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FUT1 (fucosyltransferase 1 (H blood group))

Gene

2523

Fucosyltransferase 1 (H blood group)

FUT1

H, HH, HSC

19q13.33

This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28934588	A>C	Affects, pathogenic	Coding sequence variant, missense variant
rs104894686	G>A,C	Affects	Stop gained, coding sequence variant, synonymous variant
rs104894687	A>T	Pathogenic	Coding sequence variant, missense variant
rs104894688	G>A	Pathogenic	Coding sequence variant, stop gained
rs150074056	G>A	Pathogenic	Missense variant, coding sequence variant

Show/Hide all(111)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021792	hsa-miR-132-3p	Microarray	17612493
MIRT530506	hsa-miR-5692a	PAR-CLIP	22012620
MIRT542182	hsa-miR-196a-3p	PAR-CLIP	21572407
MIRT542182	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT542182	hsa-miR-196a-3p	HITS-CLIP	23706177
MIRT542182	hsa-miR-196a-3p	PAR-CLIP	27292025
MIRT542182	hsa-miR-196a-3p	HITS-CLIP	27418678
MIRT542183	hsa-miR-661	PAR-CLIP	21572407
MIRT542183	hsa-miR-661	HITS-CLIP	23824327
MIRT542183	hsa-miR-661	HITS-CLIP	23706177
MIRT542183	hsa-miR-661	PAR-CLIP	27292025
MIRT542183	hsa-miR-661	HITS-CLIP	27418678
MIRT542184	hsa-miR-4725-5p	PAR-CLIP	21572407
MIRT542184	hsa-miR-4725-5p	HITS-CLIP	23824327
MIRT542184	hsa-miR-4725-5p	HITS-CLIP	23706177
MIRT542184	hsa-miR-4725-5p	PAR-CLIP	27292025
MIRT542184	hsa-miR-4725-5p	HITS-CLIP	27418678
MIRT542185	hsa-miR-6860	PAR-CLIP	21572407
MIRT542185	hsa-miR-6860	HITS-CLIP	23824327
MIRT542185	hsa-miR-6860	HITS-CLIP	23706177
MIRT542185	hsa-miR-6860	PAR-CLIP	27292025
MIRT542185	hsa-miR-6860	HITS-CLIP	27418678
MIRT542186	hsa-miR-612	PAR-CLIP	21572407
MIRT542186	hsa-miR-612	HITS-CLIP	23824327
MIRT542186	hsa-miR-612	HITS-CLIP	23706177
MIRT542186	hsa-miR-612	PAR-CLIP	27292025
MIRT542186	hsa-miR-612	HITS-CLIP	27418678
MIRT542187	hsa-miR-5189-5p	PAR-CLIP	21572407
MIRT542187	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT542187	hsa-miR-5189-5p	HITS-CLIP	23706177
MIRT542187	hsa-miR-5189-5p	PAR-CLIP	27292025
MIRT542187	hsa-miR-5189-5p	HITS-CLIP	27418678
MIRT542188	hsa-miR-3187-5p	PAR-CLIP	21572407
MIRT542188	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT542188	hsa-miR-3187-5p	HITS-CLIP	23706177
MIRT542188	hsa-miR-3187-5p	PAR-CLIP	27292025
MIRT542188	hsa-miR-3187-5p	HITS-CLIP	27418678
MIRT542189	hsa-miR-1285-3p	PAR-CLIP	21572407
MIRT542189	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT542189	hsa-miR-1285-3p	HITS-CLIP	23706177
MIRT542189	hsa-miR-1285-3p	PAR-CLIP	27292025
MIRT542189	hsa-miR-1285-3p	HITS-CLIP	27418678
MIRT542190	hsa-miR-5699-3p	PAR-CLIP	21572407
MIRT542190	hsa-miR-5699-3p	HITS-CLIP	23824327
MIRT542190	hsa-miR-5699-3p	HITS-CLIP	23706177
MIRT542190	hsa-miR-5699-3p	PAR-CLIP	27292025
MIRT542190	hsa-miR-5699-3p	HITS-CLIP	27418678
MIRT542191	hsa-miR-4421	PAR-CLIP	21572407
MIRT542191	hsa-miR-4421	HITS-CLIP	23824327
MIRT542191	hsa-miR-4421	HITS-CLIP	23706177
