ANKRD1 - ankyrin repeat domain 1 Gene

Homo sapiens

Also known as ALRP; CARP; C-193; CVARP; MCARP; bA320F15.2

Gene ID: 27063 | Gene type: protein coding

About ANKRD1

Cytogenetic location: 10q23.31 Genomic coordinates (GRCh38): 10:90,912,096-90,921,087 (from NCBI)

This gene has 1 transcript (splice variant), 243 orthologues, 1 paralogue and is associated with 1 phenotype. Restricted expression toward heart (RPKM 2170.6).

Summary

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]

ANKRD1 Products(1)

mRNA	Protein	Name
NM_014391.3	NP_055206.2	ankyrin repeat domain-containing protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	7730328	GOA
enables R-SMAD binding	IPI IPI: Inferred from physical interaction	20599664	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	20599664	GOA
enables histone deacetylase binding	IPI IPI: Inferred from physical interaction	20599664	GOA
enables p53 binding	IPI IPI: Inferred from physical interaction	20599664	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11309420	GOA
enables titin binding	IPI IPI: Inferred from physical interaction	14583192	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	20599664	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cardiac muscle tissue morphogenesis	IMP IMP: Inferred from mutant phenotype	19525294	GOA
involved in cellular response to interleukin-1	IDA IDA: Inferred from direct assay	7730328	GOA
involved in cellular response to lipopolysaccharide	IDA IDA: Inferred from direct assay	7730328	GOA
involved in cellular response to mechanical stimulus	IDA IDA: Inferred from direct assay	17239933	GOA
involved in cellular response to transforming growth factor beta stimulus	IDA IDA: Inferred from direct assay	11139470	GOA
involved in cellular response to tumor necrosis factor	IDA IDA: Inferred from direct assay	7730328	GOA
involved in negative regulation of DNA biosynthetic process	IMP IMP: Inferred from mutant phenotype	11139470	GOA
involved in positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA IDA: Inferred from direct assay	20599664	GOA
involved in positive regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	15805281	GOA
involved in positive regulation of protein secretion	IMP IMP: Inferred from mutant phenotype	17239933	GOA
involved in response to muscle stretch	IMP IMP: Inferred from mutant phenotype	19608030	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	12054667	GOA
located in cytosol	IDA IDA: Inferred from direct assay	19608030	GOA
located in nucleus	IDA IDA: Inferred from direct assay	7730328	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

ANKRD1 Protein Structure

Ank_2

0
100
200
300
319 a.a.

Protein Preferred Names

Protein Names

ankyrin repeat domain-containing protein 1

ankyrin repeat domain 1 (cardiac muscle)

ANKRD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ANKRD1	Q15327	NAGK	Homo sapiens	Q9UJ70-2	Validated Y2H	32296183
Intra	ANKRD1	Q15327	NAGK	Homo sapiens	Q9UJ70-2	Y2H Array	32296183
Intra	ANKRD1	Q15327	NAGK	Homo sapiens	Q9UJ70-2	Y2H Prey Pooling	32296183
Intra	ANKRD1	Q15327	SPANXN2	Homo sapiens	Q5MJ10	Validated Y2H	32296183
Intra	ANKRD1	Q15327	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	ANKRD1	Q15327	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	ANKRD1	Q15327	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	ANKRD1	Q15327	CDCA7L	Homo sapiens	Q96GN5	Validated Y2H	32296183
Intra	ANKRD1	Q15327	MAPRE3	Homo sapiens	Q9UPY8	Validated Y2H	32296183
Intra	ANKRD1	Q15327	ZNF446	Homo sapiens	Q9NWS9-2	Y2H Prey Pooling	32296183
Intra	ANKRD1	Q15327	ZNF446	Homo sapiens	Q9NWS9-2	Validated Y2H	32296183
Intra	ANKRD1	Q15327	ZNF446	Homo sapiens	Q9NWS9-2	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Total Anomalous Pulmonary Venous Return 1

Scimitar Syndrome	Total Anomalous Pulmonary Venous Return
Anomalous Pulmonary Venous Return	Scimitar Anomaly
TAPVR1	Apvr
Halasz Syndrome	Hypogenetic Lung Syndrome
Pulmonary Venolobar Syndrome	TAPVR
Congenital Total Pulmonary Venous Return Anomaly	Congenital Venolobar Syndrome
Mirror-Image Lung Syndrome	Vena Cava Bronchovascular Syndrome
Pulmonary Venous Return Anomaly	Congenital Pulmonary Venolobar Syndrome
Epibronchial Right Pulmonary Vein Syndrome

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Sciatic Neuropathy

Lesion Of Sciatic Nerve

Nerve Lesion Sciatic

Sciatic Neuropathy

Mononeuritis Of Lower Limb

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy	Cardiomyopathy, Restrictive
Cardiomyopathy, Constrictive	Primary Restrictive Cardiomyopathy
Rcm	Cardiomyopathy Restrictive

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Meningioma, Familial

Meningioma	Familial Meningioma
Meningioma, Familial, Susceptibility To	Meningeal Neoplasm
Meningeal Neoplasms	Meningiomas
Meningioma, Nf2-Related, Somatic	Meningioma, Sis-Related
Meningothelial Cell Tumor	Neoplasm Of The Meninges
Primary Meningeal Tumor	Familial Multiple Meningioma
MNGMA	Meningioma, Benign, No Icd-O Subtype
Intracranial Meningioma	Meningothelial Cell Neoplasm
Supratentorial Meningioma	Primary Neoplasm Of Spinal Meninges
Benign Intracranial Meningioma	Benign Meningioma
Meningeal Tumours	Meningeal Sarcoma Of Unspecified Site
Meningothelial Sarcoma Of Unspecified Site

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00712	ANKRD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ANKRD1	RGD	RGD:61989
Bos taurus	ANKRD1	VGNC	VGNC:25908
Canis familiaris	ANKRD1	VGNC	VGNC:37880
Macaca mulatta	ANKRD1	VGNC	VGNC:69616
Mus musculus	ANKRD1	MGD	MGI:1097717
Felis catus	ANKRD1	VGNC	VGNC:97350

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