LOCUS       NM_022479               3909 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens polypeptide N-acetylgalactosaminyltransferase 17
            (GALNT17), mRNA.
ACCESSION   NM_022479
VERSION     NM_022479.3
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 3909)
  AUTHORS   Welton,T., Teo,T.W.J., Chan,L.L., Tan,E.K. and Tan,L.C.S.
  TITLE     Parkinson's Disease Risk Variant rs9638616 is Non-Specifically
            Associated with Altered Brain Structure and Function
  JOURNAL   J Parkinsons Dis 14 (4), 713-724 (2024)
   PUBMED   38640170
  REMARK    GeneRIF: Parkinson's Disease Risk Variant rs9638616 is
            Non-Specifically Associated with Altered Brain Structure and
            Function.
REFERENCE   2  (bases 1 to 3909)
  AUTHORS   Li,G., Qin,Y., Qin,S., Zhou,X., Zhao,W. and Zhang,D.
  TITLE     Circ_WBSCR17 aggravates inflammatory responses and fibrosis by
            targeting miR-185-5p/SOX6 regulatory axis in high glucose-induced
            human kidney tubular cells
  JOURNAL   Life Sci 259, 118269 (2020)
   PUBMED   32798559
  REMARK    GeneRIF: Circ_WBSCR17 aggravates inflammatory responses and
            fibrosis by targeting miR-185-5p/SOX6 regulatory axis in high
            glucose-induced human kidney tubular cells.
REFERENCE   3  (bases 1 to 3909)
  AUTHORS   Foo,J.N., Chew,E.G.Y., Chung,S.J., Peng,R., Blauwendraat,C.,
            Nalls,M.A., Mok,K.Y., Satake,W., Toda,T., Chao,Y., Tan,L.C.S.,
            Tandiono,M., Lian,M.M., Ng,E.Y., Prakash,K.M., Au,W.L., Meah,W.Y.,
            Mok,S.Q., Annuar,A.A., Chan,A.Y.Y., Chen,L., Chen,Y., Jeon,B.S.,
            Jiang,L., Lim,J.L., Lin,J.J., Liu,C., Mao,C., Mok,V., Pei,Z.,
            Shang,H.F., Shi,C.H., Song,K., Tan,A.H., Wu,Y.R., Xu,Y.M., Xu,R.,
            Yan,Y., Yang,J., Zhang,B., Koh,W.P., Lim,S.Y., Khor,C.C., Liu,J.
            and Tan,E.K.
  TITLE     Identification of Risk Loci for Parkinson Disease in Asians and
            Comparison of Risk Between Asians and Europeans: A Genome-Wide
            Association Study
  JOURNAL   JAMA Neurol 77 (6), 746-754 (2020)
   PUBMED   32310270
  REMARK    GeneRIF: Identification of Risk Loci for Parkinson Disease in
            Asians and Comparison of Risk Between Asians and Europeans: A
            Genome-Wide Association Study.
REFERENCE   4  (bases 1 to 3909)
  AUTHORS   Connolly,S., Anney,R., Gallagher,L. and Heron,E.A.
  TITLE     A genome-wide investigation into parent-of-origin effects in autism
            spectrum disorder identifies previously associated genes including
            SHANK3
  JOURNAL   Eur J Hum Genet 25 (2), 234-239 (2017)
   PUBMED   27876814
  REMARK    GeneRIF: GWA study identified maternal genetic effects not
            previously identified in ASD at a locus in WBSCR17.
REFERENCE   5  (bases 1 to 3909)
  AUTHORS   Fransen,E., Bonneux,S., Corneveaux,J.J., Schrauwen,I., Di
            Berardino,F., White,C.H., Ohmen,J.D., Van de Heyning,P.,
            Ambrosetti,U., Huentelman,M.J., Van Camp,G. and Friedman,R.A.
  TITLE     Genome-wide association analysis demonstrates the highly polygenic
            character of age-related hearing impairment
  JOURNAL   Eur J Hum Genet 23 (1), 110-115 (2015)
   PUBMED   24939585
REFERENCE   6  (bases 1 to 3909)
  AUTHORS   Turner,S.T., Bailey,K.R., Schwartz,G.L., Chapman,A.B., Chai,H.S.
            and Boerwinkle,E.
  TITLE     Genomic association analysis identifies multiple loci influencing
            antihypertensive response to an angiotensin II receptor blocker
  JOURNAL   Hypertension 59 (6), 1204-1211 (2012)
   PUBMED   22566498
REFERENCE   7  (bases 1 to 3909)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3909)
  AUTHORS   Nakamura,N., Toba,S., Hirai,M., Morishita,S., Mikami,T.,
            Konishi,M., Itoh,N. and Kurosaka,A.
