• Gene id: 117

Gene Summary

• Gene Symbol: ADCYAP1R1   Gene   UCSC   Ensembl
• Aliases: PAC1, PAC1R, PACAPR, PACAPRI
• Gene name: ADCYAP receptor type I
• Alternate names: pituitary adenylate cyclase-activating polypeptide type I receptor, PACAP receptor 1, PACAP type I receptor, PACAP-R1, adenylate cyclase activating polypeptide 1 (pituitary) receptor type I, pituitary adenylate cyclase activating polypeptide 1 receptor type I ,
• Gene location: 7p14.3 (31052307: 31111478)     Exons: 18     NC_000007.14
• Gene summary(Entrez): This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of
• OMIM: 114184

SNPs

rs1893316

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

NC_000011.10   g.66026326G>A
NC_000011.9   g.65793797G>A
NG_016285.1   g.5192C>T
NM_053054.4   c.54C>T
NM_053054.3   c.54C>T
XR_949785.2   n.192C>T
XR_949787.2   n.193C>T
XR_002957121.1   n.192C>T
XR_002957122.1   n.193C>T|SEQ=[G/A]|GENE=CATSPER1

Protein Summary

• Protein general information: P41586  
  • Name: Pituitary adenylate cyclase activating polypeptide type I receptor (PACAP type I receptor) (PACAP R 1) (PACAP R1)
  • Length: 468  
  • Mass: 53314
  • Tissue specificity: Most abundant in the brain, low expression in the lung, liver, thymus, spleen, pancreas and placenta.
• Sequence:

  MAGVVHVSLAALLLLPMAPAMHSDCIFKKEQAMCLEKIQRANELMGFNDSSPGCPGMWDNITCWKPAHVGEMVLV
  SCPELFRIFNPDQVWETETIGESDFGDSNSLDLSDMGVVSRNCTEDGWSEPFPHYFDACGFDEYESETGDQDYYY
  LSVKALYTVGYSTSLVTLTTAMVILCRFRKLHCTRNFIHMNLFVSFMLRAISVFIKDWILYAEQDSNHCFISTVE
  CKAVMVFFHYCVVSNYFWLFIEGLYLFTLLVETFFPERRYFYWYTIIGWGTPTVCVTVWATLRLYFDDTGCWDMN
  DSTALWWVIKGPVVGSIMVNFVLFIGIIVILVQKLQSPDMGGNESSIYLRLARSTLLLIPLFGIHYTVFAFSPEN
  VSKRERLVFELGLGSFQGFVVAVLYCFLNGEVQAEIKRKWRSWKVNRYFAVDFKHRHPSLASSGVNGGTQLSILS
  KSSSQIRMSGLPADNLAT

• Structural information:
  • Interpro: IPR017981  IPR036445  IPR001879  IPR002285  IPR000832   IPR017983  
  • Prosite: PS00649 PS00650 PS50227 PS50261
  • PDB: 2JOD 3N94
  • PDBsum: 2JOD 3N94
  • DIP: 42467
  • STRING: ENSP00000483721
• Other Databases: GeneCards:  ADCYAP1R1  Malacards:  ADCYAP1R1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043005	neuron projection	IBA	cellular component
GO:0017046	peptide hormone binding	IBA	molecular function
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0008528	G protein-coupled peptide receptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0004999	vasoactive intestinal polypeptide receptor activity	IEA	molecular function
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007283	spermatogenesis	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0043235	receptor complex	IDA	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:0060732	positive regulation of inositol phosphate biosynthetic process	IEA	biological process
GO:0060548	negative regulation of cell death	IEA	biological process
GO:0046545	development of primary female sexual characteristics	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0043950	positive regulation of cAMP-mediated signaling	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0032355	response to estradiol	IEA	biological process
GO:0030306	ADP-ribosylation factor binding	IEA	molecular function
GO:0019933	cAMP-mediated signaling	IEA	biological process
GO:0010524	positive regulation of calcium ion transport into cytosol	IEA	biological process
GO:0007202	activation of phospholipase C activity	IEA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0051057	positive regulation of small GTPase mediated signal transduction	IEA	biological process
GO:0042923	neuropeptide binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0033555	multicellular organismal response to stress	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0008179	adenylate cyclase binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04024	cAMP signaling pathway
hsa04713	Circadian entrainment
hsa04911	Insulin secretion
hsa04924	Renin secretion

Diseases

Associated diseases	References
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