APOBEC1 (Kr.12p13.31)

APOBEC1 (Kr..12p13.31)

https://www.ncbi.nlm.nih.gov/gene/339

Also known as BEDP; HEPR; CDAR1; APOBEC-1

Summary 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 meurofibromin-1 mRNAs  ( neurofibromatosis-1(NF-1). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

Expression Biased expression in duodenum (RPKM 22.2), small intestine (RPKM 18.5) and 1 other tissue See more Orthologs mouse all

 

 https://media.springernature.com/lw785/springer-static/image/art%3A10.1186%2Fs13578-017-0156-4/MediaObjects/13578_2017_156_Fig1_HTML.gif

 

 

 

Related articles in PubMed

1. Hypermutation induced by APOBEC-1 overexpression can be eliminated. Chen Z, et al. RNA, 2010 May. PMID 20348446, Free PMC Article
2. NMR structure of the apoB mRNA stem-loop and its interaction with the C to U editing APOBEC1 complementary factor. Maris C, et al. RNA, 2005 Feb. PMID 15659357, Free PMC Article
3. Human apolipoprotein B RNA editing deaminase gene (APOBEC1). Fujino T, et al. Genomics, 1998 Jan 15. PMID 9479499
4. Characterization of the human apobec-1 gene: expression in gastrointestinal tissues determined by alternative splicing with production of a novel truncated peptide. Hirano K, et al. J Lipid Res, 1997 May. PMID 9186903
5. Molecular cloning of a human small intestinal apolipoprotein B mRNA editing protein. Hadjiagapiou C, et al. Nucleic Acids Res, 1994 May 25. PMID 8208612, Free PMC Article
   

See all (45) citations in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

1. Luciferase-fused 3' untranslated region of human Dickkopf1 activity was highly upregulated in A1CF-overexpressed MCF7 cells, but this upregulation can be inhibited by mutating conserved binding motifs of Dickkopf1 3' untranslated region. A1CF played a crucial role in cell migration and survival through affecting 3' untranslated region of Dickkopf1 to upregulate its expression in MCF7 cells.
2. AICDA/APOBEC family of cytidine deaminases is significant in innate immunity, as it restricts numerous viruses, including HBV, through hypermutationdependent and independent mechanisms. (Review)
3. Results show that expression of APOBEC1 induces a mutator phenotype in 2 different cellular models.
4. An APOBEC-mediated mutational signature in 47% of 192 tumors suggests that APOBEC-catalyzed deamination provides a source of DNA damage in esophageal squamous cell carcinoma.
5. hnRNPQ6 is required for APOBEC1-enhanced IL8 production.
6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
7. Studies indicate the APOBEC family consists of 11 members: APOBEC-1 (Apo1), APOBEC-2 (Apo2), activation induced cytidine deaminase (AID), APOBEC- 3A, -3B, -3C, -3DE, -3F, -3H (Apo3A-H) and APOBEC- 4 (Apo4).
8. The hypermutation activity of APOBEC-1 was decreased to background levels by a single point APOBEC-1 mutation of P29F or E181Q, while 50% of wild-type control editing at the normal site was retained.
9. The data presented in this report suggested that similar regulatory mechanisms controlling the functional interaction of APOBEC-1 with ACF might be operational during enterocyte differentiation.
10. Identified two novel variants, rs1349411 (APOBEC1) and rs1424032, for serum apoB levels in Mexicans.
    

Submit: New GeneRIF Correction See all GeneRIFs (20)

Preferred Names

C->U-editing enzyme APOBEC-1

Names

apolipoprotein B mRNA editing enzyme complex-1

apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1

apolipoprotein B mRNA-editing enzyme 1

mRNA(cytosine(6666)) deaminase 1

Conserved Domains (2) summary

cd01283
Location:33 → 105

cytidine_deaminase; Cytidine deaminase zinc-binding domain. These enzymes are Zn dependent. The zinc ion in the active site plays a central role in the proposed catalytic mechanism, activating a water molecule to form a hydroxide ion that performs a nucleophilic attack on ...

pfam05240
Location:125 → 177

APOBEC_C; APOBEC-like C-terminal domain

Peptide and history , isoform a

C->U-editing enzyme APOBEC-1 isoform a [Homo sapiens]

NCBI Reference Sequence: NP_001291495.1
Identical Proteins FASTA Graphics

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LOCUS       NP_001291495             236 aa            linear   PRI 10-MAY-2018
DEFINITION  C->U-editing enzyme APOBEC-1 isoform a [Homo sapiens].
ACCESSION   NP_001291495 XP_005253412
VERSION     NP_001291495.1
DBSOURCE    REFSEQ: accession NM_001304566.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 236)
  AUTHORS   Yan X, Li Q, Ni D, Xie Y, He Q, Wan Q, Liu Y, Lyu Z, Mao Z and Zhou
            Q.
  TITLE     Apobec-1 complementation factor regulates cell migration and
            apoptosis through Dickkopf1 by acting on its 3' untranslated region
            in MCF7 cells
  JOURNAL   Tumour Biol. 39 (6), 1010428317706218 (2017)
   PUBMED   28639893
  REMARK    GeneRIF: Luciferase-fused 3' untranslated region of human Dickkopf1
            activity was highly upregulated in A1CF-overexpressed MCF7 cells,
            but this upregulation can be inhibited by mutating conserved
            binding motifs of Dickkopf1 3' untranslated region. A1CF played a
            crucial role in cell migration and survival through affecting 3'
            untranslated region of Dickkopf1 to upregulate its expression in
            MCF7 cells.
REFERENCE   2  (residues 1 to 236)
  AUTHORS   He X, Li J, Wu J, Zhang M and Gao P.
  TITLE     Associations between activation-induced cytidine
            deaminase/apolipoprotein B mRNA editing enzyme, catalytic
            polypeptide-like cytidine deaminase expression, hepatitis B virus
            (HBV) replication and HBV-associated liver disease (Review)
  JOURNAL   Mol Med Rep 12 (5), 6405-6414 (2015)
   PUBMED   26398702
  REMARK    GeneRIF: AICDA/APOBEC family of cytidine deaminases is significant
            in innate immunity, as it restricts numerous viruses, including
            HBV, through hypermutationdependent and independent mechanisms.
            (Review)
            Review article
REFERENCE   3  (residues 1 to 236)
  AUTHORS   Zhang L, Zhou Y, Cheng C, Cui H, Cheng L, Kong P, Wang J, Li Y,
            Chen W, Song B, Wang F, Jia Z, Li L, Li Y, Yang B, Liu J, Shi R, Bi
            Y, Zhang Y, Wang J, Zhao Z, Hu X, Yang J, Li H, Gao Z, Chen G,
            Huang X, Yang X, Wan S, Chen C, Li B, Tan Y, Chen L, He M, Xie S,
            Li X, Zhuang X, Wang M, Xia Z, Luo L, Ma J, Dong B, Zhao J, Song Y,
            Ou Y, Li E, Xu L, Wang J, Xi Y, Li G, Xu E, Liang J, Yang X, Guo J,
            Chen X, Zhang Y, Li Q, Liu L, Li Y, Zhang X, Yang H, Lin D, Cheng
            X, Guo Y, Wang J, Zhan Q and Cui Y.
  TITLE     Genomic analyses reveal mutational signatures and frequently
            altered genes in esophageal squamous cell carcinoma
  JOURNAL   Am. J. Hum. Genet. 96 (4), 597-611 (2015)
   PUBMED   25839328
  REMARK    GeneRIF: An APOBEC-mediated mutational signature in 47% of 192
            tumors suggests that APOBEC-catalyzed deamination provides a source
            of DNA damage in esophageal squamous cell carcinoma.
            Erratum:[Am J Hum Genet. 2015 Nov 5;97(5):769]
REFERENCE   4  (residues 1 to 236)
  AUTHORS   Shimizu Y, Nishitsuji H, Marusawa H, Ujino S, Takaku H and
            Shimotohno K.
  TITLE     The RNA-editing enzyme APOBEC1 requires heterogeneous nuclear
            ribonucleoprotein Q isoform 6 for efficient interaction with
            interleukin-8 mRNA
  JOURNAL   J. Biol. Chem. 289 (38), 26226-26238 (2014)
   PUBMED   25100733
  REMARK    GeneRIF: hnRNPQ6 is required for APOBEC1-enhanced IL8 production.
REFERENCE   5  (residues 1 to 236)
  AUTHORS   Saraconi,G., Severi,F., Sala,C., Mattiuz,G. and Conticello,S.G.
  TITLE     The RNA editing enzyme APOBEC1 induces somatic mutations and a
            compatible mutational signature is present in esophageal
            adenocarcinomas
  JOURNAL   Genome Biol. 15 (7), 417 (2014)
   PUBMED   25085003
  REMARK    GeneRIF: Results show that expression of APOBEC1 induces a mutator
            phenotype in 2 different cellular models.
            Erratum:[Genome Biol. 2014;15(11):497]
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 236)
  AUTHORS   Morrison JR, Paszty C, Stevens ME, Hughes SD, Forte T, Scott J and
            Rubin EM.
  TITLE     Apolipoprotein B RNA editing enzyme-deficient mice are viable
            despite alterations in lipoprotein metabolism
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 93 (14), 7154-7159 (1996)
   PUBMED   8692961
REFERENCE   7  (residues 1 to 236)
  AUTHORS   Navaratnam N, Bhattacharya S, Fujino T, Patel D, Jarmuz AL and
            Scott J.
  TITLE     Evolutionary origins of apoB mRNA editing: catalysis by a cytidine
            deaminase that has acquired a novel RNA-binding motif at its active
            site
  JOURNAL   Cell 81 (2), 187-195 (1995)
   PUBMED   7736571
REFERENCE   8  (residues 1 to 236)
  AUTHORS   Espinosa R 3rd, Funahashi T, Hadjiagapiou C, Le Beau MM and
            Davidson NO.
  TITLE     Assignment of the gene encoding the human apolipoprotein B mRNA
            editing enzyme (APOBEC1) to chromosome 12p13.1
  JOURNAL   Genomics 24 (2), 414-415 (1994)
   PUBMED   7698776
REFERENCE   9  (residues 1 to 236)
  AUTHORS   Lau PP, Zhu HJ, Baldini A, Charnsangavej C and Chan L.
  TITLE     Dimeric structure of a human apolipoprotein B mRNA editing protein
            and cloning and chromosomal localization of its gene
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 91 (18), 8522-8526 (1994)
   PUBMED   8078915
REFERENCE   10 (residues 1 to 236)
  AUTHORS   Hadjiagapiou C, Giannoni F, Funahashi T, Skarosi SF and Davidson
            NO.
  TITLE     Molecular cloning of a human small intestinal apolipoprotein B mRNA
            editing protein
  JOURNAL   Nucleic Acids Res. 22 (10), 1874-1879 (1994)
   PUBMED   8208612
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L26234.1, AC006927.27, U72891.1
            and AI380263.1.
            On Feb 4, 2015 this sequence version replaced XP_005253412.1.
            
