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P50461

- CSRP3_HUMAN

UniProt

P50461 - CSRP3_HUMAN

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Protein

Cysteine and glycine-rich protein 3

Gene
CSRP3, CLP, MLP
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. actinin binding Source: BHF-UCL
  2. protein binding Source: UniProtKB
  3. structural constituent of muscle Source: BHF-UCL
  4. telethonin binding Source: BHF-UCL
  5. 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. protein localization to organelle Source: BHF-UCL
  8. regulation of the force of heart contraction Source: BHF-UCL
  9. 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: Chromosome 11

Organism-specific databases

HGNCiHGNC:2472. CSRP3.

Subcellular locationi

Nucleus Reviewed prediction. Cytoplasm. Cytoplasmcytoskeleton Reviewed prediction. CytoplasmmyofibrilsarcomereZ line By similarity
Note: Mainly cytoplasmic By similarity. In the nucleus it associates with the actin cytoskeleton Reviewed prediction. In the Z line, found associated with GLRX3 By similarity.1 Publication

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) [MIM:607482]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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) [MIM:612124]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.

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

ArrayExpressiP50461.
BgeeiP50461.
CleanExiHS_CSRP3.
GenevestigatoriP50461.

Organism-specific databases

HPAiHPA042581.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
TCAPO152732EBI-5658719,EBI-954089

Protein-protein interaction databases

BioGridi113736. 5 interactions.
IntActiP50461. 3 interactions.
STRINGi9606.ENSP00000265968.

Structurei

Secondary structure

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

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2O10NMR-A7-66[»]
2O13NMR-A119-176[»]
ProteinModelPortaliP50461.
SMRiP50461. Positions 1-178.

Miscellaneous databases

EvolutionaryTraceiP50461.

Family & Domainsi

Domains and Repeats

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

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi64 – 696Nuclear localization signal Reviewed prediction

Compositional bias

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

Sequence similaritiesi

Keywords - Domaini

LIM domain, Repeat

Phylogenomic databases

eggNOGiNOG294681.
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

MPNWGGGAKC GACEKTVYHA EEIQCNGRSF HKTCFHCMAC RKALDSTTVA    50
AHESEIYCKV CYGRRYGPKG IGYGQGAGCL STDTGEHLGL QFQQSPKPAR 100
SVTTSNPSKF TAKFGESEKC PRCGKSVYAA EKVMGGGKPW HKTCFRCAIC 150
GKSLESTNVT DKDGELYCKV CYAKNFGPTG IGFGGLTQQV EKKE 194
Length:194
Mass (Da):20,969
Last modified:October 1, 1996 - v1
Checksum:iFDB6E4F8D258C35F
GO

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti26 – 261N → H in AAF28868. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 databases

DMDMi1705933.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS7848.1.
RefSeqi NP_003467.1. NM_003476.4.
UniGenei Hs.83577.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2O10 NMR - A 7-66 [» ]
2O13 NMR - A 119-176 [» ]
ProteinModelPortali P50461.
SMRi P50461. Positions 1-178.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113736. 5 interactions.
IntActi P50461. 3 interactions.
STRINGi 9606.ENSP00000265968.

PTM databases

PhosphoSitei P50461.

Polymorphism databases

DMDMi 1705933.

Proteomic databases

MaxQBi P50461.
PaxDbi P50461.
PeptideAtlasi P50461.
PRIDEi P50461.

Protocols and materials databases

DNASUi 8048.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265968 ; ENSP00000265968 ; ENSG00000129170 .
ENST00000533783 ; ENSP00000431813 ; ENSG00000129170 .
GeneIDi 8048.
KEGGi hsa:8048.
UCSCi uc001mpk.3. human.

Organism-specific databases

CTDi 8048.
GeneCardsi GC11M019160.
GeneReviewsi CSRP3.
HGNCi HGNC:2472. CSRP3.
HPAi HPA042581.
MIMi 600824. gene.
607482. phenotype.
612124. phenotype.
neXtProti NX_P50461.
Orphaneti 154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBi PA26971.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG294681.
HOGENOMi HOG000111233.
HOVERGENi HBG051143.
InParanoidi P50461.
KOi K09377.
OMAi QSPKQAR.
OrthoDBi EOG7CK39M.
PhylomeDBi P50461.
TreeFami TF313758.

Miscellaneous databases

EvolutionaryTracei P50461.
GeneWikii CSRP3.
GenomeRNAii 8048.
NextBioi 30640.
PROi P50461.
SOURCEi Search...

Gene expression databases

ArrayExpressi P50461.
Bgeei P50461.
CleanExi HS_CSRP3.
Genevestigatori P50461.

Family and domain databases

Gene3Di 2.10.110.10. 2 hits.
InterProi IPR001781. Znf_LIM.
[Graphical view ]
Pfami PF00412. LIM. 2 hits.
[Graphical view ]
SMARTi SM00132. LIM. 2 hits.
[Graphical view ]
PROSITEi PS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 137 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

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