NCBI 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].
Protein
Protein (NP_071924)
CBM13-ppGalNAc-T17
Polypeptide N-acetylgalactosaminyltransferase 17 (EC 2.4.1.41) (Polypeptide GalNAc transferase-like protein 3) (GalNAc-T-like protein 3) (pp-GaNTase-like protein 3) (Protein-UDP acetylgalactosaminyltransferase-like protein 3) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3) (Williams-Beuren syndrome chromosomal region 17 protein)
GALNT17
polypeptide N-acetylgalactosaminyltransferase 17
Undefined
Curated
Ricin-like
R-Type Lectins
b-trefoil
GalNAc / Mucin-type glycopeptide
NP_071924
64409
Q6IS24
ENSP00000329654.5
Q6IS24
Undefined
10.1074/jbc.M111.273722
neXtProt, PFAM, InterPro
Protein sequence and protein families (fasta) (598 amino acids) Download
MASLRRVKVLLVLNLIAVAGFVLFLAKCRPIAVRSGDAFHEIRPRAEVANLSAHSASPIQDAVLKRLSLLEDIVYRQLNGLSKSLGLIEGYGGRGKGGLPATLSPAEEEKAKGPHEKYGYNSYLSEKISLDRSIPDYRPTKCKELKYSKDLPQISIIFIFVNEALSVILRSVHSAVNHTPTHLLKEIILVDDNSDEEELKVPLEEYVHKRYPGLVKVVRNQKREGLIRARIEGWKVATGQVTGFFDAHVEFTAGWAEPVLSRIQENRKRVILPSIDNIKQDNFEVQRYENSAHGYSWELWCMYISPPKDWWDAGDPSLPIRTPAMIGCSFVVNRKFFGEIGLLDPGMDVYGGENIELGIKVWLCGGSMEVLPCSRVAHIERKKKPYNSNIGFYTKRNALRVAEVWMDDYKSHVYIAWNLPLENPGIDIGDVSERRALRKSLKCKNFQWYLDHVYPEMRRYNNTVAYGELRNNKAKDVCLDQGPLENHTAILYPCHGWGPQLARYTKEGFLHLGALGTTTLLPDTRCLVDNSKSRLPQLLDCDKVKSSLYKRWNFIQNGAIMNKGTGRCLEVENRGLAGIDLILRSCTGQRWTIKNSIK
No structure currently available in the PDB RCSB Databank.
Structural models
AlphaFold v2: AF-Q6IS24-F1Download
  Model Confidence:
  •    Very high (pLDDT > 90)
  •    Confident (90 > pLDDT > 70)
  •    Low (70 > pLDDT > 50)
  •    Very low (pLDDT < 50)

  AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Some regions with low pLDDT may be unstructured in isolation.

SWISS-MODEL structural models
SWISS-MODEL structural model
Modeller structural model (Homology modelling pipeline), Error: [1.66, 2.18] ÅDownload
The location of the lectin domain structural model is: 465-594
We infer [1.66, 2.18] Å as the interval of error of this structural model.
Template: 1XHB chain: A, O08912, NP_001153876.1, sequence identity: 20.8%, coverage: 90.0%, location in sequence: 95-553, (95-553 in PDB).
Show the alignment used for the construction of the structural model, Download.
Show the plot of DOPE energy score, Download.
Ligand
Glycan ligands from structural data
No crystal structures of complexes with glycan ligand.
