CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) [Homo sapiens] - Gene

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Summary

Official Symbol: CSRP3provided by HGNC
Official Full Name: cysteine and glycine-rich protein 3 (cardiac LIM protein)provided by HGNC
Primary source: HGNC:2472
See related: Ensembl:ENSG00000129170; HPRD:07525; MIM:600824; Vega:OTTHUMG00000166100
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: CLP; MLP; CRP3; LMO4; CMD1M; CMH12; MGC14488; MGC61993
Summary: This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 11p15.1

Sequence :: Chromosome: 11; NC_000011.9 (19203578..19223589, complement)

See CSRP3 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of genetic testing. (HuGE Navigator)
Title: A novel custom resequencing array for dilated cardiomyopathy.
MLP binds directly to CFL2 in human cardiac and skeletal muscles.
Title: Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle.
CRP3/MLP is primarily expressed in arterial smooth muscle cells and that stretch is the main stimulus for CRP3/MLP induction in veins exposed to arterial haemodynamic conditions.
Title: Induction of CRP3/MLP expression during vein arterialization is dependent on stretch rather than shear stress.
Complete chemical shift assignment was achieved for the first LIM domain and for most of the second domain, the N-terminal and C-terminal linker and part of the intervening linker.
Title: 1H, 13C, and 15N assignment of the muscular LIM protein MLP/CRP3.
CSRP3 mutation was found involved in hypertrophic cardiomyopathy.
Title: Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.
The structure of both LIM domains of human MLP by nuclear magnetic resonance spectroscopy.
Title: Structure and dynamics of the human muscle LIM protein.
Study used linkage analysis and identified a CSRP3 missense mutation in a large German family affected by hypertrophic cardiomyopathy.
Title: Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Common susceptibility variants examined for association with dilated cardiomyopathy.
A myocardial actin-binding protein that increases actin cytoskeleton stability by promoting bundling of actin filaments.
Title: hhLIM is a novel F-actin binding protein involved in actin cytoskeleton remodeling.

Submit: New GeneRIF Correction See all (13)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Cardiomyopathy, familial hypertrophic, 12

MIM: 612124

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Products	Interactant	Other Gene	Source	Pubs	Description
P50461	P12814	ACTN1	HPRD	PubMed
P50461	Q86WU2	LDHD	HPRD	PubMed
P50461	P23409	MYF6	HPRD	PubMed
P50461	P15172	MYOD1	HPRD	PubMed
P50461	P15173	MYOG	HPRD	PubMed
P50461	Q02575	NHLH1	HPRD	PubMed
P50461	P11277	SPTB	HPRD	PubMed
BioGRID:113736	BioGRID:115106	HDAC4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:113736	BioGRID:128242	LDHD	BioGRID	PubMed	Reconstituted Complex
BioGRID:113736	BioGRID:110703	MYF6	BioGRID	PubMed	Reconstituted Complex
BioGRID:113736	BioGRID:110737	MYOD1	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Enhancement; Reconstituted Complex; Two-hybrid
BioGRID:113736	BioGRID:110739	MYOG	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
blood vessel remodeling	IEA Inferred from Electronic Annotation more info
cardiac muscle tissue development	IEA Inferred from Electronic Annotation more info
cell differentiation	IEA Inferred from Electronic Annotation more info
cellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
muscle organ development	IEA Inferred from Electronic Annotation more info
regulation of the force of heart contraction	IEA Inferred from Electronic Annotation more info
skeletal muscle tissue development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
Z disc	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: cysteine and glycine-rich protein 3

Names: cysteine and glycine-rich protein 3; LIM domain only 4; muscle LIM protein; cardiac LIM domain protein; LIM domain protein, cardiac

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NCBI Reference Sequences (RefSeq)

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_011932.1 RefSeqGene

Range

8054..28065

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001127656.1 → NP_001121128.1 cysteine and glycine-rich protein 3

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternatively spliced and an additional 5' non-coding exon, therefore, has a different 5' UTR compared to variant 1. Transcript variants 1 and 2 encode the same protein.

Source sequence(s)

AJ711422, BC005900, BC057221, U49837

Consensus CDS

CCDS7848.1

UniProtKB/TrEMBL

A2TDB8

UniProtKB/Swiss-Prot

P50461

Conserved Domains (2) summary

cd09481
Location:9 – 62
Blast Score: 247

LIM1_CRP3; The first LIM domain of Cysteine Rich Protein 3 (CRP3/MLP)

cd09482
Location:120 – 173
Blast Score: 251

LIM2_CRP3; The second LIM domain of Cysteine Rich Protein 3 (CRP3/MLP)
NM_003476.3 → NP_003467.1 cysteine and glycine-rich protein 3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Transcript variants 1 and 2 encode the same protein.

Source sequence(s)

AJ711422, BC005900, BC024010, U49837

Consensus CDS

CCDS7848.1

UniProtKB/TrEMBL

A2TDB8

UniProtKB/Swiss-Prot

P50461

Related

ENSP00000265968, ENST00000265968

Conserved Domains (2) summary

cd09481
Location:9 – 62
Blast Score: 247

LIM1_CRP3; The first LIM domain of Cysteine Rich Protein 3 (CRP3/MLP)

cd09482
Location:120 – 173
Blast Score: 251

LIM2_CRP3; The second LIM domain of Cysteine Rich Protein 3 (CRP3/MLP)

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

19203578..19223589, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

18887549..18907527, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009652.14 (106305..126328)	None
genomic	CH471064.2	EAW68355.1
		EAW68356.1
genomic	EF179182.1	ABN05285.1
genomic	U72898.1	AAD00189.1
mRNA	AF121260.1	AAF28868.1
mRNA	AI184002.1	None
mRNA	AJ711422.1	None
mRNA	AK313289.1	BAG36097.1
mRNA	BC005900.2	AAH05900.1
mRNA	BC024010.1	AAH24010.1
mRNA	BC057221.1	AAH57221.1
mRNA	BF671742.1	None
mRNA	U20324.1	AAA91104.1
mRNA	U49837.1	AAA92571.1
mRNA	U72899.1	AAD00183.1
other-genetic	DQ893125.2	ABM84051.1
other-genetic	DQ896402.2	ABM87401.1