LOCUS       NM_006020               2597 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens alkB homolog 1, histone H2A dioxygenase (ALKBH1),
            mRNA.
ACCESSION   NM_006020
VERSION     NM_006020.3
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 2597)
  AUTHORS   Guo,C., Liu,Z. and Zhang,H.
  TITLE     DNA 6mA demethylase ALKBH1 regulates DDX18 expression to promote
            proliferation of human head and neck squamous cell carcinoma
  JOURNAL   Cell Oncol (Dordr) 46 (4), 1097-1111 (2023)
   PUBMED   36976498
  REMARK    GeneRIF: DNA 6mA demethylase ALKBH1 regulates DDX18 expression to
            promote proliferation of human head and neck squamous cell
            carcinoma.
REFERENCE   2  (bases 1 to 2597)
  AUTHORS   Li,L., Zhu,C., Xu,Q., Xu,S., Ye,J., Xu,D., Wang,L., Gan,S., Liu,B.
            and Tang,C.
  TITLE     ALKBH1 contributes to renal cell carcinoma progression by reducing
            N6-methyladenine of GPR137
  JOURNAL   Eur J Clin Invest 53 (7), e13986 (2023)
   PUBMED   36920340
  REMARK    GeneRIF: ALKBH1 contributes to renal cell carcinoma progression by
            reducing N6-methyladenine of GPR137.
REFERENCE   3  (bases 1 to 2597)
  AUTHORS   Verhoeff,K., Cuesta-Gomez,N., Albers,P., Pawlick,R.,
            Marfil-Garza,B.A., Jasra,I., Dadheech,N., O'Gorman,D., Kin,T.,
            Halpin,A., West,L.J. and Shapiro,A.M.J.
  TITLE     Evaluating the Potential for ABO-incompatible Islet
            Transplantation: Expression of ABH Antigens on Human Pancreata,
            Isolated Islets, and Embryonic Stem Cell-derived Islets
  JOURNAL   Transplantation 107 (4), e98-e108 (2023)
   PUBMED   36228319
  REMARK    GeneRIF: Evaluating the Potential for ABO-incompatible Islet
            Transplantation: Expression of ABH Antigens on Human Pancreata,
            Isolated Islets, and Embryonic Stem Cell-derived Islets.
REFERENCE   4  (bases 1 to 2597)
  AUTHORS   Wang,X., Wong,C.C., Chen,H., Fu,K., Shi,L., Su,H., Guo,S., Gou,H.,
            Hu,X., Zhang,L., Ji,J. and Yu,J.
  TITLE     The N6-methyladenine DNA demethylase ALKBH1 promotes gastric
            carcinogenesis by disrupting NRF1 binding capacity
  JOURNAL   Cell Rep 42 (3), 112279 (2023)
   PUBMED   36989111
  REMARK    GeneRIF: The N[6]-methyladenine DNA demethylase ALKBH1 promotes
            gastric carcinogenesis by disrupting NRF1 binding capacity.
REFERENCE   5  (bases 1 to 2597)
  AUTHORS   Liu,Y., Chen,Y., Wang,Y., Jiang,S., Lin,W., Wu,Y., Li,Q., Guo,Y.,
            Liu,W. and Yuan,Q.
  TITLE     DNA demethylase ALKBH1 promotes adipogenic differentiation via
            regulation of HIF-1 signaling
  JOURNAL   J Biol Chem 298 (1), 101499 (2022)
   PUBMED   34922943
  REMARK    GeneRIF: DNA demethylase ALKBH1 promotes adipogenic differentiation
            via regulation of HIF-1 signaling.
REFERENCE   6  (bases 1 to 2597)
  AUTHORS   Muller,T.A., Meek,K. and Hausinger,R.P.
  TITLE     Human AlkB homologue 1 (ABH1) exhibits DNA lyase activity at abasic
            sites
  JOURNAL   DNA Repair (Amst) 9 (1), 58-65 (2010)
   PUBMED   19959401
  REMARK    GeneRIF: show that ABH1 unexpectedly has a second activity,
            cleaving DNA at abasic (AP) sites such as those arising
            spontaneously from alkylation-dependent depurination reactions.
