LOCUS       NM_001384359            3425 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens fucosyltransferase 1 (H blood group) (FUT1),
            transcript variant 3, mRNA.
ACCESSION   NM_001384359
VERSION     NM_001384359.1
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 3425)
  AUTHORS   Chen,S., Hayoun-Neeman,D., Nagar,M., Pinyan,S., Hadad,L.,
            Yaacobov,L., Alon,L., Shachar,L.E., Swissa,T., Kryukov,O.,
            Gershoni-Yahalom,O., Rosental,B., Cohen,S. and Lichtenstein,R.G.
  TITLE     Terminal alpha1,2-fucosylation of glycosphingolipids by FUT1 is a
            key regulator in early cell-fate decisions
  JOURNAL   EMBO Rep 25 (10), 4433-4464 (2024)
   PUBMED   39256596
  REMARK    GeneRIF: Terminal alpha1,2-fucosylation of glycosphingolipids by
            FUT1 is a key regulator in early cell-fate decisions.
REFERENCE   2  (bases 1 to 3425)
  AUTHORS   Shahriyari,F., Oodi,A., Kenari,F.N. and Shahabi,M.
  TITLE     Identification of two novel FUT1 mutations in people with Bombay
            phenotype from Iran
  JOURNAL   Transfus Apher Sci 62 (3), 103640 (2023)
   PUBMED   36641332
  REMARK    GeneRIF: Identification of two novel FUT1 mutations in people with
            Bombay phenotype from Iran.
REFERENCE   3  (bases 1 to 3425)
  AUTHORS   Luo,J., Mao,K., Zhu,Z., Ye,J., Li,L., Wang,D., Zhou,J., Lin,F.,
            Li,J. and Ye,J.
  TITLE     FUT1-mediated terminal fucosylation acts as a new target to
            attenuate renal fibrosis
  JOURNAL   Mol Med 29 (1), 55 (2023)
   PUBMED   37085770
  REMARK    GeneRIF: FUT1-mediated terminal fucosylation acts as a new target
            to attenuate renal fibrosis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3425)
  AUTHORS   Li,T., Shan,Y., Zhou,X., Wu,L., Xie,J., Du,C., Chong,J. and Liu,J.
  TITLE     Molecular Genetic Analysis of Para-Bombay Phenotype in Chinese:
            Identification of a Novel FUT1 Allele
  JOURNAL   Clin Lab 69 (1) (2023)
   PUBMED   36649506
  REMARK    GeneRIF: Molecular Genetic Analysis of Para-Bombay Phenotype in
            Chinese: Identification of a Novel FUT1 Allele.
REFERENCE   5  (bases 1 to 3425)
  AUTHORS   Zhang,K., Lin,F., Li,X., Zhang,X. and Li,J.
  TITLE     [Analysis of two novel variants of FUT1 gene in a Chinese family
            with para-Bombay phenotype]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 38 (10), 1007-1011 (2021)
   PUBMED   34625943
  REMARK    GeneRIF: [Analysis of two novel variants of FUT1 gene in a Chinese
            family with para-Bombay phenotype].
REFERENCE   6  (bases 1 to 3425)
  AUTHORS   Reguigne-Arnould,I., Couillin,P., Mollicone,R., Faure,S.,
            Fletcher,A., Kelly,R.J., Lowe,J.B. and Oriol,R.
  TITLE     Relative positions of two clusters of human
            alpha-L-fucosyltransferases in 19q (FUT1-FUT2) and 19p
            (FUT6-FUT3-FUT5) within the microsatellite genetic map of
            chromosome 19
  JOURNAL   Cytogenet Cell Genet 71 (2), 158-162 (1995)
   PUBMED   7656588
REFERENCE   7  (bases 1 to 3425)
  AUTHORS   Ball,S.P., Tongue,N., Gibaud,A., Le Pendu,J., Mollicone,R.,
            Gerard,G. and Oriol,R.
