ANKRD1 ankyrin repeat domain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKRD1provided by HGNC
Official Full Name: ankyrin repeat domain 1provided by HGNC
Primary source: HGNC:HGNC:15819
See related: Ensembl:ENSG00000148677 MIM:609599; AllianceGenome:HGNC:15819
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALRP; CARP; C-193; CVARP; MCARP; bA320F15.2
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]
Expression: Restricted expression toward heart (RPKM 2170.6) See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (90912096..90921087, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (91795773..91804766, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (92671853..92680844, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pan-cancer integrated analysis of ANKRD1 expression, prognostic value, and potential implications in cancer.
Title: Pan-cancer integrated analysis of ANKRD1 expression, prognostic value, and potential implications in cancer.
ANKRD1 is a mesenchymal-specific driver of cancer-associated fibroblast activation bridging androgen receptor loss to AP-1 activation.
Title: ANKRD1 is a mesenchymal-specific driver of cancer-associated fibroblast activation bridging androgen receptor loss to AP-1 activation.
Ferroptosis in calcium oxalate kidney stone formation and the possible regulatory mechanism of ANKRD1.
Title: Ferroptosis in calcium oxalate kidney stone formation and the possible regulatory mechanism of ANKRD1.
LncRNA RGMB-AS1 up-regulates ANKRD1 Through Competitively Sponging miR-3614-5p to Promote OSA Cell Proliferation and Invasion.
Title: LncRNA RGMB-AS1 up-regulates ANKRD1 Through Competitively Sponging miR-3614-5p to Promote OSA Cell Proliferation and Invasion.
ANKRD1 and SPP1 as diagnostic markers and correlated with immune infiltration in biliary atresia.
Title: ANKRD1 and SPP1 as diagnostic markers and correlated with immune infiltration in biliary atresia.
Muscle ankyrin repeat protein 1 (MARP1) locks titin to the sarcomeric thin filament and is a passive force regulator.
Title: Muscle ankyrin repeat protein 1 (MARP1) locks titin to the sarcomeric thin filament and is a passive force regulator.
Molecular Characterisation of Titin N2A and Its Binding of CARP Reveals a Titin/Actin Cross-linking Mechanism.
Title: Molecular Characterisation of Titin N2A and Its Binding of CARP Reveals a Titin/Actin Cross-linking Mechanism.
Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunction.
Title: Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunction.
Data show that RREB1-induced upregulation of AGAP2-AS1 regulates cell proliferation and migration in PC partly through suppressing ANKRD1 and ANGPTL4 by recruiting EZH2.
Title: RREB1-induced upregulation of the lncRNA AGAP2-AS1 regulates the proliferation and migration of pancreatic cancer partly through suppressing ANKRD1 and ANGPTL4.
To identify the p.S187F mutant of ANKRD1, which is associated with cardiac septal defects.
Title: Ankyrin repeat domain 1: A novel gene for cardiac septal defects.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
ANKRD1-related dilated cardiomyopathy MedGen: CN119551 GeneReviews: Not available	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ankyrin repeat domain 1 (ANKRD1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of ankyrin repeat domain 1 (ANKRD1) in human B cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ANKRD1_9516 (e-PCR)
- UniSTS:468279

STS-X83703 (e-PCR)
- UniSTS:29025

Ankrd1 (e-PCR), detects polymorphism
- UniSTS:531324

SHGC-35401 (e-PCR)
- UniSTS:52873

RH98636 (e-PCR)
- UniSTS:92563

ANKRD1-1 (e-PCR)
- UniSTS:509947

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables R-SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables p53 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables titin binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription corepressor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to interleukin-1	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to mechanical stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to tumor necrosis factor	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein kinase C signaling	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to muscle stretch	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sarcomere organization	NAS Non-traceable Author Statement more info	PubMed
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in I band	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ankyrin repeat domain-containing protein 1

Names: 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 domain 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023227.1 RefSeqGene

Range

5001..14176

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_379

mRNA and Protein(s)

NM_014391.3 → NP_055206.2 ankyrin repeat domain-containing protein 1

See identical proteins and their annotated locations for NP_055206.2

Status: REVIEWED

Source sequence(s)

AL590622, BC018667, X83703

Consensus CDS

CCDS7412.1

UniProtKB/Swiss-Prot

Q15327, Q96LE7

UniProtKB/TrEMBL

A0A384NYH5, A8K4J5

Related

ENSP00000360762.3, ENST00000371697.4

Conserved Domains (3) summary

cd00204
Location:147 → 272

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:188 → 216

ANK; ANK repeat [structural motif]

pfam13637
Location:252 → 297

Ank_4; Ankyrin repeats (many copies)