  TITLE     Cloning and expression of a brain-specific putative UDP-GalNAc:
            polypeptide N-acetylgalactosaminyltransferase gene
  JOURNAL   Biol Pharm Bull 28 (3), 429-433 (2005)
   PUBMED   15744064
REFERENCE   9  (bases 1 to 3909)
  AUTHORS   Merla,G., Ucla,C., Guipponi,M. and Reymond,A.
  TITLE     Identification of additional transcripts in the Williams-Beuren
            syndrome critical region
  JOURNAL   Hum Genet 110 (5), 429-438 (2002)
   PUBMED   12073013
REFERENCE   10 (bases 1 to 3909)
  AUTHORS   Valero,M.C., de Luis,O., Cruces,J. and Perez Jurado,L.A.
  TITLE     Fine-scale comparative mapping of the human 7q11.23 region and the
            orthologous region on mouse chromosome 5G: the low-copy repeats
            that flank the Williams-Beuren syndrome deletion arose at
            breakpoint sites of an evolutionary inversion(s)
  JOURNAL   Genomics 69 (1), 1-13 (2000)
   PUBMED   11013070
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004963.2, AK290036.1 and
            AF410457.1.
            
            On Nov 23, 2018 this sequence version replaced NM_022479.2.
            
            Summary: This gene encodes an N-acetylgalactosaminyltransferase.
            This gene is located centromeric to the common deleted region in
            Williams-Beuren syndrome (WBS), a multisystem developmental
            disorder caused by the deletion of contiguous genes at 7q11.23.
            This protein may play a role in membrane trafficking. [provided by
            RefSeq, Jan 2013].
            
            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 :: AF410457.1, SRR1803612.92981.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333538.10/ ENSP00000329654.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-393               AC004963.2         150747-151139       c
            394-545             AK290036.1         4-155
            546-546             AC004963.2         150594-150594       c
            547-2749            AK290036.1         157-2359
            2750-3909           AF410457.1         2091-3250
FEATURES             Location/Qualifiers
     source          1..3909
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.22"
     gene            1..3909
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /note="polypeptide N-acetylgalactosaminyltransferase 17"
                     /db_xref="GeneID:64409"
                     /db_xref="HGNC:HGNC:16347"
                     /db_xref="MIM:615137"
     exon            1..897
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /inference="alignment:Splign:2.1.0"
     CDS             660..2456
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /EC_number="2.4.1.41"
                     /note="polypeptide N-acetylgalactosaminyltransferase
                     WBSCR17; polypeptide GalNAc transferase 3; polypeptide
                     N-acetylgalactosaminyltransferase-like 3;
                     UDP-GalNAc:polypeptide
                     N-acetylgalactosaminyltransferase-like 3; Williams-Beuren
                     syndrome chromosome region 17; ppGalNAc-T17;
                     UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase 16; putative polypeptide
                     N-acetylgalactosaminyltransferase-like protein 3;
                     pp-GalNAc-transferase 20; galNAc-T-like protein 3;
                     pp-GaNTase-like protein 3; polypeptide GalNAc
                     transferase-like protein 3; williams-Beuren syndrome
                     chromosomal region 17 protein; protein-UDP
                     acetylgalactosaminyltransferase-like protein 3;
                     UDP-GalNAc:polypeptide
