UniProtKB - Q6IS24 (GLT17_HUMAN)
Protein
Polypeptide N-acetylgalactosaminyltransferase 17
Gene
GALNT17
Organism
Homo sapiens (Human)
Status
Functioni
May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.By similarity
Catalytic activityi
- L-seryl-[protein] + UDP-N-acetyl-α-D-galactosamine = 3-O-[N-acetyl-α-D-galactosaminyl]-L-seryl-[protein] + H+ + UDPBy similarityEC:2.4.1.41By similarity
- L-threonyl-[protein] + UDP-N-acetyl-α-D-galactosamine = 3-O-[N-acetyl-α-D-galactosaminyl]-L-threonyl-[protein] + H+ + UDPBy similarityEC:2.4.1.41By similarity
Cofactori
Mn2+By similarity
: protein glycosylation Pathwayi
This protein is involved in the pathway protein glycosylation, which is part of Protein modification.By similarityView all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 192 | SubstrateBy similarity | 1 | |
Binding sitei | 223 | SubstrateBy similarity | 1 | |
Metal bindingi | 246 | ManganeseBy similarity | 1 | |
Metal bindingi | 248 | ManganeseBy similarity | 1 | |
Metal bindingi | 378 | ManganeseBy similarity | 1 | |
Binding sitei | 381 | SubstrateBy similarity | 1 | |
Binding sitei | 386 | SubstrateBy similarity | 1 |
GO - Molecular functioni
- carbohydrate binding Source: UniProtKB-KW
- metal ion binding Source: UniProtKB-KW
- polypeptide N-acetylgalactosaminyltransferase activity Source: UniProtKB-EC
GO - Biological processi
- protein glycosylation Source: UniProtKB-UniPathway
Keywordsi
Molecular function | Glycosyltransferase, Transferase |
Ligand | Lectin, Manganese, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q6IS24 |
Reactomei | R-HSA-913709, O-linked glycosylation of mucins |
UniPathwayi | UPA00378 |
Protein family/group databases
CAZyi | CBM13, Carbohydrate-Binding Module Family 13 GT27, Glycosyltransferase Family 27 |
Names & Taxonomyi
Protein namesi | Recommended name: Polypeptide N-acetylgalactosaminyltransferase 17Curated (EC:2.4.1.41By similarity)Alternative name(s): Polypeptide GalNAc transferase-like protein 3 Short name: GalNAc-T-like protein 3 Short name: 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 protein1 PublicationImported |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:16347, GALNT17 |
MIMi | 615137, gene |
neXtProti | NX_Q6IS24 |
VEuPathDBi | HostDB:ENSG00000185274.11 |
Subcellular locationi
Golgi apparatus
- Golgi apparatus membrane By similarity; Single-pass type II membrane protein By similarity
Golgi apparatus
- Golgi apparatus Source: GO_Central
- Golgi membrane Source: UniProtKB-SubCell
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 6 | CytoplasmicSequence analysis | 6 | |
Transmembranei | 7 – 27 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 21 | |
Topological domaini | 28 – 598 | LumenalSequence analysisAdd BLAST | 571 |
Keywords - Cellular componenti
Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
WBSCR17 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Keywords - Diseasei
Williams-Beuren syndromeOrganism-specific databases
DisGeNETi | 64409 |
OpenTargetsi | ENSG00000185274 |
PharmGKBi | PA38124 |
Miscellaneous databases
Pharosi | Q6IS24, Tbio |
Genetic variation databases
BioMutai | GALNT17 |
DMDMi | 51315852 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000059139 | 1 – 598 | Polypeptide N-acetylgalactosaminyltransferase 17Add BLAST | 598 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 50 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 142 ↔ 373 | PROSITE-ProRule annotation | ||
Disulfide bondi | 364 ↔ 443 | PROSITE-ProRule annotation | ||
Glycosylationi | 461 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 478 ↔ 494 | PROSITE-ProRule annotation | ||
