ID   FCSK_HUMAN              Reviewed;        1084 AA.
AC   Q8N0W3; Q5PSM3; Q5XKL6; Q6ZRA0; Q96MT9;
DT   28-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT   30-AUG-2005, sequence version 2.
DT   25-MAY-2022, entry version 156.
DE   RecName: Full=L-fucose kinase {ECO:0000305};
DE            Short=Fucokinase;
DE            EC=2.7.1.52 {ECO:0000269|PubMed:30503518};
GN   Name=FCSK {ECO:0000312|HGNC:HGNC:29500};
GN   Synonyms=FUK {ECO:0000312|HGNC:HGNC:29500};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX   PubMed=12056818; DOI=10.1016/s0006-291x(02)00541-7;
RA   Hinderlich S., Berger M., Blume A., Chen H., Ghaderi D., Bauer C.;
RT   "Identification of human L-fucose kinase amino acid sequence.";
RL   Biochem. Biophys. Res. Commun. 294:650-654(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Neuron, and Thymus;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS MET-146; THR-521; HIS-571;
RP   LEU-701; THR-858; MET-861; TRP-901; GLN-939 AND TRP-939.
RG   SeattleSNPs variation discovery resource;
RL   Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Brain, and Uterus;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   INVOLVEMENT IN CDGF2, FUNCTION, CATALYTIC ACTIVITY, VARIANTS CDGF2 PRO-223;
RP   CYS-683 AND GLN-994, AND TISSUE SPECIFICITY.
RX   PubMed=30503518; DOI=10.1016/j.ajhg.2018.10.021;
RG   Undiagnosed Diseases Network;
RA   Ng B.G., Rosenfeld J.A., Emrick L., Jain M., Burrage L.C., Lee B.,
RA   Craigen W.J., Bearden D.R., Graham B.H., Freeze H.H.;
RT   "Pathogenic Variants in Fucokinase Cause a Congenital Disorder of
RT   Glycosylation.";
RL   Am. J. Hum. Genet. 103:1030-1037(2018).
CC   -!- FUNCTION: Takes part in the salvage pathway for reutilization of fucose
CC       from the degradation of oligosaccharides.
CC       {ECO:0000269|PubMed:30503518}.
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=ATP + L-fucose = ADP + beta-L-fucose 1-phosphate + H(+);
CC         Xref=Rhea:RHEA:13241, ChEBI:CHEBI:2181, ChEBI:CHEBI:15378,
CC         ChEBI:CHEBI:30616, ChEBI:CHEBI:57268, ChEBI:CHEBI:456216;
CC         EC=2.7.1.52; Evidence={ECO:0000269|PubMed:30503518};
CC   -!- INTERACTION:
CC       Q8N0W3; Q7Z3K3: POGZ; NbExp=3; IntAct=EBI-4291312, EBI-1389308;
CC       Q8N0W3; O43711: TLX3; NbExp=3; IntAct=EBI-4291312, EBI-3939165;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8N0W3-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8N0W3-2; Sequence=VSP_015422, VSP_015423;
CC   -!- TISSUE SPECIFICITY: Expressed in fibroblasts.
CC       {ECO:0000269|PubMed:30503518}.
CC   -!- DISEASE: Congenital disorder of glycosylation with defective
CC       fucosylation 2 (CDGF2) [MIM:618324]: A form of congenital disorder of
CC       glycosylation, a genetically heterogeneous group of multisystem
CC       disorders caused by a defect in glycoprotein biosynthesis and
CC       characterized by under-glycosylated serum glycoproteins. Congenital
CC       disorders of glycosylation result in a wide variety of clinical
CC       features, such as defects in the nervous system development,
CC       psychomotor retardation, dysmorphic features, hypotonia, coagulation
CC       disorders, and immunodeficiency. CDGF2 is an autosomal recessive
CC       disorder, apparent from birth, characterized by hypotonia, poor
CC       feeding, severely impaired intellectual and psychomotor development,
CC       seizures with epileptic encephalopathy, visual impairment and other
CC       ocular features, respiratory difficulty with frequent infections, as
CC       well as contractures. Brain imaging shows cerebellar and brainstem
CC       atrophy, hypoplasia or agenesis of the corpus callosum, and white
CC       matter abnormalities including periventricular leukomalacia.
CC       {ECO:0000269|PubMed:30503518}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the GHMP kinase family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAB71190.1; Type=Frameshift; Evidence={ECO:0000305};
CC       Sequence=CAD29647.1; Type=Frameshift; Evidence={ECO:0000305};
CC   -!- WEB RESOURCE: Name=SeattleSNPs;
CC       URL="http://pga.gs.washington.edu/data/fuk/";
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DR   EMBL; AJ441184; CAD29647.1; ALT_FRAME; mRNA.
DR   EMBL; AK056456; BAB71190.1; ALT_FRAME; mRNA.
DR   EMBL; AK128387; BAC87413.1; -; mRNA.
DR   EMBL; AY829643; AAV67949.1; -; Genomic_DNA.
DR   EMBL; BC013735; AAH13735.1; -; mRNA.
DR   EMBL; BC032542; AAH32542.2; -; mRNA.
DR   CCDS; CCDS10891.2; -. [Q8N0W3-1]
DR   PIR; JC7878; JC7878.
DR   RefSeq; NP_659496.2; NM_145059.2. [Q8N0W3-1]
DR   RefSeq; XP_011521230.1; XM_011522928.1. [Q8N0W3-1]
DR   RefSeq; XP_011521231.1; XM_011522929.1. [Q8N0W3-1]
DR   RefSeq; XP_016878501.1; XM_017023012.1. [Q8N0W3-1]
DR   AlphaFoldDB; Q8N0W3; -.
DR   BioGRID; 128243; 87.
DR   IntAct; Q8N0W3; 5.
DR   STRING; 9606.ENSP00000288078; -.
DR   iPTMnet; Q8N0W3; -.
DR   PhosphoSitePlus; Q8N0W3; -.
DR   BioMuta; FUK; -.
DR   DMDM; 73915340; -.
DR   EPD; Q8N0W3; -.
DR   jPOST; Q8N0W3; -.
DR   MassIVE; Q8N0W3; -.
DR   MaxQB; Q8N0W3; -.
DR   PaxDb; Q8N0W3; -.
DR   PeptideAtlas; Q8N0W3; -.
DR   PRIDE; Q8N0W3; -.
DR   ProteomicsDB; 71470; -. [Q8N0W3-1]
DR   ProteomicsDB; 71471; -. [Q8N0W3-2]
DR   Antibodypedia; 29979; 159 antibodies from 27 providers.
DR   DNASU; 197258; -.
DR   Ensembl; ENST00000288078.11; ENSP00000288078.6; ENSG00000157353.17.
DR   Ensembl; ENST00000378912.6; ENSP00000368192.2; ENSG00000157353.17. [Q8N0W3-2]
DR   GeneID; 197258; -.
DR   KEGG; hsa:197258; -.
DR   MANE-Select; ENST00000288078.11; ENSP00000288078.6; NM_145059.3; NP_659496.2.
DR   UCSC; uc002eyy.4; human. [Q8N0W3-1]
DR   CTD; 197258; -.
DR   DisGeNET; 197258; -.
DR   GeneCards; FCSK; -.
DR   HGNC; HGNC:29500; FCSK.
DR   HPA; ENSG00000157353; Low tissue specificity.
DR   MalaCards; FCSK; -.
DR   MIM; 608675; gene.
DR   MIM; 618324; phenotype.
DR   neXtProt; NX_Q8N0W3; -.
DR   OpenTargets; ENSG00000157353; -.
DR   PharmGKB; PA134863646; -.
