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FLASH GENE

Symbol

ADCYAP1R1

contributors: mct - updated : 06-01-2021

HGNC name	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
HGNC id	242

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	7p14.3      Physical location : 31.092.141 - 31.146.311
Synonym name	pituitary adenylate cyclase activating polypeptide 1 receptor type I Hiphop
	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I
	(PACAP) type 1 receptor (PAC1R)
Synonym symbol(s)	PACAPR, PAC1R, PACAPR1
EC.number	4.6.1.1

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	59.17 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed PACAP1-R1 - - - - 525 - 2018 28926110 PACAP1-Rhip1 - splicing - - - - 2018 28926110 cytoplasmic insertion between TM5 and TM6, activating adenylate cyclase and phospholipase C PACAP1-Rhop1 - - - - - - 2018 28926110 cytoplasmic insertion between TM5 and TM6, activating adenylate cyclase and phospholipase C PACAP1-Rhop2 - splicing - - - - 2018 28926110 cytoplasmic insertion between TM5 and TM6, activating adenylate cyclase and phospholipase C PACAP1-Rhip-hop1 - splicing - - - - 2018 28926110 cytoplasmic insertion between TM5 and TM6, activating phospholipase C PACAP1-Rhip-hop2 - - - - - - 2018 28926110 cytoplasmic insertion between TM5 and TM6, activating phospholipase C NM_001199635 17 - 6723 NP_001186564 - 496 - 2018 28926110 NM_001199636 17 - 6720 NP_001186565 - 495 - 2018 28926110 NM_001118 16 - 6639 NP_001109 - 468 - 2018 28926110 NM_001199637 14 - 6576 NP_001186566 - 447 - 2018 28926110

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary       Nervous brain diencephalon amygdala   highly Homo sapiens   nerve         Respiratory respiratory tract trachea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular exocrine   Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	seven transmembrane segments (7TM) receptor
	with an insertion between TM5 and TM6 in variants

HOMOLOGY

interspecies

homolog to murine Adcyap1r1

Homologene

FAMILY

secretin family,coupling with Gs alpha protein and activating adenylate cyclase

CATEGORY

enzyme , receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in the physiological control of insulin release
	four spliced variants activating phospholipase C and one, the variant (PACAPR-TM4), activating L-type Ca++ channels
	has neurodevelopmental functions in the human cerebellum
	VIPR2 and/or ADCYAPR1 receptor activation is involved in cutaneous active vasodilation in humans
	play a critical role in biological processes that mediate stress response and have been implicated in psychological outcome following trauma
	importance of ADCYAP1R1 endosomal signaling as a key mechanism regulating cellular function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with IGF1R (ADCYAP1R1 transactivation is essential for IGF1 receptor signaling and antiapoptotic activity in neurons)
	action of GNRH1 in the regulation of gonadotropin subunit expression is enhanced by the presence of ADCYAP1R1
	ADCYAP1/ADCYAP1R1 internalization and recruitment of endosomal signaling regulate cardiac neuron excitability

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in macrophages is a common mechanism in response to acute and chronic pro-inflammatory stimuli

Susceptibility

to Cluster Headache (CH) to Posttraumatic stress disorder (PTSD) to severity of social deficits and functional amygdala connectivity in autism spectrum disorder

Variant & Polymorphism	association of CH with a common variant of the PACAP receptor gene (ADCYAP1R1)
	sex-dependent association between ADCYAP1R1 and Posttraumatic stress disorder (PTSD)
	ADCYAP1R1 genotype is linked to severity of social deficits and functional amygdala connectivity in ASD

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS