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måndag 28 maj 2018

APOBEC3H (Kr.22q13.1) A3H, ARCD, ARP-10,

APOBEC3H  ), A3H, ARCD, ARP9


https://www.ncbi.nlm.nih.gov/gene/164668
Also known as A3H; ARP10; ARP-10
Summary 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]
Expression Broad expression in lymph node (RPKM 1.2), colon (RPKM 1.0) and 22 other tissues See more Orthologs mouse all

Preferred Names

DNA dC->dU-editing enzyme APOBEC-3H
Names
APOBEC-related protein 10
apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H

Peptide sequence and history

https://www.ncbi.nlm.nih.gov/protein/NP_001159474.2
DNA dC->dU-editing enzyme APOBEC-3H isoform SV-182 [Homo sapiens]
NCBI Reference Sequence: NP_001159474.2
Identical Proteins FASTA Graphics
LOCUS       NP_001159474             182 aa            linear   PRI 02-APR-2018
DEFINITION  DNA dC->dU-editing enzyme APOBEC-3H isoform SV-182 [Homo sapiens].
ACCESSION   NP_001159474
VERSION     NP_001159474.2
DBSOURCE    REFSEQ: accession NM_001166002.2
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 182)
  AUTHORS   Zhang Z, Gu Q, de Manuel Montero M, Bravo IG, Marques-Bonet T,
            Haussinger D and Munk C.
  TITLE     Stably expressed APOBEC3H forms a barrier for cross-species
            transmission of simian immunodeficiency virus of chimpanzee to
            humans
  JOURNAL   PLoS Pathog. 13 (12), e1006746 (2017)
   PUBMED   29267382
  REMARK    GeneRIF: we speculate that stably expressed human A3H protects
            humans against the cross-species transmission of zoonotic infection
            of SIV of chimpanzee
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 182)
  AUTHORS   Nakano Y, Misawa N, Juarez-Fernandez G, Moriwaki M, Nakaoka S, Funo
            T, Yamada E, Soper A, Yoshikawa R, Ebrahimi D, Tachiki Y, Iwami S,
            Harris RS, Koyanagi Y and Sato K.
  TITLE     HIV-1 competition experiments in humanized mice show that APOBEC3H
            imposes selective pressure and promotes virus adaptation
  JOURNAL   PLoS Pathog. 13 (5), e1006348 (2017)
   PUBMED   28475648
  REMARK    GeneRIF: Stable variants of APOBEC3H impose selective pressure on
            HIV-1.
            Erratum:[PLoS Pathog. 2017 Sep 7;13(9):e1006606. PMID: 28880964]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 182)
  AUTHORS   Nakashima M, Tsuzuki S, Awazu H, Hamano A, Okada A, Ode H, Maejima
            M, Hachiya A, Yokomaku Y, Watanabe N, Akari H and Iwatani Y.
  TITLE     Mapping Region of Human Restriction Factor APOBEC3H Critical for
            Interaction with HIV-1 Vif
  JOURNAL   J. Mol. Biol. 429 (8), 1262-1276 (2017)
   PUBMED   28336404
  REMARK    GeneRIF: There are 10 APOBEC3H residues required for the HIV-1 Vif
            susceptibility and Vif binding.
REFERENCE   4  (residues 1 to 182)
  AUTHORS   Gu J, Chen Q, Xiao X, Ito F, Wolfe A and Chen XS.
  TITLE     Biochemical Characterization of APOBEC3H Variants: Implications for
            Their HIV-1 Restriction Activity and mC Modification
  JOURNAL   J. Mol. Biol. 428 (23), 4626-4638 (2016)
   PUBMED   27534815
  REMARK    GeneRIF: The deamination activity of these APOBEC3H variants
            correlates well with their reported anti-HIV activity for the
            different haplotypes, suggesting that deaminase activity may be an
            important factor in determining their respective anti-HIV
            activities.
REFERENCE   5  (residues 1 to 182)
  AUTHORS   Desimmie BA, Burdick RC, Izumi T, Doi H, Shao W, Alvord WG, Sato K,
            Koyanagi Y, Jones S, Wilson E, Hill S, Maldarelli F, Hu WS and
            Pathak VK.
  TITLE     APOBEC3 proteins can copackage and comutate HIV-1 genomes
  JOURNAL   Nucleic Acids Res. 44 (16), 7848-7865 (2016)
   PUBMED   27439715
  REMARK    GeneRIF: These results indicate that APOBEC3 proteins can be
            copackaged and can comutate the same genomes, and can cooperate to
            inhibit HIV replication.
REFERENCE   6  (residues 1 to 182)
  AUTHORS   Harari A, Ooms M, Mulder LC and Simon V.
  TITLE     Polymorphisms and splice variants influence the antiretroviral
            activity of human APOBEC3H
  JOURNAL   J. Virol. 83 (1), 295-303 (2009)
   PUBMED   18945781
  REMARK    GeneRIF: the anti-HIV activity of APOBEC3H seems to be regulated by
            a combination of genomic variation and alternative splicing.
REFERENCE   7  (residues 1 to 182)
  AUTHORS   Dang Y, Siew LM, Wang X, Han Y, Lampen R and Zheng YH.
  TITLE     Human cytidine deaminase APOBEC3H restricts HIV-1 replication
  JOURNAL   J. Biol. Chem. 283 (17), 11606-11614 (2008)
   PUBMED   18299330
  REMARK    GeneRIF: A3H inhibits HIV-1 replication potently by a cytidine
            deamination-independent mechanism
REFERENCE   8  (residues 1 to 182)
  AUTHORS   Vartanian JP, Guetard D, Henry M and Wain-Hobson S.
  TITLE     Evidence for editing of human papillomavirus DNA by APOBEC3 in
            benign and precancerous lesions
  JOURNAL   Science 320 (5873), 230-233 (2008)
   PUBMED   18403710
  REMARK    GeneRIF: study provides evidence of editing of human papillomavirus
            1a and 16 DNA by APOBEC3 in plantar warts and precancerous cervix
            biopsies
REFERENCE   9  (residues 1 to 182)
  AUTHORS   OhAinle M, Kerns JA, Malik HS and Emerman M.
  TITLE     Adaptive evolution and antiviral activity of the conserved
            mammalian cytidine deaminase APOBEC3H
  JOURNAL   J. Virol. 80 (8), 3853-3862 (2006)
   PUBMED   16571802
REFERENCE   10 (residues 1 to 182)
  AUTHORS   Wedekind JE, Dance GS, Sowden MP and Smith HC.
  TITLE     Messenger RNA editing in mammals: new members of the APOBEC family
            seeking roles in the family business
  JOURNAL   Trends Genet. 19 (4), 207-216 (2003)
   PUBMED   12683974
  REMARK    Review article
            Erratum:[Trends Genet. 2003 Jul;19(7):369]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU585251.1 and BC069023.1.
            On Jul 31, 2014 this sequence version replaced NP_001159474.1.
            
