ANKRD1 - ankyrin repeat domain 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27063

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	Verweise	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	Verweise	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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

ANKRD1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P89852	CARP Antibody (YA9196)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00712	ANKRD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19764	Ankrd1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26261	Ankrd1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ANKRD1	NCBI