TAS1R1

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

Basic information

Region (hg38): 1:6555306-6579755

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.

• Inborn genetic diseases (32 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.

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			28	4	4	36
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	5	5

Variants in TAS1R1

This is a list of pathogenic ClinVar variants found in the TAS1R1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-6555444-A-G		not specified	Uncertain significance (Feb 28, 2023)
1-6555479-G-A		not specified	Uncertain significance (Sep 27, 2021)
1-6555563-A-G		not specified	Uncertain significance (Feb 26, 2024)
1-6570918-C-T			Benign (May 31, 2018)
1-6570955-C-T		not specified	Uncertain significance (Apr 13, 2022)
1-6570956-G-A		not specified	Uncertain significance (Jan 26, 2022)
1-6571003-A-G		not specified	Likely benign (Feb 28, 2023)
1-6571207-G-A		not specified	Likely benign (Apr 18, 2023)
1-6571214-T-A		not specified	Uncertain significance (Nov 10, 2022)
1-6574663-C-A		not specified	Uncertain significance (Apr 27, 2023)
1-6574670-C-T		not specified	Uncertain significance (Apr 07, 2022)
1-6574673-C-G			Benign (Oct 09, 2017)
1-6574750-C-A		not specified	Uncertain significance (Sep 21, 2023)
1-6574758-C-T		not specified	Uncertain significance (Dec 02, 2022)
1-6574911-T-C		not specified	Uncertain significance (Jan 10, 2022)
1-6574970-G-A		not specified	Uncertain significance (Sep 25, 2023)
1-6574973-A-G		not specified	Uncertain significance (Sep 26, 2022)
1-6574991-G-A		not specified	Uncertain significance (Apr 28, 2022)
1-6575072-G-A		not specified	Uncertain significance (Feb 27, 2024)
1-6575081-C-T		not specified	Uncertain significance (Jul 20, 2021)
1-6575102-G-A		not specified	Uncertain significance (Dec 18, 2023)
1-6575159-C-T		not specified	Uncertain significance (Sep 22, 2023)
1-6575160-G-C		not specified	Uncertain significance (Jun 29, 2023)
1-6575241-T-C		not specified	Uncertain significance (Dec 21, 2022)
1-6575249-C-A			Benign (May 31, 2018)

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

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