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P50461

- CSRP3_HUMAN

UniProt

P50461 - CSRP3_HUMAN

Protein

Cysteine and glycine-rich protein 3

Gene

CSRP3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    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. 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

    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 Curated. Cytoplasm 1 Publication. Cytoplasmcytoskeleton Curated. CytoplasmmyofibrilsarcomereZ line By similarity
    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 1 Publication
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 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. 5 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 – 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.
    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.
    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

    Experimental Info

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

    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. 1 Publication
    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:
    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. 8 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

    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: October 1, 2014
    This is version 138 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