Free for academic non-profit institutions. Other users need a Commercial license

Aliases for APOBEC1 Gene

Aliases for APOBEC1 Gene

  • Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 1 2 3 5
  • Apolipoprotein B MRNA Editing Enzyme, Catalytic Polypeptide 1 2 3
  • Apolipoprotein B MRNA-Editing Enzyme 1 3 4
  • MRNA(Cytosine(6666)) Deaminase 1 3 4
  • HEPR 3 4
  • Apolipoprotein B MRNA Editing Enzyme Complex-1 3
  • C->U-Editing Enzyme APOBEC-1 3
  • EC 3.5.4.36 4
  • APOBEC-1 3
  • EC 3.5.4 61
  • CDAR1 3
  • BEDP 3

External Ids for APOBEC1 Gene

Previous GeneCards Identifiers for APOBEC1 Gene

  • GC12M007674
  • GC12M007970
  • GC12M007693
  • GC12M007801
  • GC12M007615

Summaries for APOBEC1 Gene

Entrez Gene Summary for APOBEC1 Gene

  • This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

GeneCards Summary for APOBEC1 Gene

APOBEC1 (Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 1) is a Protein Coding gene. Diseases associated with APOBEC1 include Hypercholesterolemia, Familial. Among its related pathways are mRNA Editing- C to U Conversion and Gene Expression. GO annotations related to this gene include RNA binding and hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines. An important paralog of this gene is AICDA.

UniProtKB/Swiss-Prot for APOBEC1 Gene

  • Catalytic component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in the APOB mRNA. Also involved in CGA (Arg) to UGA (Stop) editing in the NF1 mRNA. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation.

Gene Wiki entry for APOBEC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOBEC1 Gene

Genomics for APOBEC1 Gene

Regulatory Elements for APOBEC1 Gene

Enhancers for APOBEC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F007674 1.2 Ensembl ENCODE 0.8 -4.9 -4939 1.4 DPPA3 APOBEC1 GDF3
GH12F007665 0.2 ENCODE 0.8 +3.6 3560 3.6 ELF3 CTCF ZNF654 SAP130 PPARG RAD21 RARA ZNF121 GATA3 IKZF1 APOBEC1 GC12M007647
GH12F007677 0.8 Ensembl ENCODE 0.4 -7.0 -6963 0.9 HDAC1 PKNOX1 ARNT TBL1XR1 RAD21 ELK1 GATA2 ZNF654 NCOA1 CEBPB APOBEC1 GDF3
GH12F007693 1.1 Ensembl ENCODE 0.3 -24.4 -24375 2.7 ZNF664 BCL11A MAX POU5F1 ZNF18 GDF3 APOBEC1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around APOBEC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for APOBEC1 Gene

Chromosome:
12
Start:
7,649,400 bp from pter
End:
7,670,599 bp from pter
Size:
21,200 bases
Orientation:
Minus strand

Genomic View for APOBEC1 Gene

Genes around APOBEC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOBEC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOBEC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOBEC1 Gene

Proteins for APOBEC1 Gene

  • Protein details for APOBEC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41238-ABEC1_HUMAN
    Recommended name:
    C->U-editing enzyme APOBEC-1
    Protein Accession:
    P41238
    Secondary Accessions:
    • Q9UE64
    • Q9UM71

    Protein attributes for APOBEC1 Gene

    Size:
    236 amino acids
    Molecular mass:
    28192 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer. Part of the apolipoprotein B mRNA editing complex with A1CF. Found in a complex with CELF2/CUGBP2 and A1CF. Interacts with HNRPAB and SYNCRIP.

neXtProt entry for APOBEC1 Gene

Selected DME Specific Peptides for APOBEC1 Gene

Post-translational modifications for APOBEC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APOBEC1 Gene

Domains & Families for APOBEC1 Gene

Suggested Antigen Peptide Sequences for APOBEC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P41238

UniProtKB/Swiss-Prot:

ABEC1_HUMAN :
  • Contains 1 CMP/dCMP-type deaminase domain.
  • Belongs to the cytidine and deoxycytidylate deaminase family.
Domain:
  • Contains 1 CMP/dCMP-type deaminase domain.
Family:
  • Belongs to the cytidine and deoxycytidylate deaminase family.
genes like me logo Genes that share domains with APOBEC1: view

Function for APOBEC1 Gene

Molecular function for APOBEC1 Gene

GENATLAS Biochemistry:
apolipoprotein B,mRNA editing component 1 (catalytic subunit),expressed in the small intestine and liver
UniProtKB/Swiss-Prot CatalyticActivity:
Cytosine(6666) in apolipoprotein B mRNA + H(2)O = uracil(6666) in apolipoprotein B mRNA + NH(3).
UniProtKB/Swiss-Prot Function:
Catalytic component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in the APOB mRNA. Also involved in CGA (Arg) to UGA (Stop) editing in the NF1 mRNA. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation.

