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Q6IS24

- GLTL3_HUMAN

UniProt

Q6IS24 - GLTL3_HUMAN

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Protein
Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3
Gene
WBSCR17, GALNTL3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

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

UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.

Cofactori

Manganese By similarity.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei192 – 1921Substrate By similarity
Binding sitei223 – 2231Substrate By similarity
Metal bindingi246 – 2461Manganese By similarity
Metal bindingi248 – 2481Manganese By similarity
Metal bindingi378 – 3781Manganese By similarity
Binding sitei381 – 3811Substrate By similarity
Binding sitei386 – 3861Substrate By similarity

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. polypeptide N-acetylgalactosaminyltransferase activity Source: UniProtKB-EC

GO - Biological processi

  1. protein glycosylation Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Lectin, Manganese, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_115606. O-linked glycosylation of mucins.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiCBM13. Carbohydrate-Binding Module Family 13.
GT27. Glycosyltransferase Family 27.

Names & Taxonomyi

Protein namesi
Recommended name:
Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 (EC:2.4.1.41)
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 protein
Gene namesi
Name:WBSCR17
Synonyms:GALNTL3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:16347. WBSCR17.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66Cytoplasmic Reviewed prediction
Transmembranei7 – 2721Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini28 – 598571Lumenal Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & 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 syndrome

Organism-specific databases

PharmGKBiPA38124.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 598598Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3
PRO_0000059139Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi50 – 501N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi142 ↔ 373 By similarity
Disulfide bondi364 ↔ 443 By similarity
Glycosylationi461 – 4611N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi478 ↔ 494 By similarity
Glycosylationi486 – 4861N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi526 ↔ 541 By similarity
Disulfide bondi568 ↔ 586 By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ6IS24.
PRIDEiQ6IS24.

PTM databases

PhosphoSiteiQ6IS24.

Expressioni

Tissue specificityi

Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen.1 Publication

Gene expression databases

ArrayExpressiQ6IS24.
BgeeiQ6IS24.
CleanExiHS_WBSCR17.
GenevestigatoriQ6IS24.

Organism-specific databases

HPAiHPA013624.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000329654.

Structurei

3D structure databases

ProteinModelPortaliQ6IS24.
SMRiQ6IS24. Positions 93-595.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini465 – 594130Ricin B-type lectin
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni151 – 262112Catalytic subdomain A
Add
BLAST
Regioni319 – 38163Catalytic subdomain B
Add
BLAST

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 helix

Phylogenomic databases

eggNOGiNOG259711.
HOGENOMiHOG000038228.
HOVERGENiHBG051699.
InParanoidiQ6IS24.
KOiK00710.
OMAiRYENSGH.
OrthoDBiEOG7JX33Q.
PhylomeDBiQ6IS24.
TreeFamiTF313267.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamiPF00535. Glycos_transf_2. 1 hit.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
SMARTiSM00458. RICIN. 1 hit.
[Graphical view]
SUPFAMiSSF50370. SSF50370. 1 hit.
SSF53448. SSF53448. 1 hit.
PROSITEiPS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q6IS24-1 [UniParc]FASTAAdd to Basket

« Hide

MASLRRVKVL LVLNLIAVAG FVLFLAKCRP IAVRSGDAFH EIRPRAEVAN    50
LSAHSASPIQ DAVLKRLSLL EDIVYRQLNG LSKSLGLIEG YGGRGKGGLP 100
ATLSPAEEEK AKGPHEKYGY NSYLSEKISL DRSIPDYRPT KCKELKYSKD 150
LPQISIIFIF VNEALSVILR SVHSAVNHTP THLLKEIILV DDNSDEEELK 200
VPLEEYVHKR YPGLVKVVRN QKREGLIRAR IEGWKVATGQ VTGFFDAHVE 250
FTAGWAEPVL SRIQENRKRV ILPSIDNIKQ DNFEVQRYEN SAHGYSWELW 300
CMYISPPKDW WDAGDPSLPI RTPAMIGCSF VVNRKFFGEI GLLDPGMDVY 350
GGENIELGIK VWLCGGSMEV LPCSRVAHIE RKKKPYNSNI GFYTKRNALR 400
VAEVWMDDYK SHVYIAWNLP LENPGIDIGD VSERRALRKS LKCKNFQWYL 450
DHVYPEMRRY NNTVAYGELR NNKAKDVCLD QGPLENHTAI LYPCHGWGPQ 500
LARYTKEGFL HLGALGTTTL LPDTRCLVDN SKSRLPQLLD CDKVKSSLYK 550
RWNFIQNGAI MNKGTGRCLE VENRGLAGID LILRSCTGQR WTIKNSIK 598
Length:598
Mass (Da):67,751
Last modified:August 16, 2004 - v2
Checksum:i9E2D52DBFBD907B1
GO

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti596 – 5961S → P in AAH69997. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS5540.1.
PIRiT46260.
RefSeqiNP_071924.1. NM_022479.2.
UniGeneiHs.488591.

Genome annotation databases

EnsembliENST00000333538; ENSP00000329654; ENSG00000185274.
GeneIDi64409.
KEGGihsa:64409.
UCSCiuc003tvy.4. human.

Polymorphism databases

DMDMi51315852.

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UniGenei Hs.488591.

3D structure databases

ProteinModelPortali Q6IS24.
SMRi Q6IS24. Positions 93-595.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000329654.

Protein family/group databases

CAZyi CBM13. Carbohydrate-Binding Module Family 13.
GT27. Glycosyltransferase Family 27.

PTM databases

PhosphoSitei Q6IS24.

Polymorphism databases

DMDMi 51315852.

Proteomic databases

PaxDbi Q6IS24.
PRIDEi Q6IS24.

Protocols and materials databases

DNASUi 64409.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000333538 ; ENSP00000329654 ; ENSG00000185274 .
GeneIDi 64409.
KEGGi hsa:64409.
UCSCi uc003tvy.4. human.

Organism-specific databases

CTDi 64409.
GeneCardsi GC07P070597.
HGNCi HGNC:16347. WBSCR17.
HPAi HPA013624.
neXtProti NX_Q6IS24.
PharmGKBi PA38124.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG259711.
HOGENOMi HOG000038228.
HOVERGENi HBG051699.
InParanoidi Q6IS24.
KOi K00710.
OMAi RYENSGH.
OrthoDBi EOG7JX33Q.
PhylomeDBi Q6IS24.
TreeFami TF313267.

Enzyme and pathway databases

UniPathwayi UPA00378 .
Reactomei REACT_115606. O-linked glycosylation of mucins.

Miscellaneous databases

ChiTaRSi WBSCR17. human.
GeneWikii WBSCR17.
GenomeRNAii 64409.
NextBioi 66366.
PROi Q6IS24.

Gene expression databases

ArrayExpressi Q6IS24.
Bgeei Q6IS24.
CleanExi HS_WBSCR17.
Genevestigatori Q6IS24.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR001173. Glyco_trans_2-like.
IPR029044. Nucleotide-diphossugar_trans.
IPR000772. Ricin_B_lectin.
[Graphical view ]
Pfami PF00535. Glycos_transf_2. 1 hit.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view ]
SMARTi SM00458. RICIN. 1 hit.
[Graphical view ]
SUPFAMi SSF50370. SSF50370. 1 hit.
SSF53448. SSF53448. 1 hit.
PROSITEi PS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of additional transcripts in the Williams-Beuren syndrome critical region."
    Merla G., Ucla C., Guipponi M., Reymond A.
    Hum. Genet. 110:429-438(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 466-598.
    Tissue: Amygdala.

Entry informationi

Entry nameiGLTL3_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 100 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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