GPR101 G protein-coupled receptor 101 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GPR101provided by HGNC
Official Full Name: G protein-coupled receptor 101provided by HGNC
Primary source: HGNC:HGNC:14963
See related: Ensembl:ENSG00000165370 MIM:300393; AllianceGenome:HGNC:14963
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GPCR6; PAGH2; PITA2
Summary: The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011]
Orthologs: mouse all
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Genomic context

Location:: Xq26.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (137023929..137033995, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (135332378..135342444, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (136106088..136116154, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GPR101: Modeling a constitutively active receptor linked to X-linked acrogigantism.
Title: GPR101: Modeling a constitutively active receptor linked to X-linked acrogigantism.
GPR101 drives growth hormone hypersecretion and gigantism in mice via constitutive activation of Gs and Gq/11.
Title: GPR101 drives growth hormone hypersecretion and gigantism in mice via constitutive activation of G(s) and G(q/11).
findings demonstrate a fundamental role for GPR101 in mediating the leukocyte-directed actions of RvD5n-3 DPA.
Title: GPR101 mediates the pro-resolving actions of RvD5n-3 DPA in arthritis and infections.
Duplications of GPR101 gene are associated with X-linked acrogigantism and acromegaly; 924 G>C mutation is associated with sporadic acromegaly
Title: Mutations in GPR101 as a potential cause of X-linked acrogigantism and acromegaly.
Germline or somatic microduplications of the Xq26.3 chromosomal region, invariably involving the GPR101 gene, constitute the genetic defect leading to X-Linked Acrogigantism. GPR101 encodes a class A G protein-coupled receptor that activates the 3',5'-cyclic adenosine monophosphate signaling pathway.
Title: An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations.
This study shows that different GPR101 transcripts exist and that the brain is the major site of GPR101 expression across different species, although divergent species- and temporal-specific expression patterns are evident. These findings suggest an important role for GPR101 in brain and pituitary development and likely reflect the very different growth, development and maturation patterns among species.
Title: Characterization of GPR101 transcript structure and expression patterns.
Study showed that X-linked acrogigantism (XLAG) can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing.
Title: Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.
p.E308D variant not found in acromegaly cases
Title: Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.
This study did not identify GPR101 abnormalities as a frequent cause of growth hormone deficiency.
Title: GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency.
Germline GPR101 mutations are very rare in patients with sporadic pituitary adenomas of various histotypes.
Title: Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pituitary adenoma, growth hormone-secreting, 2 MedGen: C4012409 OMIM: 300943 GeneReviews: Not available	not available
X-linked acrogigantism due to Xq26 microduplication MedGen: C3891556 OMIM: 300942 GeneReviews: X-Linked Acrogigantism	not available

Variation

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See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GPR101_2082 (e-PCR)
- UniSTS:280701

NoName (e-PCR)
- UniSTS:481773

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adenylate cyclase-activating adrenergic receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: probable G-protein coupled receptor 101

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016367.2 RefSeqGene

Range

5001..15067

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1000

mRNA and Protein(s)

NM_054021.2 → NP_473362.1 probable G-protein coupled receptor 101

See identical proteins and their annotated locations for NP_473362.1

Status: VALIDATED

Source sequence(s)

AL390879

Consensus CDS

CCDS14662.1

UniProtKB/Swiss-Prot

Q5JSM8, Q8NG93, Q96P66

Related

ENSP00000498972.1, ENST00000651716.2

Conserved Domains (2) summary

pfam00001
Location:48 → 222

7tm_1; 7 transmembrane receptor (rhodopsin family)

pfam09309
Location:243 → 334

FCP1_C; FCP1, C-terminal