Q9C0J1 (B3GN4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
Short name=BGnT-4
Short name=Beta-1,3-Gn-T4
Short name=Beta-1,3-N-acetylglucosaminyltransferase 4
Short name=Beta3Gn-T4
EC=2.4.1.-

Gene names

Name:	B3GNT4
ORF Names:	UNQ1898/PRO4344

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	378 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Has a beta-1,3-N-acetylglucosaminyltransferase activity for type 2 oligosaccharides.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Golgi apparatus membrane; Single-pass type II membrane protein By similarity.
Tissue specificity	Mainly expressed in brain tissues such as whole brain, hippocampus, amygdala, cerebellum and caudate nucleus. Also expressed in colon, esophagus and kidney. Ref.1
Sequence similarities	Belongs to the glycosyltransferase 31 family.
Sequence caution	The sequence AAL37219.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	O-glycan processing Traceable author statement. Source: Reactome keratan sulfate biosynthetic process Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome
Cellular_component	Golgi membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	galactosyltransferase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9C0J1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9C0J1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 378	378	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4		PRO_0000289207
Regions
	Topological domain	1 – 28	28	Cytoplasmic Potential
	Transmembrane	29 – 49	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	50 – 378	329	Lumenal Potential
Amino acid modifications
	Glycosylation	192	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 25	25	Missing in isoform 2.		VSP_025962
	Natural variant	6	1	P → A. Ref.5 Corresponds to variant rs7136356 [ dbSNP | Ensembl ].		VAR_032600
	Natural variant	83	1	S → T. Corresponds to variant rs1001178 [ dbSNP | Ensembl ].		VAR_032601
	Natural variant	87	1	L → P. Corresponds to variant rs35203505 [ dbSNP | Ensembl ].		VAR_032602
Experimental info
	Sequence conflict	49	1	L → V in CAC45045. Ref.6
	Sequence conflict	49	1	L → V in CAC82375. Ref.7
	Sequence conflict	52	1	A → T in CAC45045. Ref.6
	Sequence conflict	52	1	A → T in CAC82375. Ref.7
	Sequence conflict	81	1	T → S in CAC45045. Ref.6
	Sequence conflict	151	1	R → Q in BAC04622. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: E8EE88665A36057E	FASTA	378	42,310
	10 20 30 40 50 60 MLPPQPSAAH QGRGGRSGLL PKGPAMLCRL CWLVSYSLAV LLLGCLLFLR KAAKPAGDPT 70 80 90 100 110 120 AHQPFWAPPT PRHSRCPPNH TVSSASLSLP SRHRLFLTYR HCRNFSILLE PSGCSKDTFL 130 140 150 160 170 180 LLAIKSQPGH VERRAAIRST WGRVGGWARG RQLKLVFLLG VAGSAPPAQL LAYESREFDD 190 200 210 220 230 240 ILQWDFTEDF FNLTLKELHL QRWVVAACPQ AHFMLKGDDD VFVHVPNVLE FLDGWDPAQD 250 260 270 280 290 300 LLVGDVIRQA LPNRNTKVKY FIPPSMYRAT HYPPYAGGGG YVMSRATVRR LQAIMEDAEL 310 320 330 340 350 360 FPIDDVFVGM CLRRLGLSPM HHAGFKTFGI RRPLDPLDPC LYRGLLLVHR LSPLEMWTMW 370 ALVTDEGLKC AAGPIPQR
	Isoform 2 [UniParc]. Checksum: FB91097D5120AC50	FASTA	353	39,848
