Gene Facts External Data Attribution

HGNC Symbol
ADCY1 (HGNC:232) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
adenylate cyclase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB44
Alias symbols
AC1
%HI
43.08(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.27(Read more about gnomAD LOEUF score)
Cytoband
7p12.3
Genomic Coordinates
GRCh37/hg19: chr7:45613739-45762715 NCBI Ensembl UCSC
GRCh38/hg38: chr7:45574140-45723116 NCBI Ensembl UCSC
MANE Select Transcript
NM_021116.4 ENST00000297323.12 (Read more about MANE Select)
Function
Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (By similarity). May be involved in regulatory processes in the central nervous system. May play a role in memory and learning. Plays a role in the regulation of the circadian rhythm of daytime contrast sensitivity probably by modulating the rhythmic synthesis of cyclic AMP in the retina (By similarity). {ECO:0000250|UniProtKB:O88444, ECO:00... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22456
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)