LOCUS       NM_000147               2043 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens alpha-L-fucosidase 1 (FUCA1), transcript variant 1,
            mRNA.
ACCESSION   NM_000147
VERSION     NM_000147.5
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 2043)
  AUTHORS   Wang,X., Dou,J., Liu,M., Zhang,Y., Li,Y. and Tong,Z.
  TITLE     Potential predictive value of immune-related genes FUCA1 and
            NCKAP1L for osteosarcoma metastasis
  JOURNAL   Gene 927, 148645 (2024)
   PUBMED   38844271
  REMARK    GeneRIF: Potential predictive value of immune-related genes FUCA1
            and NCKAP1L for osteosarcoma metastasis.
REFERENCE   2  (bases 1 to 2043)
  AUTHORS   do Rosario,M.C., Purushothama,G., Narayanan,D.L., Siddiqui,S.,
            Girisha,K.M. and Shukla,A.
  TITLE     Extended analysis of exome sequencing data reveals a novel
            homozygous deletion of exons 3 and 4 in FUCA1 gene causing
            fucosidosis in an Indian family
  JOURNAL   Clin Dysmorphol 32 (3), 112-115 (2023)
   PUBMED   36876340
  REMARK    GeneRIF: Extended analysis of exome sequencing data reveals a novel
            homozygous deletion of exons 3 and 4 in FUCA1 gene causing
            fucosidosis in an Indian family.
REFERENCE   3  (bases 1 to 2043)
  AUTHORS   Barelier,S. and Sulzenbacher,G.
  TITLE     The long-awaited structure of human fucosidase FucA1 opens novel
            avenues for the treatment of fucosidosis
  JOURNAL   Structure 30 (10), 1369-1371 (2022)
   PUBMED   36206736
  REMARK    GeneRIF: The long-awaited structure of human fucosidase FucA1 opens
            novel avenues for the treatment of fucosidosis.
REFERENCE   4  (bases 1 to 2043)
  AUTHORS   Armstrong,Z., Meek,R.W., Wu,L., Blaza,J.N. and Davies,G.J.
  TITLE     Cryo-EM structures of human fucosidase FucA1 reveal insight into
            substrate recognition and catalysis
  JOURNAL   Structure 30 (10), 1443-1451 (2022)
   PUBMED   35907402
  REMARK    GeneRIF: Cryo-EM structures of human fucosidase FucA1 reveal
            insight into substrate recognition and catalysis.
REFERENCE   5  (bases 1 to 2043)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   6  (bases 1 to 2043)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 2043)
  AUTHORS   Yang,M., Allen,H. and DiCioccio,R.A.
  TITLE     A mutation generating a stop codon in the alpha-L-fucosidase gene
            of a fucosidosis patient
  JOURNAL   Biochem Biophys Res Commun 189 (2), 1063-1068 (1992)
   PUBMED   1281988
REFERENCE   8  (bases 1 to 2043)
  AUTHORS   Willems,P.J., Gatti,R., Darby,J.K., Romeo,G., Durand,P., Dumon,J.E.
            and O'Brien,J.S.
  TITLE     Fucosidosis revisited: a review of 77 patients
  JOURNAL   Am J Med Genet 38 (1), 111-131 (1991)
   PUBMED   2012122
  REMARK    Review article
REFERENCE   9  (bases 1 to 2043)
  AUTHORS   Fukushima,H., Nishimoto,J. and Okada,S.
  TITLE     Sequencing and expression of a full-length cDNA for human
            alpha-L-fucosidase
  JOURNAL   J Inherit Metab Dis 13 (5), 761-765 (1990)
   PUBMED   2174090
REFERENCE   10 (bases 1 to 2043)
  AUTHORS   Kretz,K.A., Darby,J.K., Willems,P.J. and O'Brien,J.S.
  TITLE     Characterization of EcoRI mutation in fucosidosis patients: a stop
            codon in the open reading frame
  JOURNAL   J Mol Neurosci 1 (3), 177-180 (1989)
   PUBMED   2642067
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC397571.1 and BC017338.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_000147.4.
            
            Summary: The protein encoded by this gene is a lysosomal enzyme
            involved in the degradation of fucose-containing glycoproteins and
            glycolipids. Mutations in this gene are associated with fucosidosis
            (FUCA1D), which is an autosomal recessive lysosomal storage
            disease. A pseudogene of this locus is present on chr 2.[provided
            by RefSeq, Oct 2009].