Enzyme Numbers (IUBMB) for APOBEC1 Gene

Gene Ontology (GO) - Molecular Function for APOBEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS 7736571
GO:0003729 mRNA binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004126 cytidine deaminase activity TAS --
GO:0004131 cytosine deaminase activity IEA --
genes like me logo Genes that share ontologies with APOBEC1: view
genes like me logo Genes that share phenotypes with APOBEC1: view

Animal Models for APOBEC1 Gene

MGI Knock Outs for APOBEC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for APOBEC1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for APOBEC1 Gene

Localization for APOBEC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOBEC1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APOBEC1 Gene COMPARTMENTS Subcellular localization image for APOBEC1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for APOBEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 22580899
genes like me logo Genes that share ontologies with APOBEC1: view

Pathways & Interactions for APOBEC1 Gene

genes like me logo Genes that share pathways with APOBEC1: view

Pathways by source for APOBEC1 Gene

Gene Ontology (GO) - Biological Process for APOBEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing TAS 7736571
GO:0006397 mRNA processing IEA --
GO:0006629 lipid metabolic process TAS 8078915
GO:0006641 triglyceride metabolic process IEA --
GO:0006970 response to osmotic stress IEA --
genes like me logo Genes that share ontologies with APOBEC1: view

No data available for SIGNOR curated interactions for APOBEC1 Gene

Drugs & Compounds for APOBEC1 Gene

(4) Drugs for APOBEC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for APOBEC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with APOBEC1: view

Transcripts for APOBEC1 Gene

mRNA/cDNA for APOBEC1 Gene

Unigene Clusters for APOBEC1 Gene

Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for APOBEC1 Gene

No ASD Table

Relevant External Links for APOBEC1 Gene

GeneLoc Exon Structure for
APOBEC1
ECgene alternative splicing isoforms for
APOBEC1

Expression for APOBEC1 Gene

mRNA expression in normal human tissues for APOBEC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APOBEC1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x43.6) and Colon - Transverse (x7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for APOBEC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of APOBEC1 Gene:

APOBEC1

SOURCE GeneReport for Unigene cluster for APOBEC1 Gene:

Hs.560

mRNA Expression by UniProt/SwissProt for APOBEC1 Gene:

P41238-ABEC1_HUMAN
Tissue specificity: Expressed exclusively in the small intestine.
genes like me logo Genes that share expression patterns with APOBEC1: view

Primer Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for APOBEC1 Gene

Orthologs for APOBEC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOBEC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APOBEC1 34 35
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia APOBEC1 34 35
  • 83.05 (n)
cow
(Bos Taurus)
Mammalia APOBEC1 34 35
  • 80.23 (n)
mouse
(Mus musculus)
Mammalia Apobec1 34 16 35
  • 77.34 (n)
rat
(Rattus norvegicus)
Mammalia Apobec1 34
  • 76.61 (n)
oppossum
(Monodelphis domestica)
Mammalia APOBEC1 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APOBEC1 35
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APOBEC1 35
  • 39 (a)
OneToOne
Species where no ortholog for APOBEC1 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 APOBEC1 Gene

ENSEMBL:
Gene Tree for APOBEC1 (if available)
TreeFam:
Gene Tree for APOBEC1 (if available)

Paralogs for APOBEC1 Gene

(3) SIMAP similar genes for APOBEC1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with APOBEC1: view

Variants for APOBEC1 Gene

Sequence variations from dbSNP and Humsavar for APOBEC1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1015102 -- 7,657,703(-) agaga(C/T)ggaaa intron-variant
rs1035074 -- 7,657,584(+) AAAAA(A/C)AAACC intron-variant
rs10431307 -- 7,648,936(+) atgaa(A/G)tcatc downstream-variant-500B
rs10431308 -- 7,650,966(+) AAAGA(A/C)CTTTG intron-variant
rs10431309 -- 7,651,050(+) AGTGC(A/G)TACAA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for APOBEC1 Gene

Variant ID Type Subtype PubMed ID
dgv1350n100 CNV loss 25217958
dgv178n27 CNV loss 19166990
dgv263n67 CNV gain 20364138
dgv5e196 CNV duplication 17116639
esv3580096 CNV loss 25503493
nsv1036408 CNV loss 25217958
nsv521149 CNV loss 19592680
nsv521241 CNV loss 19592680
nsv557272 CNV loss 21841781
nsv557273 CNV loss 21841781
nsv826213 CNV gain 20364138
nsv826216 CNV gain 20364138

Variation tolerance for APOBEC1 Gene

Residual Variation Intolerance Score: 85.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APOBEC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOBEC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOBEC1 Gene

Disorders for APOBEC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for APOBEC1 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for APOBEC1

Genetic Association Database (GAD)
APOBEC1
Human Genome Epidemiology (HuGE) Navigator
APOBEC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APOBEC1
genes like me logo Genes that share disorders with APOBEC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APOBEC1 Gene

Publications for APOBEC1 Gene

  1. Investigation of the Lith6 candidate genes APOBEC1 and PPARG in human gallstone disease. (PMID: 17696929) Schafmayer C. … Tepel J. (Liver Int. 2007) 3 22 46 64
  2. C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme. (PMID: 11727199) Mukhopadhyay D. … Davidson N.O. (Am. J. Hum. Genet. 2002) 3 4 22 64
  3. Human apolipoprotein B RNA editing deaminase gene (APOBEC1). (PMID: 9479499) Fujino T. … Scott J. (Genomics 1998) 3 4 22 64
  4. Molecular cloning of a human small intestinal apolipoprotein B mRNA editing protein. (PMID: 8208612) Hadjiagapiou C. … Davidson N.O. (Nucleic Acids Res. 1994) 3 4 22 64
  5. Proprotein convertase subtilisin/kexin type 9 interacts with apolipoprotein B and prevents its intracellular degradation, irrespective of the low-density lipoprotein receptor. (PMID: 22580899) Sun H. … Teng B.B. (Arterioscler. Thromb. Vasc. Biol. 2012) 3 4 64

Products for APOBEC1 Gene

Sources for APOBEC1 Gene

Content
Loading form....