REFERENCE   7  (bases 1 to 2597)
  AUTHORS   Westbye,M.P., Feyzi,E., Aas,P.A., Vagbo,C.B., Talstad,V.A.,
            Kavli,B., Hagen,L., Sundheim,O., Akbari,M., Liabakk,N.B.,
            Slupphaug,G., Otterlei,M. and Krokan,H.E.
  TITLE     Human AlkB homolog 1 is a mitochondrial protein that demethylates
            3-methylcytosine in DNA and RNA
  JOURNAL   J Biol Chem 283 (36), 25046-25056 (2008)
   PUBMED   18603530
  REMARK    GeneRIF: hABH1 is a functional mitochondrial AlkB homolog that
            repairs 3-methylcytosine in single-stranded DNA and RNA.
REFERENCE   8  (bases 1 to 2597)
  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
  REMARK    GeneRIF: AlkB homologues, hABH2 and hABH3, also are oxidative DNA
            demethylases; AlkB and hABH3, but not hABH2, also repair RNA
REFERENCE   9  (bases 1 to 2597)
  AUTHORS   Heilig,R., Eckenberg,R., Petit,J.L., Fonknechten,N., Da Silva,C.,
            Cattolico,L., Levy,M., Barbe,V., de Berardinis,V., Ureta-Vidal,A.,
            Pelletier,E., Vico,V., Anthouard,V., Rowen,L., Madan,A., Qin,S.,
            Sun,H., Du,H., Pepin,K., Artiguenave,F., Robert,C., Cruaud,C.,
            Bruls,T., Jaillon,O., Friedlander,L., Samson,G., Brottier,P.,
            Cure,S., Segurens,B., Aniere,F., Samain,S., Crespeau,H., Abbasi,N.,
            Aiach,N., Boscus,D., Dickhoff,R., Dors,M., Dubois,I., Friedman,C.,
            Gouyvenoux,M., James,R., Madan,A., Mairey-Estrada,B., Mangenot,S.,
            Martins,N., Menard,M., Oztas,S., Ratcliffe,A., Shaffer,T.,
            Trask,B., Vacherie,B., Bellemere,C., Belser,C., Besnard-Gonnet,M.,
            Bartol-Mavel,D., Boutard,M., Briez-Silla,S., Combette,S.,
            Dufosse-Laurent,V., Ferron,C., Lechaplais,C., Louesse,C.,
            Muselet,D., Magdelenat,G., Pateau,E., Petit,E.,
            Sirvain-Trukniewicz,P., Trybou,A., Vega-Czarny,N., Bataille,E.,
            Bluet,E., Bordelais,I., Dubois,M., Dumont,C., Guerin,T.,
            Haffray,S., Hammadi,R., Muanga,J., Pellouin,V., Robert,D.,
            Wunderle,E., Gauguet,G., Roy,A., Sainte-Marthe,L., Verdier,J.,
            Verdier-Discala,C., Hillier,L., Fulton,L., McPherson,J.,
            Matsuda,F., Wilson,R., Scarpelli,C., Gyapay,G., Wincker,P.,
            Saurin,W., Quetier,F., Waterston,R., Hood,L. and Weissenbach,J.
  TITLE     The DNA sequence and analysis of human chromosome 14
  JOURNAL   Nature 421 (6923), 601-607 (2003)
   PUBMED   12508121
  REMARK    Erratum:[Nature. 2023 Aug;620(7973):E17. doi:
            10.1038/s41586-023-06403-y.. PMID: 37491470]
REFERENCE   10 (bases 1 to 2597)
  AUTHORS   Wei,Y.F., Carter,K.C., Wang,R.P. and Shell,B.K.
  TITLE     Molecular cloning and functional analysis of a human cDNA encoding
            an Escherichia coli AlkB homolog, a protein involved in DNA
            alkylation damage repair
  JOURNAL   Nucleic Acids Res 24 (5), 931-937 (1996)
   PUBMED   8600462
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008044.4, BC025787.1 and
            BC015024.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006020.2.
