• Gene id: 553

Gene Summary

• Gene Symbol: AVPR1B   Gene   UCSC   Ensembl
• Aliases: AVPR3, V1bR
• Gene name: arginine vasopressin receptor 1B
• Alternate names: vasopressin V1b receptor, AVPR V1b, AVPR V3, antidiuretic hormone receptor 1B, arginine vasopressin receptor 3, pituitary vasopressin receptor 3, vasopressin V3 receptor,
• Gene location: 1q32.1 (206117387: 206106935)     Exons: 2     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosph
• OMIM: 608729

SNPs

rs4997052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31356367T>A
NC_000006.12   g.31356367T>G
NC_000006.11   g.31324144T>A
NC_000006.11   g.31324144T>G
NG_023187.1   g.5846A>T
NG_023187.1   g.5846A>C
NM_005514.8   c.419A>T
NM_005514.8   c.419A>C
NM_005514.7   c.419A>T
NM_005514.7   c.419A>C
NM_005514.6   c.

rs12676

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.53823776A>C
NC_000003.12   g.53823776A>T
NC_000003.11   g.53857803A>C
NC_000003.11   g.53857803A>T
NG_028042.1   g.27618T>G
NG_028042.1   g.27618T>A
NM_018397.5   c.233T>G
NM_018397.5   c.233T>A
NM_018397.4   c.233T>G
NM_018397.4   c.233T>A
XM_006713251  

Protein Summary

• Protein general information: P47901  
  • Name: Vasopressin V1b receptor (V1bR) (AVPR V1b) (AVPR V3) (Antidiuretic hormone receptor 1b) (Vasopressin V3 receptor)
  • Length: 424  
  • Mass: 46971
• Sequence:

  MDSGPLWDANPTPRGTLSAPNATTPWLGRDEELAKVEIGVLATVLVLATGGNLAVLLTLGQLGRKRSRMHLFVLH
  LALTDLAVALFQVLPQLLWDITYRFQGPDLLCRAVKYLQVLSMFASTYMLLAMTLDRYLAVCHPLRSLQQPGQST
  YLLIAAPWLLAAIFSLPQVFIFSLREVIQGSGVLDCWADFGFPWGPRAYLTWTTLAIFVLPVTMLTACYSLICHE
  ICKNLKVKTQAWRVGGGGWRTWDRPSPSTLAATTRGLPSRVSSINTISRAKIRTVKMTFVIVLAYIACWAPFFSV
  QMWSVWDKNAPDEDSTNVAFTISMLLGNLNSCCNPWIYMGFNSHLLPRPLRHLACCGGPQPRMRRRLSDGSLSSR
  HTTLLTRSSCPATLSLSLSLTLSGRPRPEESPRDLELADGEGTAETIIF

• Structural information:
  • Interpro: IPR015076  IPR000276  IPR017452  IPR001817  IPR000628  
  • Prosite: PS00237 PS50262
  • STRING: ENSP00000356094
• Other Databases: GeneCards:  AVPR1B  Malacards:  AVPR1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0007202	activation of phospholipase C activity	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005000	vasopressin receptor activity	IDA	molecular function
GO:0005000	vasopressin receptor activity	IDA	molecular function
GO:0042127	regulation of cell population proliferation	IDA	biological process
GO:0060732	positive regulation of inositol phosphate biosynthetic process	IDA	biological process
GO:0090238	positive regulation of arachidonic acid secretion	IDA	biological process
GO:0032430	positive regulation of phospholipase A2 activity	IDA	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0001992	regulation of systemic arterial blood pressure by vasopressin	IBA	biological process
GO:0005000	vasopressin receptor activity	IBA	molecular function
GO:0032870	cellular response to hormone stimulus	IBA	biological process
GO:0042277	peptide binding	IBA	molecular function
GO:0045907	positive regulation of vasoconstriction	IBA	biological process
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0005000	vasopressin receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005000	vasopressin receptor activity	TAS	molecular function
GO:0005080	protein kinase C binding	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	TAS	biological process
GO:0005768	endosome	TAS	cellular component
GO:0007202	activation of phospholipase C activity	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0001992	regulation of systemic arterial blood pressure by vasopressin	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04020	Calcium signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04270	Vascular smooth muscle contraction

Diseases

Associated diseases	References
Autism spectrum disorder	PMID:27920663
Bipolar disorder	PMID:24012103
Mood disorder	PMID:23962971
Pituitary adenoma	PMID:28692683
ACTH-secreting pituitary adenoma	PMID:23884782
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq