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Protein

Cysteine and glycine-rich protein 3

Gene

CSRP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Positive regulator of myogenesis. Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation (By similarity).By similarity

GO - Molecular functioni

  1. actinin binding Source: BHF-UCL
  2. structural constituent of muscle Source: BHF-UCL
  3. telethonin binding Source: BHF-UCL
  4. zinc ion binding Source: InterPro

GO - Biological processi

  1. cardiac muscle contraction Source: BHF-UCL
  2. cardiac muscle hypertrophy Source: BHF-UCL
  3. cardiac muscle tissue development Source: BHF-UCL
  4. cardiac myofibril assembly Source: BHF-UCL
  5. cellular calcium ion homeostasis Source: BHF-UCL
  6. detection of muscle stretch Source: BHF-UCL
  7. positive regulation of transcription from RNA polymerase II promoter Source: MGI
  8. protein localization to organelle Source: BHF-UCL
  9. regulation of the force of heart contraction Source: BHF-UCL
  10. skeletal muscle tissue development Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Myogenesis

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Cysteine and glycine-rich protein 3
Alternative name(s):
Cardiac LIM protein
Cysteine-rich protein 3
Short name:
CRP3
LIM domain protein, cardiac
Muscle LIM protein
Gene namesi
Name:CSRP3
Synonyms:CLP, MLP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:2472. CSRP3.

Subcellular locationi

  1. Nucleus Curated
  2. Cytoplasm 1 Publication
  3. Cytoplasmcytoskeleton Curated
  4. CytoplasmmyofibrilsarcomereZ line By similarity

  5. Note: Mainly cytoplasmic (By similarity). In the nucleus it associates with the actin cytoskeleton (Potential). In the Z line, found associated with GLRX3 (By similarity).By similarityCurated

GO - Cellular componenti

  1. cytoskeleton Source: UniProtKB-SubCell
  2. nucleus Source: UniProtKB-SubCell
  3. Z disc Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 1M (CMD1M)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

See also OMIM:607482
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41W → R in CMD1M; there is a similar prevalence of this variant in controls, dilated cardiomyopathy (DCM) and hypetrophic cariomyopathy (HCM) patients, this variant may not be sufficient to cause cardiomyopathy but could act as a conditional modifier, which would explain the unusually low penetrance reported previously; may be a common polymorphism. 2 Publications
Corresponds to variant rs45550635 [ dbSNP | Ensembl ].
VAR_015401
Cardiomyopathy, familial hypertrophic 12 (CMH12)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

See also OMIM:612124
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441L → P in CMH12. 1 Publication
VAR_045932
Natural varianti54 – 552SE → RG in CMH12.
VAR_045933
Natural varianti58 – 581C → G in CMH12. 2 Publications
VAR_045934

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi607482. phenotype.
612124. phenotype.
Orphaneti154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA26971.

Polymorphism and mutation databases

BioMutaiCSRP3.
DMDMi1705933.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 194194Cysteine and glycine-rich protein 3PRO_0000075727Add
BLAST

Proteomic databases

MaxQBiP50461.
PaxDbiP50461.
PeptideAtlasiP50461.
PRIDEiP50461.

PTM databases

PhosphoSiteiP50461.

Expressioni

Tissue specificityi

Cardiac and slow-twitch skeletal muscles.

Gene expression databases

BgeeiP50461.
CleanExiHS_CSRP3.
ExpressionAtlasiP50461. baseline.
GenevestigatoriP50461.

Organism-specific databases

HPAiHPA042581.

Interactioni

Subunit structurei

Interacts with LDHD. Interacts with GLRX3 (via C-terminus).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
S4S7M72EBI-5658719,EBI-9540516
CFL2Q9Y2812EBI-5658719,EBI-351218
TCAPO152733EBI-5658719,EBI-954089

Protein-protein interaction databases

BioGridi113736. 6 interactions.
IntActiP50461. 8 interactions.
STRINGi9606.ENSP00000265968.

