Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	27063
Gene name Gene Name - the full gene name approved by the HGNC.	Ankyrin repeat domain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ANKRD1
Synonyms (NCBI Gene) Gene synonyms aliases	ALRP, C-193, CARP, CVARP, MCARP, bA320F15.2
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q23.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35550482	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign	Missense variant, coding sequence variant
rs150266349	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150797476	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs183061595	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201398260	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs786205461	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs794728971	AA>-	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs794728975	G>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019931	hsa-miR-375	Microarray	20215506
MIRT025157	hsa-miR-181a-5p	Microarray	17612493
MIRT1545360	hsa-miR-127-5p	CLIP-seq
MIRT1545361	hsa-miR-1293	CLIP-seq
MIRT1545362	hsa-miR-300	CLIP-seq
MIRT1545363	hsa-miR-3115	CLIP-seq
MIRT1545364	hsa-miR-3646	CLIP-seq
MIRT1545365	hsa-miR-381	CLIP-seq
MIRT1545366	hsa-miR-4483	CLIP-seq
MIRT1545367	hsa-miR-4666-3p	CLIP-seq
MIRT1545368	hsa-miR-4747-5p	CLIP-seq
MIRT1545369	hsa-miR-4766-5p	CLIP-seq
MIRT1545370	hsa-miR-760	CLIP-seq
MIRT1555920	hsa-miR-10a	CLIP-seq
MIRT1555921	hsa-miR-10b	CLIP-seq
MIRT1555922	hsa-miR-1914	CLIP-seq
MIRT1545362	hsa-miR-300	CLIP-seq
MIRT1555923	hsa-miR-338-5p	CLIP-seq
MIRT1555924	hsa-miR-33a	CLIP-seq
MIRT1555925	hsa-miR-33b	CLIP-seq
MIRT1545364	hsa-miR-3646	CLIP-seq
MIRT1555926	hsa-miR-3667-3p	CLIP-seq
MIRT1545365	hsa-miR-381	CLIP-seq
MIRT1545367	hsa-miR-4666-3p	CLIP-seq
MIRT1555927	hsa-miR-4729	CLIP-seq
MIRT1555928	hsa-miR-4789-5p	CLIP-seq
MIRT1555929	hsa-miR-5096	CLIP-seq
MIRT1555930	hsa-miR-544	CLIP-seq
MIRT1555931	hsa-miR-582-5p	CLIP-seq
MIRT2384170	hsa-miR-1208	CLIP-seq
MIRT2384171	hsa-miR-1225-5p	CLIP-seq
MIRT2384172	hsa-miR-1236	CLIP-seq
MIRT2384173	hsa-miR-135a	CLIP-seq
MIRT2384174	hsa-miR-135b	CLIP-seq
MIRT2384175	hsa-miR-2117	CLIP-seq
MIRT2384176	hsa-miR-27a	CLIP-seq
MIRT2384177	hsa-miR-27b	CLIP-seq
MIRT2384178	hsa-miR-299-5p	CLIP-seq
MIRT1555924	hsa-miR-33a	CLIP-seq
MIRT1555925	hsa-miR-33b	CLIP-seq
MIRT2384179	hsa-miR-3545-3p	CLIP-seq
MIRT2384180	hsa-miR-3614-5p	CLIP-seq
MIRT2384181	hsa-miR-3622a-3p	CLIP-seq
MIRT2384182	hsa-miR-3622a-5p	CLIP-seq
MIRT2384183	hsa-miR-3622b-3p	CLIP-seq
MIRT2384184	hsa-miR-3653	CLIP-seq
MIRT2384185	hsa-miR-3658	CLIP-seq
MIRT2384186	hsa-miR-412	CLIP-seq
MIRT2384187	hsa-miR-4420	CLIP-seq
MIRT2384188	hsa-miR-4423-3p	CLIP-seq
MIRT2384189	hsa-miR-4511	CLIP-seq
MIRT2384190	hsa-miR-4753-3p	CLIP-seq
MIRT2384191	hsa-miR-4757-3p	CLIP-seq
MIRT1555929	hsa-miR-5096	CLIP-seq
MIRT2384192	hsa-miR-513a-5p	CLIP-seq
MIRT2384193	hsa-miR-548b-3p	CLIP-seq
MIRT1555931	hsa-miR-582-5p	CLIP-seq
MIRT2675014	hsa-miR-4509	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
DDIT3	Repression	19299913
TP53	Unknown	20599664

