LOCUS       NM_000188               3602 bp    mRNA    linear   PRI 06-NOV-2024
DEFINITION  Homo sapiens hexokinase 1 (HK1), transcript variant 1, mRNA.
ACCESSION   NM_000188
VERSION     NM_000188.3
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 3602)
  AUTHORS   Sun,Y., Zhang,C., Ma,Q., Yu,X., Gao,X., Zhang,H., Shi,Y., Li,Y. and
            He,X.
  TITLE     MiR-34a-HK1 signal axis retards bone marrow mesenchymal stem cell
            senescence via ameliorating glycolytic metabolism
  JOURNAL   Stem Cell Res Ther 15 (1), 238 (2024)
   PUBMED   39080798
  REMARK    GeneRIF: MiR-34a-HK1 signal axis retards bone marrow mesenchymal
            stem cell senescence via ameliorating glycolytic metabolism.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3602)
  AUTHORS   Rabbani,N. and Thornalley,P.J.
  TITLE     Hexokinase-linked glycolytic overload and unscheduled glycolysis in
            hyperglycemia-induced pathogenesis of insulin resistance, beta-cell
            glucotoxicity, and diabetic vascular complications
  JOURNAL   Front Endocrinol (Lausanne) 14, 1268308 (2024)
   PUBMED   38292764
  REMARK    GeneRIF: Hexokinase-linked glycolytic overload and unscheduled
            glycolysis in hyperglycemia-induced pathogenesis of insulin
            resistance, beta-cell glucotoxicity, and diabetic vascular
            complications.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3602)
  AUTHORS   Goleyjani Moghadam,M., Elahi,Z., Soveyzi,M., Arzhangi,S.,
            Nafissi,S., Najmabadi,H., Kahrizi,K. and Fattahi,Z.
  TITLE     Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth
            Disease, Type 4G; the First Report in Iran
  JOURNAL   Arch Iran Med 26 (5), 279-284 (2023)
   PUBMED   38301092
  REMARK    GeneRIF: Expanding the Molecular Spectrum of HK1-Related
            Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3602)
  AUTHORS   Andreoni,F., Ruzzo,A. and Magnani,M.
  TITLE     Structure of the 5' region of the human hexokinase type I (HKI)
            gene and identification of an additional testis-specific HKI mRNA
  JOURNAL   Biochim Biophys Acta 1493 (1-2), 19-26 (2000)
   PUBMED   10978502
REFERENCE   5  (bases 1 to 3602)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 4 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301641
REFERENCE   6  (bases 1 to 3602)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   7  (bases 1 to 3602)
  AUTHORS   Gillis,D.
  TITLE     Nonsyndromic Genetic Hyperinsulinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301549
REFERENCE   8  (bases 1 to 3602)
  AUTHORS   Magnani,M., Bianchi,M., Casabianca,A., Stocchi,V., Daniele,A.,
            Altruda,F., Ferrone,M. and Silengo,L.
  TITLE     A recombinant human 'mini'-hexokinase is catalytically active and
            regulated by hexose 6-phosphates
  JOURNAL   Biochem J 285 (Pt 1) (Pt 1), 193-199 (1992)
   PUBMED   1637300
REFERENCE   9  (bases 1 to 3602)
  AUTHORS   Daniele,A., Altruda,F., Ferrone,M., Silengo,L., Romeo,G.,
            Archidiacono,N. and Rocchi,M.
  TITLE     Mapping of human hexokinase 1 gene to 10q11----qter
  JOURNAL   Hum Hered 42 (2), 107-110 (1992)
   PUBMED   1572668
REFERENCE   10 (bases 1 to 3602)
  AUTHORS   Magnani,M., Serafini,G., Bianchi,M., Casabianca,A. and Stocchi,V.
  TITLE     Human hexokinase type I microheterogeneity is due to different
            amino-terminal sequences
  JOURNAL   J Biol Chem 266 (1), 502-505 (1991)
   PUBMED   1985912
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292012.1, AB209526.1,
            AK128226.1 and BC008730.2.
