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Q6IS24 (GLTL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:WBSCR17
Synonyms:GALNTL3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length598 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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 activity

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

Cofactor

Manganese By similarity.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein By similarity.

Tissue specificity

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

Domain

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.

Involvement in disease

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.

Sequence similarities

Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.

Contains 1 ricin B-type lectin domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 598598Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3
PRO_0000059139

Regions

Topological domain1 – 66Cytoplasmic Potential
Transmembrane7 – 2721Helical; Signal-anchor for type II membrane protein; Potential
Topological domain28 – 598571Lumenal Potential
Domain465 – 594130Ricin B-type lectin
Region151 – 262112Catalytic subdomain A
Region319 – 38163Catalytic subdomain B

Sites

Metal binding2461Manganese By similarity
Metal binding2481Manganese By similarity
Metal binding3781Manganese By similarity
Binding site1921Substrate By similarity
Binding site2231Substrate By similarity
Binding site3811Substrate By similarity
Binding site3861Substrate By similarity

Amino acid modifications

Glycosylation501N-linked (GlcNAc...) Potential
Glycosylation4611N-linked (GlcNAc...) Potential
Glycosylation4861N-linked (GlcNAc...) Potential
Disulfide bond142 ↔ 373 By similarity
Disulfide bond364 ↔ 443 By similarity
Disulfide bond478 ↔ 494 By similarity
Disulfide bond526 ↔ 541 By similarity
Disulfide bond568 ↔ 586 By similarity

Experimental info

Sequence conflict5961S → P in AAH69997. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q6IS24 [UniParc].

Last modified August 16, 2004. Version 2.
Checksum: 9E2D52DBFBD907B1

FASTA59867,751
        10         20         30         40         50         60 
MASLRRVKVL LVLNLIAVAG FVLFLAKCRP IAVRSGDAFH EIRPRAEVAN LSAHSASPIQ 

        70         80         90        100        110        120 
DAVLKRLSLL EDIVYRQLNG LSKSLGLIEG YGGRGKGGLP ATLSPAEEEK AKGPHEKYGY 

       130        140        150        160        170        180 
NSYLSEKISL DRSIPDYRPT KCKELKYSKD LPQISIIFIF VNEALSVILR SVHSAVNHTP 

       190        200        210        220        230        240 
THLLKEIILV DDNSDEEELK VPLEEYVHKR YPGLVKVVRN QKREGLIRAR IEGWKVATGQ 

       250        260        270        280        290        300 
VTGFFDAHVE FTAGWAEPVL SRIQENRKRV ILPSIDNIKQ DNFEVQRYEN SAHGYSWELW 

       310        320        330        340        350        360 
CMYISPPKDW WDAGDPSLPI RTPAMIGCSF VVNRKFFGEI GLLDPGMDVY GGENIELGIK 

       370        380        390        400        410        420 
VWLCGGSMEV LPCSRVAHIE RKKKPYNSNI GFYTKRNALR VAEVWMDDYK SHVYIAWNLP 

       430        440        450        460        470        480 
LENPGIDIGD VSERRALRKS LKCKNFQWYL DHVYPEMRRY NNTVAYGELR NNKAKDVCLD 

       490        500        510        520        530        540 
QGPLENHTAI LYPCHGWGPQ LARYTKEGFL HLGALGTTTL LPDTRCLVDN SKSRLPQLLD 

       550        560        570        580        590 
CDKVKSSLYK RWNFIQNGAI MNKGTGRCLE VENRGLAGID LILRSCTGQR WTIKNSIK 

« Hide

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 466-598.
Tissue: Amygdala.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT46260.
RefSeqNP_071924.1. NM_022479.2.
UniGeneHs.488591.

3D structure databases

ProteinModelPortalQ6IS24.
SMRQ6IS24. Positions 93-595.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000329654.

Protein family/group databases

CAZyCBM13. Carbohydrate-Binding Module Family 13.
GT27. Glycosyltransferase Family 27.

PTM databases

PhosphoSiteQ6IS24.

Polymorphism databases

DMDM51315852.

Proteomic databases

PaxDbQ6IS24.
PRIDEQ6IS24.

Protocols and materials databases

DNASU64409.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000333538; ENSP00000329654; ENSG00000185274.
GeneID64409.
KEGGhsa:64409.
UCSCuc003tvy.4. human.

Organism-specific databases

CTD64409.
GeneCardsGC07P070597.
HGNCHGNC:16347. WBSCR17.
HPAHPA013624.
neXtProtNX_Q6IS24.
PharmGKBPA38124.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG259711.
HOGENOMHOG000038228.
HOVERGENHBG051699.
InParanoidQ6IS24.
KOK00710.
OMARYENSGH.
OrthoDBEOG7JX33Q.
PhylomeDBQ6IS24.
TreeFamTF313267.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ6IS24.
BgeeQ6IS24.
CleanExHS_WBSCR17.
GenevestigatorQ6IS24.

Family and domain databases

InterProIPR001173. Glyco_trans_2-like.
IPR000772. Ricin_B_lectin.
[Graphical view]
PfamPF00535. Glycos_transf_2. 1 hit.
PF00652. Ricin_B_lectin. 1 hit.
[Graphical view]
SMARTSM00458. RICIN. 1 hit.
[Graphical view]
SUPFAMSSF50370. SSF50370. 1 hit.
PROSITEPS50231. RICIN_B_LECTIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSWBSCR17. human.
GeneWikiWBSCR17.
GenomeRNAi64409.
NextBio66366.
PROQ6IS24.

Entry information

Entry nameGLTL3_HUMAN
AccessionPrimary (citable) accession number: Q6IS24
Secondary accession number(s): Q8NFV9, Q9NTA8
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: August 16, 2004
Last modified: April 16, 2014
This is version 97 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM