O15232 · MATN3_HUMAN
- ProteinMatrilin-3
- GeneMATN3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids486 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | collagen-containing extracellular matrix | |
Cellular Component | endoplasmic reticulum lumen | |
Cellular Component | extracellular matrix | |
Cellular Component | extracellular region | |
Cellular Component | matrilin complex | |
Molecular Function | calcium ion binding | |
Molecular Function | extracellular matrix structural constituent | |
Biological Process | cartilage development | |
Biological Process | extracellular matrix organization | |
Biological Process | skeletal system development |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameMatrilin-3
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO15232
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Multiple epiphyseal dysplasia 5 (EDM5)
- Note
- DescriptionA generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis.
- See alsoMIM:607078
Natural variants in EDM5
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_054807 | 70 | R>H | in EDM5; dbSNP:rs104893640 | |
VAR_020844 | 105 | F>S | in EDM5 | |
VAR_019882 | 120 | T>M | in EDM5; retained and accumulates within the cell; dbSNP:rs397515546 | |
VAR_013691 | 121 | R>W | in EDM5; retained and accumulates within the cell; dbSNP:rs104893637 | |
VAR_019883 | 128 | A>P | in EDM5; bilateral hereditary microepiphyseal dysplasia; dbSNP:rs104893641 | |
VAR_019884 | 134 | E>K | in EDM5; retained and accumulates within the cell; dbSNP:rs2103484088 | |
VAR_066830 | 171-176 | missing | in EDM5 | |
VAR_066831 | 173 | A>D | in EDM5; dbSNP:rs779413744 | |
VAR_019885 | 192 | I>N | in EDM5; retained and accumulates within the cell; dbSNP:rs2103483989 | |
VAR_013692 | 194 | V>D | in EDM5; retained and accumulates within the cell; dbSNP:rs104893645 | |
VAR_054808 | 195 | T>K | in EDM5; dbSNP:rs765225021 | |
VAR_066832 | 209 | R>P | in EDM5; dbSNP:rs749845872 | |
VAR_054809 | 218 | Y>N | in EDM5; dbSNP:rs2103483937 | |
VAR_019886 | 219 | A>D | in EDM5; retained and accumulates within the cell; dbSNP:rs28939677 | |
VAR_066833 | 231 | K>N | in EDM5; dbSNP:rs773642745 | |
VAR_066834 | 245 | V>M | in EDM5; dbSNP:rs182164052 |
Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (SEMDBCD)
- Note
- DescriptionAn autosomal recessive bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies.
- See alsoMIM:608728
Natural variants in SEMDBCD
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_019888 | 304 | C>S | in SEMDBCD; dbSNP:rs104893639 |
Osteoarthritis 2 (OS2)
- Note
- DescriptionA degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints. Patients with osteoarthritis may have one, a few, or all of these sites affected.
- See alsoMIM:140600
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_019881 | 11 | in dbSNP:rs963330242 | |||
Sequence: P → S | ||||||
Natural variant | VAR_054807 | 70 | in EDM5; dbSNP:rs104893640 | |||
Sequence: R → H | ||||||
Natural variant | VAR_020844 | 105 | in EDM5 | |||
Sequence: F → S | ||||||
Natural variant | VAR_019882 | 120 | in EDM5; retained and accumulates within the cell; dbSNP:rs397515546 | |||
Sequence: T → M | ||||||
Natural variant | VAR_013691 | 121 | in EDM5; retained and accumulates within the cell; dbSNP:rs104893637 | |||
Sequence: R → W | ||||||
Natural variant | VAR_019883 | 128 | in EDM5; bilateral hereditary microepiphyseal dysplasia; dbSNP:rs104893641 | |||
Sequence: A → P | ||||||
Natural variant | VAR_019884 | 134 | in EDM5; retained and accumulates within the cell; dbSNP:rs2103484088 | |||
Sequence: E → K | ||||||
Natural variant | VAR_066830 | 171-176 | in EDM5 | |||
Sequence: Missing | ||||||
Natural variant | VAR_066831 | 173 | in EDM5; dbSNP:rs779413744 | |||
Sequence: A → D | ||||||
Natural variant | VAR_019885 | 192 | in EDM5; retained and accumulates within the cell; dbSNP:rs2103483989 | |||
Sequence: I → N | ||||||
Natural variant | VAR_013692 | 194 | in EDM5; retained and accumulates within the cell; dbSNP:rs104893645 | |||
Sequence: V → D | ||||||
Natural variant | VAR_054808 | 195 | in EDM5; dbSNP:rs765225021 | |||
Sequence: T → K | ||||||
Natural variant | VAR_066832 | 209 | in EDM5; dbSNP:rs749845872 | |||
Sequence: R → P | ||||||
Natural variant | VAR_054809 | 218 | in EDM5; dbSNP:rs2103483937 | |||
Sequence: Y → N | ||||||
Natural variant | VAR_019886 | 219 | in EDM5; retained and accumulates within the cell; dbSNP:rs28939677 | |||
Sequence: A → D | ||||||
Natural variant | VAR_066833 | 231 | in EDM5; dbSNP:rs773642745 | |||
Sequence: K → N | ||||||
Natural variant | VAR_066834 | 245 | in EDM5; dbSNP:rs182164052 | |||
Sequence: V → M | ||||||
Natural variant | VAR_019887 | 252 | secreted normally as the wild-type; dbSNP:rs52826764 | |||
Sequence: E → K | ||||||
Natural variant | VAR_015852 | 303 | in dbSNP:rs77245812 | |||
Sequence: T → M | ||||||
Natural variant | VAR_019888 | 304 | in SEMDBCD; dbSNP:rs104893639 | |||
Sequence: C → S |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 588 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, modified residue, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-28 | |||||
Sequence: MPRPAPARRLPGLLLLLWPLLLLPSAAP | ||||||
Chain | PRO_0000007657 | 29-486 | Matrilin-3 | |||
Sequence: DPVARPGFRRLETRGPGGSPGRRPSPAAPDGAPASGTSEPGRARGAGVCKSRPLDLVFIIDSSRSVRPLEFTKVKTFVSRIIDTLDIGPADTRVAVVNYASTVKIEFQLQAYTDKQSLKQAVGRITPLSTGTMSGLAIQTAMDEAFTVEAGAREPSSNIPKVAIIVTDGRPQDQVNEVAARAQASGIELYAVGVDRADMASLKMMASEPLEEHVFYVETYGVIEKLSSRFQETFCALDPCVLGTHQCQHVCISDGEGKHHCECSQGYTLNADKKTCSALDRCALNTHGCEHICVNDRSGSYHCECYEGYTLNEDRKTCSAQDKCALGTHGCQHICVNDRTGSHHCECYEGYTLNADKKTCSVRDKCALGSHGCQHICVSDGAASYHCDCYPGYTLNEDKKTCSATEEARRLVSTEDACGCEATLAFQDKVSSYLQRLNTKLDDILEKLKINEYGQIHR | ||||||
Modified residue | 198 | Omega-N-methylarginine | ||||
Sequence: R | ||||||
Disulfide bond | 268↔279 | |||||
Sequence: CVLGTHQCQHVC | ||||||
Disulfide bond | 275↔289 | |||||
Sequence: CQHVCISDGEGKHHC | ||||||
Disulfide bond | 291↔304 | |||||
Sequence: CSQGYTLNADKKTC | ||||||
Disulfide bond | 310↔321 | |||||
Sequence: CALNTHGCEHIC | ||||||
Disulfide bond | 317↔331 | |||||
Sequence: CEHICVNDRSGSYHC | ||||||
Disulfide bond | 333↔346 | |||||
Sequence: CYEGYTLNEDRKTC | ||||||
Disulfide bond | 352↔363 | |||||
Sequence: CALGTHGCQHIC | ||||||
Disulfide bond | 359↔373 | |||||
Sequence: CQHICVNDRTGSHHC | ||||||
Disulfide bond | 375↔388 | |||||
Sequence: CYEGYTLNADKKTC | ||||||
Disulfide bond | 394↔405 | |||||
Sequence: CALGSHGCQHIC | ||||||
Disulfide bond | 401↔415 | |||||
Sequence: CQHICVSDGAASYHC | ||||||
Disulfide bond | 417↔430 | |||||
Sequence: CYPGYTLNEDKKTC | ||||||
Modified residue | 441 | Phosphoserine; by FAM20C | ||||
Sequence: S | ||||||
Modified residue | 442 | Phosphothreonine; by FAM20C | ||||
Sequence: T |
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Subunit
Can form homooligomers (monomers, dimers, trimers and tetramers) and heterooligomers with matrilin-1 (By similarity).
