O43505 (B3GN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
EC=2.4.1.149

Alternative name(s):
I-beta-1,3-N-acetylglucosaminyltransferase
Short name=iGnT
Poly-N-acetyllactosamine extension enzyme
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1

Gene names

Name:	B3GNT1
Synonyms:	B3GNT6

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	415 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Can initiate the synthesis or the elongation of the linear poly-N-acetyllactosaminoglycans. Ref.1
Catalytic activity	UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Golgi apparatus membrane; Single-pass type II membrane protein.
Tissue specificity	In the adult, highly expressed in heart, brain, skeletal muscle and kidney and to a lesser extent in placenta, pancreas, spleen, prostate, testis, ovary, small intestine and colon. Very weak expression in lung, liver, thymus and peripheral blood leukocytes. In fetal highly expressed in brain and kidney and to a lesser extent in lung and liver. Ref.1

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	keratan sulfate biosynthetic process Traceable author statement. Source: Reactome poly-N-acetyllactosamine biosynthetic process Inferred from direct assay Ref.1. Source: UniProtKB protein glycosylation Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	integral to Golgi membrane Non-traceable author statement Ref.1. Source: UniProtKB
Molecular_function	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 415	415	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase		PRO_0000080555
Regions
	Topological domain	1 – 8	8	Cytoplasmic Potential
	Transmembrane	9 – 36	28	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	37 – 415	379	Lumenal Potential
Amino acid modifications
	Glycosylation	204	1	N-linked (GlcNAc...) Potential
	Glycosylation	300	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	253	1	T → S. Ref.2 Corresponds to variant rs35429253 [ dbSNP | Ensembl ].		VAR_025019

Sequences

	Sequence		Length	Mass (Da)
	O43505 [UniParc]. Last modified June 1, 1998. Version 1. Checksum: 432D00980EFE2B35	FASTA	415	47,119
	10 20 30 40 50 60 MQMSYAIRCA FYQLLLAALM LVAMLQLLYL SLLSGLHGQE EQDQYFEFFP PSPRSVDQVK 70 80 90 100 110 120 AQLRTALASG GVLDASGDYR VYRGLLKTTM DPNDVILATH ASVDNLLHLS GLLERWEGPL 130 140 150 160 170 180 SVSVFAATKE EAQLATVLAY ALSSHCPDMR ARVAMHLVCP SRYEAAVPDP REPGEFALLR 190 200 210 220 230 240 SCQEVFDKLA RVAQPGINYA LGTNVSYPNN LLRNLAREGA NYALVIDVDM VPSEGLWRGL 250 260 270 280 290 300 REMLDQSNQW GGTALVVPAF EIRRARRMPM NKNELVQLYQ VGEVRPFYYG LCTPCQAPTN 310 320 330 340 350 360 YSRWVNLPEE SLLRPAYVVP WQDPWEPFYV AGGKVPTFDE RFRQYGFNRI SQACELHVAG 370 380 390 400 410 FDFEVLNEGF LVHKGFKEAL KFHPQKEAEN QHNKILYRQF KQELKAKYPN SPRRC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis." Sasaki K., Kurata-Miura K., Ujita M., Angata K., Nakagawa S., Sekine S., Nishi T., Fukuda M. Proc. Natl. Acad. Sci. U.S.A. 94:14294-14299(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
[2]	SeattleSNPs variation discovery resource Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-253.
[3]	"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]. Tissue: Colon.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

SeattleSNPs

Functional Glycomics Gateway - GTase

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF029893 mRNA. Translation: AAC39538.1. DQ066422 Genomic DNA. Translation: AAY46155.1. BC021965 mRNA. Translation: AAH21965.1.
IPI	IPI00009997.
RefSeq	NP_006867.1. NM_006876.2.
UniGene	Hs.8526.
3D structure databases
ProteinModelPortal	O43505.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-48921N.
IntAct	O43505. 1 interaction.
Protein family/group databases
CAZy	GT49. Glycosyltransferase Family 49.
PTM databases
PhosphoSite	O43505.
Proteomic databases
PaxDb	O43505.
PeptideAtlas	O43505.
PRIDE	O43505.
Protocols and materials databases
DNASU	11041.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000311181; ENSP00000309096; ENSG00000174684.
GeneID	11041.
KEGG	hsa:11041.
UCSC	uc001ohr.3. human.
Organism-specific databases
CTD	11041.
GeneCards	GC11M066112.
HGNC	HGNC:15685. B3GNT1.
HPA	HPA015484.
MIM	605517. gene.
neXtProt	NX_O43505.
PharmGKB	PA164741279.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG325995.
HOGENOM	HOG000064521.
HOVERGEN	HBG080885.
InParanoid	O43505.
KO	K00741.
OMA	AKYPDSP.
OrthoDB	EOG42V8GB.
PhylomeDB	O43505.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_116125. Disease.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	O43505.
Bgee	O43505.
CleanEx	HS_B3GNT1. HS_B3GNT6.
Genevestigator	O43505.
GermOnline	ENSG00000174684. Homo sapiens.
Family and domain databases
InterPro	IPR026603. N-AclacN_B-1_3-N-AclacNTrfase. [Graphical view]
PANTHER	PTHR12270:SF3. PTHR12270:SF3. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	11041.
NextBio	41959.
SOURCE	Search...

Entry information

Entry name

B3GN1_HUMAN

Accession

Primary (citable) accession number: O43505
Secondary accession number(s): Q4TTN0

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2002
Last sequence update:	June 1, 1998
Last modified:	April 3, 2013
This is version 97 of the entry and version 1 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.