ADCYAP1 adenylate cyclase activating polypeptide 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADCYAP1provided by HGNC
Official Full Name: adenylate cyclase activating polypeptide 1provided by HGNC
Primary source: HGNC:HGNC:241
See related: Ensembl:ENSG00000141433 MIM:102980; AllianceGenome:HGNC:241
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PACAP
Summary: This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target genes. The products of this gene are key mediators of neuroendocrine stress responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
Expression: Biased expression in appendix (RPKM 6.6), brain (RPKM 5.7) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (904411..912172)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (1058628..1066467)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (904872..912173)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alterations in pituitary adenylate cyclase-activating polypeptide in major depressive disorder, bipolar disorder, and comorbid depression in Alzheimer's disease in the human hypothalamus and prefrontal cortex.
Title: Alterations in pituitary adenylate cyclase-activating polypeptide in major depressive disorder, bipolar disorder, and comorbid depression in Alzheimer's disease in the human hypothalamus and prefrontal cortex.
Dedifferentiated Schwann cells promote perineural invasion mediated by the PACAP paracrine signalling in cervical cancer.
Title: Dedifferentiated Schwann cells promote perineural invasion mediated by the PACAP paracrine signalling in cervical cancer.
Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) and Sudden Infant Death Syndrome: A Potential Model for Investigation.
Title: Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) and Sudden Infant Death Syndrome: A Potential Model for Investigation.
The functional heterogeneity of PACAP: Stress, learning, and pathology.
Title: The functional heterogeneity of PACAP: Stress, learning, and pathology.
PACAP activates MRGPRX2 on meningeal mast cells to drive migraine-like pain.
Title: PACAP activates MRGPRX2 on meningeal mast cells to drive migraine-like pain.
Circulating PACAP levels are associated with increased amygdala-default mode network resting-state connectivity in posttraumatic stress disorder.
Title: Circulating PACAP levels are associated with increased amygdala-default mode network resting-state connectivity in posttraumatic stress disorder.
Increased pituitary adenylate cyclase-activating polypeptide in the central bed nucleus of the stria terminalis in mood disorders in men.
Title: Increased pituitary adenylate cyclase-activating polypeptide in the central bed nucleus of the stria terminalis in mood disorders in men.
Molecular and Physiological Functions of PACAP in Sweat Secretion.
Title: Molecular and Physiological Functions of PACAP in Sweat Secretion.
Distribution of PACAP and PAC1 Receptor in the Human Eye.
Title: Distribution of PACAP and PAC1 Receptor in the Human Eye.
PACAP-38 and PAC1 Receptor Alterations in Plasma and Cardiac Tissue Samples of Heart Failure Patients.
Title: PACAP-38 and PAC1 Receptor Alterations in Plasma and Cardiac Tissue Samples of Heart Failure Patients.

Submit: New GeneRIF Correction See all GeneRIFs (105)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	PACAP27-induced release of CCL5 inhibits HIV-1 Tat-mediated toxicity in human astrocytes	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481024

NoName (e-PCR)
- UniSTS:483072

GDB:197131 (e-PCR)
- UniSTS:155928

RH17915 (e-PCR)
- UniSTS:19738

D18S1372 (e-PCR)
- UniSTS:3358

D18S1231 (e-PCR)
- UniSTS:60209

ADCYAP1__4255 (e-PCR)
- UniSTS:463533

D18S1079 (e-PCR)
- UniSTS:154307

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables neuropeptide hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables neuropeptide hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptide hormone receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables peptide hormone receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables pituitary adenylate cyclase activating polypeptide activity	IBA Inferred from Biological aspect of Ancestor more info
enables pituitary adenylate cyclase activating polypeptide activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info

Process	Evidence Code	Pubs
involved_in activation of adenylate cyclase activity	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cAMP-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in female pregnancy	TAS Traceable Author Statement more info	PubMed
involved_in insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell cycle	IEA Inferred from Electronic Annotation more info
involved_in neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in neuropeptide signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuropeptide signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of chemokine (C-C motif) ligand 5 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of growth hormone secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of protein localization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in perikaryon	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: pituitary adenylate cyclase-activating polypeptide

Names: adenylate cyclase activating polypeptide 1 (pituitary); prepro-PACAP

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.

mRNA and Protein(s)

NM_001099733.2 → NP_001093203.1 pituitary adenylate cyclase-activating polypeptide preproprotein

See identical proteins and their annotated locations for NP_001093203.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AP000894, BC093837, DC320719

Consensus CDS

CCDS11825.1

UniProtKB/Swiss-Prot

B2R7N4, P18509, Q52LQ0

Related

ENSP00000411658.3, ENST00000450565.8

Conserved Domains (2) summary

smart00070
Location:83 → 109

GLUCA; Glucagon like hormones

pfam00123
Location:132 → 158

Hormone_2; Peptide hormone
NM_001117.5 → NP_001108.2 pituitary adenylate cyclase-activating polypeptide preproprotein

See identical proteins and their annotated locations for NP_001108.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AP000894, BC093837

Consensus CDS

CCDS11825.1

UniProtKB/Swiss-Prot

B2R7N4, P18509, Q52LQ0

Related

ENSP00000462647.1, ENST00000579794.1

Conserved Domains (2) summary

smart00070
Location:83 → 109

GLUCA; Glucagon like hormones

pfam00123
Location:132 → 158

Hormone_2; Peptide hormone

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

904411..912172

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005258081.5 → XP_005258138.2 pituitary adenylate cyclase-activating polypeptide isoform X2

UniProtKB/TrEMBL

B7Z222

Conserved Domains (2) summary

smart00070
Location:222 → 248

GLUCA; Glucagon like hormones

pfam00123
Location:271 → 297

Hormone_2; Peptide hormone
XM_047437288.1 → XP_047293244.1 pituitary adenylate cyclase-activating polypeptide isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

1058628..1066467

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054318174.1 → XP_054174149.1 pituitary adenylate cyclase-activating polypeptide isoform X3
XM_054318173.1 → XP_054174148.1 pituitary adenylate cyclase-activating polypeptide isoform X1