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ADCY6 adenylate cyclase 6 [ Homo sapiens (human) ]

Gene ID: 112, updated on 1-Aug-2020

Summary

Official Symbol
ADCY6provided by HGNC
Official Full Name
adenylate cyclase 6provided by HGNC
Primary source
HGNC:HGNC:237
See related
Ensembl:ENSG00000174233 MIM:600294
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
AC6; LCCS8
Summary
This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]
Expression
Ubiquitous expression in fat (RPKM 25.0), heart (RPKM 17.1) and 23 other tissues See more
Orthologs

Genomic context

See ADCY6 in Genome Data Viewer
Location:
12q13.12
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (48766194..48789089, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49159975..49182820, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene KAT8 regulatory NSL complex subunit 2 Neighboring gene small nucleolar RNA, H/ACA box 2B Neighboring gene cyclin T1 Neighboring gene testis expressed 49 Neighboring gene microRNA 4701 Neighboring gene ADCY6 divergent transcript Neighboring gene chromosome 20 open reading frame 27 pseudogene

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
Lethal congenital contracture syndrome 8
MedGen: C4225385 OMIM: 616287 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
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

  • KIAA0422, DKFZp779F075

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 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase C binding IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding ISS
Inferred from Sequence or Structural Similarity
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
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to catecholamine stimulus IDA
Inferred from Direct Assay
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
 
cellular response to prostaglandin E stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to vasopressin ISS
Inferred from Sequence or Structural Similarity
more info
 
dopamine receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of urine volume ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of blood vessel diameter IMP
Inferred from Mutant Phenotype
more info
PubMed 
renal water homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
renal water homeostasis TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cilium IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
stereocilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
adenylate cyclase type 6
Names
ATP pyrophosphate-lyase 6
adenylate cyclase type VI
ca(2+)-inhibitable adenylyl cyclase
NP_056085.1
XP_006719273.1
XP_016874232.1

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_042166.1 RefSeqGene

    Range
    5008..27903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015270.5NP_056085.1  adenylate cyclase type 6

    See identical proteins and their annotated locations for NP_056085.1

    Status: REVIEWED

    Source sequence(s)
    AC117498, AF250226, BC064923
    Consensus CDS
    CCDS8767.1
    UniProtKB/Swiss-Prot
    O43306
    Related
    ENSP00000311405.4, ENST00000307885.4
    Conserved Domains (5) summary
    smart00044
    Location:334529
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:9701164
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam06327
    Location:582668
    DUF1053; Domain of Unknown Function (DUF1053)
    pfam13908
    Location:689739
    Shisa; Wnt and FGF inhibitory regulator
    pfam16214
    Location:16368
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    48766194..48789089 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018743.1XP_016874232.1  adenylate cyclase type 6 isoform X2

    Conserved Domains (4) summary
    smart00044
    Location:334529
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:8691063
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam06327
    Location:582661
    DUF1053; Domain of Unknown Function (DUF1053)
    pfam16214
    Location:16368
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region
  2. XM_006719210.4XP_006719273.1  adenylate cyclase type 6 isoform X1

    See identical proteins and their annotated locations for XP_006719273.1

    UniProtKB/Swiss-Prot
    O43306
    Conserved Domains (5) summary
    smart00044
    Location:334529
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:9701164
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam06327
    Location:582668
    DUF1053; Domain of Unknown Function (DUF1053)
    pfam13908
    Location:689739
    Shisa; Wnt and FGF inhibitory regulator
    pfam16214
    Location:16368
    AC_N; Adenylyl cyclase N-terminal extracellular and transmembrane region

RNA

  1. XR_001748565.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_020983.2: Suppressed sequence

    Description
    NM_020983.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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