            
            Summary: This gene encodes a homolog to the E. coli alkB gene
            product. The E. coli alkB protein is part of the adaptive response
            mechanism of DNA alkylation damage repair. It is involved in damage
            reversal by oxidative demethylation of 1-methyladenine and
            3-methylcytosine. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803616.180648.1,
                                           SRR1660805.27277.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144, SAMN03267755
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216489.8/ ENSP00000216489.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AC008044.4         100178-100187       c
            11-1180             BC025787.1         1-1170
            1181-1954           BC015024.1         1136-1909
            1955-2595           AC008044.4         64570-65210         c
            2596-2597           AC008044.4         64568-64569         c
FEATURES             Location/Qualifiers
     source          1..2597
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..2597
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
                     /note="alkB homolog 1, histone H2A dioxygenase"
                     /db_xref="GeneID:8846"
                     /db_xref="HGNC:HGNC:17911"
                     /db_xref="MIM:605345"
     exon            1..202
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1189
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
                     /EC_number="4.2.99.18"
                     /EC_number="1.14.11.33"
                     /EC_number="1.14.11.51"
                     /note="alkylated DNA repair protein alkB homolog 1;
                     alkylation repair, alkB homolog; DNA lyase ABH1;
                     alpha-ketoglutarate-dependent dioxygenase ABH1; DNA
                     oxidative demethylase ALKBH1; alkB, alkylation repair
                     homolog 1; DNA 6mA demethylase; DNA demethylase ALKBH1;
                     tRNA N1-methyl adenine demethylase; mRNA
                     N(3)-methylcytidine demethylase; DNA N6-methyl adenine
                     demethylase ALKBH1"
                     /codon_start=1
                     /product="nucleic acid dioxygenase ALKBH1"
                     /protein_id="NP_006011.2"
                     /db_xref="CCDS:CCDS32127.1"
                     /db_xref="GeneID:8846"
                     /db_xref="HGNC:HGNC:17911"
                     /db_xref="MIM:605345"
                     /translation="MGKMAAAVGSVATLATEPGEDAFRKLFRFYRQSRPGTADLEGVI
                     DFSAAHAARGKGPGAQKVIKSQLNVSSVSEQNAYRAGLQPVSKWQAYGLKGYPGFIFI
                     PNPFLPGYQWHWVKQCLKLYSQKPNVCNLDKHMSKEETQDLWEQSKEFLRYKEATKRR
                     PRSLLEKLRWVTVGYHYNWDSKKYSADHYTPFPSDLGFLSEQVAAACGFEDFRAEAGI
                     LNYYRLDSTLGIHVDRSELDHSKPLLSFSFGQSAIFLLGGLQRDEAPTAMFMHSGDIM
                     IMSGFSRLLNHAVPRVLPNPEGEGLPHCLEAPLPAVLPRDSMVEPCSMEDWQVCASYL
                     KTARVNMTVRQVLATDQNFPLEPIEDEKRDISTEGFCHLDDQNSEVKRARINPDS"
     exon            203..311
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
                     /inference="alignment:Splign:2.1.0"
     exon            312..474
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
                     /inference="alignment:Splign:2.1.0"
     exon            475..565
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
                     /inference="alignment:Splign:2.1.0"
     exon            566..759
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
                     /inference="alignment:Splign:2.1.0"
     exon            760..2597
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1931..1936
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
