LOCUS       NM_018291               1873 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens FGGY carbohydrate kinase domain containing (FGGY),
            transcript variant 2, mRNA.
ACCESSION   NM_018291
VERSION     NM_018291.5
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 1873)
  AUTHORS   Zhang,R., Zhang,F., Sun,Z., Liu,P., Zhang,X., Ye,Y., Cai,B.,
            Walsh,M.J., Ren,X., Hao,X., Zhang,W. and Yu,J.
  TITLE     LINE-1 Retrotransposition Promotes the Development and Progression
            of Lung Squamous Cell Carcinoma by Disrupting the Tumor-Suppressor
            Gene FGGY
  JOURNAL   Cancer Res 79 (17), 4453-4465 (2019)
   PUBMED   31289132
  REMARK    GeneRIF: LINE-1-FGGY expression corresponded with smoke-induced
            LINE-1 promoter hypomethylation, lipid metabolism dysregulation,
            and immune microenvironment alteration in the lung squamous cell
            carcinoma.
REFERENCE   2  (bases 1 to 1873)
  AUTHORS   Singh,C., Glaab,E. and Linster,C.L.
  TITLE     Molecular Identification of d-Ribulokinase in Budding Yeast and
            Mammals
  JOURNAL   J Biol Chem 292 (3), 1005-1028 (2017)
   PUBMED   27909055
  REMARK    GeneRIF: S. cerevisiae Ydr109c and human FGGY could act as
            metabolite repair enzymes, serving to re-phosphorylate free
            d-ribulose generated by promiscuous phosphatases from d-ribulose
            5-phosphate. In human cells, FGGY can additionally participate in
            ribitol metabolism.
REFERENCE   3  (bases 1 to 1873)
  AUTHORS   Cai,B., Tang,L., Zhang,N. and Fan,D.
  TITLE     Single-nucleotide polymorphism rs6690993 in FGGY is not associated
            with amyotrophic lateral sclerosisin a large Chinese cohort
  JOURNAL   Neurobiol Aging 35 (6), 1512 (2014)
   PUBMED   24439956
  REMARK    GeneRIF: Single-nucleotide polymorphism in FGGY is not associated
            with amyotrophic lateral sclerosis in a large Chinese cohort.
REFERENCE   4  (bases 1 to 1873)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (bases 1 to 1873)
  AUTHORS   Zhang,Y., Zagnitko,O., Rodionova,I., Osterman,A. and Godzik,A.
  TITLE     The FGGY carbohydrate kinase family: insights into the evolution of
            functional specificities
  JOURNAL   PLoS Comput Biol 7 (12), e1002318 (2011)
   PUBMED   22215998
REFERENCE   6  (bases 1 to 1873)
  AUTHORS   Fernandez-Santiago,R., Sharma,M., Berg,D., Illig,T., Anneser,J.,
            Meyer,T., Ludolph,A. and Gasser,T.
  TITLE     No evidence of association of FLJ10986 and ITPR2 with ALS in a
            large German cohort
  JOURNAL   Neurobiol Aging 32 (3), 551 (2011)
   PUBMED   19464757
  REMARK    GeneRIF: The result of this study suggested that FLJI0986 that do
            not modulate the risk for SALS in the German population.
REFERENCE   7  (bases 1 to 1873)
  AUTHORS   Van Es,M.A., Van Vught,P.W., Veldink,J.H., Andersen,P.M., Birve,A.,
            Lemmens,R., Cronin,S., Van Der Kooi,A.J., De Visser,M.,
            Schelhaas,H.J., Hardiman,O., Ragoussis,I., Lambrechts,D.,
            Robberecht,W., Wokke,J.H., Ophoff,R.A. and Van Den Berg,L.H.
  TITLE     Analysis of FGGY as a risk factor for sporadic amyotrophic lateral
            sclerosis
  JOURNAL   Amyotroph Lateral Scler 10 (5-6), 441-447 (2009)
   PUBMED   19922138
  REMARK    GeneRIF: Results suggest that common genetic variation in FGGY is
            not associated with susceptibility to sporadic ALS in genetically
            homogeneous populations from northern Europe.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1873)
  AUTHORS   Fang,D.F., Zhang,S.S., Guo,X.Y., Zeng,Y., Yang,Y., Zhou,D. and
            Shang,H.F.
