LOCUS       NM_007255               1698 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens beta-1,4-galactosyltransferase 7 (B4GALT7), mRNA.
ACCESSION   NM_007255
VERSION     NM_007255.3
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 1698)
  AUTHORS   Liu,C., Jia,Y., Zhao,X., Wang,Z., Zhu,X., Zhang,C., Li,X., Zhao,X.,
            Gong,T., Zhao,H., Zhang,D., Niu,Y., Dong,X., Li,G., Li,F.,
            Zhang,H., Zhang,L., Xu,J. and Yu,B.
  TITLE     Targeting B4GALT7 suppresses the proliferation, migration and
            invasion of hepatocellular carcinoma through the Cdc2/CyclinB1 and
            miR-338-3p/MMP2 pathway
  JOURNAL   PeerJ 11, e16450 (2023)
   PUBMED   38025683
  REMARK    GeneRIF: Targeting B4GALT7 suppresses the proliferation, migration
            and invasion of hepatocellular carcinoma through the Cdc2/CyclinB1
            and miR-338-3p/MMP2 pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1698)
  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   3  (bases 1 to 1698)
  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: Define 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   4  (bases 1 to 1698)
  AUTHORS   Mihalic Mosher,T., Zygmunt,D.A., Koboldt,D.C., Kelly,B.J.,
            Johnson,L.R., McKenna,D.S., Hood,B.C., Hickey,S.E., White,P.,
            Wilson,R.K., Martin,P.T. and McBride,K.L.
  TITLE     Expansion of B4GALT7 linkeropathy phenotype to include perinatal
            lethal skeletal dysplasia
  JOURNAL   Eur J Hum Genet 27 (10), 1569-1577 (2019)
   PUBMED   31278392
  REMARK    GeneRIF: The findings in this family expand the clinical phenotype
            of B4GALT7-related linkeropathies to include perinatal lethal
            skeletal dysplasia
REFERENCE   5  (bases 1 to 1698)
  AUTHORS   Salter,C.G., Davies,J.H., Moon,R.J., Fairhurst,J., Bunyan,D. and
            Foulds,N.
  CONSRTM   DDD Study
  TITLE     Further defining the phenotypic spectrum of B4GALT7 mutations
  JOURNAL   Am J Med Genet A 170 (6), 1556-1563 (2016)
   PUBMED   26940150
  REMARK    GeneRIF: The phenotypes described in this article caused by
            bi-allelic mutations in B4GALT7 would benefit from reclassification
            and loss of its current association with PEDS. These conditions
            would be better grouped with the other linkeropathies.
REFERENCE   6  (bases 1 to 1698)
  AUTHORS   Amado,M., Almeida,R., Schwientek,T. and Clausen,H.
  TITLE     Identification and characterization of large galactosyltransferase
            gene families: galactosyltransferases for all functions
  JOURNAL   Biochim Biophys Acta 1473 (1), 35-53 (1999)
   PUBMED   10580128
  REMARK    Review article
REFERENCE   7  (bases 1 to 1698)
  AUTHORS   Okajima,T., Fukumoto,S., Furukawa,K. and Urano,T.
  TITLE     Molecular basis for the progeroid variant of Ehlers-Danlos
            syndrome. Identification and characterization of two mutations in
            galactosyltransferase I gene
  JOURNAL   J Biol Chem 274 (41), 28841-28844 (1999)
   PUBMED   10506123
REFERENCE   8  (bases 1 to 1698)
  AUTHORS   Almeida,R., Levery,S.B., Mandel,U., Kresse,H., Schwientek,T.,
            Bennett,E.P. and Clausen,H.
  TITLE     Cloning and expression of a proteoglycan UDP-galactose:beta-xylose
            beta1,4-galactosyltransferase I. A seventh member of the human
            beta4-galactosyltransferase gene family
  JOURNAL   J Biol Chem 274 (37), 26165-26171 (1999)
   PUBMED   10473568
REFERENCE   9  (bases 1 to 1698)
  AUTHORS   Okajima,T., Yoshida,K., Kondo,T. and Furukawa,K.
  TITLE     Human homolog of Caenorhabditis elegans sqv-3 gene is
            galactosyltransferase I involved in the biosynthesis of the
            glycosaminoglycan-protein linkage region of proteoglycans
  JOURNAL   J Biol Chem 274 (33), 22915-22918 (1999)
   PUBMED   10438455
REFERENCE   10 (bases 1 to 1698)
  AUTHORS   Kresse,H., Rosthoj,S., Quentin,E., Hollmann,J., Glossl,J., Okada,S.
            and Tonnesen,T.
  TITLE     Glycosaminoglycan-free small proteoglycan core protein is secreted
            by fibroblasts from a patient with a syndrome resembling progeroid
  JOURNAL   Am J Hum Genet 41 (3), 436-453 (1987)
   PUBMED   3631078
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC072403.1 and AF142675.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_007255.2.
