LOCUS       NM_133635               2861 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript
            variant 3, mRNA.
ACCESSION   NM_133635
VERSION     NM_133635.6
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 2861)
  AUTHORS   Sanz-Martinez,I., Garcia-Garcia,A., Tejero,T., Hurtado-Guerrero,R.
            and Merino,P.
  TITLE     The Essential Role of Water Molecules in the Reaction Mechanism of
            Protein O-Fucosyltransferase 2
  JOURNAL   Angew Chem Int Ed Engl 61 (48), e202213610 (2022)
   PUBMED   36260536
  REMARK    GeneRIF: The Essential Role of Water Molecules in the Reaction
            Mechanism of Protein O-Fucosyltransferase 2.
REFERENCE   2  (bases 1 to 2861)
  AUTHORS   Mueller,T.M., Yates,S.D., Haroutunian,V. and Meador-Woodruff,J.H.
  TITLE     Altered fucosyltransferase expression in the superior temporal
            gyrus of elderly patients with schizophrenia
  JOURNAL   Schizophr Res 182, 66-73 (2017)
   PUBMED   27773385
  REMARK    GeneRIF: This study demonstrated that the alteration of POFUT2
            expression in the superior temporal gyrus of elderly patients with
            schizophrenia.
REFERENCE   3  (bases 1 to 2861)
  AUTHORS   Vasudevan,D., Takeuchi,H., Johar,S.S., Majerus,E. and
            Haltiwanger,R.S.
  TITLE     Peters plus syndrome mutations disrupt a noncanonical ER
            quality-control mechanism
  JOURNAL   Curr Biol 25 (3), 286-295 (2015)
   PUBMED   25544610
  REMARK    GeneRIF: POFUT2 and B3GLCT mediate a noncanonical endoplasmic
            reticulum quality-control mechanism that recognizes folded
            thrombospondin type 1 repeats and stabilizes them by glycosylation.
REFERENCE   4  (bases 1 to 2861)
  AUTHORS   Chen,C.I., Keusch,J.J., Klein,D., Hess,D., Hofsteenge,J. and Gut,H.
  TITLE     Structure of human POFUT2: insights into thrombospondin type 1
            repeat fold and O-fucosylation
  JOURNAL   EMBO J 31 (14), 3183-3197 (2012)
   PUBMED   22588082
  REMARK    GeneRIF: Structure of human POFUT2: insights into thrombospondin
            type 1 repeat fold and O-fucosylation.
REFERENCE   5  (bases 1 to 2861)
  AUTHORS   Feng,T. and Zhu,X.
  TITLE     Genome-wide searching of rare genetic variants in WTCCC data
  JOURNAL   Hum Genet 128 (3), 269-280 (2010)
   PUBMED   20549515
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   6  (bases 1 to 2861)
  AUTHORS   Ricketts,L.M., Dlugosz,M., Luther,K.B., Haltiwanger,R.S. and
            Majerus,E.M.
  TITLE     O-fucosylation is required for ADAMTS13 secretion
  JOURNAL   J Biol Chem 282 (23), 17014-17023 (2007)
   PUBMED   17395589
REFERENCE   7  (bases 1 to 2861)
  AUTHORS   Luo,Y., Nita-Lazar,A. and Haltiwanger,R.S.
  TITLE     Two distinct pathways for O-fucosylation of epidermal growth
            factor-like or thrombospondin type 1 repeats
  JOURNAL   J Biol Chem 281 (14), 9385-9392 (2006)
   PUBMED   16464858
REFERENCE   8  (bases 1 to 2861)
  AUTHORS   Luo,Y., Koles,K., Vorndam,W., Haltiwanger,R.S. and Panin,V.M.
  TITLE     Protein O-fucosyltransferase 2 adds O-fucose to thrombospondin type
            1 repeats
  JOURNAL   J Biol Chem 281 (14), 9393-9399 (2006)
   PUBMED   16464857
REFERENCE   9  (bases 1 to 2861)
  AUTHORS   Menzel,O., Vellai,T., Takacs-Vellai,K., Reymond,A., Mueller,F.,
            Antonarakis,S.E. and Guipponi,M.
  TITLE     The Caenorhabditis elegans ortholog of C21orf80, a potential new
            protein O-fucosyltransferase, is required for normal development
  JOURNAL   Genomics 84 (2), 320-330 (2004)
   PUBMED   15233996
REFERENCE   10 (bases 1 to 2861)
  AUTHORS   Martinez-Duncker,I., Mollicone,R., Candelier,J.J., Breton,C. and
            Oriol,R.
  TITLE     A new superfamily of protein-O-fucosyltransferases,
            alpha2-fucosyltransferases, and alpha6-fucosyltransferases:
            phylogeny and identification of conserved peptide motifs
  JOURNAL   Glycobiology 13 (12), 1C-5C (2003)
   PUBMED   12966037
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI560842.1, AB023175.1, BC064623.1 and CA425603.1.
            
            On Jun 2, 2019 this sequence version replaced NM_133635.5.
            
            Summary: Fucose is typically found as a terminal modification of
            branched chain glycoconjugates, but it also exists in direct
            O-linkage to serine or threonine residues within cystine knot
            motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or
            thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an
            O-fucosyltransferase that use THBS type-1 repeats as substrates
            (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (3) differs in the 3' UTR and
            coding region compared to variant 1. The resulting isoform (C) is
            longer and differs in the C-terminus compared to isoform A.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC064623.1, AY066015.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000349485.10/ ENSP00000339613.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                BI560842.1         4-13
            11-17               AB023175.1         1-7
            18-2856             BC064623.1         1-2839
            2857-2861           CA425603.1         25-29               c
FEATURES             Location/Qualifiers
     source          1..2861
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2861
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /note="protein O-fucosyltransferase 2"
                     /db_xref="GeneID:23275"
                     /db_xref="HGNC:HGNC:14683"
                     /db_xref="MIM:610249"
     exon            1..155
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..1314
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /EC_number="2.4.1.221"
                     /note="isoform C precursor is encoded by transcript
                     variant 3; GDP-fucose protein O-fucosyltransferase 2;
                     O-FucT-2; peptide-O-fucosyltransferase 2"
                     /codon_start=1
                     /product="GDP-fucose protein O-fucosyltransferase 2
                     isoform C precursor"
                     /protein_id="NP_598368.2"
                     /db_xref="CCDS:CCDS13719.1"
                     /db_xref="GeneID:23275"
                     /db_xref="HGNC:HGNC:14683"
                     /db_xref="MIM:610249"
                     /translation="MATLSFVFLLLGAVSWPPASASGQEFWPGQSAADILSGAASRRR
                     YLLYDVNPPEGFNLRRDVYIRIASLLKTLLKTEEWVLVLPPWGRLYHWQSPDIHQVRI
                     PWSEFFDLPSLNKNIPVIEYEQFIAESGGPFIDQVYVLQSYAEGWKEGTWEEKVDERP
                     CIDQLLYSQDKHEYYRGWFWGYEETRGLNVSCLSVQGSASIVAPLLLRNTSARSVMLD
                     RAENLLHDHYGGKEYWDTRRSMVFARHLREVGDEFRSRHLNSTDDADRIPFQEDWMKM
                     KVKLGSALGGPYLGVHLRRKDFIWGHRQDVPSLEGAVRKIRSLMKTHRLDKVFVATDA
                     VRKEYEELKKLLPEMVRFEPTWEELELYKDGGVAIIDQWICAHARFFIGTSVSTFSFR
                     IHEEREILGLDPKTTYNRFCGDQEKACEQPTHWKITY"
     exon            156..406
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /inference="alignment:Splign:2.1.0"
     exon            407..551
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /inference="alignment:Splign:2.1.0"
     exon            552..662
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /inference="alignment:Splign:2.1.0"
     exon            663..729
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /inference="alignment:Splign:2.1.0"
     exon            730..855
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /inference="alignment:Splign:2.1.0"
     exon            856..1036
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1160
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..2861
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2843..2848
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /note="hexamer: AATAAA"
     polyA_site      2861
                     /gene="POFUT2"
                     /gene_synonym="C21orf80; FUT13"
                     /note="major polyA site"
ORIGIN      
        1 ggaagtgcgt ggccgcccgg ggccatggcg acactcagct tcgtcttcct gctgctgggg
       61 gcagtgtcct ggcctccggc ttctgcctcc ggccaggagt tctggcccgg acaatcggcg
      121 gccgatattc tgtcgggggc ggcttcccgc agacggtatc ttctgtatga cgtcaacccc
      181 ccggaaggct tcaacctgcg cagggatgtc tatatccgaa tcgcctctct cctgaagact
      241 ctgctgaaga cggaggagtg ggtgcttgtc ctgcctccat ggggccgcct ctatcactgg
      301 cagagtcctg acatccacca ggtccggatt ccctggtctg agttttttga tcttccaagt
      361 ctcaataaaa acatccccgt catcgagtat gagcagttca tcgcagaatc tggtgggccc
      421 tttattgacc aggtttacgt cctgcaaagt tacgcagagg ggtggaaaga agggacctgg
      481 gaagagaagg tggacgagcg gccgtgtatt gatcagctcc tgtactccca ggacaagcac
      541 gagtactaca gaggatggtt ttggggttat gaggagacca ggggtctaaa cgtctcctgt
      601 ctgtccgtcc agggctcagc ctccatcgtg gcgcccctgc tgctgagaaa cacatcagcc
      661 cggtccgtga tgttagacag agccgagaac ctacttcacg accactatgg agggaaagaa
      721 tactgggata cccgtcgcag catggtgttt gccaggcacc tgcgggaggt gggagacgag
      781 ttcaggagca gacatctcaa ctccacggac gacgcagaca ggatcccctt ccaggaggac
      841 tggatgaaga tgaaggtcaa gctgggctcc gcgctagggg gcccctacct gggagtccac
      901 ctgagaagaa aagatttcat ctggggtcac agacaggatg tacccagtct ggaaggggcc
      961 gtgaggaaga tccgcagcct catgaagacc caccggctgg acaaggtgtt tgtggccaca
     1021 gatgccgtca gaaaggaata tgaagagcta aaaaagctgt tacccgagat ggtgaggttt
     1081 gaacccacgt gggaggagct ggagctctac aaggacggag gcgttgcgat tattgaccag
     1141 tggatctgcg cacacgccag gttttttatt ggcacctcag tctcaacatt ttcttttcgg
     1201 attcatgagg aaagagaaat cctggggttg gaccccaaga cgacgtacaa caggttctgc
     1261 ggagaccaag agaaggcgtg tgagcaaccc acccactgga agatcaccta ctgaggagga
     1321 tcctccaggg ccgctccccg gacccgacag gcgcgggtgg atgcaggttc tgtcgccgtg
     1381 gagtcaccgt ctactgccag ccgggagctg ggcggacagg accgtccctc gcagggtccc
     1441 aggcccagaa gaggccccac gcctctagag ctgggctccg tcctcggcgt tgccagccgc
     1501 catggctgat gaagaggctc cgctgctctc gggggtggcg gttgttttca ggcagcgtct
     1561 gtgaacccac agctcggttg ccagcagtgc ccgcgtggtg acccagaagc aggagtgttt
     1621 gtcaggctcc cgctctggcc tttccagcca cctttcatgt cttcatattt taagtgcatt
     1681 gaggatagat gcaggcgggt gagctgccct ccgtcaggtg gacccgggct gacatttccc
     1741 tgggagctgg tgcaaggaga agcgtcattt taaatgtctg cagagcgacc aggggcctca
     1801 tgaatctctc cgttgccctc cgcgcagcag gaggctgcct gtgtgtttcc tcctgggatg
     1861 cgtgcaaggc agacctggtg ctgcaaagga aagggcctga ggcctcaggg agccccgtgg
     1921 agggatgaca gttcaggccc tactgctggc acgtcagagc actgggaagt ttttcagtga
     1981 cgtctctggg gcactcagtg gattgtctgt aggaaacttg cagctctgct cctcacacca
     2041 ggcccggctg gccacccacc ctcgccccca ctggccaccc ctccctcgcc ccgactgccc
     2101 cgccccaccc tcaccccgac tgccccgccc tcgcccggct ggccgtccct gccctcgccc
     2161 cggctggcag gtgcacatgg ggcctccagg tctgccattc gctattgaga actagaaatg
     2221 aggaaggaca gttacgctaa ctccaaaagg ctgtctagga tgagctgctt tatcagggag
     2281 ctccttgtac ccattttaca gaaatcattt ttaggtcttt gtgccaccac cacgaggggc
     2341 atctgcaaag agggcaacgc tagacacaga atccgtggaa ggtgcagcag tgcctcaggg
     2401 gtcctcaggg tcagggagcc cccctcaccc tcttggcccg ttaccctttg tgactttcca
     2461 ccatggtgtc gtgtgaccct cagtcaggtt ggtgggggct gagtcctcac tgagcagcca
     2521 ctttccacat ctgctagagg aacagtgaca tggacacctg tgacagagag aggacagtta
     2581 ggagggacag acagctcttc ctttcggagc ctggctagtc taggacatca ccttgctgtg
     2641 tcttctcaag cttttaaaat tgaccctgaa cgtgtgacag ggtcctatgg tgttactcaa
     2701 agctgtgcag ggtaaatgat gacatattta ttctttttcc atttgttcta gaaacagtgc
     2761 ctttttcatc agttgcattt tccaggctga gagctgtata aaacattttg gactgtgacc
     2821 atgtaccttc ctttttaaga aaaataaact gctttatgga a
//
