Reviewed,
UniProtKB/Swiss-Prot P21217 (FUT3_HUMAN)
Last modified
October 13, 2009.
Version 107.
History...
Clusters with 100%,
90%,
50% identity |
Documents (7) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Galactoside 3(4)-L-fucosyltransferase EC=2.4.1.65 Alternative name(s): Blood group Lewis alpha-4-fucosyltransferase Short name=Lewis FT Fucosyltransferase 3 Fucosyltransferase III Short name=FucT-III | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 361 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | May catalyze alpha-1,3 and alpha-1,4 glycosidic linkages involved in the expression of Vim-2, Lewis A, Lewis B, sialyl Lewis X and Lewis X/SSEA-1 antigens. May be involved in blood group Lewis determination; Lewis-positive (Le+) individuals have an active enzyme while Lewis-negative (Le-) individuals have an inactive enzyme. |
| Catalytic activity | GDP-beta-L-fucose + beta-D-galactosyl-(1->3)-N-acetyl-D-glucosaminyl-R = GDP + beta-D-galactosyl-(1->3)-(alpha-L-fucosyl-(1->4))-N-acetyl-beta-D-glucosaminyl-R. |
| Pathway | |
| Subcellular location | Golgi apparatus › Golgi stack membrane; Single-pass type II membrane protein. Note: Membrane-bound form in trans cisternae of Golgi. |
| Tissue specificity | Highly expressed in stomach, colon, small intestine, lung and kidney and to a lesser extent in salivary gland, bladder, uterus and liver. |
| Miscellaneous | Also acts on the corresponding 1,4-galactosyl derivative, forming 1,3-L-fucosyl links. |
| Sequence similarities | Belongs to the glycosyltransferase 10 family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Golgi apparatus Membrane |
| Coding sequence diversity | Polymorphism |
| Domain | Signal-anchor Transmembrane |
| Molecular function | Blood group antigen Glycosyltransferase Transferase |
| PTM | Glycoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | protein amino acid glycosylation Inferred from electronic annotation. Source: InterPro |
| Cellular component | Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-KW integral to membraneInferred from electronic annotation. Source: UniProtKB-SubCell membrane fraction Ref.1Traceable author statement. Source: ProtInc |
| Molecular function | 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase 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 – 361 | 361 | Galactoside 3(4)-L-fucosyltransferase | PRO_0000221096 | |||||
Regions | |||||||||
| Topological domain | 1 – 15 | 15 | Cytoplasmic Potential | ||||||
| Transmembrane | 16 – 34 | 19 | Signal-anchor for type II membrane protein Potential | ||||||
| Topological domain | 35 – 361 | 327 | Lumenal Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 154 | 1 | N-linked (GlcNAc...) Probable | ||||||
| Glycosylation | 185 | 1 | N-linked (GlcNAc...) Probable | ||||||
Natural variations | |||||||||
| Natural variant | 5 | 1 | G → S: dbSNP rs28362458. Ref.5 | VAR_022200 | |||||
| Natural variant | 20 | 1 | L → R in Le(-). dbSNP rs28362459. Ref.5 Ref.9 Ref.10 Ref.11 Ref.13 | VAR_003426 | |||||
| Natural variant | 68 | 1 | W → R in Le(-). dbSNP rs812936. Ref.5 Ref.13 Ref.4 Ref.6 Ref.14 | VAR_007959 | |||||
| Natural variant | 102 | 1 | Q → K in Le(+). Ref.15 | VAR_007960 | |||||
| Natural variant | 105 | 1 | T → M in Le(-). dbSNP rs778986. Ref.5 Ref.13 Ref.6 Ref.14 Ref.8 | VAR_003427 | |||||
| Natural variant | 124 | 1 | S → A in Le(+). Ref.15 | VAR_007961 | |||||
| Natural variant | 160 | 1 | R → C: dbSNP rs28362462. Ref.5 | VAR_022201 | |||||
| Natural variant | 162 | 1 | D → N in Le(-). dbSNP rs28362463. Ref.5 Ref.15 | VAR_007962 | |||||
| Natural variant | 170 | 1 | G → S in Le(-); completely inactive. dbSNP rs28362464. Ref.5 Ref.9 Ref.10 | VAR_003428 | |||||
