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ADCY3 adenylate cyclase 3 [ Homo sapiens (human) ]

Gene ID: 109, updated on 11-Apr-2024

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; AllianceGenome:HGNC:234
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Location:
2p23.3
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (24819169..24920237, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (24853918..24954979, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (25042038..25143106, 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 ATAC-STARR-seq lymphoblastoid silent region 11234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15435 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25044835-25045378 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25045379-25045923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25048335-25048894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:25048895-25049453 Neighboring gene peptidyl-tRNA hydrolase domain containing 1 Neighboring gene uncharacterized LOC105377626 Neighboring gene Sharpr-MPRA regulatory region 9030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25057468-25058391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25056543-25057467 Neighboring gene centromere protein O Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25097035-25097779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25121605-25122524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25126133-25126634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25126635-25127134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15436 Neighboring gene uncharacterized LOC124907742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:25149032-25149746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15437 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:25180226-25181180 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

EBI GWAS Catalog

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

Clone Names

  • KIAA0511

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables adenylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables adenylate cyclase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in acrosome reaction ISS
Inferred from Sequence or Structural Similarity
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cAMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cAMP biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to forskolin ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in olfactory learning ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sensory perception of smell ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in single fertilization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in ciliary membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA PubMed 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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_016858676.1
XP_016858677.1
XP_016858678.1
XP_016858680.1
XP_047298961.1
XP_047298962.1
XP_047298963.1
XP_047298964.1
XP_047298965.1
XP_047298966.1
XP_047298967.1
XP_047298968.1
XP_047298969.1
XP_047298970.1
XP_047298971.1
XP_047298972.1
XP_054196202.1
XP_054196203.1
XP_054196204.1
XP_054196205.1
XP_054196206.1
XP_054196207.1
XP_054196208.1
XP_054196209.1
XP_054196210.1
XP_054196211.1
XP_054196212.1
XP_054196213.1
XP_054196214.1
XP_054196215.1
XP_054196216.1
XP_054196217.1
XP_054196218.1
XP_054196219.1
XP_054196220.1
XP_054196221.1
XP_054196222.1
XP_054196223.1
XP_054196224.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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/TrEMBL
    A0A0A0MSC1, B7ZLX9
    Related
    ENSP00000384484.2, ENST00000405392.6
    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
    UniProtKB/TrEMBL
    B7ZLX9
    Conserved Domains (2) summary
    pfam00211
    Location:9361143
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  3. NM_001377129.1NP_001364058.1  adenylate cyclase type 3 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC012073
    UniProtKB/TrEMBL
    B3KNM3
    Conserved Domains (2) summary
    pfam00211
    Location:8681075
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  4. NM_001377130.1NP_001364059.1  adenylate cyclase type 3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC012073
    UniProtKB/TrEMBL
    B3KNM3
    Conserved Domains (3) summary
    pfam00211
    Location:310494
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:44303
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
    cl11967
    Location:757900
    Nucleotidyl_cyc_III; Class III nucleotidyl cyclases
  5. NM_001377131.1NP_001364060.1  adenylate cyclase type 3 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC012073
    UniProtKB/TrEMBL
    U3KQ91
    Related
    ENSP00000475652.1, ENST00000606682.5
    Conserved Domains (2) summary
    pfam00211
    Location:673880
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam16214
    Location:262
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  6. NM_001377132.1NP_001364061.1  adenylate cyclase type 3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC012073
    Consensus CDS
    CCDS1715.1
    UniProtKB/Swiss-Prot
    B3KT86, O60266, Q53T54, Q9UDB1
    UniProtKB/TrEMBL
    B7ZLX9
    Related
    ENSP00000260600.5, ENST00000260600.9
    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
  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
    B3KT86, O60266, Q53T54, Q9UDB1
    UniProtKB/TrEMBL
    B7ZLX9
    Related
    ENSP00000505261.1, ENST00000679454.1
    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: 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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047443014.1XP_047298970.1  adenylate cyclase type 3 isoform X20

  2. XM_047443012.1XP_047298968.1  adenylate cyclase type 3 isoform X18

  3. XM_047443009.1XP_047298965.1  adenylate cyclase type 3 isoform X15

  4. XM_047443010.1XP_047298966.1  adenylate cyclase type 3 isoform X16

  5. XM_047443008.1XP_047298964.1  adenylate cyclase type 3 isoform X14

  6. XM_017003187.2XP_016858676.1  adenylate cyclase type 3 isoform X5

    UniProtKB/TrEMBL
    B7ZLX9
  7. XM_011532491.2XP_011530793.1  adenylate cyclase type 3 isoform X4

