LOCUS       NM_001145374            1180 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens alkB homolog 2, alpha-ketoglutarate dependent
            dioxygenase (ALKBH2), transcript variant 1, mRNA.
ACCESSION   NM_001145374
VERSION     NM_001145374.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1180)
  AUTHORS   Davletgildeeva,A.T., Tyugashev,T.E., Zhao,M., Kuznetsov,N.A.,
            Ishchenko,A.A., Saparbaev,M. and Kuznetsova,A.A.
  TITLE     Individual Contributions of Amido Acid Residues Tyr122, Ile168, and
            Asp173 to the Activity and Substrate Specificity of Human DNA
            Dioxygenase ABH2
  JOURNAL   Cells 12 (14), 1839 (2023)
   PUBMED   37508504
  REMARK    GeneRIF: Individual Contributions of Amido Acid Residues Tyr122,
            Ile168, and Asp173 to the Activity and Substrate Specificity of
            Human DNA Dioxygenase ABH2.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1180)
  AUTHORS   Kanazhevskaya,L.Y., Smyshliaev,D.A., Timofeyeva,N.A.,
            Ishchenko,A.A., Saparbaev,M., Kuznetsov,N.A. and Fedorova,O.S.
  TITLE     Conformational Dynamics of Human ALKBH2 Dioxygenase in the Course
            of DNA Repair as Revealed by Stopped-Flow Fluorescence Spectroscopy
  JOURNAL   Molecules 27 (15), 4960 (2022)
   PUBMED   35956910
  REMARK    GeneRIF: Conformational Dynamics of Human ALKBH2 Dioxygenase in the
            Course of DNA Repair as Revealed by Stopped-Flow Fluorescence
            Spectroscopy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1180)
  AUTHORS   Ke,B., Ye,K. and Cheng,S.
  TITLE     ALKBH2 inhibition alleviates malignancy in colorectal cancer by
            regulating BMI1-mediated activation of NF-kappaB pathway
  JOURNAL   World J Surg Oncol 18 (1), 328 (2020)
   PUBMED   33302959
  REMARK    GeneRIF: ALKBH2 inhibition alleviates malignancy in colorectal
            cancer by regulating BMI1-mediated activation of NF-kappaB pathway.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1180)
  AUTHORS   Lenz,S.A.P., Li,D. and Wetmore,S.D.
  TITLE     Insights into the Direct Oxidative Repair of Etheno Lesions: MD and
            QM/MM Study on the Substrate Scope of ALKBH2 and AlkB
  JOURNAL   DNA Repair (Amst) 96, 102944 (2020)
   PUBMED   33161373
  REMARK    GeneRIF: Insights into the Direct Oxidative Repair of Etheno
            Lesions: MD and QM/MM Study on the Substrate Scope of ALKBH2 and
            AlkB.
REFERENCE   5  (bases 1 to 1180)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1180)
  AUTHORS   Yang,C.G., Yi,C., Duguid,E.M., Sullivan,C.T., Jian,X., Rice,P.A.
            and He,C.
  TITLE     Crystal structures of DNA/RNA repair enzymes AlkB and ABH2 bound to
            dsDNA
  JOURNAL   Nature 452 (7190), 961-965 (2008)
   PUBMED   18432238
  REMARK    GeneRIF: first crystal structure of ABH2
REFERENCE   7  (bases 1 to 1180)
  AUTHORS   Bethke,L., Murray,A., Webb,E., Schoemaker,M., Muir,K., McKinney,P.,
            Hepworth,S., Dimitropoulou,P., Lophatananon,A., Feychting,M.,
            Lonn,S., Ahlbom,A., Malmer,B., Henriksson,R., Auvinen,A., Kiuru,A.,
            Salminen,T., Johansen,C., Christensen,H.C., Kosteljanetz,M.,
            Swerdlow,A. and Houlston,R.
  TITLE     Comprehensive analysis of DNA repair gene variants and risk of
            meningioma
  JOURNAL   J Natl Cancer Inst 100 (4), 270-276 (2008)
   PUBMED   18270339
  REMARK    GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 1180)
  AUTHORS   Lee,D.H., Jin,S.G., Cai,S., Chen,Y., Pfeifer,G.P. and O'Connor,T.R.
  TITLE     Repair of methylation damage in DNA and RNA by mammalian AlkB
            homologues
  JOURNAL   J Biol Chem 280 (47), 39448-39459 (2005)
   PUBMED   16174769
REFERENCE   9  (bases 1 to 1180)
  AUTHORS   Aas,P.A., Otterlei,M., Falnes,P.O., Vagbo,C.B., Skorpen,F.,
            Akbari,M., Sundheim,O., Bjoras,M., Slupphaug,G., Seeberg,E. and
            Krokan,H.E.
  TITLE     Human and bacterial oxidative demethylases repair alkylation damage
            in both RNA and DNA
  JOURNAL   Nature 421 (6925), 859-863 (2003)
   PUBMED   12594517
REFERENCE   10 (bases 1 to 1180)
  AUTHORS   Duncan,T., Trewick,S.C., Koivisto,P., Bates,P.A., Lindahl,T. and
            Sedgwick,B.
  TITLE     Reversal of DNA alkylation damage by two human dioxygenases
  JOURNAL   Proc Natl Acad Sci U S A 99 (26), 16660-16665 (2002)
   PUBMED   12486230
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA182735.1, BM820131.1, AC011596.27 and AI278638.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001145374.1.