            
            On Mar 20, 2020 this sequence version replaced NM_000188.2.
            
            Summary: Hexokinases phosphorylate glucose to produce
            glucose-6-phosphate, the first step in most glucose metabolism
            pathways. This gene encodes a ubiquitous form of hexokinase which
            localizes to the outer membrane of mitochondria. Mutations in this
            gene have been associated with hemolytic anemia due to hexokinase
            deficiency. Alternative splicing of this gene results in several
            transcript variants which encode different isoforms, some of which
            are tissue-specific. [provided by RefSeq, Apr 2016].
            
            Transcript Variant: This variant (1), HKI, encodes the ubiquitously
            expressed isoform. Its 5' end includes an exon which is unique to
            this transcript and which encodes a distinct N-terminus that
            contains the porin binding domain (PBD). The porin binding domain
            mediates association with the mitochondrial membrane.
            
            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 :: BC008730.2, AK292012.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000359426.7/
                                                  ENSP00000352398.6
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-178               AK292012.1         1-178
            179-1543            AB209526.1         175-1539
            1544-2103           AK128226.1         1937-2496
            2104-3602           BC008730.2         2059-3557
FEATURES             Location/Qualifiers
     source          1..3602
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..3602
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="hexokinase 1"
                     /db_xref="GeneID:3098"
                     /db_xref="HGNC:HGNC:4922"
                     /db_xref="MIM:142600"
     exon            1..164
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..2855
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /EC_number="2.7.1.1"
                     /note="isoform HKI is encoded by transcript variant 1;
                     brain form hexokinase; glycolytic enzyme; hexokinase type
                     I; hexokinase IR; hexokinase-A; Neuropathy, hereditary
                     motor and sensory, Russe type"
                     /codon_start=1
                     /product="hexokinase-1 isoform HKI"
                     /protein_id="NP_000179.2"
                     /db_xref="CCDS:CCDS7292.1"
                     /db_xref="GeneID:3098"
                     /db_xref="HGNC:HGNC:4922"
                     /db_xref="MIM:142600"
                     /translation="MIAAQLLAYYFTELKDDQVKKIDKYLYAMRLSDETLIDIMTRFR
                     KEMKNGLSRDFNPTATVKMLPTFVRSIPDGSEKGDFIALDLGGSSFRILRVQVNHEKN
                     QNVHMESEVYDTPENIVHGSGSQLFDHVAECLGDFMEKRKIKDKKLPVGFTFSFPCQQ
                     SKIDEAILITWTKRFKASGVEGADVVKLLNKAIKKRGDYDANIVAVVNDTVGTMMTCG
                     YDDQHCEVGLIIGTGTNACYMEELRHIDLVEGDEGRMCINTEWGAFGDDGSLEDIRTE
                     FDREIDRGSLNPGKQLFEKMVSGMYLGELVRLILVKMAKEGLLFEGRITPELLTRGKF
                     NTSDVSAIEKNKEGLHNAKEILTRLGVEPSDDDCVSVQHVCTIVSFRSANLVAATLGA
                     ILNRLRDNKGTPRLRTTVGVDGSLYKTHPQYSRRFHKTLRRLVPDSDVRFLLSESGSG
                     KGAAMVTAVAYRLAEQHRQIEETLAHFHLTKDMLLEVKKRMRAEMELGLRKQTHNNAV