                     /note="hexamer: AATAAA"
     polyA_site      1957
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
                     /note="major polyA site"
     regulatory      2572..2577
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
                     /note="hexamer: AATAAA"
     polyA_site      2597
                     /gene="ALKBH1"
                     /gene_synonym="ABH; ABH1; alkB; ALKBH; hABH"
ORIGIN      
        1 agagggtata ggccgcgaga tggggaagat ggcagcggcc gtgggctctg tggcgactct
       61 ggcgactgag cccggggagg acgcctttcg gaaacttttc cgcttctacc gtcagagccg
      121 gcccgggacc gcagacctgg aaggggtcat cgacttctcg gcggcccacg cagcccgtgg
      181 caagggtcct ggtgcccaaa aggtgatcaa atctcagcta aatgtgtctt ctgtcagtga
      241 gcagaatgca tatagagcag gtcttcagcc cgtcagcaag tggcaagcct atggactcaa
      301 aggctatcct gggtttattt ttatcccaaa ccccttcctc ccaggttacc agtggcactg
      361 ggtgaaacag tgccttaagt tatattccca gaaacctaat gtatgtaacc tggacaaaca
      421 catgtctaaa gaagagaccc aagatctgtg ggaacagagc aaagagttcc tgaggtataa
      481 agaagcgact aaacggagac cccgaagttt actggagaaa ctgcgttggg tgaccgtagg
      541 ctaccattat aactgggaca gtaagaaata ctcagcagat cattacacac ctttcccttc
      601 tgacctgggt ttcctctcag agcaagtagc cgctgcctgt ggatttgagg atttccgagc
      661 tgaagcaggg atcctgaatt actaccgcct ggactccaca ctgggaatcc acgtagacag
      721 atctgagcta gatcactcca aacccttgct gtcattcagc tttggacagt ccgccatctt
      781 tctcctgggt ggtcttcaaa gggatgaggc ccccacggcc atgtttatgc acagtggtga
      841 catcatgata atgtcgggtt tcagccgcct cttgaaccac gcagtccctc gtgtccttcc
      901 aaatccagaa ggggaaggcc tgcctcactg cctagaggca cctctccctg ctgtcctccc
      961 gagagattca atggtagagc cttgttctat ggaggactgg caggtgtgtg ccagctactt
     1021 gaagaccgct cgtgttaaca tgactgtccg acaggtcctg gccacagacc agaatttccc
     1081 tctagaaccc atcgaggatg aaaaaagaga catcagtaca gaaggtttct gccatctgga
     1141 tgaccagaat agcgaagtaa aacgggccag gataaaccct gacagctgag acttggagat
     1201 cccatccttt ttactcaggc acctgcttac cgtaaatgat catgttattg tgtattgccg
     1261 tggacttcag cacccagaca agccaaaaac agagacaggg aagaactcat tgttgatcac
     1321 actgttgcct tggaacccac gcagaagtaa actcagccac tttgctcaga gaagtgtttg
     1381 acatggtctg ttcctagtta catgttggct gtaatgtatg ttgagaagtc agtccaagga
     1441 ggtatgttct tccacaacag ccttctcagc ctctgctatt tcctttgagg aaggtagaag
     1501 tgagtttcca tgtttgcaga gtatttaaat acctcagatt ttattaatga gaaatacagt
     1561 acccctccct ccactccatc tggtaattta tggtaaaatt gtggttctgt gaaccagcta
     1621 ttagtctcat cttcttaact ccctcaggca tcatcaaatt ctttgatctt ctcttccacc
     1681 tctctggctc tcatggaaga atcctttaca catgaaaaca atggaactgg aaaatcttgt
     1741 cttttagaaa agaaattaat cacaactatc tctcttgcct aaaagataaa tataggtaaa
     1801 cccaaggaaa ggggaattta gtttctctac atgtcatttc ggtctccaaa ctccctgttg
     1861 gctttttaat gcaattttaa ttgttggaat aaaaaagtcc caagggtgtt ttgttactgt
     1921 tttctccatg aataaactca cttgatttta aattaaagat ctatatctgt ctttggggtt
     1981 tagtctatct gggattaagg tttttttttc tgtttttctt tgctgtattg ttcatgctat
     2041 tgaagccctc tagctgtttc tgccctacac cattctgctg tgccctaagt attctttgtg
     2101 gctgtctcac agaagagaga acatttctta atattccagt cactgctgtt attgtctgag
     2161 ggtaggcagc ttggaaaaat gtaggcaaca ccaagtttta atctttatac ccccaacaat
     2221 ttgactgact atatcatggt ccaggttact ttacatttct ctggacctcg gtttcctcat
     2281 cataaaatga agatactgta gactaccatc ttcctaaagg gatattggta tttgaaagag
     2341 aattaagtgc tcctttctac aaacatgatg tgccaaaatt gttttattat aagggctctt
     2401 tgaaacatcc taacttcctt gtgtggagga ctggctggaa gcccatttgg tacctactgt
     2461 ttgcaatgca tgttattaag tttacatgtc tcctctgtcc tgctctgccc cttttttaaa
     2521 ttactggcat tgaatattga gttcatatgg taatagcagg gtttttaaat gaataaaaat
     2581 tatggattta tctctta
//
