P19526 (FUT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Galactoside 2-alpha-L-fucosyltransferase 1
EC=2.4.1.69

Alternative name(s):
Alpha(1,2)FT 1
Blood group H alpha 2-fucosyltransferase
Fucosyltransferase 1
GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1

Gene names

Name:	FUT1
Synonyms:	H, HSC

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	365 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Galbeta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway. H and Se enzymes fucosylate the same acceptor substrates but exhibit different Km values.
Catalytic activity	GDP-beta-L-fucose + beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = GDP + alpha-L-fucosyl-(1->2)-beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Golgi apparatus › Golgi stack membrane; Single-pass type II membrane protein. Note: Membrane-bound form in trans cisternae of Golgi.
Polymorphism	Nonfunctional mutant of FUT1 are the cause of the H-Bombay blood group.
Miscellaneous	There are two genes (FUT1 and FUT2) which encode galactoside 2-L-fucosyltransferase. They are expressed in a tissue-specific manner with expression restricted to cells of mesodermal or endodermal origin respectively.
Sequence similarities	Belongs to the glycosyltransferase 11 family.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Blood group antigen Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	L-fucose catabolic process Non-traceable author statement. Source: UniProtKB protein glycosylation Traceable author statement. Source: UniProtKB
Cellular component	Golgi cisterna membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Traceable author statement. Source: ProtInc membrane fraction Traceable author statement. Source: ProtInc
Molecular function	galactoside 2-alpha-L-fucosyltransferase activity Traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 365	365	Galactoside 2-alpha-L-fucosyltransferase 1		PRO_0000149095
Regions
	Topological domain	1 – 8	8	Cytoplasmic Potential
	Transmembrane	9 – 25	17	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	26 – 365	340	Lumenal Potential
Amino acid modifications
	Glycosylation	65	1	N-linked (GlcNAc...) Potential
	Glycosylation	327	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	12	1	A → V. Ref.4 Corresponds to variant rs2071699 [ dbSNP | Ensembl ].		VAR_022268
	Natural variant	148	1	D → Y in para-Bombay allele H4. Ref.3 Corresponds to variant rs56346833 [ dbSNP | Ensembl ].		VAR_020536
	Natural variant	154	1	Y → C in Bombay H-. Ref.2		VAR_003417
	Natural variant	154	1	Y → H in para-Bombay allele H5. Ref.3 Corresponds to variant rs55678037 [ dbSNP | Ensembl ].		VAR_020537
	Natural variant	164	1	L → H in para-Bombay. Ref.6		VAR_009708
	Natural variant	171	1	W → C in Bombay H-. Ref.2		VAR_003418
	Natural variant	241	1	Y → H in para-Bombay allele H3. Ref.3 Corresponds to variant rs55907428 [ dbSNP | Ensembl ].		VAR_020538
	Natural variant	242	1	L → R in Bombay H-. Ref.7 Corresponds to variant rs28934588 [ dbSNP | Ensembl ].		VAR_009709
	Natural variant	259	1	V → E in Bombay H-. Ref.2		VAR_003419
	Natural variant	315	1	A → V in Bombay H-. Ref.2		VAR_003420
	Natural variant	348	1	E → K in para-Bombay allele H5. Ref.3 Corresponds to variant rs56131151 [ dbSNP | Ensembl ].		VAR_020539
	Natural variant	349	1	W → C in Bombay H-. Ref.2		VAR_003421

