CNMD chondromodulin [Homo sapiens (human)] - Gene

Summary

Official Symbol: CNMDprovided by HGNC
Official Full Name: chondromodulinprovided by HGNC
Primary source: HGNC:HGNC:17005
See related: Ensembl:ENSG00000136110 MIM:605147; AllianceGenome:HGNC:17005
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: mouse all
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Genomic context

Location:: 13q14.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (52703264..52739820, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (51918713..51955280, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (53277399..53313955, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Chondromodulin-1 and vascular endothelial growth factor-A expression in esophageal squamous cell carcinoma: accelerator and brake theory for angiogenesis at the early stage of cancer progression.
Title: Chondromodulin-1 and vascular endothelial growth factor-A expression in esophageal squamous cell carcinoma: accelerator and brake theory for angiogenesis at the early stage of cancer progression.
ChMI directly suppressed the proliferation and growth of osteosarcoma cells.
Title: Chondromodulin‑I suppresses tumorigenesis of human osteosarcoma cells.
CHM1 seems to have pleiotropic functions in Ewing sarcoma.
Title: The endochondral bone protein CHM1 sustains an undifferentiated, invasive phenotype, promoting lung metastasis in Ewing sarcoma.
The results of the present study indicated that ChMI was able to inhibit the growth of breast cancer cells; thus suggesting that ChM-I may have potential clinical applications in the treatment of breast cancer.
Title: Transfection of chondromodulin I into human breast cancer cells and its effect on the inhibition of cancer cell growth.
Data suggest ChM1 as potential tumor suppressor in gastric cancer and useful biomarker for the treatment and prognosis. Its expression was downregulated in cancer tissue, and correlated with advanced stages, lymph node metastasis, and poorer prognosis.
Title: Chondromodulin-1 functions as a tumor suppressor in gastric adenocarcinoma.
intact 20-25 kDa ChM-I is stored as a component of extracellular matrix in the avascular cartilage zones, but it is inactivated by a single N-terminal proteolytic cleavage in the hypertrophic zone of growth-plate cartilage
Title: The N-terminal cleavage of chondromodulin-I in growth-plate cartilage at the hypertrophic and calcified zones during bone development.
the inner meniscus contained larger amounts of ChM-I, and that the inner meniscus-derived ChM-I inhibited endothelial cell proliferation.
Title: Chondromodulin-I derived from the inner meniscus prevents endothelial cell proliferation.
Degenerative intervertebral disc cells express ChM-I. Administration of bFGF down-regulates the expression of ChM-I. Expression is correlated with the degree of degeneration.
Title: [Expression of chondromodulin-1 in the adult degenerative intervertebral disc].
Inhibition of YY1 in combination with forced expression of p300 and Sp3 restored the expression of ChM-I in cells with a hypomethylated promoter region, but not in cells with hypermethylation.
Title: Histone modifiers, YY1 and p300, regulate the expression of cartilage-specific gene, chondromodulin-I, in mesenchymal stem cells.
Data suggest that chondromodulin-I impairs the VEGF-A-stimulated motility of endothelial cells by destabilizing lamellipodial extensions.
Title: Impairment of VEGF-A-stimulated lamellipodial extensions and motility of vascular endothelial cells by chondromodulin-I, a cartilage-derived angiogenesis inhibitor.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92491 (e-PCR)
- UniSTS:85786

btcn2277 (e-PCR)
- UniSTS:519226

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endothelial cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteoglycan metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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)

NM_001011705.2 → NP_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:13 → 201

SF_P; Pulmonary surfactant proteins

smart01039
Location:104 → 201

BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
NM_007015.3 → NP_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, Q5TAM4, Q8TAY6, Q9UM18

Related

ENSP00000367198.3, ENST00000377962.8

Conserved Domains (2) summary

smart00019
Location:13 → 201

SF_P; Pulmonary surfactant proteins

smart01039
Location:104 → 201

BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

52703264..52739820 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430070.1 → XP_047286026.1 leukocyte cell-derived chemotaxin 1 isoform X5
XM_011534900.3 → XP_011533202.1 leukocyte cell-derived chemotaxin 1 isoform X4

Conserved Domains (1) summary

cl04394
Location:131 → 190

BRICHOS; BRICHOS domain
XM_011534899.3 → XP_011533201.1 leukocyte cell-derived chemotaxin 1 isoform X3

Conserved Domains (1) summary

cl04394
Location:131 → 190

BRICHOS; BRICHOS domain
XM_011534898.3 → XP_011533200.1 leukocyte cell-derived chemotaxin 1 isoform X2

Conserved Domains (2) summary

smart00019
Location:40 → 228

SF_P; Pulmonary surfactant proteins

smart01039
Location:131 → 228

BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer
XM_011534897.3 → XP_011533199.1 leukocyte cell-derived chemotaxin 1 isoform X1

Conserved Domains (2) summary

smart00019
Location:40 → 228

SF_P; Pulmonary surfactant proteins

smart01039
Location:131 → 228

BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer