LOCUS       NM_145059               3907 bp    mRNA    linear   PRI 20-MAY-2024
DEFINITION  Homo sapiens fucose kinase (FCSK), mRNA.
ACCESSION   NM_145059
VERSION     NM_145059.3
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 3907)
  AUTHORS   Fazelzadeh Haghighi,M., Jafari Khamirani,H., Fallahi,J.,
            Monfared,A.A., Ashrafi Dehkordi,K. and Tabei,S.M.B.
  TITLE     Novel insight into FCSK-congenital disorder of glycosylation
            through a CRISPR-generated cell model
  JOURNAL   Mol Genet Genomic Med 12 (5), e2445 (2024)
   PUBMED   38722107
  REMARK    GeneRIF: Novel insight into FCSK-congenital disorder of
            glycosylation through a CRISPR-generated cell model.
REFERENCE   2  (bases 1 to 3907)
  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   3  (bases 1 to 3907)
  AUTHORS   Ng,B.G., Rosenfeld,J.A., Emrick,L., Jain,M., Burrage,L.C., Lee,B.,
            Craigen,W.J., Bearden,D.R., Graham,B.H. and Freeze,H.H.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Pathogenic Variants in Fucokinase Cause a Congenital Disorder of
            Glycosylation
  JOURNAL   Am J Hum Genet 103 (6), 1030-1037 (2018)
   PUBMED   30503518
REFERENCE   4  (bases 1 to 3907)
  AUTHORS   Keeley,T., Lin,S., Lester,D.K., Lau,E.K. and Yang,S.
  TITLE     The fucose salvage pathway inhibits invadopodia formation and
            extracellular matrix degradation in melanoma cells
  JOURNAL   PLoS One 13 (6), e0199128 (2018)
   PUBMED   29924834
  REMARK    GeneRIF: Ectopic expression of FUK inhibits the formation and the
            proteolytic activities of invadopodia, suggesting that the fucose
            salvage pathway might control melanoma invasion through
            invadopodium-mediated ECM remodeling. FUK depletion in WM793
            melanoma cells at least partially abrogated the L-fucose-mediated
            inhibition of invadopodium formation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3907)
  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   6  (bases 1 to 3907)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   7  (bases 1 to 3907)
  AUTHORS   Hinderlich,S., Berger,M., Blume,A., Chen,H., Ghaderi,D. and
            Bauer,C.
  TITLE     Identification of human L-fucose kinase amino acid sequence
  JOURNAL   Biochem Biophys Res Commun 294 (3), 650-654 (2002)
   PUBMED   12056818
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ441184.1, BC032542.1 and
            BC013735.1.
            
            On Nov 22, 2018 this sequence version replaced NM_145059.2.
            
            Summary: The protein encoded by this gene belongs to the GHMP
            (galacto-, homoserine, mevalonate and phosphomevalonate) kinase
            family and catalyzes the phosphorylation of L-fucose to form
            beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in
            the utilization of free L-fucose in glycoprotein and glycolipid
            synthesis. L-fucose may be important in mediating a number of
            cell-cell interactions such as blood group antigen recognition,
            inflammation, and metastatis. While several transcript variants may
            exist for this gene, the full-length nature of only one has been
            described to date. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ441184.1, BC032542.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000288078.11/ ENSP00000288078.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AJ441184.1         1-6
            7-3904              BC032542.1         13-3910
            3905-3907           BC013735.1         3691-3693
FEATURES             Location/Qualifiers
     source          1..3907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..3907
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /note="fucose kinase"
                     /db_xref="GeneID:197258"
                     /db_xref="HGNC:HGNC:29500"
                     /db_xref="MIM:608675"
     exon            1..36
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            37..140
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..3313
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /EC_number="2.7.1.52"
                     /note="fucokinase"
                     /codon_start=1
                     /product="L-fucose kinase"