            Summary: 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].
            
            Transcript Variant: This variant (SV-182) lacks an alternate exon
            and uses an alternate splice site, resulting in an alternate 3'
            coding region and 3' UTR, compared to variant SV-200. The encoded
            isoform (SV-182) has a distinct C-terminus and is shorter than
            isoform SV-200.
            
            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 :: BC069023.1, SRR1163655.209075.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..182
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     Protein         1..182
                     /product="DNA dC->dU-editing enzyme APOBEC-3H isoform
                     SV-182"
                     /note="DNA dC->dU-editing enzyme APOBEC-3H; APOBEC-related
                     protein 10; apolipoprotein B mRNA editing enzyme,
                     catalytic polypeptide-like 3H"
                     /calculated_mol_wt=21400
     Region          27..179
                     /region_name="APOBEC_N"
          
           /db_xref="CDD:311913"
     CDS             1..182
                     /gene="APOBEC3H"
                     /gene_synonym="A3H; ARP-10; ARP10"
                     /coded_by="NM_001166002.2:128..676"
                     /note="isoform SV-182 is encoded by transcript variant
                     SV-182"
                     /db_xref="CCDS:CCDS54531.1"
                     /db_xref="GeneID:164668"
                     /db_xref="HGNC:HGNC:24100"
                     /db_xref="MIM:610976"
ORIGIN      
        1 malltaetfr lqfnnkrrlr rpyyprkall cyqltpqngs tptrgyfenk kkchaeicfi
       61 neiksmglde tqcyqvtcyl twspcsscaw elvdfikahd hlnlgifasr lyyhwckpqq
      121 kglrllcgsq vpvevmgfpe fadcwenfvd hekplsfnpy kmleeldkns raikrrleri
      181 ks
//

Related articles in PubMed

  1. APOBEC3H polymorphisms and susceptibility to HIV-1 infection in an Indian population. Naruse TK, et al. J Hum Genet, 2016 Mar. PMID 26559750
  2. The eQTL-missense polymorphisms of APOBEC3H are associated with lung cancer risk in a Han Chinese population. Zhu M, et al. Sci Rep, 2015 Oct 13. PMID 26459911, Free PMC Article
See all (72) citations in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. Importantly, APOBEC3H appears to use both deaminase-dependent and -independent mechanisms to target reverse transcription and restrict HIV-1 replication.

( Näissä ei nyt  ole vielä mitään suomennoslyhennelmiä) .

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