            
            Summary: The Escherichia coli AlkB protein protects against the
            cytotoxicity of methylating agents by repair of the specific DNA
            lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM
            610603) are E. coli AlkB homologs that catalyze the removal of
            1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed
            12486230]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1-3 encode the same protein.
            
            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 :: SRR1163657.570673.1,
                                           SRR1660803.6962.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000429722.3/ ENSP00000398181.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DA182735.1         160-173
            15-233              BM820131.1         9-227
            234-657             AC011596.27        99821-100244        c
            658-856             AC011596.27        97323-97521         c
            857-1172            AC011596.27        95511-95826         c
            1173-1180           AI278638.1         11-18               c
FEATURES             Location/Qualifiers
     source          1..1180
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.11"
     gene            1..1180
                     /gene="ALKBH2"
                     /gene_synonym="ABH2"
                     /note="alkB homolog 2, alpha-ketoglutarate dependent
                     dioxygenase"
                     /db_xref="GeneID:121642"
                     /db_xref="HGNC:HGNC:32487"
                     /db_xref="MIM:610602"
     exon            1..226
                     /gene="ALKBH2"
                     /gene_synonym="ABH2"
                     /inference="alignment:Splign:2.1.0"
     exon            227..657
                     /gene="ALKBH2"
                     /gene_synonym="ABH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             378..1163
                     /gene="ALKBH2"
                     /gene_synonym="ABH2"
                     /EC_number="1.14.11.33"
                     /note="isoform 1 is encoded by transcript variant 1;
                     alpha-ketoglutarate-dependent dioxygenase alkB homolog 2;
                     alkylated DNA repair protein alkB homolog 2; 2OG-Fe(II)
                     oxy DC1; DNA oxidative demethylase ALKBH2; alkB,
                     alkylation repair homolog 2"
                     /codon_start=1
                     /product="DNA oxidative demethylase ALKBH2 isoform 1"
                     /protein_id="NP_001138846.1"
                     /db_xref="CCDS:CCDS31897.1"
                     /db_xref="GeneID:121642"
                     /db_xref="HGNC:HGNC:32487"
                     /db_xref="MIM:610602"
                     /translation="MDRFLVKGAQGGLLRKQEEQEPTGEEPAVLGGDKESTRKRPRRE
                     APGNGGHSAGPSWRHIRAEGLDCSYTVLFGKAEADEIFQELEKEVEYFTGALARVQVF
                     GKWHSVPRKQATYGDAGLTYTFSGLTLSPKPWIPVLERIRDHVSGVTGQTFNFVLINR
                     YKDGCDHIGEHRDDERELAPGSPIASVSFGACRDFVFRHKDSRGKSPSRRVAVVRLPL
                     AHGSLLMMNHPTNTHWYHSLPVRKKVLAPRVNLTFRKILLTKK"
     exon            658..856
                     /gene="ALKBH2"
                     /gene_synonym="ABH2"
                     /inference="alignment:Splign:2.1.0"
     exon            857..1180
                     /gene="ALKBH2"
                     /gene_synonym="ABH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1159..1164
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALKBH2"
                     /gene_synonym="ABH2"
                     /note="hexamer: AATAAA"
     polyA_site      1180
                     /gene="ALKBH2"
                     /gene_synonym="ABH2"
                     /note="major polyA site"
ORIGIN      
        1 gtctttccca ccacgaggcc accagggtga ctgcgggatt ccgatctgcg ccggagctgc
       61 gatgctagag cactcttgcc acccccaccc cacggacgtg ttgcagtgat atcagaattt
      121 tgcgtgcggt ttacccgtgt ttaacctctt tgcgtctcgc ttctgaatcg tatccacttg
      181 agcatcacta gactgatcta ttttaacact ggtggggggc agcgaggaca tggttttaaa
      241 ctttaaaatg aaaatgtgaa actaggaatg ttgctgtgag accccttgga caaacagatt
      301 tttgcactgg ggatagaact tgagcaattt ctgtcttggc ctcgccactg acgtcccttc
      361 tttcctgtgg ggacaggatg gacagattcc tggtgaaagg ggctcaaggg ggccttttga
      421 ggaagcagga ggagcaagag ccaactggag aagagccagc tgtgttggga ggagacaaag
      481 aaagcacaag gaagaggccc aggagagagg ccccagggaa tggaggccac tcagcaggcc
      541 ctagctggcg gcacattcgg gctgagggcc tggactgcag ttacacagtc ctgtttggca
      601 aagctgaggc agatgagatt ttccaagagt tggagaaaga agtagaatat tttacaggag
      661 cactggccag agtccaggta ttcgggaagt ggcacagtgt gcccaggaag caggcaacgt
      721 atggcgacgc tgggctgacc tacacatttt caggcctcac gctgtctcca aagccctgga
      781 tcccagttct agagcgcatc cgggatcacg tctctggggt gactggacag accttcaact
      841 ttgtgctcat caacaggtat aaagatggct gtgaccacat cggggagcac cgagatgatg
      901 aaagagaact ggcccctggg agccccattg cctctgtctc cttcggtgcc tgcagagact
      961 ttgtcttccg gcataaggat tcccgtggga aaagcccctc caggagggtg gcggtggtca
     1021 ggctgccgct ggcccacggg agcttactaa tgatgaacca cccgaccaac acgcactggt
     1081 accacagtct tcccgtgaga aagaaggttc tggctccacg ggtgaatctg acttttcgta
     1141 aaattttgct tactaaaaaa taaaaacatt tttaacagtt
//