MIRT542191	hsa-miR-4421	PAR-CLIP	27292025
MIRT542191	hsa-miR-4421	HITS-CLIP	27418678
MIRT542192	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT542192	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT542192	hsa-miR-939-3p	HITS-CLIP	23706177
MIRT542192	hsa-miR-939-3p	PAR-CLIP	27292025
MIRT542192	hsa-miR-939-3p	HITS-CLIP	27418678
MIRT542193	hsa-miR-339-5p	PAR-CLIP	21572407
MIRT542193	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT542193	hsa-miR-339-5p	HITS-CLIP	23706177
MIRT542193	hsa-miR-339-5p	PAR-CLIP	27292025
MIRT542193	hsa-miR-339-5p	HITS-CLIP	27418678
MIRT542194	hsa-miR-10b-5p	PAR-CLIP	21572407
MIRT542194	hsa-miR-10b-5p	HITS-CLIP	23824327
MIRT542194	hsa-miR-10b-5p	HITS-CLIP	23706177
MIRT542194	hsa-miR-10b-5p	PAR-CLIP	27292025
MIRT542194	hsa-miR-10b-5p	HITS-CLIP	27418678
MIRT542195	hsa-miR-10a-5p	PAR-CLIP	21572407
MIRT542195	hsa-miR-10a-5p	HITS-CLIP	23824327
MIRT542195	hsa-miR-10a-5p	HITS-CLIP	23706177
MIRT542195	hsa-miR-10a-5p	PAR-CLIP	27292025
MIRT542195	hsa-miR-10a-5p	HITS-CLIP	27418678
MIRT631794	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT631794	hsa-miR-6720-5p	HITS-CLIP	27418678
MIRT631795	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT631795	hsa-miR-6512-3p	HITS-CLIP	27418678
MIRT631796	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT631796	hsa-miR-766-3p	HITS-CLIP	27418678
MIRT631797	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT631797	hsa-miR-6849-3p	HITS-CLIP	27418678
MIRT631798	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT631798	hsa-miR-508-5p	HITS-CLIP	27418678
MIRT664103	hsa-miR-7703	HITS-CLIP	23824327
MIRT664103	hsa-miR-7703	HITS-CLIP	27418678
MIRT664104	hsa-miR-6735-3p	HITS-CLIP	23824327
MIRT664105	hsa-miR-4252	HITS-CLIP	23824327
MIRT664106	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT664107	hsa-miR-3176	HITS-CLIP	23824327
MIRT664108	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT664109	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT664110	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT664111	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT664112	hsa-miR-514a-5p	HITS-CLIP	23824327
MIRT718755	hsa-miR-587	HITS-CLIP	19536157
MIRT718756	hsa-miR-5087	HITS-CLIP	19536157
MIRT718757	hsa-miR-8068	HITS-CLIP	19536157
MIRT718758	hsa-miR-8069	HITS-CLIP	19536157
MIRT718759	hsa-miR-1273f	HITS-CLIP	19536157
MIRT735414	hsa-miR-122-3p	ELISA, Luciferase reporter assay, qRT-PCR, Western blot	26636761
MIRT762254	hsa-miR-1288-5p	PAR-CLIP	27292025
MIRT769269	hsa-miR-4459	PAR-CLIP	27292025
MIRT770607	hsa-miR-4648	PAR-CLIP	27292025
MIRT770758	hsa-miR-4654	PAR-CLIP	27292025
MIRT770947	hsa-miR-4683	PAR-CLIP	27292025
MIRT772186	hsa-miR-4769-5p	PAR-CLIP	27292025
MIRT773946	hsa-miR-541-3p	PAR-CLIP	27292025
MIRT775737	hsa-miR-6089	PAR-CLIP	27292025
MIRT775937	hsa-miR-6134	PAR-CLIP	27292025
MIRT777291	hsa-miR-654-5p	PAR-CLIP	27292025
MIRT777824	hsa-miR-6721-5p	PAR-CLIP	27292025
MIRT781093	hsa-miR-6888-5p	PAR-CLIP	27292025

