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MATN1 (matrilin 1, cartilage matrix protein)

Identity

Alias_namesCRTM
CMP
Other alias
HGNC (Hugo) MATN1
LocusID (NCBI) 4146
Atlas_Id 54442
Location 1p35.2  [Link to chromosome band 1p35]
Location_base_pair Starts at 31184124 and ends at 31196432 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ITSN1 (21q22.11) / MATN1 (1p35.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)MATN1   6907
Cards
Entrez_Gene (NCBI)MATN1  4146  matrilin 1, cartilage matrix protein
AliasesCMP; CRTM
GeneCards (Weizmann)MATN1
Ensembl hg19 (Hinxton)ENSG00000162510 [Gene_View]  chr1:31184124-31196432 [Contig_View]  MATN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000162510 [Gene_View]  chr1:31184124-31196432 [Contig_View]  MATN1 [Vega]
ICGC DataPortalENSG00000162510
TCGA cBioPortalMATN1
AceView (NCBI)MATN1
Genatlas (Paris)MATN1
WikiGenes4146
SOURCE (Princeton)MATN1
Genetics Home Reference (NIH)MATN1
Genomic and cartography
GoldenPath hg19 (UCSC)MATN1  -     chr1:31184124-31196432 -  1p35.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MATN1  -     1p35.2   [Description]    (hg38-Dec_2013)
EnsemblMATN1 - 1p35.2 [CytoView hg19]  MATN1 - 1p35.2 [CytoView hg38]
Mapping of homologs : NCBIMATN1 [Mapview hg19]  MATN1 [Mapview hg38]
OMIM115437   
Gene and transcription
Genbank (Entrez)AK075519 AK312949 BC131710 BC160064 M55683
RefSeq transcript (Entrez)NM_002379
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_027941 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)MATN1
Cluster EST : UnigeneHs.150366 [ NCBI ]
CGAP (NCI)Hs.150366
Alternative Splicing GalleryENSG00000162510
Gene ExpressionMATN1 [ NCBI-GEO ]   MATN1 [ EBI - ARRAY_EXPRESS ]   MATN1 [ SEEK ]   MATN1 [ MEM ]
Gene Expression Viewer (FireBrowse)MATN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4146
GTEX Portal (Tissue expression)MATN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21941   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21941  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21941
Splice isoforms : SwissVarP21941
PhosPhoSitePlusP21941
Domaine pattern : Prosite (Expaxy)EGF_2 (PS01186)    VWFA (PS50234)   
Domains : Interpro (EBI)EGF-like_CS    EGF-like_dom    Matrilin-1    Matrilin_coiled-coil_trimer    VWF_A   
Domain families : Pfam (Sanger)Matrilin_ccoil (PF10393)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam10393    pfam00092   
Domain families : Smart (EMBL)EGF (SM00181)  VWA (SM00327)  
Conserved Domain (NCBI)MATN1
DMDM Disease mutations4146
Blocks (Seattle)MATN1
SuperfamilyP21941
Human Protein AtlasENSG00000162510
Peptide AtlasP21941
HPRD00276
IPIIPI00011262   IPI00816443   IPI00746308   
Protein Interaction databases
DIP (DOE-UCLA)P21941
IntAct (EBI)P21941
FunCoupENSG00000162510
BioGRIDMATN1
STRING (EMBL)MATN1
ZODIACMATN1
Ontologies - Pathways
QuickGOP21941
Ontology : AmiGOgrowth plate cartilage chondrocyte morphogenesis  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  protein complex assembly  extracellular matrix organization  regulation of bone mineralization  
Ontology : EGO-EBIgrowth plate cartilage chondrocyte morphogenesis  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  proteinaceous extracellular matrix  protein complex assembly  extracellular matrix organization  regulation of bone mineralization  
NDEx NetworkMATN1
Atlas of Cancer Signalling NetworkMATN1
Wikipedia pathwaysMATN1
Orthology - Evolution
OrthoDB4146
GeneTree (enSembl)ENSG00000162510
Phylogenetic Trees/Animal Genes : TreeFamMATN1
HOVERGENP21941
HOGENOMP21941
Homologs : HomoloGeneMATN1
Homology/Alignments : Family Browser (UCSC)MATN1
Gene fusions - Rearrangements
Fusion : MitelmanITSN1/MATN1 [21q22.11/1p35.2]  [t(1;21)(p35;q22)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMATN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MATN1
dbVarMATN1
ClinVarMATN1
1000_GenomesMATN1 
Exome Variant ServerMATN1
ExAC (Exome Aggregation Consortium)MATN1 (select the gene name)
Genetic variants : HAPMAP4146
Genomic Variants (DGV)MATN1 [DGVbeta]
DECIPHER (Syndromes)1:31184124-31196432  ENSG00000162510
CONAN: Copy Number AnalysisMATN1 
Mutations
ICGC Data PortalMATN1 
TCGA Data PortalMATN1 
Broad Tumor PortalMATN1
OASIS PortalMATN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMATN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMATN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MATN1
DgiDB (Drug Gene Interaction Database)MATN1
DoCM (Curated mutations)MATN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MATN1 (select a term)
intoGenMATN1
Cancer3DMATN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM115437   
Orphanet
MedgenMATN1
Genetic Testing Registry MATN1
NextProtP21941 [Medical]
TSGene4146
GENETestsMATN1
Huge Navigator MATN1 [HugePedia]
snp3D : Map Gene to Disease4146
BioCentury BCIQMATN1
ClinGenMATN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4146
Chemical/Pharm GKB GenePA30650
Clinical trialMATN1
Miscellaneous
canSAR (ICR)MATN1 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMATN1
EVEXMATN1
GoPubMedMATN1
iHOPMATN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:14:38 CET 2017

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