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MATN1 (matrilin 1)

Identity

Alias (NCBI)CMP
CRTM
HGNC (Hugo) MATN1
HGNC Previous nameCRTM
 CMP
HGNC Previous namematrilin 1, cartilage matrix protein
LocusID (NCBI) 4146
Atlas_Id 54442
Location 1p35.2  [Link to chromosome band 1p35]
Location_base_pair Starts at 30711277 and ends at 30723585 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



External links

 

Nomenclature
HGNC (Hugo)MATN1   6907
Cards
Entrez_Gene (NCBI)MATN1    matrilin 1
AliasesCMP; CRTM
GeneCards (Weizmann)MATN1
Ensembl hg19 (Hinxton)ENSG00000162510 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162510 [Gene_View]  ENSG00000162510 [Sequence]  chr1:30711277-30723585 [Contig_View]  MATN1 [Vega]
ICGC DataPortalENSG00000162510
TCGA cBioPortalMATN1
AceView (NCBI)MATN1
Genatlas (Paris)MATN1
SOURCE (Princeton)MATN1
Genetics Home Reference (NIH)MATN1
Genomic and cartography
GoldenPath hg38 (UCSC)MATN1  -     chr1:30711277-30723585 -  1p35.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MATN1  -     1p35.2   [Description]    (hg19-Feb_2009)
GoldenPathMATN1 - 1p35.2 [CytoView hg19]  MATN1 - 1p35.2 [CytoView hg38]
ImmunoBaseENSG00000162510
Genome Data Viewer NCBIMATN1 [Mapview hg19]  
OMIM115437   
Gene and transcription
Genbank (Entrez)AK075519 AK312949 BC131710 M55683
RefSeq transcript (Entrez)NM_002379
Consensus coding sequences : CCDS (NCBI)MATN1
Gene ExpressionMATN1 [ NCBI-GEO ]   MATN1 [ EBI - ARRAY_EXPRESS ]   MATN1 [ SEEK ]   MATN1 [ MEM ]
Gene Expression Viewer (FireBrowse)MATN1 [ Firebrowse - Broad ]
GenevisibleExpression of MATN1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4146
GTEX Portal (Tissue expression)MATN1
Human Protein AtlasENSG00000162510-MATN1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP21941
Domaine pattern : Prosite (Expaxy)EGF_2 (PS01186)    VWFA (PS50234)   
Domains : Interpro (EBI)EGF-like_Ca-bd_dom    EGF-like_dom    Matrilin-1    Matrilin_cc_sf    Matrilin_coiled-coil_trimer    VWF_A    vWFA_dom_sf   
Domain families : Pfam (Sanger)Matrilin_ccoil (PF10393)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam10393    pfam00092   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  Matrilin_ccoil (SM01279)  VWA (SM00327)  
Conserved Domain (NCBI)MATN1
SuperfamilyP21941
AlphaFold pdb e-kbP21941   
Human Protein Atlas [tissue]ENSG00000162510-MATN1 [tissue]
HPRD00276
Protein Interaction databases
DIP (DOE-UCLA)P21941
IntAct (EBI)P21941
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  extracellular matrix organization  regulation of bone mineralization  extracellular matrix  collagen-containing extracellular matrix  protein-containing complex assembly  
Ontology : EGO-EBIgrowth plate cartilage chondrocyte morphogenesis  extracellular matrix structural constituent  calcium ion binding  protein binding  extracellular region  extracellular matrix organization  regulation of bone mineralization  extracellular matrix  collagen-containing extracellular matrix  protein-containing complex assembly  
NDEx NetworkMATN1
Atlas of Cancer Signalling NetworkMATN1
Wikipedia pathwaysMATN1
Orthology - Evolution
OrthoDB4146
GeneTree (enSembl)ENSG00000162510
Phylogenetic Trees/Animal Genes : TreeFamMATN1
Homologs : HomoloGeneMATN1
Homology/Alignments : Family Browser (UCSC)MATN1
Gene fusions - Rearrangements
Fusion : MitelmanITSN1/MATN1 [21q22.11/1p35.2]  
Fusion : QuiverMATN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMATN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MATN1
dbVarMATN1
ClinVarMATN1
MonarchMATN1
1000_GenomesMATN1 
Exome Variant ServerMATN1
GNOMAD BrowserENSG00000162510
Varsome BrowserMATN1
ACMGMATN1 variants
VarityP21941
Genomic Variants (DGV)MATN1 [DGVbeta]
DECIPHERMATN1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DMATN1
Mutations and Diseases : HGMDMATN1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMATN1
DgiDB (Drug Gene Interaction Database)MATN1
DoCM (Curated mutations)MATN1
CIViC (Clinical Interpretations of Variants in Cancer)MATN1
Cancer3DMATN1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM115437   
Orphanet
DisGeNETMATN1
MedgenMATN1
Genetic Testing Registry MATN1
NextProtP21941 [Medical]
GENETestsMATN1
Target ValidationMATN1
Huge Navigator MATN1 [HugePedia]
ClinGenMATN1
Clinical trials, drugs, therapy
MyCancerGenomeMATN1
Protein Interactions : CTDMATN1
Pharm GKB GenePA30650
PharosP21941
Clinical trialMATN1
Miscellaneous
canSAR (ICR)MATN1
HarmonizomeMATN1
DataMed IndexMATN1
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMATN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:17:57 CEST 2021

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