                     /protein_id="NP_659496.2"
                     /db_xref="CCDS:CCDS10891.2"
                     /db_xref="GeneID:197258"
                     /db_xref="HGNC:HGNC:29500"
                     /db_xref="MIM:608675"
                     /translation="MEQPKGVDWTVIILTCQYKDSVQVFQRELEVRQKREQIPAGTLL
                     LAVEDPEKRVGSGGATLNALLVAAEHLSARAGFTVVTSDVLHSAWILILHMGRDFPFD
                     DCGRAFTCLPVENPEAPVEALVCNLDCLLDIMTYRLGPGSPPGVWVCSTDMLLSVPAN
                     PGISWDSFRGARVIALPGSPAYAQNHGVYLTDPQGLVLDIYYQGTEAEIQRCVRPDGR
                     VPLVSGVVFFSVETAERLLATHVSPPLDACTYLGLDSGARPVQLSLFFDILHCMAENV
                     TREDFLVGRPPELGQGDADVAGYLQSARAQLWRELRDQPLTMAYVSSGSYSYMTSSAS
                     EFLLSLTLPGAPGAQIVHSQVEEQQLLAAGSSVVSCLLEGPVQLGPGSVLQHCHLQGP
                     IHIGAGCLVTGLDTAHSKALHGRELRDLVLQGHHTRLHGSPGHAFTLVGRLDSWERQG
                     AGTYLNVPWSEFFKRTGVRAWDLWDPETLPAEYCLPSARLFPVLHPSRELGPQDLLWM
                     LDHQEDGGEALRAWRASWRLSWEQLQPCLDRAATLASRRDLFFRQALHKARHVLEARQ
                     DLSLRPLIWAAVREGCPGPLLATLDQVAAGAGDPGVAARALACVADVLGCMAEGRGGL
                     RSGPAANPEWMRPFSYLECGDLAAGVEALAQERDKWLSRPALLVRAARHYEGAGQILI
                     RQAVMSAQHFVSTEQVELPGPGQWVVAECPARVDFSGGWSDTPPLAYELGGAVLGLAV
                     RVDGRRPIGARARRIPEPELWLAVGPRQDEMTVKIVCRCLADLRDYCQPHAPGALLKA
                     AFICAGIVHVHSELQLSEQLLRTFGGGFELHTWSELPHGSGLGTSSILAGTALAALQR
                     AAGRVVGTEALIHAVLHLEQVLTTGGGWQDQVGGLMPGIKVGRSRAQLPLKVEVEEVT
                     VPEGFVQKLNDHLLLVYTGKTRLARNLLQDVLRSWYARLPAVVQNAHSLVRQTEECAE
                     GFRQGSLPLLGQCLTSYWEQKKLMAPGCEPLTVRRMMDVLAPHVHGQSLAGAGGGGFL
                     YLLTKEPQQKEALEAVLAKTEGLGNYSIHLVEVDTQGLSLKLLGTEASTCCPFP"
     exon            141..292
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            293..343
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            344..469
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            470..542
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            543..640
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            641..721
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            722..841
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            842..1013
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1126
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1228
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1399
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1464
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            1465..1835
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            1836..2046
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            2047..2213
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            2214..2435
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            2436..2579
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            2580..2699
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            2700..2887
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            2888..2987
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            2988..3211
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     exon            3212..3907
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3885..3890
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /note="hexamer: AATAAA"
     polyA_site      3907
                     /gene="FCSK"
                     /gene_synonym="1110046B12Rik; CDGF2; FUK"
                     /note="major polyA site"
ORIGIN      
        1 aaagagcccg ctccgccgag cgccgggcga cggcaggaag cccctccgct tggccagaat
       61 ggagcagccg aagggagttg attggacagt catcatcctg acctgccagt acaaggacag
      121 tgtccaggtc tttcagagag aactggaagt gcggcagaag cgggagcaga tccctgctgg
      181 gacgctgtta ctggccgtgg aggacccaga gaagcgtgtg ggcagcggag gagccaccct
      241 caacgccctg ctggtggctg ctgaacacct gagtgcccgg gcaggcttca ctgtggtcac
      301 atccgatgtc ctgcactcgg cctggatcct cattctgcac atgggtcgag acttcccctt
      361 tgatgactgt ggcagggctt tcacctgcct ccccgtggag aaccccgagg cccccgtgga
      421 agccttggtc tgcaacctgg actgcctgct ggacatcatg acctatcggc tgggcccggg
      481 ctccccgcca ggcgtgtggg tctgcagcac cgacatgctg ctgtctgttc ctgcaaatcc
