ADIPOR1

adiponectin receptor 1, the group of Progestin and adipoQ receptor family|Adiponectin receptors

Basic information

Region (hg38): 1:202940826-202958572

Links

ENSG00000159346 ∙ NCBI:51094 ∙ OMIM:607945 ∙ HGNC:24040 ∙ Uniprot:Q96A54 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• retinitis pigmentosa (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADIPOR1 gene.

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADIPOR1 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			2	37	3	42
missense	1		66	4		71
nonsense						0
start loss			1			1
frameshift			4			4
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			7	7		14
non coding				21	3	24
Total	1	0	73	62	6

Variants in ADIPOR1

This is a list of pathogenic ClinVar variants found in the ADIPOR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-202941600-G-A			Likely benign (Dec 30, 2023)
1-202941611-C-G			Uncertain significance (Dec 19, 2021)
1-202941611-C-T			Uncertain significance (Nov 23, 2022)
1-202941612-G-A			Likely benign (Jan 06, 2022)
1-202941613-T-A			Uncertain significance (Feb 18, 2023)
1-202941643-T-C			Uncertain significance (Dec 19, 2023)
1-202941660-T-C			Likely benign (Aug 24, 2023)
1-202941667-A-T			Uncertain significance (Aug 30, 2021)
1-202941685-A-G			Uncertain significance (Aug 16, 2022)
1-202941699-G-A			Likely benign (Dec 27, 2023)
1-202941705-T-C			Likely benign (Feb 22, 2022)
1-202941706-A-G			Likely benign (Oct 09, 2021)
1-202941715-A-T			Likely benign (Nov 27, 2023)
1-202941717-GA-G			Benign (Oct 21, 2022)
1-202942008-G-A			Likely benign (May 18, 2022)
1-202942040-T-C			Likely benign (Jul 18, 2022)
1-202942043-A-G			Likely benign (Apr 28, 2022)
1-202942054-G-A			Uncertain significance (May 05, 2023)
1-202942055-C-T			Likely benign (Jan 19, 2024)
1-202942065-C-T			Uncertain significance (Jul 03, 2023)
1-202942069-C-T			Uncertain significance (Jan 26, 2024)
1-202942081-C-T			Uncertain significance (Jun 26, 2023)
1-202942095-T-C			Pathogenic (Oct 05, 2022)
1-202942096-A-T			Uncertain significance (Feb 04, 2022)
1-202942107-A-G			Uncertain significance (Dec 08, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADIPOR1	protein_coding	protein_coding	ENST00000340990	7	17750

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.658	0.341	125741	0	6	125747	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.82	105	224	0.469	0.0000126	2453
Missense in Polyphen		21	56.465	0.37191		724
Synonymous	0.0802	82	82.9	0.989	0.00000463	756
Loss of Function	3.08	3	16.5	0.181	7.67e-7	191

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000356	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:25855295, PubMed:12802337). Required for normal glucose and fat homeostasis and for maintaining a normal body weight. ADIPOQ-binding activates a signaling cascade that leads to increased AMPK activity, and ultimately to increased fatty acid oxidation, increased glucose uptake and decreased gluconeogenesis. Has high affinity for globular adiponectin and low affinity for full-length adiponectin (By similarity). {ECO:0000250|UniProtKB:Q91VH1, ECO:0000269|PubMed:12802337, ECO:0000269|PubMed:25855295}.
• Pathway: Adipocytokine signaling pathway - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);AMP-activated Protein Kinase (AMPK) Signaling;Leptin and adiponectin;AMPK inhibits chREBP transcriptional activation activity;Metabolism;Integration of energy metabolism (Consensus)

Recessive Scores

• pRec: 0.265

Intolerance Scores

• loftool: 0.223
• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

• pHI: 0.329
• hipred: Y
• hipred_score: 0.825
• ghis: 0.593

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: N
• gene_indispensability_score: 0.303

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adipor1
• Phenotype: vision/eye phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype

Zebrafish Information Network

• Gene name: adipor1b
• Affected structure: retinal rod cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: hormone-mediated signaling pathway;negative regulation of epithelial cell migration;negative regulation of epithelial to mesenchymal transition;regulation of glucose metabolic process;regulation of lipid metabolic process;fatty acid oxidation;negative regulation of cell growth;leptin-mediated signaling pathway;adiponectin-activated signaling pathway;regulation of fatty acid biosynthetic process;glucose homeostasis;negative regulation of JAK-STAT cascade;positive regulation of JAK-STAT cascade;positive regulation of insulin receptor signaling pathway;positive regulation of cold-induced thermogenesis;negative regulation of NIK/NF-kappaB signaling
• Cellular component: plasma membrane;membrane;integral component of membrane;intrinsic component of plasma membrane
• Molecular function: protein kinase binding;signaling receptor activity;identical protein binding;metal ion binding;protein heterodimerization activity;adiponectin binding;adipokinetic hormone receptor activity