ADCY1 |
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)