            
            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 :: BC017338.2, AB074175.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2156266
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374479.4/ ENSP00000363603.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-484               DC397571.1         91-574
            485-2043            BC017338.2         487-2045
FEATURES             Location/Qualifiers
     source          1..2043
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..2043
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /note="alpha-L-fucosidase 1"
                     /db_xref="GeneID:2517"
                     /db_xref="HGNC:HGNC:4006"
                     /db_xref="MIM:612280"
     exon            1..393
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /inference="alignment:Splign:2.1.0"
     CDS             5..1405
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /EC_number="3.2.1.51"
                     /note="tissue alpha-L-fucosidase; alpha-L-fucosidase I;
                     fucosidase, alpha-L- 1, tissue; tissue fucosidase;
                     a-L-fucosidase 1; I+/--L-fucosidase 1; alpha-L-fucoside
                     fucohydrolase 1"
                     /codon_start=1
                     /product="tissue alpha-L-fucosidase precursor"
                     /protein_id="NP_000138.2"
                     /db_xref="CCDS:CCDS244.2"
                     /db_xref="GeneID:2517"
                     /db_xref="HGNC:HGNC:4006"
                     /db_xref="MIM:612280"
                     /translation="MRAPGMRSRPAGPALLLLLLFLGAAESVRRAQPPRRYTPDWPSL
                     DSRPLPAWFDEAKFGVFIHWGVFSVPAWGSEWFWWHWQGEGRPQYQRFMRDNYPPGFS
                     YADFGPQFTARFFHPEEWADLFQAAGAKYVVLTTKHHEGFTNWPSPVSWNWNSKDVGP
                     HRDLVGELGTALRKRNIRYGLYHSLLEWFHPLYLLDKKNGFKTQHFVSAKTMPELYDL
                     VNSYKPDLIWSDGEWECPDTYWNSTNFLSWLYNDSPVKDEVVVNDRWGQNCSCHHGGY
                     YNCEDKFKPQSLPDHKWEMCTSIDKFSWGYRRDMALSDVTEESEIISELVQTVSLGGN
                     YLLNIGPTKDGLIVPIFQERLLAVGKWLSINGEAIYASKPWRVQWEKNTTSVWYTSKG
                     SAVYAIFLHWPENGVLNLESPITTSTTKITMLGIQGDLKWSTDPDKGLFISLPQLPPS
                     AVPAEFAWTIKLTGVK"
     exon            394..528
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /inference="alignment:Splign:2.1.0"
     exon            529..666
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /inference="alignment:Splign:2.1.0"
     exon            667..772
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /inference="alignment:Splign:2.1.0"
     exon            773..973
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1164
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1264
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..2043
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2003..2008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /note="hexamer: AATAAA"
     polyA_site      2043
                     /gene="FUCA1"
                     /gene_synonym="FUCA"
                     /note="major polyA site"
ORIGIN      
        1 agcgatgcgg gctccgggga tgaggtcgcg gccggcgggt cccgcgctgt tgctgctgct
       61 gctcttcctc ggagcggccg agtcggtgcg tcgggcccag cctccgcgcc gctacacccc
      121 agactggccg agcctggatt ctcggccgct gccggcctgg ttcgacgaag ccaagttcgg
      181 ggtgttcatc cactggggcg tgttctcggt gcccgcctgg ggcagcgagt ggttctggtg
      241 gcactggcag ggcgaggggc ggccgcagta ccagcgcttc atgcgcgaca actacccgcc
      301 cggcttcagc tacgccgact tcggaccgca gttcactgcg cgcttcttcc acccggagga
      361 gtgggccgac ctcttccagg ccgcgggcgc caagtatgta gttttgacga caaagcatca
      421 cgaaggcttc acaaactggc cgagtcctgt gtcttggaac tggaactcca aagacgtggg
      481 gcctcatcgg gatttggttg gtgaattggg aacagctctc cggaagagga acatccgcta
      541 tggactatac cactcactct tagagtggtt ccatccactc tatctacttg ataagaaaaa
      601 tggcttcaaa acacagcatt ttgtcagtgc aaaaacaatg ccagagctgt acgaccttgt
      661 taacagctat aaacctgatc tgatctggtc tgatggggag tgggaatgtc ctgatactta
      721 ctggaactcc acaaattttc tttcatggct ctacaatgac agccctgtca aggatgaggt
      781 ggtagtaaat gaccgatggg gtcagaactg ttcctgtcac catggaggat actataactg
      841 tgaagataaa ttcaagccac agagcttgcc agatcacaag tgggagatgt gcaccagcat
      901 tgacaagttt tcctggggct atcgtcgtga catggcattg tctgatgtta cagaagaatc
      961 tgaaatcatt tcggaactgg ttcagacagt aagtttggga ggcaactatc ttctgaacat
     1021 tggaccaact aaagatggac tgattgttcc catcttccaa gaaaggcttc ttgctgttgg
     1081 gaaatggctg agcatcaatg gggaggctat ctatgcctcc aaaccatggc gggtgcaatg
     1141 ggaaaagaac acaacatctg tatggtatac ctcaaaggga tcggctgttt atgccatttt
     1201 tctgcactgg ccagaaaatg gagtcttaaa ccttgaatcc cccataacta cctcaactac
     1261 aaagataaca atgctgggaa ttcaaggaga tctgaagtgg tccacagatc cagataaagg
     1321 tctcttcatc tctctacccc agttgccacc ctctgctgtc cccgcagagt ttgcttggac
     1381 tataaagctg acaggagtga agtaatcatt tgagtgcaag aagaaagagg cgctgctcac
     1441 tgttttcctg cttcagtttt tctcttatag taccatcact ataatcaacg aacttctctt
     1501 ctccacccag agatggcttt tccaacacat tttaattaaa ggaactgagt acattaccct
     1561 gatgtctaaa tggaccaaag atctgagatc cattgtgatt atatctgtat caggtcagca
     1621 gaagaaggaa ctgagcagtt gaactctgag ttcatcaatt gtaatatttg gaaattatct
     1681 acaatggaat cttccctctg ttctctgata acctacttgc ttactcaatg cctttaagcc
     1741 aagtcaccct gttgcctatg ggaggaggtg gaaggatttg gcaagctcaa ccacatgcta
     1801 tttagttagc atcagttgtc accaacagtc tttctgcaaa gggcaggaga gctttggggg
     1861 aaaggaaaag gcttaccagg ctgctatggt caactcttca gaaattttca gagcaatcta
     1921 aaagcgccaa aattcgctat gtttacagtg atactattaa gaaaatgaat gtgattctgc
     1981 tctgtctttt taagtatgat caaataaaaa atttgtacat cacaatcatt tctaccaaaa
     2041 aaa
//