Glycosylationi | 486 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 526 ↔ 541 | PROSITE-ProRule annotation | ||
Disulfide bondi | 568 ↔ 586 | PROSITE-ProRule annotation |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q6IS24 |
MassIVEi | Q6IS24 |
PaxDbi | Q6IS24 |
PeptideAtlasi | Q6IS24 |
PRIDEi | Q6IS24 |
ProteomicsDBi | 66491 |
PTM databases
GlyGeni | Q6IS24, 3 sites |
iPTMneti | Q6IS24 |
PhosphoSitePlusi | Q6IS24 |
Expressioni
Tissue specificityi
Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen.1 Publication
Gene expression databases
Bgeei | ENSG00000185274, Expressed in cerebellum and 175 other tissues |
ExpressionAtlasi | Q6IS24, baseline and differential |
Genevisiblei | Q6IS24, HS |
Organism-specific databases
HPAi | ENSG00000185274, Tissue enhanced (brain) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 122161, 1 interactor |
STRINGi | 9606.ENSP00000329654 |
Miscellaneous databases
RNActi | Q6IS24, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 465 – 594 | Ricin B-type lectinPROSITE-ProRule annotationAdd BLAST | 130 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 151 – 262 | Catalytic subdomain AAdd BLAST | 112 | |
Regioni | 319 – 381 | Catalytic subdomain BAdd BLAST | 63 |
Domaini
There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.By similarity
The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.By similarity
Sequence similaritiesi
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3736, Eukaryota |
GeneTreei | ENSGT00940000156014 |
InParanoidi | Q6IS24 |
OMAi | KVSHLCM |
OrthoDBi | 273006at2759 |
PhylomeDBi | Q6IS24 |
TreeFami | TF313267 |
Family and domain databases
CDDi | cd00161, RICIN, 1 hit |
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR001173, Glyco_trans_2-like IPR029044, Nucleotide-diphossugar_trans IPR035992, Ricin_B-like_lectins IPR000772, Ricin_B_lectin |
Pfami | View protein in Pfam PF00535, Glycos_transf_2, 1 hit PF00652, Ricin_B_lectin, 1 hit |
SMARTi | View protein in SMART SM00458, RICIN, 1 hit |
SUPFAMi | SSF50370, SSF50370, 1 hit SSF53448, SSF53448, 1 hit |
PROSITEi | View protein in PROSITE PS50231, RICIN_B_LECTIN, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q6IS24-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MASLRRVKVL LVLNLIAVAG FVLFLAKCRP IAVRSGDAFH EIRPRAEVAN
60 70 80 90 100
LSAHSASPIQ DAVLKRLSLL EDIVYRQLNG LSKSLGLIEG YGGRGKGGLP
110 120 130 140 150
ATLSPAEEEK AKGPHEKYGY NSYLSEKISL DRSIPDYRPT KCKELKYSKD
160 170 180 190 200
LPQISIIFIF VNEALSVILR SVHSAVNHTP THLLKEIILV DDNSDEEELK
210 220 230 240 250
VPLEEYVHKR YPGLVKVVRN QKREGLIRAR IEGWKVATGQ VTGFFDAHVE
260 270 280 290 300
FTAGWAEPVL SRIQENRKRV ILPSIDNIKQ DNFEVQRYEN SAHGYSWELW
310 320 330 340 350
CMYISPPKDW WDAGDPSLPI RTPAMIGCSF VVNRKFFGEI GLLDPGMDVY
360 370 380 390 400
GGENIELGIK VWLCGGSMEV LPCSRVAHIE RKKKPYNSNI GFYTKRNALR
410 420 430 440 450
VAEVWMDDYK SHVYIAWNLP LENPGIDIGD VSERRALRKS LKCKNFQWYL
460 470 480 490 500
DHVYPEMRRY NNTVAYGELR NNKAKDVCLD QGPLENHTAI LYPCHGWGPQ
510 520 530 540 550
LARYTKEGFL HLGALGTTTL LPDTRCLVDN SKSRLPQLLD CDKVKSSLYK
560 570 580 590
RWNFIQNGAI MNKGTGRCLE VENRGLAGID LILRSCTGQR WTIKNSIK
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WV18 | A0A087WV18_HUMAN | Polypeptide N-acetylgalactosaminylt... | GALNT17 | 519 | Annotation score: | ||
H7BZX9 | H7BZX9_HUMAN | Polypeptide N-acetylgalactosaminylt... | GALNT17 | 188 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 596 | S → P in AAH69997 (PubMed:15489334).Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF410457 mRNA Translation: AAM62306.1 BC067524 mRNA Translation: AAH67524.1 BC067525 mRNA Translation: AAH67525.1 BC069624 mRNA Translation: AAH69624.1 BC069628 mRNA Translation: AAH69628.1 BC069636 mRNA Translation: AAH69636.1 BC069645 mRNA Translation: AAH69645.1 BC069997 mRNA Translation: AAH69997.1 AL137431 mRNA Translation: CAB70734.1 |
