LOCUS       NM_014254               1854 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens ribitol xylosyltransferase 1 (RXYLT1), transcript
            variant 1, mRNA.
ACCESSION   NM_014254
VERSION     NM_014254.3
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 1854)
  AUTHORS   Jung,E.E. and Nagiel,A.
  TITLE     RETINAL MANIFESTATIONS OF WALKER-WARBURG SYNDROME IN TWO SIBLINGS
            WITH RXYLT1 MUTATIONS
  JOURNAL   Retin Cases Brief Rep 18 (1), 6-10 (2024)
   PUBMED   36007194
  REMARK    GeneRIF: RETINAL MANIFESTATIONS OF WALKER-WARBURG SYNDROME IN TWO
            SIBLINGS WITH RXYLT1 MUTATIONS.
REFERENCE   2  (bases 1 to 1854)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1854)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1854)
  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   5  (bases 1 to 1854)
  AUTHORS   Nishihara,R., Kobayashi,K., Imae,R., Tsumoto,H., Manya,H.,
            Mizuno,M., Kanagawa,M., Endo,T. and Toda,T.
  TITLE     Cell endogenous activities of fukutin and FKRP coexist with the
            ribitol xylosyltransferase, TMEM5
  JOURNAL   Biochem Biophys Res Commun 497 (4), 1025-1030 (2018)
   PUBMED   29477842
  REMARK    GeneRIF: Fukutin, FKRP, and TMEM5 form a complex while maintaining
            each of their enzyme activities.  Data showed that endogenous
            fukutin and FKRP enzyme activities coexist with TMEM5 enzyme
            activity, and suggest the possibility that formation of this enzyme
            complex may contribute to specific and prompt biosynthesis of
            glycans that are required for dystroglycan function.
REFERENCE   6  (bases 1 to 1854)
  AUTHORS   Praissman,J.L., Willer,T., Sheikh,M.O., Toi,A., Chitayat,D.,
            Lin,Y.Y., Lee,H., Stalnaker,S.H., Wang,S., Prabhakar,P.K.,
            Nelson,S.F., Stemple,D.L., Moore,S.A., Moremen,K.W., Campbell,K.P.
            and Wells,L.
  TITLE     The functional O-mannose glycan on alpha-dystroglycan contains a
            phospho-ribitol primed for matriglycan addition
  JOURNAL   Elife 5, e14473 (2016)
   PUBMED   27130732
  REMARK    GeneRIF: TMEM5 is a UDP-xylosyl transferase that elaborates the
            O-mannose glycan structure on alpha-dystroglycan. The authors
            demonstrate in a zebrafish model as well as in a human patient that
            defects in TMEM5 result in muscular dystrophy in combination with
            abnormal brain development.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1854)
  AUTHORS   Willer,T., Inamori,K., Venzke,D., Harvey,C., Morgensen,G., Hara,Y.,
            Beltran Valero de Bernabe,D., Yu,L., Wright,K.M. and Campbell,K.P.
  TITLE     The glucuronyltransferase B4GAT1 is required for initiation of
            LARGE-mediated alpha-dystroglycan functional glycosylation
  JOURNAL   Elife 3, e03941 (2014)
   PUBMED   25279699
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1854)
  AUTHORS   Jae,L.T., Raaben,M., Riemersma,M., van Beusekom,E., Blomen,V.A.,
            Velds,A., Kerkhoven,R.M., Carette,J.E., Topaloglu,H., Meinecke,P.,
            Wessels,M.W., Lefeber,D.J., Whelan,S.P., van Bokhoven,H. and
            Brummelkamp,T.R.
  TITLE     Deciphering the glycosylome of dystroglycanopathies using haploid
            screens for lassa virus entry
  JOURNAL   Science 340 (6131), 479-483 (2013)
   PUBMED   23519211
REFERENCE   9  (bases 1 to 1854)
  AUTHORS   Vuillaumier-Barrot,S., Bouchet-Seraphin,C., Chelbi,M., Devisme,L.,
            Quentin,S., Gazal,S., Laquerriere,A., Fallet-Bianco,C., Loget,P.,
            Odent,S., Carles,D., Bazin,A., Aziza,J., Clemenson,A., Guimiot,F.,
            Bonniere,M., Monnot,S., Bole-Feysot,C., Bernard,J.P., Loeuillet,L.,
            Gonzales,M., Socha,K., Grandchamp,B., Attie-Bitach,T.,
            Encha-Razavi,F. and Seta,N.
