Cell atlas - WBSCR17 - The Human Protein Atlas

GENERAL INFORMATION
Gene name	WBSCR17
Gene description	Williams-Beuren syndrome chromosome region 17
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the nucleus & the Golgi apparatus. In addition localized to the nucleoli & nuclear bodies.
RNA cell category	Cell line enhanced (SK-BR-3, AF22, NTERA-2, RPMI-8226)
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleus (uncertain), Golgi apparatus (uncertain)
Additional location	In addition localized to the Nucleoli (uncertain), Nuclear bodies (uncertain)

DATA RELIABILITY
Reliability score	Uncertain based on 1 antibody. HPA047986
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ASSAYS

RNA expression

Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (SK-BR-3, AF22, NTERA-2, RPMI-8226) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the nucleus & the Golgi apparatus. In addition localized to the nucleoli & nuclear bodies.

Main location

Nucleus (uncertain), Golgi apparatus (uncertain)

Additional location

Nucleoli (uncertain), Nuclear bodies (uncertain)


	Toggle channels	Low High G1 S G2 M N/A

Antibody	Cell line	Location
HPA047986	AF22	Nucleus
		Nuclear bodies
		Golgi apparatus
HPA047986	SK-MEL-30	Nucleus
		Nucleoli
		Golgi apparatus
HPA047986	U-2 OS	No staining

GENE INFORMATION
Gene name	WBSCR17 (HGNC Symbol)
Synonyms	GalNAc-T5L, GALNTL3
Description	Williams-Beuren syndrome chromosome region 17 (HGNC Symbol)
Entrez gene 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]
Chromosome	7
Cytoband	q11.22
Chromosome location (bp)	71132169 - 71713600
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000185274 (version 83.38)
Entrez gene	64409
UniProt	Q6IS24 (UniProt - Evidence at transcript level)
neXtProt	NX_Q6IS24
Antibodypedia	WBSCR17 antibodies

PROTEIN BROWSER

WBSCR17-001	WBSCR17-004	WBSCR17-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
WBSCR17-001 ENSP00000329654 ENST00000333538	Q6IS24 [Direct mapping] Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 Q2L4S5 [Target identity:100%; Query identity:100%] Polypeptide N-acetylgalactosaminyltransferase Show all	Enzymes ENZYME proteins Transferases MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000139 [Golgi membrane] GO:0004653 [polypeptide N-acetylgalactosaminyltransferase activity] GO:0006486 [protein glycosylation] GO:0016021 [integral component of membrane] GO:0030246 [carbohydrate binding] GO:0046872 [metal ion binding] Show all	598 aa 67.8 kDa	No	0
WBSCR17-004 ENSP00000392019 ENST00000447516	H7BZX9 [Direct mapping] Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		188 aa 20.9 kDa	No	0
WBSCR17-201 ENSP00000479090 ENST00000618959	A0A087WV18 [Direct mapping] Polypeptide N-acetylgalactosaminyltransferase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0000139 [Golgi membrane] GO:0006486 [protein glycosylation] GO:0016021 [integral component of membrane] GO:0016757 [transferase activity, transferring glycosyl groups] GO:0030246 [carbohydrate binding] GO:0046872 [metal ion binding] Show all	519 aa 59 kDa	No	0