LOCUS       NM_080605               2805 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens beta-1,3-galactosyltransferase 6 (B3GALT6), mRNA.
ACCESSION   NM_080605
VERSION     NM_080605.4
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 2805)
  AUTHORS   Sreekumar,A., Lu,M., Choudhury,B., Pan,T.C., Pant,D.K.,
            Lawrence-Paul,M.R., Sterner,C.J., Belka,G.K., Toriumi,T.,
            Benz,B.A., Escobar-Aguirre,M., Marino,F.E., Esko,J.D. and
            Chodosh,L.A.
  TITLE     B3GALT6 promotes dormant breast cancer cell survival and recurrence
            by enabling heparan sulfate-mediated FGF signaling
  JOURNAL   Cancer Cell 42 (1), 52-69 (2024)
   PUBMED   38065100
  REMARK    GeneRIF: B3GALT6 promotes dormant breast cancer cell survival and
            recurrence by enabling heparan sulfate-mediated FGF signaling.
REFERENCE   2  (bases 1 to 2805)
  AUTHORS   Lei,J., Deng,H., Ran,Y., Lv,Y., Amhare,A.F., Wang,L., Guo,X.,
            Han,J. and Lammi,M.J.
  TITLE     Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in
            Patients with Osteoarthritis and Kashin-Beck Disease
  JOURNAL   Cartilage 13 (1_suppl), 818S-828S (2021)
   PUBMED   32517548
  REMARK    GeneRIF: Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2
            in Patients with Osteoarthritis and Kashin-Beck Disease.
REFERENCE   3  (bases 1 to 2805)
  AUTHORS   Leoni,C., Tedesco,M., Radio,F.C., Chillemi,G., Leone,A.,
            Bruselles,A., Ciolfi,A., Stellacci,E., Pantaleoni,F., Butera,G.,
            Rigante,D., Onesimo,R., Tartaglia,M. and Zampino,G.
  TITLE     Broadening the phenotypic spectrum of Beta3GalT6-associated
            phenotypes
  JOURNAL   Am J Med Genet A 185 (10), 3153-3160 (2021)
   PUBMED   34159694
  REMARK    GeneRIF: Broadening the phenotypic spectrum of
            Beta3GalT6-associated phenotypes.
REFERENCE   4  (bases 1 to 2805)
  AUTHORS   Descartes,M., Melenevsky,Y.V., Rudy,N., Smith,K., Callaway,K. and
            Parker,J.S.
  TITLE     Keratoconus in a patient with B3GALT6-related disorder
  JOURNAL   Clin Genet 99 (6), 849-850 (2021)
   PUBMED   33631843
  REMARK    GeneRIF: Keratoconus in a patient with B3GALT6-related disorder.
REFERENCE   5  (bases 1 to 2805)
  AUTHORS   Caraffi,S.G., Maini,I., Ivanovski,I., Pollazzon,M., Giangiobbe,S.,
            Valli,M., Rossi,A., Sassi,S., Faccioli,S., Rocco,M.D., Magnani,C.,
            Campos-Xavier,B., Unger,S., Superti-Furga,A. and Garavelli,L.
  TITLE     Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of
            Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and
            Spondylodysplastic-EDS-B3GALT6
  JOURNAL   Genes (Basel) 10 (10), 799 (2019)
   PUBMED   31614862
  REMARK    GeneRIF: Defineed some of the clinical features of B4GALT7 and
            B3GALT6-related conditions and underlined the extreme hypermobility
            of distal joints and the soft, doughy skin on the hands and feet as
            features that may be useful as the first clues for a correct
            diagnosis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2805)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 2805)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   8  (bases 1 to 2805)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2805)
  AUTHORS   Bai,X., Zhou,D., Brown,J.R., Crawford,B.E., Hennet,T. and Esko,J.D.
  TITLE     Biosynthesis of the linkage region of glycosaminoglycans: cloning
            and activity of galactosyltransferase II, the sixth member of the
            beta 1,3-galactosyltransferase family (beta 3GalT6)
  JOURNAL   J Biol Chem 276 (51), 48189-48195 (2001)
   PUBMED   11551958
REFERENCE   10 (bases 1 to 2805)
  AUTHORS   Zhou,D., Dinter,A., Gutierrez Gallego,R., Kamerling,J.P.,
            Vliegenthart,J.F., Berger,E.G. and Hennet,T.
  TITLE     A beta-1,3-N-acetylglucosaminyltransferase with
            poly-N-acetyllactosamine synthase activity is structurally related
            to beta-1,3-galactosyltransferases
  JOURNAL   Proc Natl Acad Sci U S A 96 (2), 406-411 (1999)
   PUBMED   9892646
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162741.44.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 30, 2018 this sequence version replaced NM_080605.3.
