Q6IS24 (GLTL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	WBSCR17
Synonyms:	GALNTL3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	598 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Calcium 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.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Disease	Williams-Beuren syndrome
Domain	Signal-anchor Transmembrane Transmembrane helix
Ligand	Calcium Lectin Manganese
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein glycosylation Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	polypeptide N-acetylgalactosaminyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 598	598	Putative polypeptide N-acetylgalactosaminyltransferase-like protein 3		PRO_0000059139
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 27	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	28 – 598	571	Lumenal Potential
	Domain	465 – 594	130	Ricin B-type lectin
	Region	151 – 262	112	Catalytic subdomain A
	Region	319 – 381	63	Catalytic subdomain B
Amino acid modifications
	Glycosylation	50	1	N-linked (GlcNAc...) Potential
	Glycosylation	461	1	N-linked (GlcNAc...) Potential
	Glycosylation	486	1	N-linked (GlcNAc...) Potential
	Disulfide bond	478 ↔ 494		By similarity
	Disulfide bond	526 ↔ 541		By similarity
	Disulfide bond	568 ↔ 586		By similarity
Experimental info
	Sequence conflict	596	1	S → P in AAH69997. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q6IS24 [UniParc]. Last modified August 16, 2004. Version 2. Checksum: 9E2D52DBFBD907B1	FASTA	598	67,751
	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

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00168921.
PIR	T46260.
RefSeq	NP_071924.1. NM_022479.2.
UniGene	Hs.488591.
3D structure databases
ProteinModelPortal	Q6IS24.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000329654.
Protein family/group databases
CAZy	CBM13. Carbohydrate-Binding Module Family 13. GT27. Glycosyltransferase Family 27.
PTM databases
PhosphoSite	Q6IS24.
Polymorphism databases
DMDM	51315852.
Proteomic databases
PaxDb	Q6IS24.
PRIDE	Q6IS24.
Protocols and materials databases
DNASU	64409.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000333538; ENSP00000329654; ENSG00000185274.
GeneID	64409.
KEGG	hsa:64409.
UCSC	uc003tvy.3. human.
Organism-specific databases
CTD	64409.
GeneCards	GC07P070597.
HGNC	HGNC:16347. WBSCR17.
HPA	HPA013624.
neXtProt	NX_Q6IS24.
PharmGKB	PA38124.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG259711.
HOGENOM	HOG000038228.
HOVERGEN	HBG051699.
InParanoid	Q6IS24.
KO	K00710.
OMA	KGPLEEY.
OrthoDB	EOG4GB75V.
PhylomeDB	Q6IS24.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	Q6IS24.
Bgee	Q6IS24.
CleanEx	HS_WBSCR17.
Genevestigator	Q6IS24.
GermOnline	ENSG00000185274. Homo sapiens.
Family and domain databases
InterPro	IPR001173. Glyco_trans_2. IPR000772. Ricin_B_lectin. [Graphical view]
Pfam	PF00535. Glycos_transf_2. 1 hit. PF00652. Ricin_B_lectin. 1 hit. [Graphical view]
SMART	SM00458. RICIN. 1 hit. [Graphical view]
SUPFAM	SSF50370. RicinB_like. 1 hit.
PROSITE	PS50231. RICIN_B_LECTIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	WBSCR17. human.
GenomeRNAi	64409.
NextBio	66366.

Entry information

Entry name

GLTL3_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 90 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.