  TITLE     The human chromosome 19 linkage group FUT1 (H), FUT2 (SE), LE, LU,
            PEPD, C3, APOC2, D19S7 and D19S9
  JOURNAL   Ann Hum Genet 55 (3), 225-233 (1991)
   PUBMED   1763885
REFERENCE   8  (bases 1 to 3425)
  AUTHORS   Larsen,R.D., Ernst,L.K., Nair,R.P. and Lowe,J.B.
  TITLE     Molecular cloning, sequence, and expression of a human
            GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase cDNA
            that can form the H blood group antigen
  JOURNAL   Proc Natl Acad Sci U S A 87 (17), 6674-6678 (1990)
   PUBMED   2118655
REFERENCE   9  (bases 1 to 3425)
  AUTHORS   Le Pendu,J., Lemieux,R.U., Lambert,F., Dalix,A.M. and Oriol,R.
  TITLE     Distribution of H type 1 and H type 2 antigenic determinants in
            human sera and saliva
  JOURNAL   Am J Hum Genet 34 (3), 402-415 (1982)
   PUBMED   6177241
REFERENCE   10 (bases 1 to 3425)
  AUTHORS   Oriol,R., Danilovs,J. and Hawkins,B.R.
  TITLE     A new genetic model proposing that the Se gene is a structural gene
            closely linked to the H gene
  JOURNAL   Am J Hum Genet 33 (3), 421-431 (1981)
   PUBMED   7246545
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009002.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a Golgi stack membrane protein that is
            involved in the creation of a precursor of the H antigen, which is
            required for the final step in the synthesis of soluble A and B
            antigens. This is one of two genes encoding the galactoside
            2-L-fucosyltransferase enzyme. Mutations in this gene are a cause
            of the H-Bombay blood group. [provided by RefSeq, Aug 2016].
            
            Transcript Variant: his variant (3) contains a shorter 5' UTR
            compared to variant 1. Variants 1, 2 and 3 encode the same protein.
            
            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 :: M35531.1, SRR11853563.17259.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153031, SAMEA2163105
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000645652.2/ ENSP00000494643.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-152               AC009002.5         15287-15438
            153-3425            AC009002.5         16645-19917
FEATURES             Location/Qualifiers
     source          1..3425
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..3425
                     /gene="FUT1"
                     /gene_synonym="H; HH; HSC"
                     /note="fucosyltransferase 1 (H blood group)"
                     /db_xref="GeneID:2523"
                     /db_xref="HGNC:HGNC:4012"
                     /db_xref="MIM:211100"
     exon            1..152
                     /gene="FUT1"
                     /gene_synonym="H; HH; HSC"
                     /inference="alignment:Splign:2.1.0"
     exon            153..3425
                     /gene="FUT1"
                     /gene_synonym="H; HH; HSC"
                     /inference="alignment:Splign:2.1.0"
     CDS             155..1252
                     /gene="FUT1"
                     /gene_synonym="H; HH; HSC"
                     /EC_number="2.4.1.69"