            
            Summary: The enzyme encoded by this intronless gene is a
            beta-1,3-galactosyltransferase found in the medial Golgi apparatus,
            where it catalyzes the transfer of galactose from UDP-galactose to
            substrates containing a terminal beta-linked galactose moiety. The
            encoded enzyme has a particular affinity for
            galactose-beta-1,4-xylose found in the linker region of
            glycosamines. This enzyme is required for glycosaminoglycan
            synthesis. [provided by RefSeq, Jun 2013].
            
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly. The genomic coordinates were determined from
            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 is intronless :: DRR138524.218528.1, DRR138524.201523.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379198.5/ ENSP00000368496.2
            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
            1-2805              AL162741.44        42349-45153
FEATURES             Location/Qualifiers
     source          1..2805
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..2805
                     /gene="B3GALT6"
                     /gene_synonym="ALGAZ; beta3GalT6; EDSP2; EDSSPD2; SEMDJL1"
                     /note="beta-1,3-galactosyltransferase 6"
                     /db_xref="GeneID:126792"
                     /db_xref="HGNC:HGNC:17978"
                     /db_xref="MIM:615291"
     exon            1..2805
                     /gene="B3GALT6"
                     /gene_synonym="ALGAZ; beta3GalT6; EDSP2; EDSSPD2; SEMDJL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1032
                     /gene="B3GALT6"
                     /gene_synonym="ALGAZ; beta3GalT6; EDSP2; EDSSPD2; SEMDJL1"
                     /EC_number="2.4.1.134"
                     /note="UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase,
                     polypeptide 6; GAG GalTII; beta3Gal-T6; beta-1,3-GalTase
                     6; galactosyltransferase II; galactosylxylosylprotein
                     3-beta-galactosyltransferase; UDP-Gal:betaGal beta
                     1,3-galactosyltransferase polypeptide 6; UDP-Gal:betaGal
                     beta 1,3-galactosyltransferase 6"
                     /codon_start=1
                     /product="beta-1,3-galactosyltransferase 6 precursor"
                     /protein_id="NP_542172.2"
                     /db_xref="CCDS:CCDS13.1"
                     /db_xref="GeneID:126792"
                     /db_xref="HGNC:HGNC:17978"
                     /db_xref="MIM:615291"
                     /translation="MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSG
                     RSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLG
                     AEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSF
                     ARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGY
                     VLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYL
                     VTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP"
     regulatory      1460..1465
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GALT6"
                     /gene_synonym="ALGAZ; beta3GalT6; EDSP2; EDSSPD2; SEMDJL1"
                     /note="hexamer: TATAAA"
     polyA_site      1493
                     /gene="B3GALT6"
                     /gene_synonym="ALGAZ; beta3GalT6; EDSP2; EDSSPD2; SEMDJL1"
                     /note="major polyA site"
     regulatory      1911..1916
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GALT6"
                     /gene_synonym="ALGAZ; beta3GalT6; EDSP2; EDSSPD2; SEMDJL1"
                     /note="hexamer: AATGAA"
     polyA_site      1944
                     /gene="B3GALT6"
                     /gene_synonym="ALGAZ; beta3GalT6; EDSP2; EDSSPD2; SEMDJL1"
     regulatory      2783..2788