Show/Hide all(41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001085	Function	RNA polymerase II transcription factor binding	IPI	20599664
GO:0001650	Component	Fibrillar center	IDA
GO:0002039	Function	P53 binding	IPI	20599664
GO:0003677	Function	DNA binding	IDA	7730328
GO:0003713	Function	Transcription coactivator activity	IDA	20599664
GO:0003714	Function	Transcription corepressor activity	TAS	20599664
GO:0005515	Function	Protein binding	IPI	11309420, 19608030, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	7730328, 12054667, 19608030
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	12054667, 17239933
GO:0005829	Component	Cytosol	IDA	19608030
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0019216	Process	Regulation of lipid metabolic process	TAS
GO:0031432	Function	Titin binding	IPI	14583192
GO:0031674	Component	I band	ISS	19525294
GO:0035690	Process	Cellular response to drug	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0035994	Process	Response to muscle stretch	IMP	19608030
GO:0042826	Function	Histone deacetylase binding	IPI	20599664
GO:0043065	Process	Positive regulation of apoptotic process	IMP	15805281
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA	20599664
GO:0045214	Process	Sarcomere organization	NAS	11309420
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IEA
GO:0050714	Process	Positive regulation of protein secretion	IMP	17239933
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IMP	19525294, 19608030
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IBA	21873635
GO:0070412	Function	R-SMAD binding	IPI	20599664
GO:0070528	Process	Protein kinase C signaling	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IDA	7730328
GO:0071260	Process	Cellular response to mechanical stimulus	IDA	17239933
GO:0071347	Process	Cellular response to interleukin-1	IDA	7730328
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	7730328
GO:0071407	Process	Cellular response to organic cyclic compound	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	11139470
GO:2000279	Process	Negative regulation of DNA biosynthetic process	IMP	11139470

MIM	HGNC	e!Ensembl
609599	15819	ENSG00000148677

Protein

UniProt ID

Q15327

Protein name

Ankyrin repeat domain-containing protein 1 (Cardiac ankyrin repeat protein) (Cytokine-inducible gene C-193 protein) (Cytokine-inducible nuclear protein)

Protein function

May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells. {ECO:00

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	124 → 216	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	181 → 249	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	218 → 282	Ankyrin repeats (3 copies)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells. {ECO:0000269|PubMed:15805281, ECO:0000269|PubMed:7730328}.

Sequence

MMVLKVEELVTGKKNGNGEAGEFLPEDFRDGEYEAAVTLEKQEDLKTLLAHPVTLGEQQW
KSEKQREAELKKKKLEQRSKLENLEDLEIIIQLKKRKKYRKTKVPVVKEPEPEIITEPVD
VPTFLKAALENKLPVVEKFLSDKNNPDVCDEYKRTALHRACLEGHLAIVEKLMEAGAQIE
FRDMLESTAIHWASRGGNLDVLKLLLNKGAKISARDKLLSTALHVAVRTGHYECAEHLIA
CEADLNAKDREGDTPLHDAVRLNRYKMIRLLIMYGADLNIKNCAGKTPMDLVLHWQNGTK
AIFDSLRENSYKTSRIATF

Sequence length

319

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		PPARA activates gene expression

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Cardiomyopathy	Cardiomyopathy, Dilated, Familial dilated cardiomyopathy, Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377 View all (900 more)	19525294
Dilated cardiomyopathy	Familial isolated dilated cardiomyopathy	rs267607003, rs267607001, rs267607002, rs267607004, rs119463990, rs587777748, rs119463991, rs119463993, rs119464997, rs267606814, rs121908334, rs121909304, rs1369919728, rs121909295, rs121909297 View all (396 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377 View all (752 more)	23572067, 25613900, 19608031
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951 View all (10 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Endometriosis	Endometriosis	20864642	ClinVar
Dilated Cardiomyopathy	familial isolated dilated cardiomyopathy		GenCC

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text Mining
Arrhythmogenic Right Ventricular Dysplasia	Associate	19359327
Biliary Atresia	Associate	34918678
Bipolar Disorder	Associate	33168801
Bone Diseases Metabolic	Associate	35575247
Carcinoma Non Small Cell Lung	Associate	30291293
Carcinoma Renal Cell	Associate	35140327, 40362467
Cardiomyopathies	Stimulate	24709777
Cardiomyopathies	Associate	32344918, 34338756, 40362467
Cardiomyopathy Dilated	Stimulate	19359327, 24709777
Cardiomyopathy Dilated	Associate	19608030, 22892539, 25961010
Cardiomyopathy Hypertrophic	Associate	32344918
Cholestasis Intrahepatic	Associate	34918678
Composite Lymphoma	Associate	27980262
Depressive Disorder	Associate	25961010
Failed Back Surgery Syndrome	Associate	19359327
Ganglioneuroblastoma	Associate	27980262
Heart Defects Congenital	Associate	19589340
Heart Diseases	Associate	25961010
Heart Failure	Associate	19359327, 25961010
Inflammation	Associate	29371118
Kaposi Varicelliform Eruption	Associate	29371118
Kidney Calculi	Associate	36907445
Lung Diseases	Associate	38310103
Lung Neoplasms	Associate	30291293
Neoplasms	Associate	27980262, 30291293, 38310103
Pulmonary Disease Chronic Obstructive	Associate	30111857
Skin Neoplasms	Associate	38310103
Squamous Cell Carcinoma of Head and Neck	Associate	38310103
Thyroid Carcinoma Anaplastic	Associate	35397626
Uterine Cervicitis	Associate	38310103
Ventricular Remodeling	Associate	25961010

ANKRD1 (ankyrin repeat domain 1)