                     /EC_number="2.4.1.344"
                     /note="blood group H alpha 2-fucosyltransferase;
                     nonfunctional fucosyltransferase 1; alpha(1,2)
                     fucosyltransferase 1; GDP-L-fucose:beta-D-galactoside
                     2-alpha-L-fucosyltransferase 1; type 1 galactoside
                     alpha-(1,2)-fucosyltransferase FUT1; alpha(1,2)FT 1; H
                     glycosyltransferase; H glycosytransferase; type 2
                     galactoside alpha-(1,2)-fucosyltransferase FUT1;
                     galactoside 2-L-fucosyltransferase enzyme; H antigen; a-1,
                     2 fucosyltransferase (H antigen)"
                     /codon_start=1
                     /product="galactoside alpha-(1,2)-fucosyltransferase 1"
                     /protein_id="NP_001371288.1"
                     /db_xref="CCDS:CCDS12733.1"
                     /db_xref="GeneID:2523"
                     /db_xref="HGNC:HGNC:4012"
                     /db_xref="MIM:211100"
                     /translation="MWLRSHRQLCLAFLLVCVLSVIFFLHIHQDSFPHGLGLSILCPD
                     RRLVTPPVAIFCLPGTAMGPNASSSCPQHPASLSGTWTVYPNGRFGNQMGQYATLLAL
                     AQLNGRRAFILPAMHAALAPVFRITLPVLAPEVDSRTPWRELQLHDWMSEEYADLRDP
                     FLKLSGFPCSWTFFHHLREQIRREFTLHDHLREEAQSVLGQLRLGRTGDRPRTFVGVH
                     VRRGDYLQVMPQRWKGVVGDSAYLRQAMDWFRARHEAPVFVVTSNGMEWCKENIDTSQ
                     GDVTFAGDGQEATPWKDFALLTQCNHTIMTIGTFGFWAAYLAGGDTVYLANFTLPDSE
                     FLKIFKPEAAFLPEWVGINADLSPLWTLAKP"
     regulatory      3405..3410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FUT1"
                     /gene_synonym="H; HH; HSC"
                     /note="hexamer: ATTAAA"
     polyA_site      3425
                     /gene="FUT1"
                     /gene_synonym="H; HH; HSC"
                     /note="major polyA site"
ORIGIN      
        1 agtccggaca ggctgcgcgg aggggagggc tgccgggccg gatagccgga cgcctggcgt
       61 tccaggggcg gccggatgtg gcctgccttt gcggagggtg cgctccggcc acgaaaagcg
      121 gactgtggat ctgccacctg caagcagctc ggccatgtgg ctccggagcc atcgtcagct
      181 ctgcctggcc ttcctgctag tctgtgtcct ctctgtaatc ttcttcctcc atatccatca
      241 agacagcttt ccacatggcc taggcctgtc gatcctgtgt ccagaccgcc gcctggtgac
      301 acccccagtg gccatcttct gcctgccggg tactgcgatg ggccccaacg cctcctcttc
      361 ctgtccccag caccctgctt ccctctccgg cacctggact gtctacccca atggccggtt
      421 tggtaatcag atgggacagt atgccacgct gctggctctg gcccagctca acggccgccg
      481 ggcctttatc ctgcctgcca tgcatgccgc cctggccccg gtattccgca tcaccctgcc
      541 cgtgctggcc ccagaagtgg acagccgcac gccgtggcgg gagctgcagc ttcacgactg
      601 gatgtcggag gagtacgcgg acttgagaga tcctttcctg aagctctctg gcttcccctg
      661 ctcttggact ttcttccacc atctccggga acagatccgc agagagttca ccctgcacga
      721 ccaccttcgg gaagaggcgc agagtgtgct gggtcagctc cgcctgggcc gcacagggga
      781 ccgcccgcgc acctttgtcg gcgtccacgt gcgccgtggg gactatctgc aggttatgcc
      841 tcagcgctgg aagggtgtgg tgggcgacag cgcctacctc cggcaggcca tggactggtt
      901 ccgggcacgg cacgaagccc ccgttttcgt ggtcaccagc aacggcatgg agtggtgtaa