                     N-acetylgalactosaminyltransferase-like protein 3"
                     /codon_start=1
                     /product="polypeptide N-acetylgalactosaminyltransferase 17
                     precursor"
                     /protein_id="NP_071924.1"
                     /db_xref="CCDS:CCDS5540.1"
                     /db_xref="GeneID:64409"
                     /db_xref="HGNC:HGNC:16347"
                     /db_xref="MIM:615137"
                     /translation="MASLRRVKVLLVLNLIAVAGFVLFLAKCRPIAVRSGDAFHEIRP
                     RAEVANLSAHSASPIQDAVLKRLSLLEDIVYRQLNGLSKSLGLIEGYGGRGKGGLPAT
                     LSPAEEEKAKGPHEKYGYNSYLSEKISLDRSIPDYRPTKCKELKYSKDLPQISIIFIF
                     VNEALSVILRSVHSAVNHTPTHLLKEIILVDDNSDEEELKVPLEEYVHKRYPGLVKVV
                     RNQKREGLIRARIEGWKVATGQVTGFFDAHVEFTAGWAEPVLSRIQENRKRVILPSID
                     NIKQDNFEVQRYENSAHGYSWELWCMYISPPKDWWDAGDPSLPIRTPAMIGCSFVVNR
                     KFFGEIGLLDPGMDVYGGENIELGIKVWLCGGSMEVLPCSRVAHIERKKKPYNSNIGF
                     YTKRNALRVAEVWMDDYKSHVYIAWNLPLENPGIDIGDVSERRALRKSLKCKNFQWYL
                     DHVYPEMRRYNNTVAYGELRNNKAKDVCLDQGPLENHTAILYPCHGWGPQLARYTKEG
                     FLHLGALGTTTLLPDTRCLVDNSKSRLPQLLDCDKVKSSLYKRWNFIQNGAIMNKGTG
                     RCLEVENRGLAGIDLILRSCTGQRWTIKNSIK"
     exon            898..1081
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1082..1248
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1423
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1621
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1622..1739
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1740..1925
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1926..2063
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /inference="alignment:Splign:2.1.0"
     exon            2064..2159
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /inference="alignment:Splign:2.1.0"
     exon            2160..2327
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /inference="alignment:Splign:2.1.0"
     exon            2328..3909
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3885..3890
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /note="hexamer: AATAAA"
     polyA_site      3909
                     /gene="GALNT17"
                     /gene_synonym="GalNAc-T17; GalNAc-T19; GalNAc-T5L;
                     GALNACT17; GALNT16; GALNT20; GALNTL3; WBSCR17"
                     /note="major polyA site"
ORIGIN      
        1 gagacttgag cgtgactgcg gagcctggag gatgcgggct ccccgagcgg gcttcccctc
       61 tgcccggcgc gatggagcgg gtcggtgagc ggaacaaagg cgcctgcccg ggggagcggg
      121 tcttccgctg aagagcgcgg gtggcgcgcc gcgacggccg cctgcgggcc aaggtgggag
      181 gctgtgcggc cccaggcgcg gcgcgctccg ccgtgggcgg gcggcgatcc ctgagtccgg
      241 cacctgtgcg ccgctccctc tgtgcctccc gggcagcccc gcctgccggc ctcggagtcc
      301 gcggcgccgg cggctagagg tccagaggcg aaccacttgc tggtgcagaa gagaaaccct
      361 caaatccctg gcctttcgcg gagacgcctg gacggggccg tgcgccgtgg actgagcagg
      421 cgtctcgggg agcacttctg cagagcgagg acttccatgt gagcgattcc gttctcccca
      481 ccaccaatcc gacctcccag ccgtctccgc cgcccgagca tccttgaggt gggacgagca
      541 ggggcttgga tccctgccgg ccgtctggtg tgtgaggctt gcacggcccc tggctgcccc
      601 gcgcctcgcc ggagcccgag ggggcgcagg tccggggcga gggccggccg ggctgtttga
      661 tggcttcact gagaagagtc aaagtgctgt tggtgttgaa cttgatcgcg gtagccggct
      721 tcgtgctctt cctggccaag tgccggccca tcgcggtgcg cagcggagac gccttccacg
      781 agatccggcc gcgcgccgag gtggccaacc tcagcgcgca cagcgccagc cccatccagg
      841 atgcggtcct gaagcgcctg tcgctgctgg aggacatcgt gtaccggcag ctgaatggct
      901 tatccaaatc ccttgggctc attgaaggtt atggtgggcg gggtaaaggg ggccttccgg
