Gene/Proteome Database (LMPD)
LMPD ID
LMP000661
Gene ID
Species
Homo sapiens (Human)
Gene Name
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Gene Symbol
Synonyms
CCAT; CTRCT13; GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3; bA360O19.2; bA421M1.1
Alternate Names
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase; Ii blood group; I beta-1,6-N-acetylglucosaminyltransferase; beta-1,6-N-acetylglucosaminyltransferase 2
Chromosome
6
Map Location
6p24.2
EC Number
2.4.1.150
Summary
This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A | |
|---|---|
| Refseq ID | NP_663624 |
| Protein GI | 21717810 |
| UniProt ID | Q8N0V5 |
| mRNA ID | NM_145649 |
| Length | 402 |
| RefSeq Status | REVIEWED |
| MMGSWKHCLFSASLISALIFVFVYNTELWENKRFLRAALSNASLLAEACHQIFEGKVFYPTENALKTTLDEATCYEYMVRSHYVTETLSEEEAGFPLAYTVTIHKDFGTFERLFRAIYMPQNVYCVHLDQKATDAFKGAVKQLLSCFPNAFLASKKESVVYGGISRLQADLNCLEDLVASEVPWKYVINTCGQDFPLKTNREIVQYLKGFKGKNITPGVLPPDHAVGRTKYVHQELLNHKNSYVIKTTKLKTPPPHDMVIYFGTAYVALTRDFANFVLQDQLALDLLSWSKDTYSPDEHFWVTLNRIPGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSWYF | |
| N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform B | |
|---|---|
| Refseq ID | NP_001482 |
| Protein GI | 4503963 |
| UniProt ID | Q06430 |
| mRNA ID | NM_001491 |
| Length | 400 |
| RefSeq Status | REVIEWED |
| MPLSMRYLFIISVSSVIIFIVFSVFNFGGDPSFQRLNISDPLRLTQVCTSFINGKTRFLWKNKLMIHEKSSCKEYLTQSHYITAPLSKEEADFPLAYIMVIHHHFDTFARLFRAIYMPQNIYCVHVDEKATTEFKDAVEQLLSCFPNAFLASKMEPVVYGGISRLQADLNCIRDLSAFEVSWKYVINTCGQDFPLKTNKEIVQYLKGFKGKNITPGVLPPAHAIGRTKYVHQEHLGKELSYVIRTTALKPPPPHNLTIYFGSAYVALSREFANFVLHDPRAVDLLQWSKDTFSPDEHFWVTLNRIPGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSWYF | |
| N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform C | |
|---|---|
| Refseq ID | NP_663630 |
| Protein GI | 85790495 |
| UniProt ID | Q8NFS9 |
| mRNA ID | NM_145655 |
| Length | 402 |
| RefSeq Status | REVIEWED |
| MNFWRYCFFAFTLLSVVIFVRFYSSQLSPPKSYEKLNSSSERYFRKTACNHALEKMPVFLWENILPSPLRSVPCKDYLTQNHYITSPLSEEEAAFPLAYVMVIHKDFDTFERLFRAIYMPQNVYCVHVDEKAPAEYKESVRQLLSCFQNAFIASKTESVVYAGISRLQADLNCLKDLVASEVPWKYVINTCGQDFPLKTNREIVQHLKGFKGKNITPGVLPPDHAIKRTKYVHQEHTDKGGFFVKNTNILKTSPPHQLTIYFGTAYVALTRDFVDFVLRDQRAIDLLQWSKDTYSPDEHFWVTLNRVSGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSWYF | |
Gene Information
Entrez Gene ID
Gene Name
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005794 | IEA:UniProtKB-KW | C | Golgi apparatus |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0016020 | TAS:ProtInc | C | membrane |
| GO:0008109 | TAS:ProtInc | F | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity |
| GO:0006024 | TAS:ProtInc | P | glycosaminoglycan biosynthetic process |
| GO:0007275 | TAS:ProtInc | P | multicellular organismal development |
| GO:0006486 | IEA:UniProtKB-UniPathway | P | protein glycosylation |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa00601 | Glycosphingolipid biosynthesis - lacto and neolacto series |
| ko00601 | Glycosphingolipid biosynthesis - lacto and neolacto series |
| hsa01100 | Metabolic pathways |
BIOCYC Pathway Links
| BIOCYC Pathway ID | Description |
|---|---|
| PWY-7434 | terminal O-glycans residues modification |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR003406 | Glycosyl transferase, family 14 |
UniProt Annotations
Entry Information
Gene Name
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Protein Entry
GNT2C_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=3; Comment=Isoforms A, B and C have different exons 1, but identical exons 2 and 3.; Name=B; Synonyms=IGNTB, IGNT2; IsoId=Q06430-1; Sequence=Displayed; Note=Expressed in lens epithelium cells.; Name=A; Synonyms=IGNTA, IGNT1; IsoId=Q8N0V5-1; Sequence=External; Name=C; Synonyms=IGNTC, IGNT3; IsoId=Q8NFS9-1; Sequence=External; Note=Expressed in reticulocytes. This isoform determines the expression of the blood group I antigen in erythrocytes.; |
| 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. |
| Developmental Stage | Its expression increases dramatically during development and oncogenesis. |
| 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. |
| Pathway | Protein modification; protein glycosylation. |
| Polymorphism | GCNT2 is involved in determining the blood group I system (Ii) [MIM |
| Similarity | Belongs to the glycosyltransferase 14 family. |
| Subcellular Location | Golgi apparatus membrane; Single-pass type II membrane protein. |
| Tissue Specificity | In the adult, highly expressed in prostate and to a lesser extent in small intestine and colon. Barely detected in heart, brain, kidney and pancreas. No expression in placenta, lung, liver, skeletal muscle, spleen, thymus, testis, ovary and peripheral blood leukocytes. In fetus, highly expressed in brain and to a lesser extent in lung and kidney. Barely detected in liver. |
