Homo sapiens Gene: MATN1
Summary
InnateDB Gene IDBG-95361.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MATN1
Gene Name matrilin 1, cartilage matrix protein
Synonyms CMP; CRTM
Species Homo sapiens
Ensembl Gene ENSG00000162510
Encoded Proteins
matrilin 1, cartilage matrix protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:30711277-30723587
Strand Reverse strand
Band p35.2
Transcripts
ENST00000373765 ENSP00000362870
ENST00000494561
ENST00000477320
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0002062 chondrocyte differentiation
GO:0003429 growth plate cartilage chondrocyte morphogenesis
GO:0006461 protein complex assembly
GO:0030198 extracellular matrix organization
GO:0030500 regulation of bone mineralization
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Extracellular matrix organization pathway
ECM proteoglycans pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt P21941
TrEMBL
UniProt Splice Variant
Entrez Gene 4146
UniGene Hs.150366
RefSeq NM_002379
HUGO HGNC:6907
OMIM 115437
CCDS CCDS336
HPRD
IMGT
EMBL AK312949 AL137857 M55675 M55676 M55677 M55679 M55680 M55681 M55682 M55683
GenPept AAA63904 AAB38702 BAG35790 CAI19322
RNA Seq Atlas 4146