| Natural variant | 223 | 1 | G → R in Le(-). dbSNP rs28362466. Ref.5 Ref.15 | VAR_007963 | |||||
| Natural variant | 270 | 1 | V → M in Le(-). dbSNP rs28381968. Ref.5 Ref.15 | VAR_007964 | |||||
| Natural variant | 325 | 1 | T → M: dbSNP rs28381969. Ref.5 | VAR_022202 | |||||
| Natural variant | 327 | 1 | R → Q: dbSNP rs28381970. Ref.5 | VAR_022203 | |||||
| Natural variant | 336 | 1 | D → A in Le(-). Ref.9 | VAR_003429 | |||||
| Natural variant | 356 | 1 | I → K in Le(-); less than 10% reduction in activity. dbSNP rs3894326. Ref.11 Ref.13 Ref.12 | VAR_003430 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A cloned human cDNA determines expression of a mouse stage-specific embryonic antigen and the Lewis blood group alpha(1,3/1,4)fucosyltransferase." Kukowska-Latallo J.F., Larsen R.D., Nair R.P., Lowe J.B. Genes Dev. 4:1288-1303(1990) [PubMed: 1977660] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Expression of human chromosome 19p alpha(1,3)-fucosyltransferase genes in normal tissues. Alternative splicing, polyadenylation, and isoforms." Cameron H.S., Szczepaniak D., Weston B.W. J. Biol. Chem. 270:20112-20122(1995) [PubMed: 7650030] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver. |
| [3] | "Isolation and expression of human alpha (1,3/1,4) fucosyltransferase." Rahim I., Schmidt L.R., Wahl D., Drayson E., Maslanik W., Stranahan P.L., Pettijohn D.E. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Squamous cell carcinoma. |
| [4] | "Allele frequencies of fucosyltransferases 1, 2, and 3 of Styrian blood donors." Matzhold E.M. Submitted (SEP-2008) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ARG-68. Tissue: Blood. |
| [5] | SeattleSNPs variation discovery resource Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-5; ARG-20; ARG-68; MET-105; CYS-160; ASN-162; SER-170; ARG-223; MET-270; MET-325 AND GLN-327. |
| [6] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS ARG-68 AND MET-105. |
| [7] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon and Lung. |
| [8] | "Genotypic heterogeneity among Lewis negative individuals." Elmgren A., Rydberg L., Larson G. Biochem. Biophys. Res. Commun. 196:515-520(1993) [PubMed: 8240322] [Abstract] Cited for: VARIANT LE(-) MET-105. |
| [9] | "Alpha (1,3/1,4)fucosyltransferase (FucT-III) gene is inactivated by a single amino acid substitution in Lewis histo-blood type negative individuals." Nishihara S., Yazawa S., Iwasaki H., Nakazato M., Kudo T., Ando T., Narimatsu H. Biochem. Biophys. Res. Commun. 196:624-631(1993) [PubMed: 8240337] [Abstract] Cited for: VARIANTS LE(-) ARG-20; SER-170 AND ALA-336. |
| [10] | "Analysis of Lewis fucosyltransferase genes from the human gastric mucosa of Lewis-positive and -negative individuals." Koda Y., Kimura H., Mekada E. Blood 82:2915-2919(1993) [PubMed: 8219240] [Abstract] Cited for: VARIANTS LE(-) ARG-20 AND SER-170. |
| [11] | "Molecular basis for Lewis alpha(1,3/1,4)-fucosyltransferase gene deficiency (FUT3) found in Lewis-negative Indonesian pedigrees." Mollicone R., Reguigne I., Kelly R.J., Fletcher A., Watt J., Chatfield S., Aziz A., Cameron H.S., Weston B.W., Lowe J.B., Oriol R. J. Biol. Chem. 269:20987-20994(1994) [PubMed: 8063716] [Abstract] Cited for: VARIANTS LE(-) ARG-20 AND LYS-356. |
| [12] | "Molecular genetic analysis of the human Lewis histo-blood group system." Nishihara S., Narimatsu H., Iwasaki H., Yazawa S., Akamatsu S., Ando T., Seno T., Narimatsu I. J. Biol. Chem. 269:29271-29278(1994) [PubMed: 7961897] [Abstract] Cited for: VARIANT LE(-) LYS-356. |
| [13] | "DNA sequencing and screening for point mutations in the human Lewis 'FUT3' gene enables molecular genotyping of the human Lewis blood group system." Elmgren A., Boerjeson C., Svensson L., Rydberg L., Larson G. Vox Sang. 70:97-103(1996) [PubMed: 8801770] [Abstract] Cited for: VARIANTS LE(-) ARG-20; ARG-68; MET-105 AND LYS-356. |