| Web Resource | Name=Functional Glycomics Gateway - GTase; Note=N- acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_548"; |
| Web Resource | Name=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=GCNT2"; |
Identical and Related Proteins
Unique RefSeq proteins for LMP000661 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 21717810 | RefSeq | NP_663624 | 402 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A |
| 4503963 | RefSeq | NP_001482 | 400 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform B |
| 85790495 | RefSeq | NP_663630 | 402 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform C |
Identical Sequences to LMP000661 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:21717810 | DBBJ | BAF84456.1 | 402 | unnamed protein product [Homo sapiens] |
| GI:21717810 | DBBJ | BAG11119.1 | 402 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, partial [synthetic construct] |
| GI:4503963 | DBBJ | BAG36626.1 | 400 | unnamed protein product [Homo sapiens] |
| GI:21717810 | GenBank | AAR95646.1 | 402 | I-branching beta-1,6-acetylglucosaminyltransferase family polypeptide 1 [Homo sapiens] |
| GI:85790495 | GenBank | AAR95648.1 | 402 | I-branching beta-1,6-acetylglucosaminyltransferase family polypeptide 3 [Homo sapiens] |
| GI:4503963 | GenBank | AAW05136.1 | 400 | Sequence 17 from patent US 6794169 |
| GI:4503963 | GenBank | ABI05853.1 | 400 | Sequence 17 from patent US 7078206 |
| GI:4503963 | GenBank | ABJ29991.1 | 400 | Sequence 17 from patent US 7094887 |
| GI:4503963 | GenBank | ABJ30701.1 | 400 | Sequence 17 from patent US 7097994 |
| GI:4503963 | GenBank | EAW55260.1 | 400 | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group), isoform CRA_b [Homo sapiens] |
| GI:21717810 | GenBank | EAW55262.1 | 402 | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group), isoform CRA_d [Homo sapiens] |
| GI:21717810 | RefSeq | XP_006715115.1 | 402 | PREDICTED: N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4 [Homo sapiens] |
| GI:21717810 | SwissProt | Q8N0V5.1 | 402 | RecName: Full=N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform A; Short=N-acetylglucosaminyltransferase; AltName: Full=I-branching enzyme; AltName: Full=IGNT [Homo sapiens] |
| GI:85790495 | SwissProt | Q8NFS9.2 | 402 | RecName: Full=N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C; Short=N-acetylglucosaminyltransferase; AltName: Full=I-branching enzyme; AltName: Full=IGNT [Homo sapiens] |
Related Sequences to LMP000661 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:21717810 | DBBJ | BAC66781.1 | 401 | beta-1,6-N-acetylglucosaminyltransferase 2 [Homo sapiens] |
| GI:85790495 | DBBJ | BAG36218.1 | 402 | unnamed protein product [Homo sapiens] |
| GI:85790495 | EMBL | CAI46081.1 | 402 | hypothetical protein [Homo sapiens] |
| GI:4503963 | GenBank | AAL50561.1 | 400 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase [Homo sapiens] |
| GI:4503963 | GenBank | AAL50562.1 | 400 | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase [Homo sapiens] |
| GI:4503963 | GenBank | ABE20432.1 | 400 | Sequence 12 from patent US 6995004 |
| GI:85790495 | GenBank | EAW55259.1 | 402 | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group), isoform CRA_a [Homo sapiens] |
| GI:85790495 | GenBank | AAI30525.1 | 402 | Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) [Homo sapiens] |
| GI:4503963 | GenBank | ACE50482.1 | 400 | Sequence 12 from patent US 7381554 |
| GI:85790495 | GenBank | ADR82994.1 | 402 | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 3, partial [synthetic construct] |
| GI:21717810 | GenBank | JAA16828.1 | 402 | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) [Pan troglodytes] |
| GI:21717810 | GenBank | JAA38523.1 | 402 | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) [Pan troglodytes] |
| GI:85790495 | GenBank | AIC54445.1 | 402 | GCNT2, partial [synthetic construct] |
| GI:21717810 | RefSeq | XP_003827589.1 | 402 | PREDICTED: N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X2 [Pan paniscus] |
| GI:4503963 | RefSeq | XP_003827591.1 | 400 | PREDICTED: N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X3 [Pan paniscus] |
| GI:21717810 | RefSeq | XP_008951132.1 | 402 | PREDICTED: N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X2 [Pan paniscus] |
| GI:21717810 | RefSeq | XP_008951133.1 | 402 | PREDICTED: N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X2 [Pan paniscus] |
| GI:4503963 | RefSeq | XP_009448759.1 | 400 | PREDICTED: N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X3 [Pan troglodytes] |