TAS1R1

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

Basic information

Region (hg38): 1:6555307-6579755

Previous symbols: [ "GPR70" ]

Links

ENSG00000173662

∙ NCBI:80835 ∙ OMIM:606225 ∙ HGNC:14448 ∙ Uniprot:Q7RTX1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAS1R1 gene.

not_specified (93 variants)
not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS1R1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138697.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			84 clinvar	10 clinvar	3 clinvar	97
nonsense						0
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)						0
Total	0	0	84	11	4

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAS1R1	protein_coding	protein_coding	ENST00000333172	6	24577

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.34e-14	0.121	125084	5	659	125748	0.00264

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.406	463	488	0.948	0.0000275	5451
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0103	0.00973
Ashkenazi Jewish	0.00567	0.00567
East Asian	0.00157	0.00152
Finnish	0.0000518	0.0000462
European (Non-Finnish)	0.000863	0.000853
Middle Eastern	0.00157	0.00152
South Asian	0.00939	0.00925
Other	0.00212	0.00212

dbNSFP

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}.;
Pathway: Taste transduction - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Class C/3 (Metabotropic glutamate/pheromone receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.105

Intolerance Scores

loftool: 0.0502
rvis_EVS: 3.52
rvis_percentile_EVS: 99.47

Haploinsufficiency Scores

pHI: 0.107
hipred: N
hipred_score: 0.146
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.758

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Tas1r1
Phenotype: taste/olfaction phenotype; endocrine/exocrine gland phenotype; cellular phenotype; reproductive system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Gene ontology

Biological process: G protein-coupled receptor signaling pathway;detection of chemical stimulus involved in sensory perception of taste;sensory perception of umami taste
Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane
Molecular function: G protein-coupled receptor activity;taste receptor activity;signaling receptor activity;protein heterodimerization activity