      541 tggtatcagc tgggacagct tccggggagc cagagtgatc gccctcccag ggagcccggc
      601 ctacgctcag aatcatggcg tctacctaac tgacccccag ggccttgttt tggacattta
      661 ctaccagggc actgaggcag agattcagcg gtgtgtcagg cctgatgggc gggtgccact
      721 ggtctctggg gttgtcttct tctctgtgga gactgccgag cgcctcctag ccacccacgt
      781 gagcccgccc ctggatgcct gcacctacct aggcttggac tccggagccc ggcctgtcca
      841 gctgtctctg ttttttgaca ttctccactg catggctgag aacgtgacca gggaggactt
      901 cctggtgggg aggcccccag agttggggca aggcgatgca gatgtagcgg gttatctgca
      961 gagcgcccgg gcccagctgt ggagggagct tcgcgatcag ccccttacca tggcctatgt
     1021 ctccagcggc agctacagct acatgacctc ctcagccagt gagttcctgc tcagcctcac
     1081 actccccggg gctcctgggg cccagattgt gcactcccag gtggaggagc agcagcttct
     1141 ggcggccggg agctctgtgg tcagctgcct gctggagggc cctgtccagc tgggtcctgg
     1201 gagcgtcctg cagcactgcc acctgcaggg ccccattcac ataggcgctg gctgcttggt
     1261 gactggcctg gatacagccc actccaaggc cctgcatggc cgggagctgc gtgaccttgt
     1321 cctgcaggga caccacacgc ggctacacgg ctccccgggc cacgccttca ccctcgttgg
     1381 ccgtctggac agctgggaga gacagggggc aggcacatat ctcaacgtgc cctggagtga
     1441 attcttcaag aggacaggtg ttcgagcctg ggacctgtgg gaccctgaga cgctgcccgc
     1501 agagtactgc cttcccagcg cccgcctctt tcctgtgctc cacccctcga gggagctggg
     1561 accccaggac ctgctgtgga tgctggacca ccaggaggat gggggcgagg ccctgcgagc
     1621 ctggcgggcc tcctggcgcc tgtcctggga gcagctgcag ccgtgcctgg atcgggctgc
     1681 cacgctggcc tctcgccggg acctgttctt ccgccaggcc ctgcataagg cgcggcacgt
     1741 gctggaggcc cggcaggacc tcagcctgcg cccgctgatc tgggctgctg tccgcgaggg
     1801 ctgccccggg cccctgctgg ccacgctgga ccaggttgca gctggggcag gagaccctgg
     1861 tgtggcggca cgggcactgg cctgtgtggc ggacgtcctg ggctgcatgg cagagggccg
     1921 tgggggcttg cggagcgggc cagctgccaa ccctgagtgg atgcggccct tctcatacct
     1981 ggagtgtgga gacctggcag cgggcgtgga ggcgcttgcc caggagaggg acaagtggct
     2041 aagcaggcca gccttgctgg tgcgagcggc ccgccactat gagggggctg gtcagatcct
     2101 gatccgccag gctgtgatgt cagcccagca ctttgtctcc acagagcagg tggaactgcc
     2161 gggacctggg cagtgggtgg tggctgagtg cccggcccgt gtggatttct ctgggggctg
     2221 gagtgacacg ccaccccttg cctatgagct tggcggggct gtgctgggcc tggctgtgcg
     2281 agtggacggc cgccggccca tcggagccag ggcacgccgc atcccggagc ctgagctgtg
     2341 gctggcggtg gggcctcggc aggatgagat gactgtgaag atagtgtgcc ggtgcctggc
     2401 tgacctgcgg gactactgcc agcctcatgc cccaggggcc ctgctgaagg cggccttcat
     2461 ctgtgcaggg atcgtgcatg tccactcgga actccagctg agtgagcagc tgctccgcac
     2521 cttcgggggc ggctttgagc tgcacacctg gtctgagctg ccccacggct ctggcctggg
     2581 caccagcagc atcctggcag gcactgccct ggctgccttg cagcgagccg caggccgggt
     2641 ggtgggcacg gaagccctga tccacgcagt gctgcacctg gagcaggtgc tcaccactgg
     2701 aggtggctgg caggaccaag taggtggcct aatgcctggc atcaaggtgg ggcgctcccg
     2761 ggctcagctg ccactgaagg tggaggtaga agaggtcacg gtgcctgagg gctttgtcca
     2821 gaagctcaat gaccacctgc tcttggtgta cactggcaag acccgcctgg ctcggaacct
     2881 gctgcaggat gtgctgagga gctggtatgc ccgacttcct gctgtggtgc agaatgccca
     2941 cagcctggta cggcaaactg aggagtgtgc tgaaggcttc cgccaaggaa gcctgcctct
     3001 gctgggccag tgcctgacct cgtactggga gcagaagaag ctcatggctc caggctgtga
     3061 gcccctgact gtgcggcgta tgatggatgt cctggccccc cacgtgcatg gccagagcct
     3121 ggctggggca ggcggtggag gctttctcta tctgttgacc aaggagccac agcaaaagga
     3181 ggccttggag gcggtgctgg ccaagaccga gggccttggg aattacagca tccacctggt
     3241 tgaagtggac actcagggcc tgagcctgaa gctgctgggg accgaggcct caacctgttg
     3301 ccctttccca tgaagctggc ttctctctgc aacaggagaa aacctggagc tacagtgtcc
     3361 cccaccttcc ttgccccatg ggaacctcca cctcctactc cccacccacc tctgcgaatc
     3421 tgctcccaaa ggaagctgac cagagcaaga tctgggcaag cagagagtgc ctgggacagg
     3481 actgtgacct ggtggacagg ggcctagatg tagcctctgt tcctcctgga cataggaagg
     3541 tcccaagctt agtatcccac gtggccttta caaatcctat ggctggcctt ctcattccac
     3601 aagggccctg gaaagggttg acagccagcc ttggcatatg gctgggagtc ccttagcaag
     3661 gccaaccctg aagaggccct ttgaggcatt ccctatggct tagagttgta gacttacact
     3721 caaccctcat gtgagcgtgg gagtgagggt ggcggtccct tgccaagttg gtagcagtga
     3781 cccagtgatt cactgccatc ccaggcctta actagcaaaa ctacggagcg tgccaagtga
     3841 cctggtgcct gtgggaagtg ggttctcagg actggcattc ttggaataaa ttcactctgt
     3901 ccttgca
//
