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CNMD chondromodulin [ Homo sapiens (human) ]

Gene ID: 11061, updated on 18-Aug-2020

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
109.20200815 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (52703264..52739820, 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 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 Functions

What'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_001011705.2NP_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)
    AL139085, AL139089
    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, ENST00000377962.8
    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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    52703264..52739820 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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