MATN1
Matrilin-1
Also known as: CMP, CRTM, MATN1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P21941
- Gene
- MATN1
- Ensembl
- ENSG00000162510
- Chromosome
- 1
- Canonical length
- 496 aa
- Protein class
- Predicted secreted proteins
- Secretome location
- Secreted to extracellular matrix
- Quaternary structure
- Homotrimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
496 residues, UniProt reviewed canonical sequence.
>P21941|MATN1
1 MRVLSGTSLM LCSLLLLLQA LCSPGLAPQS RGHLCRTRPT DLVFVVDSSR SVRPVEFEKV
61 KVFLSQVIES LDVGPNATRV GMVNYASTVK QEFSLRAHVS KAALLQAVRR IQPLSTGTMT
121 GLAIQFAITK AFGDAEGGRS RSPDISKVVI VVTDGRPQDS VQDVSARARA SGVELFAIGV
181 GSVDKATLRQ IASEPQDEHV DYVESYSVIE KLSRKFQEAF CVVSDLCATG DHDCEQVCIS
241 SPGSYTCACH EGFTLNSDGK TCNVCSGGGG SSATDLVFLI DGSKSVRPEN FELVKKFISQ
301 IVDTLDVSDK LAQVGLVQYS SSVRQEFPLG RFHTKKDIKA AVRNMSYMEK GTMTGAALKY
361 LIDNSFTVSS GARPGAQKVG IVFTDGRSQD YINDAAKKAK DLGFKMFAVG VGNAVEDELR
421 EIASEPVAEH YFYTADFKTI NQIGKKLQKK ICVEEDPCAC ESLVKFQAKV EGLLQALTRK
481 LEAVSKRLAI LENTVVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MATN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 4.6 nTPM
Expression across tissuesHPA
Tissue
- retina: 4.6 nTPM
- bone marrow: 0.7 nTPM
- lymph node: 0.5 nTPM
- cervix: 0.4 nTPM
- endometrium: 0.4 nTPM
- appendix: 0.3 nTPM
Single-cell type
- epididymal clear cells: 67 nCPM
- colonocytes: 23 nCPM
- epicardial cells: 18 nCPM
- enterocytes: 18 nCPM
- goblet cells: 14 nCPM
- tuft cells: 12 nCPM
Immune cell
- naive B-cell: 0.7 nTPM
- naive CD4 T-cell: 0.5 nTPM
- MAIT T-cell: 0.2 nTPM
- memory B-cell: 0.2 nTPM
- naive CD8 T-cell: 0.2 nTPM
- T-reg: 0.2 nTPM
Brain region
- white matter: 4 nTPM
- pons: 2.8 nTPM
- medulla oblongata: 2.7 nTPM
- basal ganglia: 2.4 nTPM
- cerebral cortex: 2.3 nTPM
- amygdala: 2.2 nTPM
ReferencesPubMed · IEDB
Publications for MATN1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
4 publications
- Biomarkers for Inner Ear Disorders: Scoping Review on the Role of Biomarkers in Hearing and Balance Disorders.
2020 · Diagnostics (Basel) · RCR 2 · 26 citations - The occurrence of autoantibodies to matrilin 1 reflects a tissue-specific response to cartilage of the respiratory tract in patients with relapsing polychondritis.
2001 · Arthritis Rheum · RCR 1.9 · 66 citations - Extra-articular cartilage affected in collagen-induced, but not pristane-induced, arthritis models.
2002 · Clin Exp Immunol · RCR 0.2 · 9 citations - A case of localized tracheobronchial relapsing polychondritis with positive matrilin-1 staining.
2020 · BMC Rheumatol
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.8
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.55
- DepMap mean gene effect
- -0.22
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- extracellular matrix organization
- protein-containing complex assembly
- regulation of bone mineralization
- growth plate cartilage chondrocyte morphogenesis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- EGF-like domain
- EGF-like calcium-binding domain
- von Willebrand factor, type A
- Matrilin, coiled-coil trimerisation domain
- Matrilin, coiled-coil domain superfamily
- von Willebrand factor A-like domain superfamily
- Extracellular Matrix Assembly and Organization
- von Willebrand factor type A domain
- Trimeric coiled-coil oligomerisation domain of matrilin
- Coagulation Factor Xa inhibitory site
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MATN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MATN1 as an antibody target. Whether an autoantibody or antibody against MATN1 could matter depends on whether native MATN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MATN1 is annotated as secreted, so native MATN1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label MATN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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