FUT1

fucosyltransferase 1 (H blood group), the group of Blood group antigens|Fucosyltransferases

Basic information

Region (hg38): 19:48748010-48755390

Previous symbols: [ "H", "HSC" ]

Links

ENSG00000174951 ∙ NCBI:2523 ∙ OMIM:211100 ∙ HGNC:4012 ∙ Uniprot:P19526 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Bombay phenotype	BG	Hematologic	Variants associated with a blood group may be important in specific situations (eg, related to transfusion)	Hematologic	14918471; 13269394; 13767673; 5763629; 7246545; 7180848; 6177241; 6859043; 2118655; 7912436; 9299444
Digenic inheritance (with FUT2) has been described

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FUT1 gene.

• Inborn genetic diseases (18 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FUT1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			16	2		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	1

Variants in FUT1

This is a list of pathogenic ClinVar variants found in the FUT1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-48750260-G-A		not specified	Uncertain significance (Jul 15, 2021)
19-48750334-G-C		Bombay phenotype	Affects (Jun 21, 1994)
19-48750343-C-A		not specified	Uncertain significance (Dec 11, 2023)
19-48750399-CAA-C		FUT1-related disorder	Pathogenic (Nov 27, 2023)
19-48750456-G-A		Para-Bombay phenotype	Pathogenic (Jun 21, 1994)
19-48750460-G-T		FUT1-related disorder	Benign (Dec 16, 2019)
19-48750557-A-C		BOMBAY PHENOTYPE, DIGENIC • Bombay phenotype	Pathogenic; Affects (Sep 08, 1997)
19-48750654-G-T		not specified	Uncertain significance (Nov 16, 2022)
19-48750656-T-G		not specified	Uncertain significance (Feb 06, 2024)
19-48750666-G-A		not specified	Uncertain significance (Oct 10, 2023)
19-48750674-C-T		not specified	Uncertain significance (Nov 07, 2022)
19-48750675-G-A		not specified	Uncertain significance (Nov 30, 2022)
19-48750737-C-T		not specified	Uncertain significance (Mar 29, 2023)
19-48750791-A-T		Para-Bombay phenotype	Pathogenic (Jun 21, 1994)
19-48750857-C-T		not specified	Likely benign (Jun 29, 2023)
19-48750864-G-A		not specified	Uncertain significance (Sep 07, 2022)
19-48750871-G-T		not specified	Uncertain significance (Jul 19, 2023)
19-48750880-T-G		not specified	Uncertain significance (Mar 06, 2023)
19-48750910-G-C		not specified	Uncertain significance (Sep 12, 2023)
19-48750912-A-G		not specified	Uncertain significance (Aug 15, 2023)
19-48750916-C-T		FUT1-related disorder	Likely benign (Feb 16, 2023)
19-48750933-G-A		Para-Bombay phenotype	Pathogenic (Feb 09, 2016)
19-48750948-T-C		not specified	Uncertain significance (Feb 22, 2023)
19-48751005-T-C		Bombay phenotype	Uncertain significance (Mar 26, 2024)
19-48751019-C-T		not specified	Uncertain significance (Feb 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FUT1	protein_coding	protein_coding	ENST00000310160	1	7380

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000546	0.717	125595	0	151	125746	0.000601

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.598	211	237	0.891	0.0000173	2363
Missense in Polyphen		90	101.12	0.88999		1144
Synonymous	0.528	100	107	0.935	0.00000825	799
Loss of Function	0.876	6	8.81	0.681	3.91e-7	80

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000149	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.00658	0.00660
Finnish	0.00	0.00
European (Non-Finnish)	0.000152	0.000149
Middle Eastern	0.00658	0.00660
South Asian	0.000269	0.000261
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Creates a soluble precursor oligosaccharide FuC-alpha ((1,2)Gal-beta-) called the H antigen which is an essential substrate for the final step in the soluble A and B antigen synthesis pathway. {ECO:0000269|PubMed:2118655}.
• Pathway: Glycosphingolipid biosynthesis - globo and isoglobo series - Homo sapiens (human);Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human);Ganglio Sphingolipid Metabolism;Globo Sphingolipid Metabolism;Glycosphingolipid biosynthesis - lactoseries;Glycosphingolipid biosynthesis - neolactoseries;Glycosphingolipid biosynthesis - globoseries (Consensus)

Recessive Scores

• pRec: 0.262

Intolerance Scores

• loftool: 0.295
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.64

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.312
• ghis: 0.432

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0394

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fut1
• Phenotype: reproductive system phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: carbohydrate metabolic process;protein glycosylation;fucosylation;L-fucose catabolic process
• Cellular component: Golgi apparatus;integral component of plasma membrane;membrane;Golgi cisterna membrane
• Molecular function: galactoside 2-alpha-L-fucosyltransferase activity;fucosyltransferase activity