Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

ANKRD1

contributors: mct - updated : 31-08-2018

HGNC name	ankyrin repeat domain 1 (cardiac muscle)
HGNC id	15819

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10q23.31      Physical location : 92.671.856 - 92.681.032
Synonym name	cardiac ankyrin repeat protein
	cytokine inducible nuclear protein
	cytokine-inducible gene C-193 protein
Synonym symbol(s)	C-193, ALRP, CARP, CVARP, MCARP

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	9.10 kb     9 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	multiple ATTTA sequences are found in the 3'UTR and are implicated in the rapid turn-over of the mRNA can exist in multiple isoforms (ANKRD1i8, intron 8 retained, and ANKRD1i7-8) which may contribute to the functional diversity of ANKRD1 in heart development and disease (Torrado 2009)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014391 9 - 1994 NP_055206 36.2 319 - 2002 12054667

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       predominantly Homo sapiens   vessels         Digestive liver

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   predominantly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a nuclear localisation signal KKRKK (NLS)
	four tandem repeats of ankyrin-like sequence
	multiples consensus protein phosphorylation sites (both tyrosine and serine-threonine types)

HOMOLOGY

interspecies	homolog to murine Ankrd1 (90.3pc)
	homolog to rattus Ankrd1 (90.9pc)

Homologene

FAMILY

muscle ankyrin repeat protein family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
text	muscle specific protein

basic FUNCTION	may play an important role in endothelial cell activation
	negative regulator of cardiac gene expression, playing a role in the pathogenesis of heart failure
	is involved in inhibition of vascular lesion formation (de Waard 2003)
	stress-inducible myofibrillar protein (Torrado 2009)
	its induction seems to be correlated with apoptotic cell death in hepatoma cells
	it is probable that ANKRD1 has a role in the propagation of signals initiated by myogenic regulatory factors (MRFs) during myogenesis
	involved in a mechano-signaling pathway that links myofibrillar stress response to muscle gene expression
	has a significant role in the regulation of apoptosis in human ovarian cancer cells
	anti-inflammatory role of ANKRD1 through feedback inhibition of NFKB1 transcriptional activity by which ANKRD1 modulates the balance between physiological and pathological inflammatory responses in skeletal muscle
	nuclear transcriptional co-factor that has additional functions in the myoplasm as a component of the muscle sarcomere
	involved in transcriptional regulation and myofibrillar assembly
	cardiac-specific stress-response protein that is functionally pleiotropic, playing pivotal roles in transcriptional regulation, sarcomere assembly and mechano-sensing in the heart
	is a tumor-suppressive downstream target of the Hippo pathway that is epigenetically silenced in human cancer

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	interacting with YBX1, TTN/titin
	novel role for ANKRD as a transcriptional co-activator, moderately up regulating TP53 activity
	link between desmin and ANKRD1 regulation, which may be important for ASMC (airway smooth muscle cells) homeostasis
	in association with factors such as nucleolin, represses likely MMP13 transcription
	ANKRD1 is a MAPK7-dependent and ERK1/2-independent gene
	can protect against H/R induced cardiomyocyte apoptosis, possibly through increasing anti-apoptosis BCL2 gene expression
	YAP1 is protective against VSMC apoptosis induced by ER stress through inhibiting CASP8/3 activation mediated in part by upregulation of ANKRD1
	ANKRD1 is a YAP1 target gene that is induced by RASSF1
	ANKRD1 is involved in IRF3-mediated antiviral innate immune signaling pathways

cell & other

REGULATION

induced by

IL1, TNF-alpha and parthenolide

Other	short-lived protein whose levels are tightly reguated by 26S proteasome (Badi 2009)
	testosterone regulates the expression of ANKRD1 and ANKRD2

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         is expressed in the majority of ovarian adenocarcinomas and higher tumor levels of ANKRD1 are found in patients with worse outcome (Scutt 2008) constitutional     --over   up-regulated in some muscle diseases including muscular dystrophy and myopathy (Matsuura 2007) constitutional     --over   tended to be induced in cases exhibiting nephrotic syndrome, and may be correlated with the severity of proteinuria in lupus nephritis (Matsuura 2007) constitutional     --over   exacerbates pathological cardiac dysfunction through enhancement of cardiomyocyte apoptosis mediated by the up-regulation of TP53

Susceptibility

Variant & Polymorphism

Candidate gene	for total anomalous pulmonary venous return (TAPVR2)
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive ovary potential molecular target to enhance sensitivity of ovarian cancer to chemotherapy cardiovascular cardiomyopathy   is an anti-hypertrophic factor in therapy of cardiac hypertrophy

ANIMAL & CELL MODELS