| [14] | "Significance of individual point mutations, T202C and C314T, in the human Lewis 'FUT3' gene for expression of Lewis antigens by the human alpha'1,3/1,4'-fucosyltransferase, Fuc-TIII." Elmgren A., Mollicone R., Costache M., Boerjeson C., Oriol R., Harrington J., Larson G. J. Biol. Chem. 272:21994-21998(1997) [PubMed: 9268337] [Abstract] Cited for: VARIANTS LE(-) ARG-68 AND MET-105. |
| [15] | "Five novel missense mutations of the Lewis gene 'FUT3' in African 'Xhosa' and Caucasian populations in South Africa." Pang H., Liu Y., Koda Y., Soejima M., Jia J., Schlaphoff T., du Toit E.D., Kimura H. Hum. Genet. 102:675-680(1998) [PubMed: 9703429] [Abstract] Cited for: VARIANTS LE(+) LYS-102 AND ALA-124, VARIANTS LE(-) ASN-162; ARG-223 AND MET-270. |
| + | Additional computationally mapped references. |
Web resources
| dbRBC/BGMUT Blood group antigen gene mutation database |
| GGDB GlycoGene database |
| SeattleSNPs |
| Functional Glycomics Gateway - GTase Fucosyltransferase 3 |
Cross-references
Sequence databases | |
|---|---|
| X53578 mRNA. Translation: CAA37641.1. U27326 mRNA. Translation: AAC50185.1. U27327 mRNA. Translation: AAC50186.1. U27328 mRNA. Translation: AAC50187.1. D89324 Genomic DNA. Translation: BAA13941.1. D89325 Genomic DNA. Translation: BAA13942.1. AF131913 mRNA. Translation: AAD33514.1. FM210024 Genomic DNA. Translation: CAR64692.1. AY870341 Genomic DNA. Translation: AAW34365.1. AC024592 Genomic DNA. No translation available. BC074836 mRNA. Translation: AAH74836.1. BC074837 mRNA. Translation: AAH74837.1. BC108675 mRNA. Translation: AAI08676.1. | |
| IPI | IPI00007671. |
| PIR | A36669. |
| RefSeq | NP_000140.1. NP_001091108.1. NP_001091109.1. NP_001091110.1. |
| UniGene | Hs.169238 Hs.631846 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | P21217. |
Protein family/group databases | |
| CAZy | GT10. Glycosyltransferase Family 10. |
Proteomic databases | |
| PRIDE | P21217. |
Genome annotation databases | |
| Ensembl | ENST00000303225; ENSP00000305603; ENSG00000171124; Homo sapiens. [Genome view] ENST00000402214; ENSP00000384749; ENSG00000171124; Homo sapiens. [Genome view] ENST00000443606; ENSP00000408589; ENSG00000171124; Homo sapiens. [Genome view] ENST00000458379; ENSP00000416443; ENSG00000171124; Homo sapiens. [Genome view] |
| GeneID | 2525. |
| KEGG | hsa:2525. |
| UCSC | uc002mdj.2. human. |
Organism-specific databases | |
| CTD | 2525. |
| GeneCards | GC19M005793. |
| H-InvDB | HIX0039971. |
| HGNC | HGNC:4014. FUT3. |
| MIM | 111100. gene+phenotype. |
| PharmGKB | PA28430. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | P21217. |
| HOVERGEN | P21217. |
Enzyme and pathway databases | |
| BRENDA | 2.4.1.65. 247. |
Gene expression databases | |
| ArrayExpress | P21217. |
| Bgee | P21217. |
| CleanEx | HS_FUT3. |
| Genevestigator | P21217. |
| GermOnline | ENSG00000171124. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001503. Glyco_trans_10. [Graphical view] |
| PANTHER | PTHR11929. Glyco_trans_10. 1 hit. |
| Pfam | PF00852. Glyco_transf_10. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 9943. |
| SOURCE | Search... |
Entry information
| Entry name | FUT3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P21217 Secondary accession number(s): B5U7U9 Q99449 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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. | ||||||||
Relevant documents
| Blood group antigen proteins Nomenclature of blood group antigens and list of entries |
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with


