Q8NFS9 (GNT2C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C
Short name=N-acetylglucosaminyltransferase
EC=2.4.1.150

Alternative name(s):
I-branching enzyme
IGNT

Gene names

Name:	GCNT2
Synonyms:	GCNT5, II, NACGT1

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

General annotation (Comments)

Function	Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells. The expression of the blood group I antigen in erythrocytes is determined by isoform C.
Catalytic activity	UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-1,4-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-1,6-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 By similarity.
Polymorphism	GCNT2 is involved in determining the blood group I system (Ii) [MIM:110800]. The i (fetal) and I (adult) antigens are determined by linear and branched poly-N-acetyllactosaminoglycans, respectively. A replacement during development of i by I is dependent on the appearance of a beta-1,6-N-acetylglucosaminyltransferase, the I-branching enzyme. The expression of the blood group I antigen in erythrocytes is determined by isoform C of GCNT2.
Sequence similarities	Belongs to the glycosyltransferase 14 family.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	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	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: Isoforms A, B and C have different exons 1, but identical exons 2 and 3.

Isoform C (identifier: Q8NFS9-1)

Also known as: IGNTC; IGNT3;

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.

Note: Expressed in reticulocytes. This isoform determines the expression of the blood group I antigen in erythrocytes.

Isoform A (identifier: Q8N0V5-1)

Also known as: IGNTA; IGNT1;

The sequence of this isoform can be found in the external entry Q8N0V5.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.

Isoform B (identifier: Q06430-1)

Also known as: IGNTB; IGNT2;

The sequence of this isoform can be found in the external entry Q06430.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.

Note: Expressed in lens epithelium cells.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 402	402	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C		PRO_0000395120
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 20	14	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	21 – 400	380	Lumenal Potential
Amino acid modifications
	Glycosylation	37	1	N-linked (GlcNAc...) Potential
Experimental info
	Sequence conflict	272	1	D → E in AAM73866. Ref.1
	Sequence conflict	272	1	D → E in BAC66782. Ref.2
	Sequence conflict	272	1	D → E in CAI46081. Ref.4
	Sequence conflict	272	1	D → E in BAG36218. Ref.5
	Sequence conflict	272	1	D → E in EAW55259. Ref.7
	Sequence conflict	272	1	D → E in AAI30525. Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Isoform C (IGNTC) (IGNT3) [UniParc]. Last modified June 15, 2010. Version 2. Checksum: 7760098081881BD3	FASTA	402	46,531
	10 20 30 40 50 60 MNFWRYCFFA FTLLSVVIFV RFYSSQLSPP KSYEKLNSSS ERYFRKTACN HALEKMPVFL 70 80 90 100 110 120 WENILPSPLR SVPCKDYLTQ NHYITSPLSE EEAAFPLAYV MVIHKDFDTF ERLFRAIYMP 130 140 150 160 170 180 QNVYCVHVDE KAPAEYKESV RQLLSCFQNA FIASKTESVV YAGISRLQAD LNCLKDLVAS 190 200 210 220 230 240 EVPWKYVINT CGQDFPLKTN REIVQHLKGF KGKNITPGVL PPDHAIKRTK YVHQEHTDKG 250 260 270 280 290 300 GFFVKNTNIL KTSPPHQLTI YFGTAYVALT RDFVDFVLRD QRAIDLLQWS KDTYSPDEHF 310 320 330 340 350 360 WVTLNRVSGV PGSMPNASWT GNLRAIKWSD MEDRHGGCHG HYVHGICIYG NGDLKWLVNS 370 380 390 400 PSLFANKFEL NTYPLTVECL ELRHRERTLN QSETAIQPSW YF
	Isoform A (IGNTA) (IGNT1) [UniParc]. See Q8N0V5.		–	–
	Isoform B (IGNTB) (IGNT2) [UniParc]. See Q06430.		–	–

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts." Yu L.C., Twu Y.C., Chou M.L., Reid M.E., Gray A.R., Moulds J.M., Chang C.Y., Lin M. Blood 101:2081-2088(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
[2]	"A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression." Inaba N., Hiruma T., Togayachi A., Iwasaki H., Wang X.H., Furukawa Y., Sumi R., Kudo T., Fujimura K., Iwai T., Gotoh M., Nakamura M., Narimatsu H. Blood 101:2870-2876(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
[3]	"Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation." Zhang T., Haws P., Wu Q. Genome Res. 14:79-89(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Fetal skin.
[5]	"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]. Tissue: Cerebellum.
[6]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"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].
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF458026 mRNA. Translation: AAM73866.1. AB078433 mRNA. Translation: BAC66782.1. AY435147 mRNA. Translation: AAR95648.1. BX647576 mRNA. Translation: CAI46081.1. AK313426 mRNA. Translation: BAG36218.1. AL358777 Genomic DNA. Translation: CAI13997.2. CH471087 Genomic DNA. Translation: EAW55259.1. BC130524 mRNA. Translation: AAI30525.1.
IPI	IPI00645767.
RefSeq	NP_001482.1. NM_001491.2. NP_663630.2. NM_145655.3.
UniGene	Hs.519884.
3D structure databases
ProteinModelPortal	Q8NFS9.
SMR	Q8NFS9. Positions 74-389.
ModBase	Search...
Protein family/group databases
CAZy	GT14. Glycosyltransferase Family 14.
Polymorphism databases
DMDM	298351849.
Proteomic databases
PRIDE	Q8NFS9.
Protocols and materials databases
DNASU	2651.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000265012; ENSP00000265012; ENSG00000111846.
GeneID	2651.
KEGG	hsa:2651.
UCSC	uc003mze.3. human.
Organism-specific databases
CTD	2651.
GeneCards	GC06P010492.
HGNC	HGNC:4204. GCNT2.
HPA	HPA026776.
MIM	110800. phenotype. 600429. gene.
neXtProt	NX_Q8NFS9.
PharmGKB	PA169.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HOG000293251.
HOVERGEN	HBG051711.
KO	K00742.
OMA	LRSVPCK.
PhylomeDB	Q8NFS9.
Enzyme and pathway databases
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	Q8NFS9.
Bgee	Q8NFS9.
Family and domain databases
InterPro	IPR003406. Glyco_trans_14. [Graphical view]
Pfam	PF02485. Branch. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	GCNT2. human.
GenomeRNAi	2651.
NextBio	10472.
SOURCE	Search...

Entry information

Entry name

GNT2C_HUMAN

Accession

Primary (citable) accession number: Q8NFS9
Secondary accession number(s): Q5T4J1, Q6T5E5

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 15, 2010
Last sequence update:	June 15, 2010
Last modified:	May 1, 2013
This is version 63 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.