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ADCY3 adenylate cyclase 3 [ Homo sapiens (human) ]

Gene ID: 109, updated on 5-May-2020

Summary

Official Symbol
ADCY3provided by HGNC
Official Full Name
adenylate cyclase 3provided by HGNC
Primary source
HGNC:HGNC:234
See related
Ensembl:ENSG00000138031 MIM:600291
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
AC3; AC-III; BMIQ19
Summary
This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in placenta (RPKM 27.7), ovary (RPKM 14.8) and 23 other tissues See more
Orthologs

Genomic context

See ADCY3 in Genome Data Viewer
Location:
2p23.3
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (24819169..24920237, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (25042038..25142602, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene nuclear receptor coactivator 1 Neighboring gene RNA, U6 small nuclear 936, pseudogene Neighboring gene uncharacterized LOC105369164 Neighboring gene uncharacterized LOC105377626 Neighboring gene peptidyl-tRNA hydrolase domain containing 1 Neighboring gene centromere protein O Neighboring gene DNAJC27 antisense RNA 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member C27 Neighboring gene ribosomal protein S13 pseudogene 5

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
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
MedGen: C4693522 OMIM: 617885 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
NHGRI GWA Catalog
A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.
NHGRI GWA Catalog
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA Catalog
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
NHGRI GWA Catalog
Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
NHGRI GWA Catalog
Genome-wide association study of height-adjusted BMI in childhood identifies functional variant in ADCY3.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Meta-analysis identifies common variants associated with body mass index in east Asians.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
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

Clone Names

  • KIAA0511

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
acrosome reaction ISS
Inferred from Sequence or Structural Similarity
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
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
adenylate cyclase-activating G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
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
 
cAMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cAMP biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to forskolin ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to glucagon stimulus TAS
Traceable Author Statement
more info
 
flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
 
olfactory learning ISS
Inferred from Sequence or Structural Similarity
more info
 
renal water homeostasis TAS
Traceable Author Statement
more info
 
sensory perception of smell ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
single fertilization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
adenylate cyclase type 3
Names
ATP pyrophosphate-lyase 3
adenylate cyclase type III
adenylate cyclase, olfactive type
adenylyl cyclase 3
adenylyl cyclase, type III
NP_001307542.1
NP_001364057.1
NP_001364058.1
NP_001364059.1
NP_001364060.1
NP_001364061.1
NP_004027.2
XP_006711988.1
XP_011530791.1
XP_011530792.1
XP_011530793.1
XP_011530794.1
XP_011530795.1
XP_011530796.1
XP_011530798.1
XP_016858676.1
XP_016858677.1
XP_016858678.1
XP_016858680.1
XP_016858681.1

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.

mRNA and Protein(s)

  1. NM_001320613.2NP_001307542.1  adenylate cyclase type 3 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC012073, BC020148, BC126235, BC144119, BM148122, HY136273
    Consensus CDS
    CCDS82424.1
    UniProtKB/Swiss-Prot
    O60266
    UniProtKB/TrEMBL
    A0A0A0MSC1, B7ZLX9
    Related
    ENSP00000384484.2, ENST00000405392.5
    Conserved Domains (3) summary
    smart00044
    Location:8841102
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:9151122
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  2. NM_001377128.1NP_001364057.1  adenylate cyclase type 3 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC012073
  3. NM_001377129.1NP_001364058.1  adenylate cyclase type 3 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC012073
  4. NM_001377130.1NP_001364059.1  adenylate cyclase type 3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC012073
  5. NM_001377131.1NP_001364060.1  adenylate cyclase type 3 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC012073
  6. NM_001377132.1NP_001364061.1  adenylate cyclase type 3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC012073
    Related
    ENSP00000260600.5, ENST00000260600.9
  7. NM_004036.5NP_004027.2  adenylate cyclase type 3 isoform 2

    See identical proteins and their annotated locations for NP_004027.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
    Source sequence(s)
    AC012073, BC020148, BC126235, BM148122, HY136273
    Consensus CDS
    CCDS1715.1
    UniProtKB/Swiss-Prot
    O60266
    Conserved Domains (2) summary
    pfam00211
    Location:9141121
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    24819169..24920237 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003187.1XP_016858676.1  adenylate cyclase type 3 isoform X6

  2. XM_011532491.1XP_011530793.1  adenylate cyclase type 3 isoform X5

    Conserved Domains (3) summary
    smart00044
    Location:9031121
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:9341141
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  3. XM_011532494.1XP_011530796.1  adenylate cyclase type 3 isoform X11

    Conserved Domains (3) summary
    smart00044
    Location:8591077
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:8901097
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  4. XM_006711925.1XP_006711988.1  adenylate cyclase type 3 isoform X3

    Conserved Domains (3) summary
    smart00044
    Location:9061124
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:9371144
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  5. XM_017003189.1XP_016858678.1  adenylate cyclase type 3 isoform X10

  6. XM_011532493.1XP_011530795.1  adenylate cyclase type 3 isoform X9

    Conserved Domains (3) summary
    smart00044
    Location:8791097
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:9101117
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  7. XM_011532490.1XP_011530792.1  adenylate cyclase type 3 isoform X2

    Conserved Domains (3) summary
    smart00044
    Location:9241142
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:9551162
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  8. XM_017003188.1XP_016858677.1  adenylate cyclase type 3 isoform X8

  9. XM_011532489.1XP_011530791.1  adenylate cyclase type 3 isoform X1

    Conserved Domains (3) summary
    smart00044
    Location:9251143
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:9561163
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  10. XM_011532492.2XP_011530794.1  adenylate cyclase type 3 isoform X7

    Conserved Domains (3) summary
    smart00044
    Location:9251126
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:310516
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  11. XM_017003191.1XP_016858680.1  adenylate cyclase type 3 isoform X13

  12. XM_017003192.1XP_016858681.1  adenylate cyclase type 3 isoform X15

  13. XM_011532496.1XP_011530798.1  adenylate cyclase type 3 isoform X14

    Related
    ENSP00000475652.1, ENST00000606682.5
    Conserved Domains (3) summary
    smart00044
    Location:684902
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:715922
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:262
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
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