CCDSi | CCDS5540.1 |
PIRi | T46260 |
RefSeqi | NP_071924.1, NM_022479.2 |
Genome annotation databases
Ensembli | ENST00000333538; ENSP00000329654; ENSG00000185274 |
GeneIDi | 64409 |
KEGGi | hsa:64409 |
UCSCi | uc003tvy.5, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Functional Glycomics Gateway - GTase Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF410457 mRNA Translation: AAM62306.1 BC067524 mRNA Translation: AAH67524.1 BC067525 mRNA Translation: AAH67525.1 BC069624 mRNA Translation: AAH69624.1 BC069628 mRNA Translation: AAH69628.1 BC069636 mRNA Translation: AAH69636.1 BC069645 mRNA Translation: AAH69645.1 BC069997 mRNA Translation: AAH69997.1 AL137431 mRNA Translation: CAB70734.1 |
CCDSi | CCDS5540.1 |
PIRi | T46260 |
RefSeqi | NP_071924.1, NM_022479.2 |
3D structure databases
SMRi | Q6IS24 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 122161, 1 interactor |
STRINGi | 9606.ENSP00000329654 |
Protein family/group databases
CAZyi | CBM13, Carbohydrate-Binding Module Family 13 GT27, Glycosyltransferase Family 27 |
PTM databases
GlyGeni | Q6IS24, 3 sites |
iPTMneti | Q6IS24 |
PhosphoSitePlusi | Q6IS24 |
Genetic variation databases
BioMutai | GALNT17 |
DMDMi | 51315852 |
Proteomic databases
EPDi | Q6IS24 |
MassIVEi | Q6IS24 |
PaxDbi | Q6IS24 |
PeptideAtlasi | Q6IS24 |
PRIDEi | Q6IS24 |
ProteomicsDBi | 66491 |
Protocols and materials databases
Antibodypediai | 2698, 103 antibodies |
DNASUi | 64409 |
Genome annotation databases
Ensembli | ENST00000333538; ENSP00000329654; ENSG00000185274 |
GeneIDi | 64409 |
KEGGi | hsa:64409 |
UCSCi | uc003tvy.5, human |
Organism-specific databases
CTDi | 64409 |
DisGeNETi | 64409 |
GeneCardsi | GALNT17 |
HGNCi | HGNC:16347, GALNT17 |
HPAi | ENSG00000185274, Tissue enhanced (brain) |
MIMi | 615137, gene |
neXtProti | NX_Q6IS24 |
OpenTargetsi | ENSG00000185274 |
PharmGKBi | PA38124 |
VEuPathDBi | HostDB:ENSG00000185274.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3736, Eukaryota |
GeneTreei | ENSGT00940000156014 |
InParanoidi | Q6IS24 |
OMAi | KVSHLCM |
OrthoDBi | 273006at2759 |
PhylomeDBi | Q6IS24 |
TreeFami | TF313267 |
Enzyme and pathway databases
UniPathwayi | UPA00378 |
PathwayCommonsi | Q6IS24 |
Reactomei | R-HSA-913709, O-linked glycosylation of mucins |
Miscellaneous databases
BioGRID-ORCSi | 64409, 10 hits in 987 CRISPR screens |
ChiTaRSi | GALNT17, human |
GeneWikii | WBSCR17 |
GenomeRNAii | 64409 |
Pharosi | Q6IS24, Tbio |
PROi | PR:Q6IS24 |
RNActi | Q6IS24, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000185274, Expressed in cerebellum and 175 other tissues |
ExpressionAtlasi | Q6IS24, baseline and differential |
Genevisiblei | Q6IS24, HS |
Family and domain databases
CDDi | cd00161, RICIN, 1 hit |
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR001173, Glyco_trans_2-like IPR029044, Nucleotide-diphossugar_trans IPR035992, Ricin_B-like_lectins IPR000772, Ricin_B_lectin |
Pfami | View protein in Pfam PF00535, Glycos_transf_2, 1 hit PF00652, Ricin_B_lectin, 1 hit |
SMARTi | View protein in SMART SM00458, RICIN, 1 hit |
SUPFAMi | SSF50370, SSF50370, 1 hit SSF53448, SSF53448, 1 hit |
PROSITEi | View protein in PROSITE PS50231, RICIN_B_LECTIN, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GLT17_HUMAN | |
Accessioni | Q6IS24Primary (citable) accession number: Q6IS24 Secondary accession number(s): Q8NFV9, Q9NTA8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 16, 2004 |
Last sequence update: | August 16, 2004 | |
Last modified: | April 7, 2021 | |
This is version 141 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families