TAS1R1

protein-coding

taste 1 receptor member 1, the group of Taste 1 receptors

Gene summary

The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

Previous symbols:

GPR70

MANE transcript

NM_138697.4

Inheritance

—

ClinVar variants

U:102B:15

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr1:6,555,307-6,579,755

External References & Databases

Ensembl (ENSG00000173662)

Transcript & Mutation Effects

hg38 • Region Span ~24.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TAS1R1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 101

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138697.4. 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			1 clinvar		1 clinvar	2
missense			97 clinvar	10 clinvar	3 clinvar	110
nonsense			3 clinvar			3
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	102	11	4	117

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138697.4	RefSeq	NP_619642.2	6	MANE Select
ENST00000333172.11	Ensembl	ENSP00000331867.6	6	MANE Select
NM_177540.3	RefSeq	NP_803884.1	5	Standard
ENST00000351136.7	Ensembl	ENSP00000312558.5	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Taste transduction - Homo sapiens (human)
Signaling by GPCR
Signal Transduction
Class C/3 (Metabotropic glutamate/pheromone receptors)
GPCR ligand binding

Biological Process

G protein-coupled receptor signaling pathway
detection of chemical stimulus involved in sensory perception of taste
sensory perception of umami taste

Molecular Function

G protein-coupled receptor activity
taste receptor activity
signaling receptor activity
protein heterodimerization activity

Cellular Component

plasma membrane
integral component of plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000333172
Coding exons: 6
Length: 24577
Individuals with no LoFs: 125084
Homozygous LoFs: 5
Heterozygous LoFs: 659
Defined: 125748
p: 0.00264

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.406	463	488	0.948	0.0000275	5451
Missense (PolyPhen)		174	161.41	1.078		1943
Synonymous	0.528	212	222	0.955	0.0000141	1774
Loss of Function	0.836	23	27.8	0.829	0.00000135	298

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0087	0.0082	notable
Latino/Admixed American	0.0016	0.0016	notable
Ashkenazi Jewish	0.0057	0.0057	notable
East Asian	0.0016	0.0015	notable
Finnish	0.000052	0.000046	rare
European (Non-Finnish)	0.00086	0.00085	rare
South Asian	0.0094	0.0093	notable
Other	0.0021	0.0021	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Putative taste receptor. TAS1R1/TAS1R3 responds to the umami taste stimulus (the taste of monosodium glutamate). Sequence differences within and between species can significantly influence the selectivity and specificity of taste responses. {ECO:0000269|PubMed:11917125}.;

Recessive Scores

pRec: 0.105

Intolerance Scores

LoFtool: 0.0502
RVIS EVS: 3.52
RVIS percentile EVS: 99.47

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.758

Gene Damage Prediction

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