Sequences

	Sequence		Length	Mass (Da)
	P19526 [UniParc]. Last modified February 1, 1991. Version 1. Checksum: 4F4442EC375C9D9E	FASTA	365	41,251
	10 20 30 40 50 60 MWLRSHRQLC LAFLLVCVLS VIFFLHIHQD SFPHGLGLSI LCPDRRLVTP PVAIFCLPGT 70 80 90 100 110 120 AMGPNASSSC PQHPASLSGT WTVYPNGRFG NQMGQYATLL ALAQLNGRRA FILPAMHAAL 130 140 150 160 170 180 APVFRITLPV LAPEVDSRTP WRELQLHDWM SEEYADLRDP FLKLSGFPCS WTFFHHLREQ 190 200 210 220 230 240 IRREFTLHDH LREEAQSVLG QLRLGRTGDR PRTFVGVHVR RGDYLQVMPQ RWKGVVGDSA 250 260 270 280 290 300 YLRQAMDWFR ARHEAPVFVV TSNGMEWCKE NIDTSQGDVT FAGDGQEATP WKDFALLTQC 310 320 330 340 350 360 NHTIMTIGTF GFWAAYLAGG DTVYLANFTL PDSEFLKIFK PEAAFLPEWV GINADLSPLW TLAKP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning, sequence, and expression of a human GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase cDNA that can form the H blood group antigen." Larsen R.D., Ernst L.K., Nair R.P., Lowe J.B. Proc. Natl. Acad. Sci. U.S.A. 87:6674-6678(1990) [PubMed: 2118655] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Polymorphism of the h allele and the population frequency of sporadic nonfunctional alleles." Wagner F.F., Flegel W.A. Transfusion 37:284-290(1997) [PubMed: 9122901] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS BOMBAY CYS-154; CYS-171; GLU-259; VAL-315 AND CYS-349.
[3]	"Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals which inactivate H enzyme." Kaneko M., Nishihara S., Shinya N., Kudo T., Iwasaki H., Seno T., Okubo Y., Narimatsu H. Blood 90:839-849(1997) [PubMed: 9226185] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PARA-BOMBAY TYR-148; HIS-154; HIS-241 AND LYS-348.
[4]	SeattleSNPs variation discovery resource Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-12.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[6]	"Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals." Kelly R.J., Ernst L.K., Larsen R.D., Bryant J.G., Robinson J.S., Lowe J.B. Proc. Natl. Acad. Sci. U.S.A. 91:5843-5847(1994) [PubMed: 7912436] [Abstract] Cited for: VARIANT PARA-BOMBAY HIS-164.
[7]	"Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system." Koda Y., Soejima M., Johnson P.H., Smart E., Kimura H. Biochem. Biophys. Res. Commun. 238:21-25(1997) [PubMed: 9299444] [Abstract] Cited for: VARIANT BOMBAY ARG-242.
+	Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

GGDB

GlycoGene database

SeattleSNPs

Functional Glycomics Gateway - GTase

Fucosyltransferase 1

Cross-references

Sequence databases
EMBL GenBank DDBJ	M35531 mRNA. Translation: AAA52639.1. Z69587 Genomic DNA. Translation: CAA93435.1. AB004861 Genomic DNA. Translation: BAA20558.1. AB004862 Genomic DNA. Translation: BAA20559.1. AB004863 Genomic DNA. Translation: BAA20560.1. AY923051 Genomic DNA. Translation: AAW82437.1. BC074732 mRNA. Translation: AAH74732.1.
IPI	IPI00019466.
PIR	A36047.
RefSeq	NP_000139.1. NM_000148.3.
UniGene	Hs.69747.
3D structure databases
ProteinModelPortal	P19526.
ModBase	Search...
Protein-protein interaction databases
STRING	P19526.
Protein family/group databases
CAZy	GT11. Glycosyltransferase Family 11.
PTM databases
PhosphoSite	P19526.
Polymorphism databases
DMDM	120636.
Proteomic databases
PRIDE	P19526.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310160; ENSP00000312021; ENSG00000174951.
GeneID	2523.
KEGG	hsa:2523.
UCSC	uc002pkk.1. human.
Organism-specific databases
CTD	2523.
GeneCards	GC19M049251.
H-InvDB	HIX0040124.
HGNC	HGNC:4012. FUT1.
MIM	211100. gene+phenotype.
neXtProt	NX_P19526.
PharmGKB	PA28428.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG269777.
HOVERGEN	HBG004338.
InParanoid	P19526.
OMA	MDWFRAR.
OrthoDB	EOG4BK545.
PhylomeDB	P19526.
Enzyme and pathway databases
BRENDA	2.4.1.69. 2681.
Gene expression databases
ArrayExpress	P19526.
Bgee	P19526.
CleanEx	HS_FUT1.
Genevestigator	P19526.
GermOnline	ENSG00000174951. Homo sapiens.
Family and domain databases
InterPro	IPR002516. Glyco_trans_11. [Graphical view]
KO	K00718.
PANTHER	PTHR11927. Glyco_trans_11. 1 hit.
Pfam	PF01531. Glyco_transf_11. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	9933.
SOURCE	Search...

Entry information

Entry name

FUT1_HUMAN

Accession

Primary (citable) accession number: P19526
Secondary accession number(s): O14505, O14506, O14507

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1991
Last sequence update:	February 1, 1991
Last modified:	January 25, 2012
This is version 118 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.