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001936	Process	Regulation of endothelial cell proliferation	ISS
GO:0001954	Process	Positive regulation of cell-matrix adhesion	IMP	18205178
GO:0005794	Component	Golgi apparatus	TAS	11698403
GO:0005887	Component	Integral component of plasma membrane	TAS	2118655
GO:0005975	Process	Carbohydrate metabolic process	TAS	2118655
GO:0006486	Process	Protein glycosylation	IBA	21873635
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	ISS
GO:0006486	Process	Protein glycosylation	TAS	11698403
GO:0008107	Function	Galactoside 2-alpha-L-fucosyltransferase activity	IBA	21873635
GO:0008107	Function	Galactoside 2-alpha-L-fucosyltransferase activity	TAS	11698403
GO:0008417	Function	Fucosyltransferase activity	TAS	2118655
GO:0010595	Process	Positive regulation of endothelial cell migration	IMP	18205178
GO:0016020	Component	Membrane	TAS	2118655
GO:0021772	Process	Olfactory bulb development	ISS
GO:0030155	Process	Regulation of cell adhesion	ISS
GO:0031127	Function	Alpha-(1,2)-fucosyltransferase activity	ISS
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0036065	Process	Fucosylation	IBA	21873635
GO:0036065	Process	Fucosylation	ISS
GO:0042355	Process	L-fucose catabolic process	NAS	11698403
GO:1903672	Process	Positive regulation of sprouting angiogenesis	IMP	18205178
GO:1904906	Process	Positive regulation of endothelial cell-matrix adhesion via fibronectin	IMP	18205178

MIM	HGNC	e!Ensembl
211100	4012	ENSG00000174951

Protein

UniProt ID

P19526

Protein name

Galactoside alpha-(1,2)-fucosyltransferase 1 (Alpha(1,2)FT 1) (Blood group H alpha 2-fucosyltransferase) (Fucosyltransferase 1) (GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1) (Type 1 galactoside alpha-(1,2)-fucosyltransferase FUT1) (EC 2.4.1.69) (Type 2 galactoside alpha-(1,2)-fucosyltransferase FUT1) (EC 2.4.1.344)

Protein function

Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the terminal galactose residue of glycoconjugates through an alpha(1,2) linkage leading to H antigen synthesis that is an intermediate substrate in the synthesis of ABO blood group antigens (PubMed:2118655). H antigen is essential for maturation of the glomerular layer of the main olfactory bulb, in cell migration and early cell-cell contacts during tumor associated angiogenesis (PubMed:18205178). Preferentially fucosylates soluble lactose and to a lesser extent fucosylates glycolipids gangliosides GA1 and GM1a (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01531	Glyco_transf_11	37 → 353	Glycosyl transferase family 11	Family

Sequence

MWLRSHRQLCLAFLLVCVLSVIFFLHIHQDSFPHGLGLSILCPDRRLVTPPVAIFCLPGT
AMGPNASSSCPQHPASLSGTWTVYPNGRFGNQMGQYATLLALAQLNGRRAFILPAMHAAL
APVFRITLPVLAPEVDSRTPWRELQLHDWMSEEYADLRDPFLKLSGFPCSWTFFHHLREQ
IRREFTLHDHLREEAQSVLGQLRLGRTGDRPRTFVGVHVRRGDYLQVMPQRWKGVVGDSA
YLRQAMDWFRARHEAPVFVVTSNGMEWCKENIDTSQGDVTFAGDGQEATPWKDFALLTQC
NHTIMTIGTFGFWAAYLAGGDTVYLANFTLPDSEFLKIFKPEAAFLPEWVGINADLSPLW
TLAKP

Sequence length

365

Interactions

View interactions

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