	10 20 30 40 50 60 MLCRLCWLVS YSLAVLLLGC LLFLRKAAKP AGDPTAHQPF WAPPTPRHSR CPPNHTVSSA 70 80 90 100 110 120 SLSLPSRHRL FLTYRHCRNF SILLEPSGCS KDTFLLLAIK SQPGHVERRA AIRSTWGRVG 130 140 150 160 170 180 GWARGRQLKL VFLLGVAGSA PPAQLLAYES REFDDILQWD FTEDFFNLTL KELHLQRWVV 190 200 210 220 230 240 AACPQAHFML KGDDDVFVHV PNVLEFLDGW DPAQDLLVGD VIRQALPNRN TKVKYFIPPS 250 260 270 280 290 300 MYRATHYPPY AGGGGYVMSR ATVRRLQAIM EDAELFPIDD VFVGMCLRRL GLSPMHHAGF 310 320 330 340 350 KTFGIRRPLD PLDPCLYRGL LLVHRLSPLE MWTMWALVTD EGLKCAAGPI PQR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of three novel beta 1,3-N-acetylglucosaminyltransferases structurally related to the beta 1,3-galactosyltransferase family." Shiraishi N., Natsume A., Togayachi A., Endo T., Akashima T., Yamada Y., Imai N., Nakagawa S., Koizumi S., Sekine S., Narimatsu H., Sasaki K. J. Biol. Chem. 276:3498-3507(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME ACTIVITY, TISSUE SPECIFICITY.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[4]	"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] (ISOFORM 1). Tissue: Brain.
[5]	"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], VARIANT ALA-6. Tissue: Brain.
[6]	"Cloning and expression of a novel human beta-1,3-galactosyltransferase-related gene." Leu J.H., Chou C.M., Huang C.J. Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 25-378.
[7]	"Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions." Amado M., Almeida R., Schwientek T., Clausen H. Biochim. Biophys. Acta 1473:35-53(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 26-378.
[8]	Bennett E.P. Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 26-378.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB049586 mRNA. Translation: BAB21532.1. AY358940 mRNA. Translation: AAQ89299.1. AK095746 mRNA. Translation: BAC04622.1. AL834452 mRNA. Translation: CAD39112.2. BC031399 mRNA. Translation: AAH31399.1. AF321825 Genomic DNA. Translation: AAL37219.1. Different initiation. AJ130848 mRNA. Translation: CAC45045.1. AJ278962 mRNA. Translation: CAC82375.1.
IPI	IPI00479361. IPI00792487.
RefSeq	NP_110392.1. NM_030765.2.
UniGene	Hs.363315.
3D structure databases
ProteinModelPortal	Q9C0J1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9C0J1. 1 interaction.
MINT	MINT-1378693.
STRING	9606.ENSP00000319636.
Protein family/group databases
CAZy	GT31. Glycosyltransferase Family 31.
PTM databases
PhosphoSite	Q9C0J1.
Polymorphism databases
DMDM	74752494.
Proteomic databases
PaxDb	Q9C0J1.
PRIDE	Q9C0J1.
Protocols and materials databases
DNASU	79369.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000324189; ENSP00000319636; ENSG00000176383. ENST00000535274; ENSP00000444534; ENSG00000176383. ENST00000546192; ENSP00000438840; ENSG00000176383.
GeneID	79369.
KEGG	hsa:79369.
UCSC	uc001ubx.3. human.
Organism-specific databases
CTD	79369.
GeneCards	GC12P122689.
HGNC	HGNC:15683. B3GNT4.
HPA	HPA055261.
MIM	605864. gene.
neXtProt	NX_Q9C0J1.
PharmGKB	PA25220.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG257058.
HOVERGEN	HBG050653.
InParanoid	Q9C0J1.
KO	K07971.
OMA	RNTKVKY.
OrthoDB	EOG4TF0KB.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_116125. Disease. REACT_17015. Metabolism of proteins.
UniPathway	UPA00378.
Gene expression databases
Bgee	Q9C0J1.
CleanEx	HS_B3GNT4.
Genevestigator	Q9C0J1.
Family and domain databases
InterPro	IPR002659. Glyco_trans_31. [Graphical view]
PANTHER	PTHR11214. PTHR11214. 1 hit.
Pfam	PF01762. Galactosyl_T. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	79369.
NextBio	68347.
SOURCE	Search...

Entry information

Entry name

B3GN4_HUMAN

Accession

Primary (citable) accession number: Q9C0J1
Secondary accession number(s): Q8N5W4 , Q8N934, Q8ND21, Q8WWR5, Q8WY02, Q96QH5

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 85 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.