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

Summary

Official Symbol: CSRP3provided by HGNC
Official Full Name: cysteine and glycine rich protein 3provided by HGNC
Primary source: HGNC:HGNC:2472
See related: Ensembl:ENSG00000129170 MIM:600824; AllianceGenome:HGNC:2472
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
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]
Expression: Restricted expression toward heart (RPKM 715.6) See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (19182030..19201983, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (19302167..19322081, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (19203577..19223530, complement)

Chromosome 11 - NC_000011.10 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 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?

Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy.
Title: Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy.
LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.
Title: LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.
Title: The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
Title: Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
MLP-deficient human embryonic stem cell derived cardiomyocytes recapitulate the pathogenesis of hypertrophic cardiomyopathy.
Title: MLP-deficient human pluripotent stem cell derived cardiomyocytes develop hypertrophic cardiomyopathy and heart failure phenotypes due to abnormal calcium handling.
Previous results along with the newly identified homozygous CSRP3 truncating variants in two unrelated hypertrophic cardiomyopathy (HCM) patients suggest that the association of CSRP3 as a validated HCM-causing gene require additional studies and those CSRP3 variants could result in HCM with an autosomal recessive inheritance rather than with an autosomal dominant transmission as usually reported on HCM.
Title: First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.
MLP contributes to the maintenance of cardiomyocyte cytoarchitecture by a mechanism involving its self-association and actin filament cross-linking.
Title: Human muscle LIM protein dimerizes along the actin cytoskeleton and cross-links actin filaments.
study reports the discovery of an alternative splice variant of muscle lim protein encoded by the CSRP3 gene, designated as MLP-b, showing distinct expression in neuromuscular disease and direct roles in actin dynamics and muscle differentiation
Title: Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation.
KLF5 reverses hhLIM function from anti-proliferation to pro-proliferation through its interaction with hhLIM on the cyclin E promoter.
Title: KLF5 and hhLIM cooperatively promote proliferation of vascular smooth muscle cells.
The CSRP3-W4R mutation causes cardiomyopathy and heart failure in patients and engineered knock-in animals.
Title: A common MLP (muscle LIM protein) variant is associated with cardiomyopathy.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dilated cardiomyopathy 1M MedGen: C1843808 OMIM: 607482 GeneReviews: Dilated Cardiomyopathy Overview	not available
Hypertrophic cardiomyopathy 12 MedGen: C2677491 OMIM: 612124 GeneReviews: Not available	not available
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91852 (e-PCR)
- UniSTS:92171

RH41836 (e-PCR)
- UniSTS:40810

D11S4012 (e-PCR)
- UniSTS:39563

Csrp3 (e-PCR), detects polymorphism
- UniSTS:508565

RH70653 (e-PCR)
- UniSTS:36068

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actinin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actinin binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of muscle	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of muscle	IMP Inferred from Mutant Phenotype more info	PubMed
enables telethonin binding	IDA Inferred from Direct Assay more info	PubMed
enables telethonin binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T-tubule organization	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle hypertrophy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac myofibril assembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in detection of muscle stretch	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in intracellular calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle cell cellular homeostasis	IEA Inferred from Electronic Annotation more info
involved_in muscle tissue development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of actin filament severing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C/protein kinase C signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of actin filament severing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein localization to organelle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization to plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in regulation of the force of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle tissue development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cysteine and glycine-rich protein 3

Names: LIM domain only 4; cardiac LIM domain protein; cysteine and glycine-rich protein 3 (cardiac LIM protein)

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_011932.2 RefSeqGene

Range

5003..33544

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_440

mRNA and Protein(s)

NM_001369404.1 → NP_001356333.1 cysteine and glycine-rich protein 3 isoform 2

Status: REVIEWED

Source sequence(s)

AC009652

Consensus CDS

CCDS91449.1

UniProtKB/TrEMBL

A0A3B3ISZ2

Related

ENSP00000497531.1, ENST00000649842.1

Conserved Domains (1) summary

cl02475
Location:9 → 37

LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
NM_003476.5 → NP_003467.1 cysteine and glycine-rich protein 3 isoform 1

See identical proteins and their annotated locations for NP_003467.1

Status: REVIEWED

Source sequence(s)

AC009652

Consensus CDS

CCDS7848.1

UniProtKB/Swiss-Prot

P50461, Q9P131, S4S7M7

UniProtKB/TrEMBL

A2TDB8

Related

ENSP00000265968.3, ENST00000265968.9

Conserved Domains (2) summary

cd09481
Location:9 → 62

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

cd09482
Location:120 → 173

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