CSRP3
Cysteine and glycine-rich protein 3
Also known as: CLP, CMD1M, CSRP3_HUMAN, MLP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P50461
- Gene
- CSRP3
- Ensembl
- ENSG00000129170
- Chromosome
- 11
- Canonical length
- 194 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homooligomer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
194 residues, UniProt reviewed canonical sequence.
>P50461|CSRP3
1 MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCMAC RKALDSTTVA AHESEIYCKV
61 CYGRRYGPKG IGYGQGAGCL STDTGEHLGL QFQQSPKPAR SVTTSNPSKF TAKFGESEKC
121 PRCGKSVYAA EKVMGGGKPW HKTCFRCAIC GKSLESTNVT DKDGELYCKV CYAKNFGPTG
181 IGFGGLTQQV EKKELocalizationUniProt · AlphaFold · HPA
Whether an antibody against CSRP3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.48
- Highest tissue expression
- 2,448 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 2,448 nTPM
- skeletal muscle: 1,546 nTPM
- tongue: 540 nTPM
- esophagus: 37 nTPM
- prostate: 31 nTPM
- salivary gland: 30 nTPM
Single-cell type
- cardiomyocytes: 328 nCPM
- myonuclei: 238 nCPM
- thymic myoid cells: 110 nCPM
- epicardial cells: 25 nCPM
- respiratory ciliated cells: 12 nCPM
- myosatellite cells: 9.4 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 2 nTPM
- white matter: 1.7 nTPM
- basal ganglia: 1.5 nTPM
- cerebral cortex: 1.5 nTPM
- hypothalamus: 1.5 nTPM
- pons: 1.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CSRP3.
Disease | AllUniProt
Conditions CSRP3 is implicated in, by any mechanism.
- Cardiomyopathy, dilated, 1M (CMD1M) MIM:607482
- Cardiomyopathy, familial hypertrophic, 12 (CMH12) MIM:612124
Disease | GeneticClinVar
37 pathogenic / likely-pathogenic of 502 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypertrophic cardiomyopathy 12
- Dilated cardiomyopathy 1M
- Cardiovascular phenotype
- Cardiomyopathy
- Primary dilated cardiomyopathy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.31
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.14
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cardiac muscle contraction
- cardiac muscle hypertrophy
- cardiac muscle tissue development
- cardiac myofibril assembly
- detection of muscle stretch
- establishment of protein localization to organelle
- glucose homeostasis
- inflammatory response
- insulin receptor signaling pathway
- intracellular calcium ion homeostasis
- muscle cell cellular homeostasis
- muscle tissue development
- negative regulation of actin filament severing
- negative regulation of myoblast differentiation
- phospholipase C/protein kinase C signal transduction
- positive regulation of myoblast differentiation
- positive regulation of transcription by RNA polymerase II
- regulation of protein localization to plasma membrane
- regulation of the force of heart contraction
- sarcomere organization
- skeletal muscle tissue development
- T-tubule organization
- positive regulation of actin filament severing
Molecular functions
- actin binding
- actinin binding
- identical protein binding
- metal ion binding
- structural constituent of muscle
- telethonin binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CSRP3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CSRP3 as an antibody target. Whether an autoantibody or antibody against CSRP3 could matter depends on whether native CSRP3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CSRP3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CSRP3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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