FUT1

protein-coding

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

Gene summary

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]

Previous symbols:

MANE transcript

NM_001384359.1

Inheritance

AR, BG

ClinVar variants

P:6U:44B:8

Top phenotype

Bombay phenotype

gnomAD constraint

pLI —, LoF o/e 0.68

Max pathogenic AF

—

Genomic locus

chr19:48,748,011-48,755,390

External References & Databases

Ensembl (ENSG00000174951)

Transcript & Mutation Effects

hg38 • Region Span ~7.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Bombay phenotypeLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0014763

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Bombay phenotypeBG

Manifestation: Hematologic

Intervention: Hematologic

Rationale: Variants associated with a blood group may be important in specific situations (eg, related to transfusion)

Comments: Digenic inheritance (with FUT2) has been described

Refs: 14918471; 13269394; 13767673; 5763629; 7246545; 7180848; 6177241; 6859043; 2118655; 7912436; 9299444

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FUT1 variants in ClinVar

7 Conditions Cataloged

not specifiedTotal: 46

Bombay phenotypeTotal: 4

Para-Bombay phenotypeTotal: 3

FUT1-related disorderTotal: 3

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

not providedTotal: 1

BOMBAY PHENOTYPE, DIGENICTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001384359.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar	2 clinvar	5
missense	3 clinvar		43 clinvar	3 clinvar		49
nonsense	1 clinvar		1 clinvar			2
start loss						0
frameshift	1 clinvar	1 clinvar				2
splice donor/acceptor (+/-2bp)						0
Total	5	1	44	6	2	58

Highest pathogenic variant AF is 0.00013102904

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001384359.1	RefSeq	NP_001371288.1	1	MANE Select
ENST00000645652.2	Ensembl	ENSP00000494643.1	1	MANE Select
NM_000148.4	RefSeq	NP_000139.1	1	Standard
NM_001329877.1	RefSeq	NP_001316806.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

carbohydrate metabolic process
protein glycosylation
fucosylation
L-fucose catabolic process

Molecular Function

galactoside 2-alpha-L-fucosyltransferase activity
fucosyltransferase activity

Cellular Component

Golgi apparatus
integral component of plasma membrane
membrane
Golgi cisterna membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000310160
Coding exons: 1
Length: 7380
Individuals with no LoFs: 125595
Homozygous LoFs: 0
Heterozygous LoFs: 151
Defined: 125746
p: 0.000601

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.598	211	237	0.891	0.0000173	2363
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0066	0.0066	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00015	0.00015	rare
South Asian	0.00027	0.00026	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.262

Intolerance Scores

LoFtool: 0.295
RVIS EVS: -0.16
RVIS percentile EVS: 41.64

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0394

Gene Damage Prediction

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