ADCY1 - adenylate cyclase 1 Gene

Also Known as AC1; DFNB44

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 107

About ADCY1

Cytogenetic location: 7p12.3 Genomic coordinates (GRCh38): 7:45,574,140-45,723,116 (from NCBI)

This gene has 5 transcripts (splice variants), 294 orthologues, 17 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 14.3), testis (RPKM 1.6) and 7 other tissues.

Summary

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 transcript variants. [provided by RefSeq, Aug 2013]

ADCY1 Products (2)

mRNA Protein Name
NM_001281768.2 NP_001268697.1 adenylate cyclase type 1 isoform 2
NM_021116.4 NP_066939.1 adenylate cyclase type 1 isoform 1
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
11549699 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADCY1 Protein Structure

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (295 - 476)

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (860 - 1055)

  • 0
  • 200
  • 400
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  • 800
  • 1000
  • 1119 a.a.
Protein Preferred Names Protein Names

adenylate cyclase type 1

  • 3',5'-cyclic AMP synthetase

ADCY1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810844 Adenylate Cyclase 1 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 44
  • DFNB44

  • Autosomal Recessive Nonsyndromic Deafness 44

  • Autosomal Recessive Deafness 44

  • Deafness, Autosomal Recessive, 44

  • Deafness, Autosomal Recessive, Type 44

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb
  • Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Cholera
  • Vibrio Cholerae Infection

  • Cholera - Vibrio Cholerae

  • Cholera Due To Vibrio Cholerae

  • Vibrio Cholerae

  • Cholera Syndrome

  • Asiatic Cholera

  • Epidemic Cholera

Intracranial Vasospasm
  • Vasospasm, Intracranial

Portal Hypertension
  • Hypertension, Portal

  • Hypertension Portal

  • Pht - [Portal Hypertension]

  • Portal Htn

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ADCY1 RGD RGD:1309318
Canis familiaris ADCY1 VGNC VGNC:37618
Mus musculus ADCY1 MGD MGI:99677
Felis catus ADCY1 VGNC VGNC:59613
Macaca mulatta ADCY1 VGNC VGNC:69505
Bos taurus ADCY1 VGNC VGNC:25642