Structurei

Secondary structure

1
194
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi14 – 174Combined sources
Helixi19 – 213Combined sources
Beta strandi22 – 254Combined sources
Beta strandi28 – 314Combined sources
Turni32 – 343Combined sources
Beta strandi38 – 403Combined sources
Turni46 – 483Combined sources
Beta strandi50 – 523Combined sources
Beta strandi55 – 573Combined sources
Helixi59 – 657Combined sources
Turni121 – 1244Combined sources
Turni129 – 1313Combined sources
Beta strandi133 – 1353Combined sources
Beta strandi138 – 1403Combined sources
Turni142 – 1443Combined sources
Beta strandi145 – 1473Combined sources
Turni148 – 1514Combined sources
Beta strandi159 – 1624Combined sources
Beta strandi165 – 1684Combined sources
Helixi169 – 1757Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2O10NMR-A7-66[»]
2O13NMR-A119-176[»]
ProteinModelPortaliP50461.
SMRiP50461. Positions 1-178.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP50461.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini10 – 6152LIM zinc-binding 1PROSITE-ProRule annotationAdd
BLAST
Domaini120 – 17152LIM zinc-binding 2PROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi64 – 696Nuclear localization signalSequence Analysis

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi63 – 7816Gly-richAdd
BLAST
Compositional biasi177 – 1859Gly-rich

Sequence similaritiesi

Contains 2 LIM zinc-binding domains.PROSITE-ProRule annotation

Keywords - Domaini

LIM domain, Repeat

Phylogenomic databases

eggNOGiNOG294681.
GeneTreeiENSGT00550000074548.
HOGENOMiHOG000111233.
HOVERGENiHBG051143.
InParanoidiP50461.
KOiK09377.
OMAiQSPKQAR.
OrthoDBiEOG7CK39M.
PhylomeDBiP50461.
TreeFamiTF313758.

Family and domain databases

Gene3Di2.10.110.10. 2 hits.
InterProiIPR001781. Znf_LIM.
[Graphical view]
PfamiPF00412. LIM. 2 hits.
[Graphical view]
SMARTiSM00132. LIM. 2 hits.
[Graphical view]
PROSITEiPS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P50461-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCMAC RKALDSTTVA
60 70 80 90 100
AHESEIYCKV CYGRRYGPKG IGYGQGAGCL STDTGEHLGL QFQQSPKPAR
110 120 130 140 150
SVTTSNPSKF TAKFGESEKC PRCGKSVYAA EKVMGGGKPW HKTCFRCAIC
160 170 180 190
GKSLESTNVT DKDGELYCKV CYAKNFGPTG IGFGGLTQQV EKKE
Length:194
Mass (Da):20,969
Last modified:October 1, 1996 - v1
Checksum:iFDB6E4F8D258C35F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti26 – 261N → H in AAF28868 (Ref. 4) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41W → R in CMD1M; there is a similar prevalence of this variant in controls, dilated cardiomyopathy (DCM) and hypetrophic cariomyopathy (HCM) patients, this variant may not be sufficient to cause cardiomyopathy but could act as a conditional modifier, which would explain the unusually low penetrance reported previously; may be a common polymorphism. 2 Publications
Corresponds to variant rs45550635 [ dbSNP | Ensembl ].
VAR_015401
Natural varianti44 – 441L → P in CMH12. 1 Publication
VAR_045932
Natural varianti54 – 552SE → RG in CMH12.
VAR_045933
Natural varianti58 – 581C → G in CMH12. 2 Publications
VAR_045934

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U20324 mRNA. Translation: AAA91104.1.
U49837 mRNA. Translation: AAA92571.1.
U72898
, U72894, U72895, U72896, U72897 Genomic DNA. Translation: AAD00189.1.
U72899 mRNA. Translation: AAD00183.1.
AF121260 mRNA. Translation: AAF28868.1.
BC005900 mRNA. Translation: AAH05900.1.
BC024010 mRNA. Translation: AAH24010.1.
BC057221 mRNA. Translation: AAH57221.1.
CCDSiCCDS7848.1.
RefSeqiNP_003467.1. NM_003476.4.
UniGeneiHs.83577.

Genome annotation databases

EnsembliENST00000265968; ENSP00000265968; ENSG00000129170.
ENST00000533783; ENSP00000431813; ENSG00000129170.
GeneIDi8048.
KEGGihsa:8048.
UCSCiuc001mpk.3. human.

