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

    Gene ID: 8048, updated on 23-Nov-2023

    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; AllianceGenome:HGNC:2472
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CSRP3 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (19182030..19201983, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (19302167..19322081, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (19203577..19223530, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MAS related GPR family member X2 Neighboring gene Sharpr-MPRA regulatory region 14303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3197 Neighboring gene zinc finger DHHC-type palmitoyltransferase 13 Neighboring gene VISTA enhancer hs2144 Neighboring gene VISTA enhancer hs2145 Neighboring gene CSRP3 and E2F8 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:19253866-19255065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:19263697-19264268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:19264269-19264838 Neighboring gene E2F transcription factor 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:19290948-19291137 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC14488, MGC61993

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actinin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actinin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of muscle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables telethonin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telethonin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T-tubule organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle hypertrophy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac myofibril assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in detection of muscle stretch IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle cell cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein kinase C signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to organelle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of the force of heart contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal muscle tissue development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    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)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001369404.1NP_001356333.1  cysteine and glycine-rich protein 3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC009652
      Consensus CDS
      CCDS91449.1
      UniProtKB/TrEMBL
      A0A3B3ISZ2
      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
    2. NM_003476.5NP_003467.1  cysteine and glycine-rich protein 3 isoform 1

      See identical proteins and their annotated locations for NP_003467.1

      Status: REVIEWED

      Source sequence(s)
      AC009652
      Consensus CDS
      CCDS7848.1
      UniProtKB/Swiss-Prot
      P50461, Q9P131, S4S7M7
      UniProtKB/TrEMBL
      A2TDB8
      Related
      ENSP00000265968.3, ENST00000265968.9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      19182030..19201983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      19302167..19322081 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)