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    CNMD chondromodulin [ Homo sapiens (human) ]

    Gene ID: 11061, updated on 13-Feb-2019

    Summary

    Official Symbol
    CNMDprovided by HGNC
    Official Full Name
    chondromodulinprovided by HGNC
    Primary source
    HGNC:HGNC:17005
    See related
    Ensembl:ENSG00000136110 MIM:605147
    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
    CHM1; CHM-I; LECT1; BRICD3; MYETS1
    Summary
    This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in thyroid (RPKM 1.5), salivary gland (RPKM 1.3) and 3 other tissues See more
    Orthologs

    Genomic context

    See CNMD in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (52703264..52739812, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (53277399..53313947, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1 like 2 Neighboring gene mitochondrial ribosomal protein S31 pseudogene 4 Neighboring gene SGT1 homolog, MIS12 kinetochore complex assembly cochaperone Neighboring gene microRNA 759 Neighboring gene peptidylprolyl isomerase A pseudogene 26

    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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    endothelial cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endothelial cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of vascular endothelial growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    proteoglycan metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    endomembrane system IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    leukocyte cell-derived chemotaxin 1
    Names
    BRICHOS domain containing 3
    chondromodulin-1
    chondromodulin-I
    leukocyte cell derived chemotaxin 1
    multiple myeloma tumor suppressor 1

    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.

    mRNA and Protein(s)

    1. NM_001011705.1NP_001011705.1  leukocyte cell-derived chemotaxin 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001011705.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      BC025659
      Consensus CDS
      CCDS45051.1
      UniProtKB/Swiss-Prot
      O75829
      Related
      ENSP00000388576.2, ENST00000448904.6
      Conserved Domains (2) summary
      smart00019
      Location:13201
      SF_P; Pulmonary surfactant proteins
      smart01039
      Location:104201
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
    2. NM_007015.3NP_008946.1  leukocyte cell-derived chemotaxin 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_008946.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL139085, AL139089
      Consensus CDS
      CCDS9437.1
      UniProtKB/Swiss-Prot
      O75829
      Related
      ENSP00000367198.3, ENST00000377962.7
      Conserved Domains (2) summary
      smart00019
      Location:13201
      SF_P; Pulmonary surfactant proteins
      smart01039
      Location:104201
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      52703264..52739812 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534899.2XP_011533201.1  leukocyte cell-derived chemotaxin 1 isoform X3

      Conserved Domains (1) summary
      cl04394
      Location:131190
      BRICHOS; BRICHOS domain
    2. XM_011534898.2XP_011533200.1  leukocyte cell-derived chemotaxin 1 isoform X2

      Conserved Domains (2) summary
      smart00019
      Location:40228
      SF_P; Pulmonary surfactant proteins
      smart01039
      Location:131228
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
    3. XM_011534900.2XP_011533202.1  leukocyte cell-derived chemotaxin 1 isoform X4

      Conserved Domains (1) summary
      cl04394
      Location:131190
      BRICHOS; BRICHOS domain
    4. XM_011534897.2XP_011533199.1  leukocyte cell-derived chemotaxin 1 isoform X1

      Conserved Domains (2) summary
      smart00019
      Location:40228
      SF_P; Pulmonary surfactant proteins
      smart01039
      Location:131228
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
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