            
            Summary: This gene is a member of the
            beta-1,4-galactosyltransferase (beta4GalT) family. Family members
            encode type II membrane-bound glycoproteins that appear to have
            exclusive specificity for the donor substrate UDP-galactose. Each
            beta4GalT member has a distinct function in the biosynthesis of
            different glycoconjugates and saccharide structures. As type II
            membrane proteins, they have an N-terminal hydrophobic signal
            sequence that directs the protein to the Golgi apparatus which then
            remains uncleaved to function as a transmembrane anchor. The enzyme
            encoded by this gene attaches the first galactose in the common
            carbohydrate-protein linkage
            (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in
            proteoglycans. This enzyme differs from other beta4GalTs because it
            lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and
            it is located in cis-Golgi instead of trans-Golgi. Mutations in
            this gene have been associated with the progeroid form of
            Ehlers-Danlos syndrome. [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 :: SRR3476690.310844.1,
                                           SRR1163655.38696.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000029410.10/ ENSP00000029410.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1643              BC072403.1         4-1646
            1644-1698           AF142675.1         1597-1651
FEATURES             Location/Qualifiers
     source          1..1698
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
     gene            1..1698
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
                     /note="beta-1,4-galactosyltransferase 7"
                     /db_xref="GeneID:11285"
                     /db_xref="HGNC:HGNC:930"
                     /db_xref="MIM:604327"
     exon            1..129
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..1063
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
                     /EC_number="2.4.1.133"
                     /note="beta-1,4-galactosyltransferase VII; beta4Gal-T7;
                     beta4GalT-VII; UDP-galactose:beta-N-acetylglucosamine
                     beta-1,4-galactosyltransferase 7; galactosyltransferase I;
                     proteoglycan UDP-galactose:beta-xylose
                     beta1,4-galactosyltransferase I; beta-1,4-GalTase 7;
                     UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7;
                     xylosylprotein 4-beta-galactosyltransferase;
                     xylosylprotein beta 1,4-galactosyltransferase, polypeptide
                     7; xylosylprotein beta-1,4-galactosyltransferase;
                     UDP-galactose:beta-xylose beta-1,4-galactosyltransferase"
                     /codon_start=1
                     /product="beta-1,4-galactosyltransferase 7"
                     /protein_id="NP_009186.1"
                     /db_xref="CCDS:CCDS4429.1"
                     /db_xref="GeneID:11285"
                     /db_xref="HGNC:HGNC:930"
                     /db_xref="MIM:604327"
                     /translation="MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFF
                     SLLWLQLSCSGDVARAVRGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVPFR
                     ERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIA
                     MHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMS
                     NRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQ
                     EQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS"
     exon            130..492
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
                     /inference="alignment:Splign:2.1.0"
     exon            493..718
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
                     /inference="alignment:Splign:2.1.0"
     exon            719..802
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
                     /inference="alignment:Splign:2.1.0"
     exon            803..907
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
                     /inference="alignment:Splign:2.1.0"
     exon            908..1698
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1618..1623
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
                     /note="hexamer: AAGAAA"
     polyA_site      1643
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
                     /note="major polyA site"
     regulatory      1679..1684
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
                     /note="hexamer: AATGAA"
     polyA_site      1698
                     /gene="B4GALT7"
                     /gene_synonym="EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT;
                     XGPT1"
ORIGIN      
        1 ggaggcgccg cgtaggcccg ggaggccggg ccggccgggc tgcgagcgcc tgccccatgc
       61 gccgccgcct ctccgcacga tgttcccctc gcggaggaaa gcggcgcagc tgccctggga
      121 ggacggcagg tccgggttgc tctccggcgg cctccctcgg aagtgttccg tcttccacct
      181 gttcgtggcc tgcctctcgc tgggcttctt ctccctactc tggctgcagc tcagctgctc
      241 tggggacgtg gcccgggcag tcaggggaca agggcaggag acctcgggcc ctccccgtgc
      301 ctgcccccca gagccgcccc ctgagcactg ggaagaagac gcatcctggg gcccccaccg
      361 cctggcagtg ctggtgccct tccgcgaacg cttcgaggag ctcctggtct tcgtgcccca
      421 catgcgccgc ttcctgagca ggaagaagat ccggcaccac atctacgtgc tcaaccaggt
      481 ggaccacttc aggttcaacc gggcagcgct catcaacgtg ggcttcctgg agagcagcaa
      541 cagcacggac tacattgcca tgcacgacgt tgacctgctc cctctcaacg aggagctgga
      601 ctatggcttt cctgaggctg ggcccttcca cgtggcctcc ccggagctcc accctctcta
      661 ccactacaag acctatgtcg gcggcatcct gctgctctcc aagcagcact accggctgtg
      721 caatgggatg tccaaccgct tctggggctg gggccgcgag gacgacgagt tctaccggcg
      781 cattaaggga gctgggctcc agcttttccg cccctcggga atcacaactg ggtacaagac
      841 atttcgccac ctgcatgacc cagcctggcg gaagagggac cagaagcgca tcgcagctca
      901 aaaacaggag cagttcaagg tggacaggga gggaggcctg aacactgtga agtaccatgt
      961 ggcttcccgc actgccctgt ctgtgggcgg ggccccctgc actgtcctca acatcatgtt
     1021 ggactgtgac aagaccgcca caccctggtg cacattcagc tgagctggat ggacagtgag
     1081 gaagcctgta cctacaggcc atattgctca ggctcaggac aaggcctcag gtcgtgggcc
     1141 cagctctgac aggatgtgga gtggccagga ccaagacagc aagctacgca attgcagcca
     1201 cccggccgcc aaggcaggct tgggctgggc caggacacgt ggggtgcctg ggacgctgct
     1261 tgccatgcac agtgatcaga gagaggctgg ggtgtgtcct gtccgggacc ccccctgcct
     1321 tcctgctcac cctactctga cctccttcac gtgcccaggc ctgtgggtag tggggagggc
     1381 tgaacaggac aacctctcat cacccccact tttgttcctt cctgctgggc tgcctcgtgc
     1441 agagacacag tgtaggggcc atgcagctgg cgtaggtggc agttgggcct ggtgagggtt
     1501 aggacttcag aaaccagagc acaagcccca cagaggggga acagccagca ccgctctagc
     1561 tggttgttgc catgccggaa tgtgggccta gtgttgccag atcttctgat ttttcgaaag
     1621 aaactagaat gctggattct taagtgatat cttctgattt tttaaatgat agcacctaaa
     1681 tgaaactttc aaaaagta
//