            Summary: 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].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: L26234.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1968540, SAMEA2142586
                                           [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..236
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..236
                     /product="C->U-editing enzyme APOBEC-1 isoform a"
                     /EC_number="3.5.4.36"
                     /note="C->U-editing enzyme APOBEC-1; apolipoprotein B mRNA
                     editing enzyme complex-1; apolipoprotein B mRNA-editing
                     enzyme 1; mRNA(cytosine(6666)) deaminase 1; apolipoprotein
                     B mRNA editing enzyme, catalytic polypeptide 1"
                     /calculated_mol_wt=28061
     Region          33..105
                     /region_name="cytidine_deaminase"
                     /note="Cytidine deaminase zinc-binding domain. These
                     enzymes are Zn dependent. The zinc ion in the active site
                     plays a central role in the proposed catalytic mechanism,
                     activating a water molecule to form a hydroxide ion that
                     performs a nucleophilic attack on...; cd01283"
                     /db_xref="CDD:238610"
     Site            order(61..63,92..93,96)
                     /site_type="active"
                     /note="catalytic motif [active]"
                     /db_xref="CDD:238610"
     Site            order(61,63,93,96)
                     /site_type="other"
                     /note="Zn binding site [ion binding]"
                     /db_xref="CDD:238610"
     Region          125..177
                     /region_name="APOBEC_C"
                     /note="APOBEC-like C-terminal domain; pfam05240"
                     /db_xref="CDD:283020"
     CDS             1..236
                     /gene="APOBEC1"
                     /gene_synonym="APOBEC-1; BEDP; CDAR1; HEPR"
                     /coded_by="NM_001304566.1:25..735"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS8579.1"
                     /db_xref="GeneID:339"
                     /db_xref="HGNC:HGNC:604"
                     /db_xref="MIM:600130"
ORIGIN      
        1 mtsekgpstg dptlrrriep wefdvfydpr elrkeaclly eikwgmsrki wrssgknttn
       61 hvevnfikkf tserdfhpsm scsitwflsw spcwecsqai reflsrhpgv tlviyvarlf
      121 whmdqqnrqg lrdlvnsgvt iqimraseyy hcwrnfvnyp pgdeahwpqy pplwmmlyal
      181 elhciilslp pclkisrrwq nhltffrlhl qnchyqtipp hillatglih psvawr
//

Muistiin 24.5.2018