Polymorphism and mutation databases

BioMutaiCSRP3.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U20324 mRNA. Translation: AAA91104.1.
U49837 mRNA. Translation: AAA92571.1.
U72898
, U72894, U72895, U72896, U72897 Genomic DNA. Translation: AAD00189.1.
U72899 mRNA. Translation: AAD00183.1.
AF121260 mRNA. Translation: AAF28868.1.
BC005900 mRNA. Translation: AAH05900.1.
BC024010 mRNA. Translation: AAH24010.1.
BC057221 mRNA. Translation: AAH57221.1.
CCDSiCCDS7848.1.
RefSeqiNP_003467.1. NM_003476.4.
UniGeneiHs.83577.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2O10NMR-A7-66[»]
2O13NMR-A119-176[»]
ProteinModelPortaliP50461.
SMRiP50461. Positions 1-178.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113736. 6 interactions.
IntActiP50461. 8 interactions.
STRINGi9606.ENSP00000265968.

PTM databases

PhosphoSiteiP50461.

Polymorphism and mutation databases

BioMutaiCSRP3.
DMDMi1705933.

Proteomic databases

MaxQBiP50461.
PaxDbiP50461.
PeptideAtlasiP50461.
PRIDEiP50461.

Protocols and materials databases

DNASUi8048.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265968; ENSP00000265968; ENSG00000129170.
ENST00000533783; ENSP00000431813; ENSG00000129170.
GeneIDi8048.
KEGGihsa:8048.
UCSCiuc001mpk.3. human.

Organism-specific databases

CTDi8048.
GeneCardsiGC11M019160.
GeneReviewsiCSRP3.
HGNCiHGNC:2472. CSRP3.
HPAiHPA042581.
MIMi600824. gene.
607482. phenotype.
612124. phenotype.
neXtProtiNX_P50461.
Orphaneti154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA26971.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG294681.
GeneTreeiENSGT00550000074548.
HOGENOMiHOG000111233.
HOVERGENiHBG051143.
InParanoidiP50461.
KOiK09377.
OMAiQSPKQAR.
OrthoDBiEOG7CK39M.
PhylomeDBiP50461.
TreeFamiTF313758.

Miscellaneous databases

EvolutionaryTraceiP50461.
GeneWikiiCSRP3.
GenomeRNAii8048.
NextBioi30640.
PROiP50461.
SOURCEiSearch...

Gene expression databases

BgeeiP50461.
CleanExiHS_CSRP3.
ExpressionAtlasiP50461. baseline.
GenevestigatoriP50461.

Family and domain databases

Gene3Di2.10.110.10. 2 hits.
InterProiIPR001781. Znf_LIM.
[Graphical view]
PfamiPF00412. LIM. 2 hits.
[Graphical view]
SMARTiSM00132. LIM. 2 hits.
[Graphical view]
PROSITEiPS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Mapping of a human LIM protein (CLP) to human chromosome 11p15.1 by fluorescence in situ hybridization."
    Fung Y.W., Wang R.X., Heng H.H.Q., Liew C.C.
    Genomics 28:602-603(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Heart.
  2. "Cloning of the gene encoding the human muscle LIM protein, a regulator of myogenesis."
    Medvedev A., Jetten A.M.
    Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Muscle.
  3. "Cloning and characterization of the human muscle LIM protein gene."
    Yasunaga S., Harada H., Kimura A.
    Submitted (OCT-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
  4. "A novel member of LIM gene family involved in cardiovascular diseases."
    Chen K.H., Zhang J.F., Ma D.L., Tang J.
    Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Heart and Skeletal muscle.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skeletal muscle and Testis.
  6. "Structure and dynamics of the human muscle LIM protein."
    Schallus T., Feher K., Ulrich A.S., Stier G., Muhle-Goll C.
    FEBS Lett. 583:1017-1022(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 7-66 AND 119-176.
  7. "The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy."
    Knoell R., Hoshijima M., Hoffman H.M., Person V., Lorenzen-Schmidt I., Bang M.-L., Hayashi T., Shiga N., Yasukawa H., Schaper W., McKenna W., Yokoyama M., Schork N.J., Omens J.H., McCulloch A.D., Kimura A., Gregorio C.C., Poller W.
    , Schaper J., Schultheiss H.P., Chien K.R.
    Cell 111:943-955(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMD1M ARG-4.
  8. Cited for: VARIANTS CMH12 PRO-44; 54-ARG-GLY-55 AND GLY-58.
  9. Cited for: CHARACTERIZATION OF VARIANT CMD1M ARG-4, VARIANT CMH12 GLY-58, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiCSRP3_HUMAN
AccessioniPrimary (citable) accession number: P50461
Secondary accession number(s): Q9P131
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: April 29, 2015
This is version 143 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.