Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 8048, updated on 8-Oct-2018

    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; Vega:OTTHUMG00000166100
    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

    Genomic context

    See CSRP3 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (19182030..19210571, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (19203577..19232118, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MAS related GPR family member X2 Neighboring gene zinc finger DHHC-type containing 13 Neighboring gene VISTA enhancer hs2144 Neighboring gene uncharacterized LOC105376580 Neighboring gene VISTA enhancer hs2145 Neighboring gene E2F transcription factor 8 Neighboring gene proliferating cell nuclear antigen pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC14488, MGC61993

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    actinin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telethonin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telethonin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle hypertrophy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac myofibril assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cellular calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    detection of muscle stretch IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein localization to organelle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of the force of heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle tissue development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)
    muscle lim protein isoform

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_011932.2 RefSeqGene

      Range
      5003..33544
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_440

    mRNA and Protein(s)

    1. NM_003476.4NP_003467.1  cysteine and glycine-rich protein 3

      See identical proteins and their annotated locations for NP_003467.1

      Status: REVIEWED

      Source sequence(s)
      AA192614, AC009652, AJ711422, BC024010
      Consensus CDS
      CCDS7848.1
      UniProtKB/Swiss-Prot
      P50461
      UniProtKB/TrEMBL
      A2TDB8
      Related
      ENSP00000431813.1, OTTHUMP00000235874, ENST00000533783.2, OTTHUMT00000394484
      Conserved Domains (2) summary
      cd09481
      Location:962
      LIM1_CRP3; The first LIM domain of Cysteine Rich Protein 3 (CRP3/MLP)
      cd09482
      Location:120173
      LIM2_CRP3; The second LIM domain of Cysteine Rich Protein 3 (CRP3/MLP)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      19182030..19210571 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448698.1XP_024304466.1  cysteine and glycine-rich protein 3 isoform X1

      Related
      ENSP00000497531.1, ENST00000649842.1
      Conserved Domains (1) summary
      cl02475
      Location:937
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    Support Center