                     VKMLPSFVRRTPDGTENGDFLALDLGGTNFRVLLVKIRSGKKRTVEMHNKIYAIPIEI
                     MQGTGEELFDHIVSCISDFLDYMGIKGPRMPLGFTFSFPCQQTSLDAGILITWTKGFK
                     ATDCVGHDVVTLLRDAIKRREEFDLDVVAVVNDTVGTMMTCAYEEPTCEVGLIVGTGS
                     NACYMEEMKNVEMVEGDQGQMCINMEWGAFGDNGCLDDIRTHYDRLVDEYSLNAGKQR
                     YEKMISGMYLGEIVRNILIDFTKKGFLFRGQISETLKTRGIFETKFLSQIESDRLALL
                     QVRAILQQLGLNSTCDDSILVKTVCGVVSRRAAQLCGAGMAAVVDKIRENRGLDRLNV
                     TVGVDGTLYKLHPHFSRIMHQTVKELSPKCNVSFLLSEDGSGKGAALITAVGVRLRTE
                     ASS"
     exon            165..327
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            328..476
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            477..596
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            597..692
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            693..792
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            793..976
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1132
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..1366
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            1367..1671
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            1672..1820
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            1821..1940
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            1941..2036
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            2037..2136
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            2137..2320
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            2321..2476
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            2477..2710
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     exon            2711..3602
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3580..3585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="hexamer: AGTAAA"
     polyA_site      3602
                     /gene="HK1"
                     /gene_synonym="CNSHA5; hexokinase; HK; HK1-ta; HK1-tb;
                     HK1-tc; HKD; HKI; HMSNR; HXK1; NEDVIBA; NMSR; RP79"
                     /note="major polyA site"
ORIGIN      
        1 gaggaggagc cgccgagcag ccgccggagg accacggctc gccagggctg cggaggaccg
       61 accgtcccca cgcctgccgc cccgcgaccc cgaccgccag catgatcgcc gcgcagctcc
      121 tggcctatta cttcacggag ctgaaggatg accaggtcaa aaagattgac aagtatctct
      181 atgccatgcg gctctccgat gaaactctca tagatatcat gactcgcttc aggaaggaga
      241 tgaagaatgg cctctcccgg gattttaatc caacagccac agtcaagatg ttgccaacat
      301 tcgtaaggtc cattcctgat ggctctgaaa agggagattt cattgccctg gatcttggtg
      361 ggtcttcctt tcgaattctg cgggtgcaag tgaatcatga gaaaaaccag aatgttcaca
      421 tggagtccga ggtttatgac accccagaga acatcgtgca cggcagtgga agccagcttt
      481 ttgatcatgt tgctgagtgc ctgggagatt tcatggagaa aaggaagatc aaggacaaga
      541 agttacctgt gggattcacg ttttcttttc cttgccaaca atccaaaata gatgaggcca
      601 tcctgatcac ctggacaaag cgatttaaag cgagcggagt ggaaggagca gatgtggtca
      661 aactgcttaa caaagccatc aaaaagcgag gggactatga tgccaacatc gtagctgtgg
      721 tgaatgacac agtgggcacc atgatgacct gtggctatga cgaccagcac tgtgaagtcg
      781 gcctgatcat cggcactggc accaatgctt gctacatgga ggaactgagg cacattgatc
      841 tggtggaagg agacgagggg aggatgtgta tcaatacaga atggggagcc tttggagacg
      901 atggatcatt agaagacatc cggacagagt ttgacaggga gatagaccgg ggatccctca
      961 accctggaaa acagctgttt gagaagatgg tcagtggcat gtacttggga gagctggttc
     1021 gactgatcct agtcaagatg gccaaggagg gcctcttatt tgaagggcgg atcaccccgg
     1081 agctgctcac ccgagggaag tttaacacca gtgatgtgtc agccatcgaa aagaataagg
     1141 aaggcctcca caatgccaaa gaaatcctga cccgcctggg agtggagccg tccgatgatg
     1201 actgtgtctc agtccagcac gtttgcacca ttgtctcatt tcgctcagcc aacttggtgg
     1261 ctgccacact gggcgccatc ttgaaccgcc tgcgtgataa caagggcaca cccaggctgc
     1321 ggaccacggt tggtgtcgac ggatctcttt acaagacgca cccacagtat tcccggcgtt
     1381 tccacaagac tctaaggcgc ttggtgccag actccgatgt gcgcttcctc ctctcggaga
     1441 gtggcagcgg caagggggct gccatggtga cggcggtggc ctaccgcttg gccgagcagc
     1501 accggcagat agaggagacc ctggctcatt tccacctcac caaggacatg ctgctggagg
     1561 tgaagaagag gatgcgggcc gagatggagc tggggctgag gaagcagacg cacaacaatg
     1621 ccgtggttaa gatgctgccc tccttcgtcc ggagaactcc cgacgggacc gagaatggtg
     1681 acttcttggc cctggatctt ggaggaacca atttccgtgt gctgctggtg aaaatccgta
     1741 gtgggaaaaa gagaacggtg gaaatgcaca acaagatcta cgccattcct attgaaatca
     1801 tgcagggcac tggggaagag ctgtttgatc acattgtctc ctgcatctct gacttcttgg
     1861 actacatggg gatcaaaggc cccaggatgc ctctgggctt cacgttctca tttccctgcc
     1921 agcagacgag tctggacgcg ggaatcttga tcacgtggac aaagggtttt aaggcaacag
     1981 actgcgtggg ccacgatgta gtcaccttac taagggatgc gataaaaagg agagaggaat
     2041 ttgacctgga cgtggtggct gtggtcaacg acacagtggg caccatgatg acctgtgctt
     2101 atgaggagcc cacctgtgag gttggactca ttgttgggac cggcagcaat gcctgctaca
     2161 tggaggagat gaagaacgtg gagatggtgg agggggacca ggggcagatg tgcatcaaca
     2221 tggagtgggg ggcctttggg gacaacgggt gtctggatga tatcaggaca cactacgaca
     2281 gactggtgga cgaatattcc ctaaatgctg ggaaacaaag gtatgagaag atgatcagtg
     2341 gtatgtacct gggtgaaatc gtccgcaaca tcttaatcga cttcaccaag aagggattcc
     2401 tcttccgagg gcagatctct gagacgctga agacccgggg catctttgag accaagtttc
     2461 tctctcagat cgagagtgac cgattagcac tgctccaggt ccgggctatc ctccagcagc
     2521 taggtctgaa tagcacctgc gatgacagta tcctcgtcaa gacagtgtgc ggggtggtgt
     2581 ccaggagggc cgcacagctg tgtggcgcag gcatggctgc ggttgtggat aagatccgcg
     2641 agaacagagg actggaccgt ctgaatgtga ctgtgggagt ggacgggaca ctctacaagc
     2701 ttcatccaca cttctccaga atcatgcacc agacggtgaa ggaactgtca ccaaaatgta
     2761 acgtgtcctt cctcctgtct gaggatggca gcggcaaggg ggccgccctc atcacggccg
     2821 tgggcgtgcg gttacgcaca gaggcaagca gctaagagtc cgggatcccc agcctactgc
     2881 ctctccagca cttctctctt caagcggcga ccccctaccc tcccagcgag ttgcgctggg
     2941 agacgctggc gccagggcct gccggcgcgg ggaggaaagc aaaatccaac taatggtata
     3001 tattgtaggg tacagaatag agcgtgtgct gttgataata tctctcaccc ggatccctcc
     3061 tcacttgccc tgccactttg catggtttga ttttgacctg gtcccccacg tgtgaagtgt
     3121 agtggcatcc atttctaatg tatgcattca tccaacagag ttatttattg gctggagatg
     3181 gaaaatcaca ccacctgaca ggccttctgg gcctccaaag cccatccttg gggttccccc
     3241 tccctgtgtg aaatgtatta tcaccagcag acactgccgg gcctccctcc cgggggcact
     3301 gcctgaaggc gagtgtgggc atagcattag ctgcttcctc ccctcctggc acccactgtg
     3361 gcctggcatc gcatcgtggt gtgtcaatgc cacaaaatcg tgtgtccgtg gaaccagtcc
     3421 tagccgcgtg tgacagtctt gcattctgtt tgtctcgtgg ggggaggtgg acagtcctgc
     3481 ggaaatgtgt cttgtctcca tttggataaa aggaaccaac caacaaacaa tgccatcact
     3541 ggaatttccc accgctttgt gagccgtgtc gtatgaccta gtaaactttg taccaattca
     3601 aa
//