  TITLE     Clinical and genetic features of patients with sporadic amyotrophic
            lateral sclerosis in south-west China
  JOURNAL   Amyotroph Lateral Scler 10 (5-6), 350-354 (2009)
   PUBMED   19922123
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1873)
  AUTHORS   Chio,A., Schymick,J.C., Restagno,G., Scholz,S.W., Lombardo,F.,
            Lai,S.L., Mora,G., Fung,H.C., Britton,A., Arepalli,S., Gibbs,J.R.,
            Nalls,M., Berger,S., Kwee,L.C., Oddone,E.Z., Ding,J., Crews,C.,
            Rafferty,I., Washecka,N., Hernandez,D., Ferrucci,L., Bandinelli,S.,
            Guralnik,J., Macciardi,F., Torri,F., Lupoli,S., Chanock,S.J.,
            Thomas,G., Hunter,D.J., Gieger,C., Wichmann,H.E., Calvo,A.,
            Mutani,R., Battistini,S., Giannini,F., Caponnetto,C.,
            Mancardi,G.L., La Bella,V., Valentino,F., Monsurro,M.R.,
            Tedeschi,G., Marinou,K., Sabatelli,M., Conte,A., Mandrioli,J.,
            Sola,P., Salvi,F., Bartolomei,I., Siciliano,G., Carlesi,C.,
            Orrell,R.W., Talbot,K., Simmons,Z., Connor,J., Pioro,E.P.,
            Dunkley,T., Stephan,D.A., Kasperaviciute,D., Fisher,E.M.,
            Jabonka,S., Sendtner,M., Beck,M., Bruijn,L., Rothstein,J.,
            Schmidt,S., Singleton,A., Hardy,J. and Traynor,B.J.
  TITLE     A two-stage genome-wide association study of sporadic amyotrophic
            lateral sclerosis
  JOURNAL   Hum Mol Genet 18 (8), 1524-1532 (2009)
   PUBMED   19193627
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   10 (bases 1 to 1873)
  AUTHORS   Dunckley,T., Huentelman,M.J., Craig,D.W., Pearson,J.V.,
            Szelinger,S., Joshipura,K., Halperin,R.F., Stamper,C., Jensen,K.R.,
            Letizia,D., Hesterlee,S.E., Pestronk,A., Levine,T., Bertorini,T.,
            Graves,M.C., Mozaffar,T., Jackson,C.E., Bosch,P., McVey,A.,
            Dick,A., Barohn,R., Lomen-Hoerth,C., Rosenfeld,J., O'connor,D.T.,
            Zhang,K., Crook,R., Ryberg,H., Hutton,M., Katz,J., Simpson,E.P.,
            Mitsumoto,H., Bowser,R., Miller,R.G., Appel,S.H. and Stephan,D.A.
  TITLE     Whole-genome analysis of sporadic amyotrophic lateral sclerosis
  JOURNAL   N Engl J Med 357 (8), 775-788 (2007)
   PUBMED   17671248
  REMARK    GeneRIF: Variants of FLJ10986 may confer susceptibility to sporadic
            ALS (amyotrophic lateral sclerosis).
            GeneRIF: Genome-wide association study of gene-disease association.
            (HuGE Navigator)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC014947.1 and AL035416.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 2, 2019 this sequence version replaced NM_018291.4.
            
            Summary: This gene encodes a protein that phosphorylates
            carbohydrates such as ribulose, ribitol, and L-arabinitol.
            Genome-wide association studies in some populations have found an
            association between polymorphisms in this gene and sporadic
            amyotrophic lateral sclerosis, but studies of other populations
            have not been able to replicate this association. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, May 2013].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon, compared to variant 1. The encoded isoform (b) is shorter
            than isoform a. Variants 2 and 7 encode the same protein (isoform
            b).
            
            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 :: BC014947.1, AK315649.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303721.12/ ENSP00000305922.8
            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
            1-1782              BC014947.1         27-1808
            1783-1873           AL035416.7         102540-102630       c
FEATURES             Location/Qualifiers
     source          1..1873
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.1"
     gene            1..1873
                     /gene="FGGY"
                     /note="FGGY carbohydrate kinase domain containing"
                     /db_xref="GeneID:55277"
                     /db_xref="HGNC:HGNC:25610"
                     /db_xref="MIM:611370"
     exon            1..57
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            58..272
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..1727
                     /gene="FGGY"
                     /EC_number="2.7.1.47"
                     /note="isoform b is encoded by transcript variant 2; FGGY
                     carbohydrate kinase domain-containing protein;
                     D-ribulokinase; D-ribulokinase FGGY"
                     /codon_start=1
                     /product="FGGY carbohydrate kinase domain-containing
                     protein isoform b"
                     /protein_id="NP_060761.3"