DR   VEuPathDB; HostDB:ENSG00000157353; -.
DR   eggNOG; KOG4644; Eukaryota.
DR   GeneTree; ENSGT00390000002251; -.
DR   HOGENOM; CLU_006983_0_0_1; -.
DR   InParanoid; Q8N0W3; -.
DR   OMA; QRWREAW; -.
DR   OrthoDB; 135001at2759; -.
DR   PhylomeDB; Q8N0W3; -.
DR   TreeFam; TF314554; -.
DR   BRENDA; 2.7.1.52; 2681.
DR   PathwayCommons; Q8N0W3; -.
DR   Reactome; R-HSA-6787639; GDP-fucose biosynthesis.
DR   SignaLink; Q8N0W3; -.
DR   BioGRID-ORCS; 197258; 13 hits in 1081 CRISPR screens.
DR   ChiTaRS; FUK; human.
DR   GenomeRNAi; 197258; -.
DR   Pharos; Q8N0W3; Tbio.
DR   PRO; PR:Q8N0W3; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   RNAct; Q8N0W3; protein.
DR   Bgee; ENSG00000157353; Expressed in right hemisphere of cerebellum and 187 other tissues.
DR   ExpressionAtlas; Q8N0W3; baseline and differential.
DR   Genevisible; Q8N0W3; HS.
DR   GO; GO:0005829; C:cytosol; TAS:Reactome.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0050201; F:fucokinase activity; IMP:UniProtKB.
DR   GO; GO:0046835; P:carbohydrate phosphorylation; IEA:Ensembl.
DR   GO; GO:0042352; P:GDP-L-fucose salvage; IMP:UniProtKB.
DR   GO; GO:1903350; P:response to dopamine; IEA:Ensembl.
DR   InterPro; IPR012887; Fucokinase.
DR   InterPro; IPR013750; GHMP_kinase_C_dom.
DR   InterPro; IPR036554; GHMP_kinase_C_sf.
DR   InterPro; IPR006204; GHMP_kinase_N_dom.
DR   InterPro; IPR020568; Ribosomal_S5_D2-typ_fold.
DR   Pfam; PF07959; Fucokinase; 1.
DR   Pfam; PF08544; GHMP_kinases_C; 1.
DR   Pfam; PF00288; GHMP_kinases_N; 1.
DR   SUPFAM; SSF54211; SSF54211; 1.
DR   SUPFAM; SSF55060; SSF55060; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; ATP-binding; Congenital disorder of glycosylation;
KW   Disease variant; Kinase; Nucleotide-binding; Reference proteome;
KW   Transferase.
FT   CHAIN           1..1084
FT                   /note="L-fucose kinase"
FT                   /id="PRO_0000156672"
FT   NP_BIND         834..845
FT                   /note="ATP"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         78
FT                   /note="T -> TWICVGVSLWIRGCHPPGRLPEASVHRAFPLLQ (in isoform
FT                   2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_015422"
FT   VAR_SEQ         816..841
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_015423"
FT   VARIANT         146
FT                   /note="V -> M (in dbSNP:rs17881323)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_021327"
FT   VARIANT         223
FT                   /note="S -> P (in CDGF2; unknown pathological significance;
FT                   dbSNP:rs769009456)"
FT                   /evidence="ECO:0000269|PubMed:30503518"
FT                   /id="VAR_081646"
FT   VARIANT         521
FT                   /note="A -> T (in dbSNP:rs17881069)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_021328"
FT   VARIANT         571
FT                   /note="R -> H (in dbSNP:rs17886171)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_021329"