Expression
Human Protein Atlas
GeneCards
mRNA expression in normal human tissues for GALNT17 Gene
ProteomicsDB
References
NCBI References (10 PubMed Identifiers)
  • Circ_WBSCR17 aggravates inflammatory responses and fibrosis by targeting miR-185-5p/SOX6 regulatory axis in high glucose-induced human kidney tubular cells. [32798559]
  • Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study. [32310270]
  • A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3. [27876814]
  • Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. [24939585]
  • Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. [23377640]
  • Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. [22566498]
  • Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. [19240061]
  • Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene. [15744064]
  • Identification of additional transcripts in the Williams-Beuren syndrome critical region. [12073013]
  • 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). [11013070]
UniProt Main References (2 PubMed Identifiers)
  • The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). [15489334]
  • The full-ORF clone resource of the German cDNA Consortium. [17974005]
RNA
RNA (Transcript ID: NM_022479.3)
NM_022479.3
polypeptide N-acetylgalactosaminyltransferase 17
All isoforms of GALNT17 containing a lectin domain
ENST00000333538.10
660..2456 (or 71132803.. 71712146)
71132144.. 71713599
NCBI Matured mRNA sequence 3909 NTPDownload 
m7G-5')ppp(5'-GAGACUUGAGCGUGACUGCGGAGCCUGGAGGAUGCGGGCUCCCCGAGCGGGCUUCCCCUCUGCCCGGCGCGAUGGAGCGGGUCGGUGAGCGGAACAAAGGCGCCUGCCCGGGGGAGCGGGUCUUCCGCUGAAGAGCGCGGGUGGCGCGCCGCGACGGCCGCCUGCGGGCCAAGGUGGGAGGCUGUGCGGCCCCAGGCGCGGCGCGCUCCGCCGUGGGCGGGCGGCGAUCCCUGAGUCCGGCACCUGUGCGCCGCUCCCUCUGUGCCUCCCGGGCAGCCCCGCCUGCCGGCCUCGGAGUCCGCGGCGCCGGCGGCUAGAGGUCCAGAGGCGAACCACUUGCUGGUGCAGAAGAGAAACCCUCAAAUCCCUGGCCUUUCGCGGAGACGCCUGGACGGGGCCGUGCGCCGUGGACUGAGCAGGCGUCUCGGGGAGCACUUCUGCAGAGCGAGGACUUCCAUGUGAGCGAUUCCGUUCUCCCCACCACCAAUCCGACCUCCCAGCCGUCUCCGCCGCCCGAGCAUCCUUGAGGUGGGACGAGCAGGGGCUUGGAUCCCUGCCGGCCGUCUGGUGUGUGAGGCUUGCACGGCCCCUGGCUGCCCCGCGCCUCGCCGGAGCCCGAGGGGGCGCAGGUCCGGGGCGAGGGCCGGCCGGGCUGUUUGAUGGCUUCACUGAGAAGAGUCAAAGUGCUGUUGGUGUUGAACUUGAUCGCGGUAGCCGGCUUCGUGCUCUUCCUGGCCAAGUGCCGGCCCAUCGCGGUGCGCAGCGGAGACGCCUUCCACGAGAUCCGGCCGCGCGCCGAGGUGGCCAACCUCAGCGCGCACAGCGCCAGCCCCAUCCAGGAUGCGGUCCUGAAGCGCCUGUCGCUGCUGGAGGACAUCGUGUACCGGCAGCUGAAUGGCUUAUCCAAAUCCCUUGGGCUCAUUGAAGGUUAUGGUGGGCGGGGUAAAGGGGGCCUUCCGGCUACUCUUUCCCCGGCUGAAGAAGAAAAGGCUAAGGGACCCCAUGAGAAGUAUGGCUACAAUUCAUACCUCAGUGAAAAAAUUUCACUGGACCGUUCCAUUCCGGAUUAUCGUCCCACCAAGUGUAAGGAGCUCAAGUACUCCAAGGACCUGCCCCAGAUAUCCAUCAUAUUCAUCUUCGUGAACGAGGCCCUGUCGGUGAUCCUGCGGUCCGUGCACAGUGCCGUCAAUCACACGCCCACACACCUGCUGAAGGAAAUCAUUCUGGUGGAUGACAACAGCGACGAAGAGGAGCUGAAGGUCCCCCUAGAGGAGUAUGUCCACAAACGCUACCCCGGGCUGGUGAAGGUGGUAAGAAAUCAGAAGAGGGAAGGCCUGAUCCGCGCUCGCAUUGAGGGCUGGAAGGUGGCUACCGGGCAGGUCACUGGCUUCUUUGAUGCCCACGUGGAAUUCACCGCUGGCUGGGCUGAGCCGGUUCUAUCCCGCAUCCAGGAAAACCGGAAGCGUGUGAUCCUCCCCUCCAUUGACAACAUCAAACAGGACAACUUUGAGGUGCAGCGGUACGAGAACUCGGCCCACGGGUACAGCUGGGAGCUGUGGUGCAUGUACAUCAGCCCCCCAAAAGACUGGUGGGACGCCGGAGACCCUUCUCUCCCCAUCAGGACCCCAGCCAUGAUAGGCUGCUCGUUCGUGGUCAACAGGAAGUUCUUCGGUGAAAUUGGUCUUCUGGAUCCUGGCAUGGAUGUAUACGGAGGAGAAAAUAUUGAACUGGGAAUCAAGGUAUGGCUCUGUGGGGGCAGCAUGGAGGUCCUUCCUUGCUCACGGGUGGCCCACAUUGAGCGGAAGAAGAAGCCAUAUAAUAGCAACAUUGGCUUCUACACCAAGAGGAAUGCUCUUCGCGUUGCUGAGGUCUGGAUGGACGAUUACAAGUCUCAUGUGUACAUAGCGUGGAACCUGCCGCUGGAGAAUCCGGGAAUUGACAUCGGUGAUGUCUCCGAAAGAAGAGCAUUAAGGAAAAGUUUAAAGUGUAAGAAUUUCCAGUGGUACCUGGACCAUGUUUACCCAGAAAUGAGAAGAUACAAUAAUACCGUUGCUUACGGGGAGCUUCGCAACAACAAGGCAAAAGACGUCUGCUUGGACCAGGGGCCGCUGGAGAACCACACAGCAAUAUUGUAUCCGUGCCAUGGCUGGGGACCACAGCUUGCCCGCUACACCAAGGAAGGCUUCCUGCACUUGGGUGCCCUGGGGACCACCACACUCCUCCCUGACACCCGCUGCCUGGUGGACAACUCCAAGAGUCGGCUGCCCCAGCUCCUGGACUGCGACAAGGUCAAGAGCAGCCUGUACAAGCGCUGGAACUUCAUCCAGAAUGGAGCCAUCAUGAACAAGGGCACGGGACGCUGCCUGGAGGUGGAGAACCGGGGCCUGGCUGGCAUCGACCUCAUCCUCCGCAGCUGCACAGGUCAGAGGUGGACCAUUAAGAACUCCAUCAAGUAGAGGGAGGGAGCUGGGGCACUGGAGCCUGGCCCCCAGGACAUGGCUGCUCCCCCCAACAUCUGGACCAGCUGCCCUGGCGGAGAGACAGCAAGGGGCCGGCAGGUGCUCGAUGGGCCCCCCAGGGCUUCUCCAGGGCAGCACAGGGACCCCGGAUGAAGACUCUGUCCCCCCUCAGGCAUUCAGCUGCCCACAAGUUUCCUGCACCCUGGAAAAGCCCCCCACCCUUCCUCUGGGAAACUGACAGCUGUCUUCCACAGCCUCUGAUGUGGACCUGGUACUGAGGAGCAAGACUGUCCAGUUCUCCUCCACAUCUCCCAUCCCAGAAUCAGGAUCUGGGACUGGCAGGGUCCCCUCCUGUGUCUCAUCUCUUGCAGCAGCAGCUGCUGAACUCCAGCCAUCAACACGGUGGGAGGCAGCGGGGGCUUCAGCCAUGUCCUAGCUCCCCGCCCUAAAAGGAGGCAGUGAGGACCAGGCACUAUUUCCUCCGAGGUUACUUCUACCCAGAUGACACCUGCCUGUUCACGCCCCAAGGCAGCUACUGCCCCUAACCCUUCCCACCAGGGUAGCUUUGGGCACUGCAGCUCUGGACUUUUCUGGCCCCUCCUGAGAUGACCUGAUGGAGCUGAUGCUUUCUCUCCUAAUCCCUGGGCACUAGGCUCUUAUCAGUGUGCUUGGGCCAGCUCUCCUGCCUGUGUCUAGAGGAAGCCAGAGACAGAAAUAGGCUAAGCCUGCAGUAGGAUCUCAGCCACAAGGGCCCCGCAGGAUGGAGCUGGGUCAAGGACCAGGGAGCCCUGACUCCCAGAGGCUGCCACCGGGGAGAAGCAGCGGUCCUCCAUCCAGAACCUAAGGGCUGAAGCAAAGGCUGCCAGGACCCUUGAAGAUGCUUUUGGCUCACCUCAUUUCACCCCACGCUCUGCUGGCUGGCAGAGGAGAAGGCAGUCGUUUCCUCUCUGAAGAGUAUUUUUUUCGAUUGCCCUCUGGUUAGGGUGCACAUAUAAAUCAGAGUUAAUAUAUGAACGCGUGUGCAUGCACAAGUGUGUGUGUGCCUGCGUGCUGUGCGUGGCAGGGUGUGUGUGUGUGUGUCUGGCUGUGCGUUCCGGAGUGUGUGACGAUGCUGACCUAGCUGUGUGGCCUUGGGCUUGCUGCUUCAUUACUCACCUGGAUGGGGACGAGGGAUGAGAAGGGUGUGGGUUUGGCCCCAUGUCACUGGCCGGAAGGAUGUGUCUCAGCCCUGCCCUGUGGGGUGCCCCCGAUGGGAGGCUGUCCCAUCUCCCAGUCCCCAUCUCUUUUUCCCCACACUGUCCCUGGCCAAGCCCUGCCCAGAGCUGAACCCUGUAGCUGCCCCCUUGCCCUGUGUGGGAUUCGCAGUGUCUCAUUUGGUGACGUCUUACUGGUGAUCAUCUCCUCACCCCAUCUCCCACCUUGUGGAAUAAAUACAUGUUAGCACUUCCCA-3'- Poly-A tail
  • Coding region
NCBI Matured mRNA sequence viewer
;
More about the NCBI sViewer.
DNA
DNA (Gene ID: 64409)
GALNT17
polypeptide N-acetylgalactosaminyltransferase 17
NC_000007.14
7  71132803.. 71712146
71132803.. 71712146
strand +
CCDS5540.1
MGI:2137594
ClinVar, dbVar
ENSG00000185274
GALNTL3, GalNAc-T5L, GalNAc-T19, GalNAc-T17, ppGalNAc-T17
uc003tvy.5
INSDC: AF410457
16347
615137
OTTHUMG00000129783
ENA, DDBJ, Monarch
NCBI CDS Gene viewer
More about the NCBI sViewer.