      961 ctactctttc cccggctgaa gaagaaaagg ctaagggacc ccatgagaag tatggctaca
     1021 attcatacct cagtgaaaaa atttcactgg accgttccat tccggattat cgtcccacca
     1081 agtgtaagga gctcaagtac tccaaggacc tgccccagat atccatcata ttcatcttcg
     1141 tgaacgaggc cctgtcggtg atcctgcggt ccgtgcacag tgccgtcaat cacacgccca
     1201 cacacctgct gaaggaaatc attctggtgg atgacaacag cgacgaagag gagctgaagg
     1261 tccccctaga ggagtatgtc cacaaacgct accccgggct ggtgaaggtg gtaagaaatc
     1321 agaagaggga aggcctgatc cgcgctcgca ttgagggctg gaaggtggct accgggcagg
     1381 tcactggctt ctttgatgcc cacgtggaat tcaccgctgg ctgggctgag ccggttctat
     1441 cccgcatcca ggaaaaccgg aagcgtgtga tcctcccctc cattgacaac atcaaacagg
     1501 acaactttga ggtgcagcgg tacgagaact cggcccacgg gtacagctgg gagctgtggt
     1561 gcatgtacat cagcccccca aaagactggt gggacgccgg agacccttct ctccccatca
     1621 ggaccccagc catgataggc tgctcgttcg tggtcaacag gaagttcttc ggtgaaattg
     1681 gtcttctgga tcctggcatg gatgtatacg gaggagaaaa tattgaactg ggaatcaagg
     1741 tatggctctg tgggggcagc atggaggtcc ttccttgctc acgggtggcc cacattgagc
     1801 ggaagaagaa gccatataat agcaacattg gcttctacac caagaggaat gctcttcgcg
     1861 ttgctgaggt ctggatggac gattacaagt ctcatgtgta catagcgtgg aacctgccgc
     1921 tggagaatcc gggaattgac atcggtgatg tctccgaaag aagagcatta aggaaaagtt
     1981 taaagtgtaa gaatttccag tggtacctgg accatgttta cccagaaatg agaagataca
     2041 ataataccgt tgcttacggg gagcttcgca acaacaaggc aaaagacgtc tgcttggacc
     2101 aggggccgct ggagaaccac acagcaatat tgtatccgtg ccatggctgg ggaccacagc
     2161 ttgcccgcta caccaaggaa ggcttcctgc acttgggtgc cctggggacc accacactcc
     2221 tccctgacac ccgctgcctg gtggacaact ccaagagtcg gctgccccag ctcctggact
     2281 gcgacaaggt caagagcagc ctgtacaagc gctggaactt catccagaat ggagccatca
     2341 tgaacaaggg cacgggacgc tgcctggagg tggagaaccg gggcctggct ggcatcgacc
     2401 tcatcctccg cagctgcaca ggtcagaggt ggaccattaa gaactccatc aagtagaggg
     2461 agggagctgg ggcactggag cctggccccc aggacatggc tgctcccccc aacatctgga
     2521 ccagctgccc tggcggagag acagcaaggg gccggcaggt gctcgatggg ccccccaggg
     2581 cttctccagg gcagcacagg gaccccggat gaagactctg tcccccctca ggcattcagc
     2641 tgcccacaag tttcctgcac cctggaaaag ccccccaccc ttcctctggg aaactgacag
     2701 ctgtcttcca cagcctctga tgtggacctg gtactgagga gcaagactgt ccagttctcc
     2761 tccacatctc ccatcccaga atcaggatct gggactggca gggtcccctc ctgtgtctca
     2821 tctcttgcag cagcagctgc tgaactccag ccatcaacac ggtgggaggc agcgggggct
     2881 tcagccatgt cctagctccc cgccctaaaa ggaggcagtg aggaccaggc actatttcct
     2941 ccgaggttac ttctacccag atgacacctg cctgttcacg ccccaaggca gctactgccc
     3001 ctaacccttc ccaccagggt agctttgggc actgcagctc tggacttttc tggcccctcc
     3061 tgagatgacc tgatggagct gatgctttct ctcctaatcc ctgggcacta ggctcttatc
     3121 agtgtgcttg ggccagctct cctgcctgtg tctagaggaa gccagagaca gaaataggct
     3181 aagcctgcag taggatctca gccacaaggg ccccgcagga tggagctggg tcaaggacca
     3241 gggagccctg actcccagag gctgccaccg gggagaagca gcggtcctcc atccagaacc
     3301 taagggctga agcaaaggct gccaggaccc ttgaagatgc ttttggctca cctcatttca
     3361 ccccacgctc tgctggctgg cagaggagaa ggcagtcgtt tcctctctga agagtatttt
     3421 tttcgattgc cctctggtta gggtgcacat ataaatcaga gttaatatat gaacgcgtgt
     3481 gcatgcacaa gtgtgtgtgt gcctgcgtgc tgtgcgtggc agggtgtgtg tgtgtgtgtc
     3541 tggctgtgcg ttccggagtg tgtgacgatg ctgacctagc tgtgtggcct tgggcttgct
     3601 gcttcattac tcacctggat ggggacgagg gatgagaagg gtgtgggttt ggccccatgt
     3661 cactggccgg aaggatgtgt ctcagccctg ccctgtgggg tgcccccgat gggaggctgt
     3721 cccatctccc agtccccatc tctttttccc cacactgtcc ctggccaagc cctgcccaga
     3781 gctgaaccct gtagctgccc ccttgccctg tgtgggattc gcagtgtctc atttggtgac
     3841 gtcttactgg tgatcatctc ctcaccccat ctcccacctt gtggaataaa tacatgttag
     3901 cacttccca
//