FT   VARIANT         683
FT                   /note="R -> C (in CDGF2; unknown pathological significance;
FT                   dbSNP:rs755169246)"
FT                   /evidence="ECO:0000269|PubMed:30503518"
FT                   /id="VAR_081647"
FT   VARIANT         701
FT                   /note="P -> L (in dbSNP:rs17883716)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_021330"
FT   VARIANT         858
FT                   /note="A -> T (in dbSNP:rs17884050)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_021331"
FT   VARIANT         861
FT                   /note="V -> M (in dbSNP:rs17878599)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_021332"
FT   VARIANT         901
FT                   /note="R -> W (in dbSNP:rs17881635)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_021333"
FT   VARIANT         939
FT                   /note="R -> Q (in dbSNP:rs17886060)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_021334"
FT   VARIANT         939
FT                   /note="R -> W (in dbSNP:rs17883248)"
FT                   /evidence="ECO:0000269|Ref.3"
FT                   /id="VAR_021335"
FT   VARIANT         994
FT                   /note="K -> Q (in CDGF2; unknown pathological significance;
FT                   dbSNP:rs199515460)"
FT                   /evidence="ECO:0000269|PubMed:30503518"
FT                   /id="VAR_081648"
FT   CONFLICT        400
FT                   /note="L -> S (in Ref. 2; BAB71190)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        609
FT                   /note="C -> R (in Ref. 2; BAB71190)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1084 AA;  117623 MW;  153F91882F4B143C CRC64;
     MEQPKGVDWT VIILTCQYKD SVQVFQRELE VRQKREQIPA GTLLLAVEDP EKRVGSGGAT
     LNALLVAAEH LSARAGFTVV TSDVLHSAWI LILHMGRDFP FDDCGRAFTC LPVENPEAPV
     EALVCNLDCL LDIMTYRLGP GSPPGVWVCS TDMLLSVPAN PGISWDSFRG ARVIALPGSP
     AYAQNHGVYL TDPQGLVLDI YYQGTEAEIQ RCVRPDGRVP LVSGVVFFSV ETAERLLATH
     VSPPLDACTY LGLDSGARPV QLSLFFDILH CMAENVTRED FLVGRPPELG QGDADVAGYL
     QSARAQLWRE LRDQPLTMAY VSSGSYSYMT SSASEFLLSL TLPGAPGAQI VHSQVEEQQL
     LAAGSSVVSC LLEGPVQLGP GSVLQHCHLQ GPIHIGAGCL VTGLDTAHSK ALHGRELRDL
     VLQGHHTRLH GSPGHAFTLV GRLDSWERQG AGTYLNVPWS EFFKRTGVRA WDLWDPETLP
     AEYCLPSARL FPVLHPSREL GPQDLLWMLD HQEDGGEALR AWRASWRLSW EQLQPCLDRA
     ATLASRRDLF FRQALHKARH VLEARQDLSL RPLIWAAVRE GCPGPLLATL DQVAAGAGDP
     GVAARALACV ADVLGCMAEG RGGLRSGPAA NPEWMRPFSY LECGDLAAGV EALAQERDKW
     LSRPALLVRA ARHYEGAGQI LIRQAVMSAQ HFVSTEQVEL PGPGQWVVAE CPARVDFSGG
     WSDTPPLAYE LGGAVLGLAV RVDGRRPIGA RARRIPEPEL WLAVGPRQDE MTVKIVCRCL
     ADLRDYCQPH APGALLKAAF ICAGIVHVHS ELQLSEQLLR TFGGGFELHT WSELPHGSGL
     GTSSILAGTA LAALQRAAGR VVGTEALIHA VLHLEQVLTT GGGWQDQVGG LMPGIKVGRS
     RAQLPLKVEV EEVTVPEGFV QKLNDHLLLV YTGKTRLARN LLQDVLRSWY ARLPAVVQNA
     HSLVRQTEEC AEGFRQGSLP LLGQCLTSYW EQKKLMAPGC EPLTVRRMMD VLAPHVHGQS
     LAGAGGGGFL YLLTKEPQQK EALEAVLAKT EGLGNYSIHL VEVDTQGLSL KLLGTEASTC
     CPFP
//