• Gene id: 27063

Gene Summary

• Gene Symbol: ANKRD1   Gene   UCSC   Ensembl
• Aliases: ALRP, C-193, CARP, CVARP, MCARP, bA320F15.2
• Gene name: ankyrin repeat domain 1
• Alternate names: ankyrin repeat domain-containing protein 1, ankyrin repeat domain 1 (cardiac muscle), cardiac ankyrin repeat protein, cytokine-inducible gene C-193 protein, cytokine-inducible nuclear protein, epididymis secretory sperm binding protein, liver ankyrin repeat dom,
• Gene location: 10q23.31 (90921086: 90912095)     Exons: 9     NC_000010.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q15327  
  • Name: Ankyrin repeat domain containing protein 1 (Cardiac ankyrin repeat protein) (Cytokine inducible gene C 193 protein) (Cytokine inducible nuclear protein)
  • Length: 319  
  • Mass: 36252
  • Tissue specificity: Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells. {ECO
• Sequence:

  MMVLKVEELVTGKKNGNGEAGEFLPEDFRDGEYEAAVTLEKQEDLKTLLAHPVTLGEQQWKSEKQREAELKKKKL
  EQRSKLENLEDLEIIIQLKKRKKYRKTKVPVVKEPEPEIITEPVDVPTFLKAALENKLPVVEKFLSDKNNPDVCD
  EYKRTALHRACLEGHLAIVEKLMEAGAQIEFRDMLESTAIHWASRGGNLDVLKLLLNKGAKISARDKLLSTALHV
  AVRTGHYECAEHLIACEADLNAKDREGDTPLHDAVRLNRYKMIRLLIMYGADLNIKNCAGKTPMDLVLHWQNGTK
  AIFDSLRENSYKTSRIATF

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000360762
• Other Databases: GeneCards:  ANKRD1  Malacards:  ANKRD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0061629	RNA polymerase II-specific DNA-binding transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0070528	protein kinase C signaling	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0031674	I band	IEA	cellular component
GO:0031432	titin binding	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0031674	I band	IEA	cellular component
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0030016	myofibril	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0002039	p53 binding	IPI	molecular function
GO:0031432	titin binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0071222	cellular response to lipopolysaccharide	IDA	biological process
GO:0071356	cellular response to tumor necrosis factor	IDA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IDA	biological process
GO:0031674	I band	ISS	cellular component
GO:0035994	response to muscle stretch	IMP	biological process
GO:0055008	cardiac muscle tissue morphogenesis	IMP	biological process
GO:0055008	cardiac muscle tissue morphogenesis	IMP	biological process
GO:2000279	negative regulation of DNA biosynthetic process	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA	biological process
GO:0071347	cellular response to interleukin-1	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0045214	sarcomere organization	NAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0071260	cellular response to mechanical stimulus	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0050714	positive regulation of protein secretion	IMP	biological process

Diseases

Associated diseases	References
hypertrophic cardiomyopathy	PMID:19608031
Spinal muscular atrophy	PMID:14516314
Cardiomyopathy	PMID:19525294
Nemaline myopathy	PMID:14516314
Congenital structural myopathy	PMID:14516314
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R