The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]

  • Negative regulation of transcription by RNA polymerase II
  • Regulation of transcription by RNA polymerase II
  • Positive regulation of neuron projection development
  • Regulation of lipid metabolic process
  • Cellular response to drug

  • Familial isolated dilated cardiomyopathy
  • Dilated cardiomyopathy
  • Pulmonary venous return anomaly
  • Total anomalous pulmonary venous return 1
  • Diastolic heart failure

  • General Cardiomyopathy
  • Hypertrophic Cardiomyopathy
  • Dilated Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

ANKRD1 (ankyrin repeat domain 1) – BioGPS

Interacting Proteins for ANKRD1 Gene – String

ANKRD1 Localizations – Subcellular Localization Databas

Gene Location

HM-VUS Prevalence

 % 0.0510725229826353

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants

G=0.000076(19/251082,GnomAD_exome)
G=0.000454(57/125568,TOPMED)
G=0.000091(11/121118,ExAC)
G=0.00001(1/85978,ALFAProject)
G=0.00047(37/78700,PAGE_STUDY)
G=0.00041(13/31396,GnomAD)
G=0.00015(2/13006,GO-ESP)
G=0.0006(3/5008,1000G)
A=0.5(1/2,Siberian)
G=0.5(1/2,Siberian)