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ADCY5 adenylate cyclase 5 [ Homo sapiens (human) ]

Gene ID: 111, updated on 21-Jun-2020

Summary

Official Symbol
ADCY5provided by HGNC
Official Full Name
adenylate cyclase 5provided by HGNC
Primary source
HGNC:HGNC:236
See related
Ensembl:ENSG00000173175 MIM:600293
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
AC5; FDFM
Summary
This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Expression
Broad expression in heart (RPKM 22.9), brain (RPKM 7.3) and 17 other tissues See more
Orthologs

Genomic context

See ADCY5 in Genome Data Viewer
Location:
3q21.1
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (123282296..123449090, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (123001143..123167924, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protein disulfide isomerase family A member 5 Neighboring gene microRNA 7110 Neighboring gene SEC22 homolog A, vesicle trafficking protein Neighboring gene 3-hydroxyacyl-CoA dehydratase 2 Neighboring gene MYLK antisense RNA 1 Neighboring gene myosin light chain kinase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dyskinesia, familial, with facial myokymia
MedGen: C1847627 OMIM: 606703 GeneReviews: ADCY5-Related Dyskinesia
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
NHGRI GWA Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
NHGRI GWA Catalog
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
NHGRI GWA Catalog
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
NHGRI GWA Catalog
Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The addition of HIV-1 gp120 with TNF-alpha to human B-cells stimulates cAMP production in a dose-dependent manner PubMed
Envelope transmembrane glycoprotein gp41 env Secretion of IL-10 is upregulated by HIV-1 gp41 in monocytes through activation of cAMP/adenylate cyclase and p70 (S6)-kinase; up-regulation of IL-10 is paralleled by an enhanced expression of the chemokine receptor CCR5 PubMed
Nef nef HIV-1 induces the upregulation of complement factor C3 in astrocytes and neurons through signaling pathways that involve protein kinase C and adenylate cyclase activation, which is an effect that may contribute to the pathogenesis of AIDS in the brain PubMed
Tat tat HIV-1 Tat inhibits adenylyl cyclase activity in microglia and astrocyte cultures from neonatal rat brain, suggesting that Tat inhibition of cAMP synthesis may contribute to neuronal degeneration and cell death associated with HIV infection PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
adenylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase activity IDA
Inferred from Direct Assay
more info
PubMed 
adenylate cyclase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
adenylate cyclase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
scaffold protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of adenylate cyclase activity TAS
Traceable Author Statement
more info
 
activation of protein kinase A activity TAS
Traceable Author Statement
more info
 
adenosine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
adenylate cyclase-activating dopamine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
adenylate cyclase-inhibiting dopamine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cAMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cAMP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
cAMP biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to forskolin IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to glucagon stimulus TAS
Traceable Author Statement
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cytosolic calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of insulin secretion involved in cellular response to glucose stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
renal water homeostasis TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
adenylate cyclase type 5
Names
ATP pyrophosphate-lyase 5
adenylate cyclase type V
adenylyl cyclase 5
epididymis secretory sperm binding protein
NP_001186571.1
NP_001365188.1
NP_899200.1
XP_005247135.1
XP_006713546.1
XP_006713547.1
XP_011510661.1
XP_011510662.1
XP_011510663.1
XP_016861127.1
XP_016861128.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_033882.1 RefSeqGene

    Range
    5001..171250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199642.1NP_001186571.1  adenylate cyclase type 5 isoform 2

    See identical proteins and their annotated locations for NP_001186571.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC112503, AK303070
    Consensus CDS
    CCDS56274.1
    UniProtKB/Swiss-Prot
    O95622
    Related
    ENSP00000308685.5, ENST00000309879.9
    Conserved Domains (4) summary
    smart00044
    Location:74269
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:712906
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam06327
    Location:318410
    DUF1053; Domain of Unknown Function (DUF1053)
    pfam16214
    Location:27108
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  2. NM_001378259.1NP_001365188.1  adenylate cyclase type 5 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC025571, AC112503
  3. NM_183357.3NP_899200.1  adenylate cyclase type 5 isoform 1

    See identical proteins and their annotated locations for NP_899200.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC025571, AC112503, AF497517
    Consensus CDS
    CCDS3022.1
    UniProtKB/Swiss-Prot
    O95622
    UniProtKB/TrEMBL
    B7Z2C7
    Related
    ENSP00000419361.1, ENST00000462833.5
    Conserved Domains (3) summary
    pfam00211
    Location:10621256
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam06327
    Location:668760
    DUF1053; Domain of Unknown Function (DUF1053)
    pfam16214
    Location:1458
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    123282296..123449090 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512359.2XP_011510661.1  adenylate cyclase type 5 isoform X2

    Conserved Domains (4) summary
    smart00044
    Location:91286
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:754948
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam06327
    Location:335427
    DUF1053; Domain of Unknown Function (DUF1053)
    pfam16214
    Location:46125
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  2. XM_005247078.1XP_005247135.1  adenylate cyclase type 5 isoform X4

    Conserved Domains (4) summary
    smart00044
    Location:74269
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:737931
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam06327
    Location:318410
    DUF1053; Domain of Unknown Function (DUF1053)
    pfam16214
    Location:27108
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  3. XM_006713484.1XP_006713547.1  adenylate cyclase type 5 isoform X8

    See identical proteins and their annotated locations for XP_006713547.1

    Conserved Domains (4) summary
    smart00044
    Location:3178
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:646840
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam06327
    Location:227319
    DUF1053; Domain of Unknown Function (DUF1053)
    pfam16214
    Location:117
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  4. XM_011512361.1XP_011510663.1  adenylate cyclase type 5 isoform X8

    See identical proteins and their annotated locations for XP_011510663.1

    Conserved Domains (4) summary
    smart00044
    Location:3178
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:646840
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam06327
    Location:227319
    DUF1053; Domain of Unknown Function (DUF1053)
    pfam16214
    Location:117
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  5. XM_017005639.1XP_016861128.1  adenylate cyclase type 5 isoform X6

  6. XM_017005638.1XP_016861127.1  adenylate cyclase type 5 isoform X3

  7. XM_006713483.1XP_006713546.1  adenylate cyclase type 5 isoform X7

    See identical proteins and their annotated locations for XP_006713546.1

    UniProtKB/TrEMBL
    B3KWA8
    Related
    ENSP00000418537.1, ENST00000491190.5
    Conserved Domains (4) summary
    smart00044
    Location:57252
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:720914
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam06327
    Location:301393
    DUF1053; Domain of Unknown Function (DUF1053)
    pfam16214
    Location:1191
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  8. XM_011512360.3XP_011510662.1  adenylate cyclase type 5 isoform X5

    Conserved Domains (4) summary
    smart00044
    Location:61256
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:724918
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam06327
    Location:305397
    DUF1053; Domain of Unknown Function (DUF1053)
    pfam16214
    Location:1495
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
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