  TITLE     Identification of mutations in TMEM5 and ISPD as a cause of severe
            cobblestone lissencephaly
  JOURNAL   Am J Hum Genet 91 (6), 1135-1143 (2012)
   PUBMED   23217329
  REMARK    GeneRIF: TMEM5 mutations were frequently associated with gonadal
            dysgenesis and neural tube defects, and ISPD mutations were
            frequently associated with brain vascular anomalies.
REFERENCE   10 (bases 1 to 1854)
  AUTHORS   Yokoyama-Kobayashi,M., Yamaguchi,T., Sekine,S. and Kato,S.
  TITLE     Selection of cDNAs encoding putative type II membrane proteins on
            the cell surface from a human full-length cDNA bank
  JOURNAL   Gene 228 (1-2), 161-167 (1999)
   PUBMED   10072769
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002596.2, AK289382.1,
            AI458269.1 and AC084357.23.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_014254.2.
            
            Summary: This gene encodes a type II transmembrane protein that is
            thought to have glycosyltransferase function. Mutations in this
            gene result in cobblestone lissencephaly. Alternative splicing
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, May 2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK289382.1, DRR138512.443541.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261234.11/ ENSP00000261234.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1267              BC002596.2         38-1304
            1268-1582           AK289382.1         1268-1582
            1583-1850           AI458269.1         8-275               c
            1851-1854           AC084357.23        48844-48847         c
FEATURES             Location/Qualifiers
     source          1..1854
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.2"
     gene            1..1854
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /note="ribitol xylosyltransferase 1"
                     /db_xref="GeneID:10329"
                     /db_xref="HGNC:HGNC:13530"
                     /db_xref="MIM:605862"
     exon            1..221
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /inference="alignment:Splign:2.1.0"
     CDS             53..1384
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /EC_number="2.4.2.61"
                     /note="isoform 1 is encoded by transcript variant 1; type
                     II membrane protein; UDP-D-xylose:ribitol-5-phosphate
                     beta1,4-xylosyltransferase; transmembrane protein 5;
                     ribitol-5-phosphate xylosyltransferase 1"
                     /codon_start=1
                     /product="ribitol-5-phosphate xylosyltransferase 1 isoform
                     1"
                     /protein_id="NP_055069.1"
                     /db_xref="CCDS:CCDS8966.1"
                     /db_xref="GeneID:10329"
                     /db_xref="HGNC:HGNC:13530"
                     /db_xref="MIM:605862"
                     /translation="MRLTRKRLCSFLIALYCLFSLYAAYHVFFGRRRQAPAGSPRGLR
                     KGAAPARERRGREQSTLESEEWNPWEGDEKNEQQHRFKTSLQILDKSTKGKTDLSVQI
                     WGKAAIGLYLWEHIFEGLLDPSDVTAQWREGKSIVGRTQYSFITGPAVIPGYFSVDVN
                     NVVLILNGREKAKIFYATQWLLYAQNLVQIQKLQHLAVVLLGNEHCDNEWINPFLKRN
                     GGFVELLFIIYDSPWINDVDVFQWPLGVATYRNFPVVEASWSMLHDERPYLCNFLGTI
                     YENSSRQALMNILKKDGNDKLCWVSAREHWQPQETNESLKNYQDALLQSDLTLCPVGV
                     NTECYRIYEACSYGSIPVVEDVMTAGNCGNTSVHHGAPLQLLKSMGAPFIFIKNWKEL
                     PAVLEKEKTIILQEKIERRKMLLQWYQHFKTELKMKFTNILESSFLMNNKS"