      961 agaaaacatc gacacctccc agggcgatgt gacgtttgct ggcgatggac aggaggctac
     1021 accgtggaaa gactttgccc tgctcacaca gtgcaaccac accattatga ccattggcac
     1081 cttcggcttc tgggctgcct acctggctgg cggagacact gtctacctgg ccaacttcac
     1141 cctgccagac tctgagttcc tgaagatctt taagccggag gcggccttcc tgcccgagtg
     1201 ggtgggcatt aatgcagact tgtctccact ctggacattg gctaagcctt gagagccagg
     1261 gagactttct gaagtagcct gatctttcta gagccagcag tacgtggctt cagaggcctg
     1321 gcatcttctg gagaagcttg tggtgttcct gaagcaaatg ggtgcccgta tccagagtga
     1381 ttctagttgg gagagttgga gagaaggggg acgtttctgg aactgtctga atattctaga
     1441 actagcaaaa catcttttcc tgatggctgg caggcagttc tagaagccac agtgcccacc
     1501 tgctcttccc agcccatatc tacagtactt ccagatggct gcccccagga atggggaact
     1561 ctccctctgg tctactctag aagaggggtt acttctcccc tgggtcctcc aaagactgaa
     1621 ggagcatatg attgctccag agcaagcatt caccaagtcc ccttctgtgt ttctggagtg
     1681 attctagagg gagacttgtt ctagagagga ccaggtttga tgcctgtgaa gaaccctgca
     1741 gggcccttat ggacaggatg gggttctgga aatccagata actaaggtga agaatctttt
     1801 tagttttttt tttttttttt tggagacagg gtctcgctct gttgcccagg ctggagtgca
     1861 gtggcgtgat cttggctcac tgcaacttcc gcctcctgtg ttcaagcgat tctcctgtct
     1921 cagcctcctg agtagatggg actacaggca caggccatta tgcctggcta atttttgtat
     1981 ttttagtaga gacagggttt caccatgttg gccaggatgg tctcgatctc ctgaccttgt
     2041 catccacctg tcttggcctc ccaaagtgct gggattactg gcatgagcca ctgtgcccag
     2101 cccggatatt ttttttttaa ttatttattt atttatttat ttattgagac ggagtcttgc
     2161 tctgtagccc aggccagagt gcagtggcgc gatctcagct cactgcaagc tctgcctccc
     2221 gggttcatgc cattctgcct cagcctcctg agtagctggg actacaggcg cccgccacca
     2281 cgcccggcta attttttttg tatttttagt agagacgggg tttcatcgtg ttaaccagga
     2341 tggtctcgat ctcctgacct cgtgatctgc ccacctcggc ctcccacagt gctgggatta
     2401 ccggcgtgag ccaccatgcc tggcccggat aatttttttt aatttttgta gagacgaggt
     2461 cttgtgatat tgcccaggct gttcttcaac tcctgggctc aagcagtcct cccaccttgg
     2521 cctcccagaa tgctgggttt atagatgtga gccagcacac cgggccaagt gaagaatcta
     2581 atgaatgtgc aacctaattg tagcatctaa tgaatgttcc accattgctg gaaaaattga
     2641 gatggaaaac aaaccatctc tagttggcca gcgtcttgct ctgttcacag tctctggaaa
     2701 agctggggta gttggtgagc agagcgggac tctgtccaac aagccccaca gcccctcaaa
     2761 gacttttttt tgtttgtttt gagcagacag gctaaaatgt gaacgtgggg tgagggatca
     2821 ctgccaaaat ggtacagctt ctggagcaga actttccagg gatccaggga cacttttttt
     2881 taaagctcat aaactgccaa gagctccata tattgggtgt gagttcaggt tgcctctcac
     2941 aatgaaggaa gttggtcttt gtctgcaggt gggctgctga gggtctggga tctgttttct
     3001 ggaagtgtgc aggtataaac acaccctctg tgcttgtgac aaactggcag gtaccgtgct
     3061 cattgctaac cactgtctgt ccctgaactc ccagaaccac tacatctggc tttgggcagg
     3121 tctgagataa aacgatctaa aggtaggcag accctggacc cagcctcaga tccaggcagg
     3181 agcacgaggt ctggccaagg tggacggggt tgtcgagatc tcaggagccc cttgctgttt
     3241 tttggagggt gaaagaagaa accttaaaca tagtcagctc tgatcacatc ccctgtctac
     3301 tcatccagac cccatgcctg taggcttatc agggagttac agttacaatt gttacagtac
     3361 tgttcccaac tcagctgcca cgggtgagag agcaggaggt atgaattaaa agtctacagc
     3421 actaa
//