    UniProtKB/TrEMBL
    B7ZLX9
    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
  8. XM_011532494.2XP_011530796.1  adenylate cyclase type 3 isoform X13

    UniProtKB/TrEMBL
    B3KNM3
    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
  9. XM_047443013.1XP_047298969.1  adenylate cyclase type 3 isoform X19

  10. XM_047443007.1XP_047298963.1  adenylate cyclase type 3 isoform X12

  11. XM_006711925.2XP_006711988.1  adenylate cyclase type 3 isoform X3

    UniProtKB/TrEMBL
    B7ZLX9
    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
  12. XM_047443006.1XP_047298962.1  adenylate cyclase type 3 isoform X11

  13. XM_017003189.2XP_016858678.1  adenylate cyclase type 3 isoform X10

    UniProtKB/TrEMBL
    B3KNM3
  14. XM_047443011.1XP_047298967.1  adenylate cyclase type 3 isoform X17

  15. XM_011532493.2XP_011530795.1  adenylate cyclase type 3 isoform X9

    UniProtKB/TrEMBL
    B3KNM3
    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
  16. XM_011532490.2XP_011530792.1  adenylate cyclase type 3 isoform X2

    UniProtKB/TrEMBL
    B7ZLX9
    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
  17. XM_017003188.2XP_016858677.1  adenylate cyclase type 3 isoform X7

    UniProtKB/TrEMBL
    B7ZLX9
  18. XM_011532489.2XP_011530791.1  adenylate cyclase type 3 isoform X1

    UniProtKB/TrEMBL
    B7ZLX9
    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
  19. XM_011532492.3XP_011530794.1  adenylate cyclase type 3 isoform X6

    UniProtKB/TrEMBL
    B7ZLX9
    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
  20. XM_047443005.1XP_047298961.1  adenylate cyclase type 3 isoform X8

  21. XM_047443016.1XP_047298972.1  adenylate cyclase type 3 isoform X23

  22. XM_017003191.1XP_016858680.1  adenylate cyclase type 3 isoform X21

    UniProtKB/TrEMBL
    U3KQ91
  23. XM_047443015.1XP_047298971.1  adenylate cyclase type 3 isoform X22

RNA

  1. XR_007068865.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    24853918..24954979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340246.1XP_054196221.1  adenylate cyclase type 3 isoform X20

  2. XM_054340244.1XP_054196219.1  adenylate cyclase type 3 isoform X18

  3. XM_054340241.1XP_054196216.1  adenylate cyclase type 3 isoform X15

  4. XM_054340242.1XP_054196217.1  adenylate cyclase type 3 isoform X16

  5. XM_054340240.1XP_054196215.1  adenylate cyclase type 3 isoform X14

  6. XM_054340231.1XP_054196206.1  adenylate cyclase type 3 isoform X5

  7. XM_054340230.1XP_054196205.1  adenylate cyclase type 3 isoform X4

  8. XM_054340239.1XP_054196214.1  adenylate cyclase type 3 isoform X13

  9. XM_054340245.1XP_054196220.1  adenylate cyclase type 3 isoform X19

  10. XM_054340238.1XP_054196213.1  adenylate cyclase type 3 isoform X12

  11. XM_054340229.1XP_054196204.1  adenylate cyclase type 3 isoform X3

  12. XM_054340237.1XP_054196212.1  adenylate cyclase type 3 isoform X11

  13. XM_054340236.1XP_054196211.1  adenylate cyclase type 3 isoform X10

  14. XM_054340243.1XP_054196218.1  adenylate cyclase type 3 isoform X17

  15. XM_054340235.1XP_054196210.1  adenylate cyclase type 3 isoform X9

  16. XM_054340228.1XP_054196203.1  adenylate cyclase type 3 isoform X2

  17. XM_054340233.1XP_054196208.1  adenylate cyclase type 3 isoform X7

  18. XM_054340227.1XP_054196202.1  adenylate cyclase type 3 isoform X1

  19. XM_054340232.1XP_054196207.1  adenylate cyclase type 3 isoform X6

  20. XM_054340234.1XP_054196209.1  adenylate cyclase type 3 isoform X8

  21. XM_054340249.1XP_054196224.1  adenylate cyclase type 3 isoform X23

  22. XM_054340247.1XP_054196222.1  adenylate cyclase type 3 isoform X21

  23. XM_054340248.1XP_054196223.1  adenylate cyclase type 3 isoform X22

RNA

  1. XR_008486253.1 RNA Sequence