                     /db_xref="CCDS:CCDS611.2"
                     /db_xref="GeneID:55277"
                     /db_xref="HGNC:HGNC:25610"
                     /db_xref="MIM:611370"
                     /translation="MSGGEQKPERYYVGVDVGTGSVRAALVDQSGVLLAFADQPIKNW
                     EPQFNHHEQSSEDIWAACCVVTKKVVQGIDLNQIRGLGFDATCSLVVLDKQFHPLPVN
                     QEGDSHRNVIMWLDHRAVSQVNRINETKHSVLQYVGGVMSVEMQAPKLLWLKENLREI
                     CWDKAGHFFDLPDFLSWKATGVTARSLCSLVCKWTYSAEKGWDDSFWKMIGLEDFVAD
                     NYSKIGNQVLPPGASLGNGLTPEAARDLGLLPGIAVAASLIDAHAGGLGVIGADVRGH
                     GLICEGQPVTSRLAVICGTSSCHMGISKDPIFVPGVWGPYFSAMVPGFWLNEGGQSVT
                     GKLIDHMVQGHAAFPELQVKATARCQSIYAYLNSHLDLIKKAQPVGFLTVDLHVWPDF
                     HGNRSPLADLTLKGMVTGLKLSQDLDDLAILYLATVQAIALGTRFIIEAMEAAGHSIS
                     TLFLCGGLSKNPLFVQMHADITGMPVVLSQEVESVLVGAAVLGACASGDFASVQEAMA
                     KMSKVGKVVFPRLQDKKYYDKKYQVFLKLVEHQKEYLAIMNDD"
     exon            273..384
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            385..536
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            537..625
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            626..741
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            742..870
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            871..974
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1082
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1144
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1145..1292
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1293..1367
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1368..1488
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..1583
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1584..1645
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            1646..1873
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1848..1853
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGGY"
                     /note="hexamer: AAGAAA"
     regulatory      1853..1858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGGY"
                     /note="hexamer: AACAAA"
     polyA_site      1870
                     /gene="FGGY"
                     /note="major polyA site"
     polyA_site      1873
                     /gene="FGGY"
ORIGIN      
        1 acacccgccg ggccgttgtt cccgagacgt tgttgagtcc cctgtgtcct cttctgggtg
       61 gaggaactgc aatgtctggt ggagaacaga aaccagagag gtactatgtg ggtgtggacg
      121 ttggaacagg cagtgtccgt gcagctctgg tggaccagag tggggtcctg ttggcttttg
      181 cagaccagcc aattaagaat tgggagcccc agttcaacca ccatgagcag tcctccgagg
      241 acatctgggc tgcgtgctgt gttgtcacaa agaaagttgt acaagggatt gatttaaacc
      301 aaattcgagg acttgggttt gatgccacgt gttctctggt tgttttggat aagcagtttc
      361 acccattacc agtcaaccag gaaggggatt cccatcgaaa cgtcatcatg tggctggacc
      421 atcgagcagt cagtcaagtt aacaggatca atgagaccaa gcacagtgtc ctccagtacg
      481 tcgggggggt gatgtctgtg gaaatgcagg ccccgaaact tctgtggctg aaagagaact
      541 tgagagagat ttgctgggat aaggcgggac atttctttga tctcccggac ttcttatcgt
      601 ggaaggcaac aggtgtcaca gcacggtctc tctgctccct ggtgtgtaag tggacatatt
      661 cagcagagaa aggctgggac gacagtttct ggaaaatgat tggtttggaa gactttgttg
      721 cagataatta cagcaaaata ggaaaccaag tgctacctcc tggagcttct cttggaaatg
      781 ggctcacacc agaggcagca agagaccttg gccttctccc tgggattgcg gtcgcagctt
      841 cactcattga tgcccatgca ggaggactag gagtgattgg ggcagatgtg agagggcacg
      901 gcctcatctg tgaggggcag ccagtgacgt cacggctggc tgtcatctgt ggaacgtctt
      961 cttgtcacat ggggatcagc aaagacccga tttttgtacc aggcgtctgg gggccttatt
     1021 tctcagccat ggtacctggg ttctggctga atgaaggtgg tcagagcgtt actggaaaat
     1081 tgatagacca catggtacaa ggccatgctg cttttccaga actacaagta aaggccacag
     1141 ccagatgcca gagtatatat gcatatttga acagtcacct ggatctgatt aagaaggctc
     1201 agcctgtggg tttccttact gttgatttac atgtttggcc agatttccat ggcaaccggt
     1261 ctcccttagc agatctgaca ctaaagggca tggtcaccgg attgaaactg tctcaggacc
     1321 ttgatgatct tgccattctc tacctggcca cagttcaagc cattgctttg gggactcgct
     1381 tcattataga agccatggag gcagcagggc actcaatcag tactcttttc ctatgtggag
     1441 gcctcagcaa gaatcccctt tttgtgcaaa tgcatgcgga cattactggc atgcctgtgg
     1501 tcctgtcgca agaggtggag tccgttcttg tgggtgctgc tgttctgggt gcctgtgcct
     1561 caggggattt cgcttctgta caggaagcaa tggcaaaaat gagcaaagtt gggaaagttg
     1621 tgttcccgag actacaggat aaaaaatact atgataagaa ataccaagta ttcctgaagc
     1681 tggttgaaca ccagaaggag tatttggcga tcatgaatga tgactgaaca gggcttgcag
     1741 gtgctgatgc cagaagcttc tgtgccattg cattaaagac ttgtcatttg atccatgttc
     1801 aagacccttg aggtattgtt tcatcatttc tgtattgtct ttcaataaag aaaacaaaca
     1861 tgtgcaacca gaa
//
