 0
Uridine Experimental, Investigational Pharma 0
genes like me logo Genes that share compounds with APOBEC3H: view

Transcripts for APOBEC3H Gene

Unigene Clusters for APOBEC3H Gene

Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for APOBEC3H Gene

GeneLoc Exon Structure for
APOBEC3H
ECgene alternative splicing isoforms for
APOBEC3H

Expression for APOBEC3H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of APOBEC3H Gene:

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)
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 34 33
  • 97.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APOBEC3H 34
  • 45 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APOBEC3Z3 34
  • 23 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apobec3 34
  • 19 (a)
OneToOne
Species where no ortholog for APOBEC3H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 from dbSNP and Humsavar for APOBEC3H Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000247179 -- 39,100,498(+) T/G intron_variant
rs1000653300 -- 39,101,752(+) T/C intron_variant
rs1000750778 -- 39,096,533(+) G/A upstream_transcript_variant
rs1000762900 -- 39,097,695(+) A/T intron_variant
rs1000818144 -- 39,095,299(+) T/C upstream_transcript_variant

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

(1) MalaCards diseases for APOBEC3H Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
human immunodeficiency virus type 1
  • human immunodeficiency virus type 1, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for APOBEC3H

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 58
  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 58
  3. 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 58
  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 58
  5. Retroelements versus APOBEC3 family members: No great escape from the magnificent seven. (PMID: 22912627) Arias JF … Tokunaga K (Frontiers in microbiology 2012) 3 4 58

Products for APOBEC3H Gene

Sources for APOBEC3H Gene

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