     exon            222..377
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /inference="alignment:Splign:2.1.0"
     exon            378..480
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /inference="alignment:Splign:2.1.0"
     exon            481..795
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /inference="alignment:Splign:2.1.0"
     exon            796..966
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1854
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1373..1378
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /note="hexamer: AATAAA"
     polyA_site      1401
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /note="major polyA site"
     regulatory      1745..1750
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /note="hexamer: AATAAA"
     polyA_site      1769
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
     regulatory      1824..1829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
                     /note="hexamer: AATAAA"
     polyA_site      1854
                     /gene="RXYLT1"
                     /gene_synonym="HP10481; MDDGA10; TMEM5"
ORIGIN      
        1 ctctttccgc ccgctccatg gcggtggatg cctgactgga agcccgagtg ggatgcggct
       61 gacgcggaag cggctctgct cgtttcttat cgccctgtac tgcctattct ccctctacgc
      121 tgcctaccac gtcttcttcg ggcgccgccg ccaggcgccg gccgggtccc cgcggggcct
      181 caggaagggg gcggcccccg cgcgggagag acgcggccga gaacagtcca ctttggaaag
      241 tgaagaatgg aatccttggg aaggagatga aaaaaatgag caacaacaca gatttaaaac
      301 tagccttcaa atattagata aatccacgaa aggaaaaaca gatctcagtg tacaaatctg
      361 gggcaaagct gccattggct tgtatctctg ggagcatatt tttgaaggct tacttgatcc
      421 cagcgatgtg actgctcaat ggagagaagg aaagtcaatc gtaggaagaa cacagtacag
      481 cttcatcact ggtccagctg taataccagg gtacttctcc gttgatgtga ataatgtggt
      541 actcatttta aatggaagag aaaaagcaaa gatcttttat gccacccagt ggttacttta
      601 tgcacaaaat ttagtgcaaa ttcaaaaact ccagcatctt gctgttgttt tgctcggaaa
      661 tgaacattgt gataatgagt ggataaaccc attcctcaaa agaaatggag gcttcgtgga
      721 gctgcttttc ataatatatg acagcccctg gattaatgac gtggatgttt ttcagtggcc
      781 tttaggagta gcaacataca ggaattttcc tgtggtggag gcaagttggt caatgctgca
      841 tgatgagagg ccatatttat gtaatttctt aggaacgatt tatgaaaatt catccagaca
      901 ggcactaatg aacattttga aaaaagatgg gaacgataag ctttgttggg tttcagcaag
      961 agaacactgg cagcctcagg aaacaaatga aagtcttaag aattaccaag atgccttgct
     1021 tcagagtgat ctcacattgt gcccggtcgg agtaaacaca gaatgctatc gaatctatga
     1081 ggcttgctcc tatggctcca ttcctgtggt ggaagacgtg atgacagctg gcaactgtgg
     1141 gaatacatct gtgcaccacg gtgctcctct gcagttactc aagtccatgg gtgctccctt
     1201 tatctttatc aagaactgga aggaactccc tgctgtttta gaaaaagaga aaactataat
     1261 tttacaagaa aaaattgaaa gaagaaaaat gttacttcag tggtatcagc acttcaagac
     1321 agagcttaaa atgaaattta ctaatatttt agaaagctca tttttaatga ataataaaag
     1381 ttaattatct ttttgagcta acatgtgatt tttaaaatca ttttgactac tgggtgtata
     1441 aatgtgtttg tgtgtgtatg tatttataga tgttctttaa ggtacccttg aaaactctac
     1501 attatgtatg ccacataatg acatttcagt cagtggtaga ctacatatat gatagtggtc
     1561 ccataagatt ataatggagc tgaaaaattt ctatcgccta gtgatgtcat agcctagtga
     1621 tgacatatgt attgcaatac atcactcacg tgtttgtggt gatactggtg taaacaaatc
     1681 tattgcactg ccagtcaagt aaaagtacag caattatgtc ctgtacataa tatttaataa
     1741 tgacaataaa tgactatgtt actggtttat gtatttacta tactatactt tttacaattt
     1801 gtattagttc ttgcattgct atgaataaat gcctgagatt gagtaattta taaa
//
