LOCUS       NM_001278224            1166 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens FGGY carbohydrate kinase domain containing (FGGY),
            transcript variant 4, mRNA.
ACCESSION   NM_001278224
VERSION     NM_001278224.2
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  (bases 1 to 1166)
  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 1166)
  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 1166)
  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 1166)
  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 1166)
  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 1166)
  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 1166)
  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 1166)
  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 1166)
  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 1166)
  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 AL390234.13 and BC014947.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001278224.1.
            
            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 (4) differs in the 5' UTR and
            contains multiple differences in the coding region, including the
            lack of multiple 5' coding exons, compared to variant 1. It
            represents use of an alternate promoter and initiates translation
            at a downstream in-frame start codon. The encoded isoform (d) has a
            shorter N-terminus, compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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##
            CDS exon combination :: BC000610.2, ERR279856.575.1 [ECO:0000331]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-166               AL390234.13        81882-82047         c
            167-1078            BC014947.1         897-1808
            1079-1166           BC014947.1         1811-1898
FEATURES             Location/Qualifiers
     source          1..1166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.1"
     gene            1..1166
                     /gene="FGGY"
                     /note="FGGY carbohydrate kinase domain containing"
                     /db_xref="GeneID:55277"
                     /db_xref="HGNC:HGNC:25610"
                     /db_xref="MIM:611370"
     exon            1..166
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            167..270
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     CDS             265..1023
                     /gene="FGGY"
                     /EC_number="2.7.1.47"
                     /note="isoform d is encoded by transcript variant 4; FGGY
                     carbohydrate kinase domain-containing protein;
                     D-ribulokinase; D-ribulokinase FGGY"
                     /codon_start=1
                     /product="FGGY carbohydrate kinase domain-containing
                     protein isoform d"
                     /protein_id="NP_001265153.1"
                     /db_xref="CCDS:CCDS60155.1"
                     /db_xref="GeneID:55277"
                     /db_xref="HGNC:HGNC:25610"
                     /db_xref="MIM:611370"
                     /translation="MGISKDPIFVPGVWGPYFSAMVPGFWLNEGGQSVTGKLIDHMVQ
                     GHAAFPELQVKATARCQSIYAYLNSHLDLIKKAQPVGFLTVDLHVWPDFHGNRSPLAD
                     LTLKGMVTGLKLSQDLDDLAILYLATVQAIALGTRFIIEAMEAAGHSISTLFLCGGLS
                     KNPLFVQMHADITGMPVVLSQEVESVLVGAAVLGACASGDFASVQEAMAKMSKVGKVV
                     FPRLQDKKYYDKKYQVFLKLVEHQKEYLAIMNDD"
     exon            271..378
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            379..440
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            441..588
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            589..663
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            664..784
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            785..879
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            880..941
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1166
                     /gene="FGGY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1144..1149
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGGY"
                     /note="hexamer: AAGAAA"
     polyA_site      1166
                     /gene="FGGY"
                     /note="major polyA site"
ORIGIN      
        1 gccagtcttt cccatgctgt tctcgtgata gtaagtctca caagatctga tgggtttatc
       61 aggcttttct gcgtttgctt cttcctcatt ctttcttgct gccaccatgt aagaagtgcc
      121 ttttgccctc caccatgatt atgagacctc ccagccgtgt ggaactgagt gattggggca
      181 gatgtgagag ggcacggcct catctgtgag gggcagccag tgacgtcacg gctggctgtc
      241 atctgtggaa cgtcttcttg tcacatgggg atcagcaaag acccgatttt tgtaccaggc
      301 gtctgggggc cttatttctc agccatggta cctgggttct ggctgaatga aggtggtcag
      361 agcgttactg gaaaattgat agaccacatg gtacaaggcc atgctgcttt tccagaacta
      421 caagtaaagg ccacagccag atgccagagt atatatgcat atttgaacag tcacctggat
      481 ctgattaaga aggctcagcc tgtgggtttc cttactgttg atttacatgt ttggccagat
      541 ttccatggca accggtctcc cttagcagat ctgacactaa agggcatggt caccggattg
      601 aaactgtctc aggaccttga tgatcttgcc attctctacc tggccacagt tcaagccatt
      661 gctttgggga ctcgcttcat tatagaagcc atggaggcag cagggcactc aatcagtact
      721 cttttcctat gtggaggcct cagcaagaat cccctttttg tgcaaatgca tgcggacatt
      781 actggcatgc ctgtggtcct gtcgcaagag gtggagtccg ttcttgtggg tgctgctgtt
      841 ctgggtgcct gtgcctcagg ggatttcgct tctgtacagg aagcaatggc aaaaatgagc
      901 aaagttggga aagttgtgtt cccgagacta caggataaaa aatactatga taagaaatac
      961 caagtattcc tgaagctggt tgaacaccag aaggagtatt tggcgatcat gaatgatgac
     1021 tgaacagggc ttgcaggtgc tgatgccaga agcttctgtg ccattgcatt aaagacttgt
     1081 catttgatcc atgttcaaga cccttgaggt attgtttcat catttctgta ttgtctttca
     1141 ataaagaaaa caaacatgtg caacca
//