NCBI CDS gene sequence (1797 bp)
5'-ATGGCTTCACTGAGAAGAGTCAAAGTGCTGTTGGTGTTGAACTTGATCGCGGTAGCCGGCTTCGTGCTCTTCCTGGCCAAGTGCCGGCCCATCGCGGTGCGCAGCGGAGACGCCTTCCACGAGATCCGGCCGCGCGCCGAGGTGGCCAACCTCAGCGCGCACAGCGCCAGCCCCATCCAGGATGCGGTCCTGAAGCGCCTGTCGCTGCTGGAGGACATCGTGTACCGGCAGCTGAATGGCTTATCCAAATCCCTTGGGCTCATTGAAGGTTATGGTGGGCGGGGTAAAGGGGGCCTTCCGGCTACTCTTTCCCCGGCTGAAGAAGAAAAGGCTAAGGGACCCCATGAGAAGTATGGCTACAATTCATACCTCAGTGAAAAAATTTCACTGGACCGTTCCATTCCGGATTATCGTCCCACCAAGTGTAAGGAGCTCAAGTACTCCAAGGACCTGCCCCAGATATCCATCATATTCATCTTCGTGAACGAGGCCCTGTCGGTGATCCTGCGGTCCGTGCACAGTGCCGTCAATCACACGCCCACACACCTGCTGAAGGAAATCATTCTGGTGGATGACAACAGCGACGAAGAGGAGCTGAAGGTCCCCCTAGAGGAGTATGTCCACAAACGCTACCCCGGGCTGGTGAAGGTGGTAAGAAATCAGAAGAGGGAAGGCCTGATCCGCGCTCGCATTGAGGGCTGGAAGGTGGCTACCGGGCAGGTCACTGGCTTCTTTGATGCCCACGTGGAATTCACCGCTGGCTGGGCTGAGCCGGTTCTATCCCGCATCCAGGAAAACCGGAAGCGTGTGATCCTCCCCTCCATTGACAACATCAAACAGGACAACTTTGAGGTGCAGCGGTACGAGAACTCGGCCCACGGGTACAGCTGGGAGCTGTGGTGCATGTACATCAGCCCCCCAAAAGACTGGTGGGACGCCGGAGACCCTTCTCTCCCCATCAGGACCCCAGCCATGATAGGCTGCTCGTTCGTGGTCAACAGGAAGTTCTTCGGTGAAATTGGTCTTCTGGATCCTGGCATGGATGTATACGGAGGAGAAAATATTGAACTGGGAATCAAGGTATGGCTCTGTGGGGGCAGCATGGAGGTCCTTCCTTGCTCACGGGTGGCCCACATTGAGCGGAAGAAGAAGCCATATAATAGCAACATTGGCTTCTACACCAAGAGGAATGCTCTTCGCGTTGCTGAGGTCTGGATGGACGATTACAAGTCTCATGTGTACATAGCGTGGAACCTGCCGCTGGAGAATCCGGGAATTGACATCGGTGATGTCTCCGAAAGAAGAGCATTAAGGAAAAGTTTAAAGTGTAAGAATTTCCAGTGGTACCTGGACCATGTTTACCCAGAAATGAGAAGATACAATAATACCGTTGCTTACGGGGAGCTTCGCAACAACAAGGCAAAAGACGTCTGCTTGGACCAGGGGCCGCTGGAGAACCACACAGCAATATTGTATCCGTGCCATGGCTGGGGACCACAGCTTGCCCGCTACACCAAGGAAGGCTTCCTGCACTTGGGTGCCCTGGGGACCACCACACTCCTCCCTGACACCCGCTGCCTGGTGGACAACTCCAAGAGTCGGCTGCCCCAGCTCCTGGACTGCGACAAGGTCAAGAGCAGCCTGTACAAGCGCTGGAACTTCATCCAGAATGGAGCCATCATGAACAAGGGCACGGGACGCTGCCTGGAGGTGGAGAACCGGGGCCTGGCTGGCATCGACCTCATCCTCCGCAGCTGCACAGGTCAGAGGTGGACCATTAAGAACTCCATCAAGTAG-3'
NCBI CDS gene sequence with introns (location: 71132803.. 71712146) (579344 bp)Download
NCBI Gene Viewer (CDS + introns)
NCBI CDS gene sequence with introns, 5'UTR and 3'UTR (location: 71132144.. 71713599) (581456 bp)Download
NCBI Gene Viewer (CDS + introns + Untranslated regions)
NCBI gene sequence (location: [71132144 - 1000].. 71713599) (582456 bp)Download
NCBI Gene Viewer (CDS + introns + Untranslated regions + 1000 dNTP to potentially reach the promotor)
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