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GALT6"
                     /gene_synonym="ALGAZ; beta3GalT6; EDSP2; EDSSPD2; SEMDJL1"
                     /note="hexamer: ATTAAA"
     polyA_site      2805
                     /gene="B3GALT6"
                     /gene_synonym="ALGAZ; beta3GalT6; EDSP2; EDSSPD2; SEMDJL1"
                     /note="major polyA site"
ORIGIN      
        1 actcgcgagt ccggcctggg ccgccggccc ggcgcgggcg ccatgaagct gctgcggcgg
       61 gcgtggcggc ggcgggcggc gctaggcctg ggcacgctgg cgctgtgcgg ggcggcgctg
      121 ctctacctgg cgcgctgcgc ggccgagccc ggggacccca gggcgatgtc gggccgcagc
      181 ccgcctcccc ccgcgcccgc gcgcgccgcc gccttcctgg cagtgctggt ggccagcgcg
      241 ccccgcgccg ccgagcgccg cagcgtgatc cgcagcacgt ggcttgcgcg gcgcggggcc
      301 ccgggcgacg tgtgggcgcg ctttgccgtg ggcacggccg gcctgggcgc cgaggagcgg
      361 cgcgccctgg agcgggagca ggcgcggcac ggggacctgc tgctgctgcc cgcgctgcgc
      421 gacgcctacg aaaacctcac ggccaaggtg ctggccatgc tggcctggct ggacgagcac
      481 gtggccttcg agttcgtgct caaggcggac gacgactcct tcgcgcggct ggacgcgctg
      541 ctggccgagc tgcgcgcccg cgagcccgcg cgccgccgcc gcctctactg gggcttcttc
      601 tcgggccgcg gccgcgtcaa gccggggggg cgctggcgcg aggccgcctg gcaactctgc
      661 gactactacc tgccctacgc gctgggcggc ggctacgtgc tctcggccga cctggtgcac
      721 tacctgcgcc tcagccgcga ctacctgcgc gcctggcaca gcgaggacgt gtctctgggc
      781 gcctggctgg cgccggtgga cgtccagcgg gagcacgacc cgcgcttcga caccgaatac
      841 cggtcccgcg gctgcagcaa ccagtacctg gtgacgcaca agcagagcct ggaggacatg
      901 ctggagaagc acgcgacgct ggcgcgcgag ggccgcctgt gcaagcgcga ggtgcagctg
      961 cgcctgtcct acgtgtacga ctggtccgcg ccgccctcgc agtgctgcca gagaagggag
     1021 ggcatcccct gagccgccgc ggcccggccc tccgggacac ctgcttcacc cggcggcgcc
     1081 ttggggcagg tgccgagcgg gcgcactacg cccgggcccc aaggcccccg tcccgcagcc
     1141 acgcttgtgg tcgctgcgtc ccggtctgcg tttgggagac ccctgggggt tgccggggca
     1201 gcgcgccgtg tccaggtgga ggtgcccgtt cctggacctc agcgagcctg agccgggccc
     1261 ggccgcacgc tgacccccgt gctgtccccg accggctcac ggggctgggc tccgatcttc
     1321 cgtgtctctt atcagtggcg tttctcacgt ctgcgtctca gatctaacgt ggtttcacat
     1381 caatccgctt tcatgggatt ttggtctctg tccagtgact tcgtggtaaa tgtaactcag
     1441 tgtttgcttg cgacttattt ataaatattg taagtttgtg tcgatgagtg taagttggca
     1501 gtgcgcacgt ctcggttttt ttacatgatt taaggaaaga cttttatgtc agaacttggt
     1561 gcctgtaccg tcaaccccgc tgctgcccgt gtttaaacgc aggagaactt taaaactggc
     1621 catctatctt ttcagtgtac aagtcactga acccattgtt tctttctgaa gagactttcc
     1681 tttcaaggct tcccatgggt ccgcgccaca cagggccggt gctgctttat ttcagactct
     1741 gccccaggtt ccaggaatcc gaaccccgga gtgctgacgc ggttccccaa cttccgcctt
     1801 aagaaaacag gaccagccgg caccaggccc gtctctcacg tactttaaca catccttgaa
     1861 agcccctcgt ttaatgagaa aagcgaacac tgcggtcctt gccaaagtaa aatgaagctg
     1921 ccccaggaca aggggttacc atgagctccc tggagtccga cgcgggtttt ctctctgggg
     1981 gacctgggtg gtccccgctg tggtctttgt tgtcccactt tgggaccggg tccagtctgg
     2041 ggtctagtct cgagcatcag ggtcaggctc ggggcagggc tgggttaggc tccgggtcag
     2101 tcttgccatg ggtttgggag caggtttggg ttacttgcgt ttgaaggcag cagtggtctc
     2161 aggaggaaga aacgggggcg ggagagagtg gtgatctgtg gtcagtgggt cagtgacctg
     2221 cacggtgatt ctcccacctc caaaaggtag gggtgggact ggaggcgtcc ctaggtcagg
     2281 ccgttgagtt cgagctccga tgggccacct tgaatccagg actgaccgcc cgtgtgtgca
     2341 cagtttgttc ttggacgagg actcgtgagg atcgagggct ggggaccccg gtgtgagcag
     2401 gatggggccc tgccctcccg tgggagttgt ggactcgagc ccaggggctg cccgtcacag
     2461 cggtgtccca ggtccctgcc atccgatttt acctgggatg tcttctctgg agtttggaat
     2521 tgcttgagga accctgcgtg tgcttggaga ggccagaggg cttgctgaga accccatgga
     2581 cagtggagag cgggattcga accaagggct ggactcccac acctctggcc tgcgtcgccc
     2641 agttctttgt ggctctgaag aattggccgc tgtggaaaag agcaaatgtc cgagaccccc
     2701 aacaggaaga gtctaaaaat ccagtttgca accacttctg acctacaaaa aaatggaaat
     2761 ttagtgtttt tcagcctaag acattaaatt tcatatcaga acaaa
//
