ADCY1 (adenylate cyclase 1)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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107 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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Adenylate cyclase 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ADCY1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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AC1, DFNB44 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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DFNB44 |
Chromosome
Chromosome number
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7 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7p12.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple tra |
SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein | |||||||||||||||||||||
UniProt ID | Q08828 | ||||||||||||||||||||
Protein name | Adenylate cyclase type 1 (EC 4.6.1.1) (ATP pyrophosphate-lyase 1) (Adenylate cyclase type I) (Adenylyl cyclase 1) (Ca(2+)/calmodulin-activated adenylyl cyclase) | ||||||||||||||||||||
Protein 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. | ||||||||||||||||||||
Family and domains |
Pfam
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Tissue specificity | TISSUE SPECIFICITY: Detected in zona glomerulosa and zona fasciculata in the adrenal gland (at protein level) (PubMed:11549699). Brain, retina and adrenal medulla. {ECO:0000269|PubMed:11549699, ECO:0000269|PubMed:8314585}. | ||||||||||||||||||||
Sequence | |||||||||||||||||||||
Sequence length | 1119 | ||||||||||||||||||||
Interactions | View interactions |
Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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