Interacts with COMP. Component of a complex containing at least CRELD2, MANF, MATN3 and PDIA4 (By similarity).
Interacts with COMP. Component of a complex containing at least CRELD2, MANF, MATN3 and PDIA4 (By similarity).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O15232 | INCA1 Q0VD86 | 3 | EBI-6262458, EBI-6509505 | |
BINARY | O15232 | KRTAP10-8 P60410 | 3 | EBI-6262458, EBI-10171774 | |
BINARY | O15232 | NOTCH2NLA Q7Z3S9 | 3 | EBI-6262458, EBI-945833 | |
BINARY | O15232 | PDIA4 P13667 | 6 | EBI-6262458, EBI-1054653 | |
BINARY | O15232 | TCF4 P15884 | 3 | EBI-6262458, EBI-533224 | |
BINARY | O15232 | TCF4 P15884-3 | 3 | EBI-6262458, EBI-13636688 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain, coiled coil.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 32-75 | Disordered | ||||
Sequence: ARPGFRRLETRGPGGSPGRRPSPAAPDGAPASGTSEPGRARGAG | ||||||
Domain | 83-258 | VWFA | ||||
Sequence: DLVFIIDSSRSVRPLEFTKVKTFVSRIIDTLDIGPADTRVAVVNYASTVKIEFQLQAYTDKQSLKQAVGRITPLSTGTMSGLAIQTAMDEAFTVEAGAREPSSNIPKVAIIVTDGRPQDQVNEVAARAQASGIELYAVGVDRADMASLKMMASEPLEEHVFYVETYGVIEKLSSRF | ||||||
Domain | 264-305 | EGF-like 1 | ||||
Sequence: ALDPCVLGTHQCQHVCISDGEGKHHCECSQGYTLNADKKTCS | ||||||
Domain | 306-347 | EGF-like 2 | ||||
Sequence: ALDRCALNTHGCEHICVNDRSGSYHCECYEGYTLNEDRKTCS | ||||||
Domain | 348-389 | EGF-like 3 | ||||
Sequence: AQDKCALGTHGCQHICVNDRTGSHHCECYEGYTLNADKKTCS | ||||||
Domain | 390-431 | EGF-like 4 | ||||
Sequence: VRDKCALGSHGCQHICVSDGAASYHCDCYPGYTLNEDKKTCS | ||||||
Coiled coil | 456-480 | |||||
Sequence: DKVSSYLQRLNTKLDDILEKLKINE |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 2 isoforms produced by Alternative splicing.
O15232-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length486
- Mass (Da)52,817
- Last updated1999-05-01 v2
- Checksum688847BCC791B331
O15232-2
- Name2
- Differences from canonical
- 266-307: Missing
Features
Showing features for alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_054374 | 266-307 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AJ224741 EMBL· GenBank· DDBJ | CAA12110.1 EMBL· GenBank· DDBJ | mRNA | ||
EU541440 EMBL· GenBank· DDBJ | ACB29772.1 EMBL· GenBank· DDBJ | mRNA | ||
AC079145 EMBL· GenBank· DDBJ | AAX88937.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471053 EMBL· GenBank· DDBJ | EAX00837.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC139907 EMBL· GenBank· DDBJ | AAI39908.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ001047 EMBL· GenBank· DDBJ | CAA04501.1 EMBL· GenBank· DDBJ | mRNA | ||
Y13341 EMBL· GenBank· DDBJ | CAA73785.1 EMBL· GenBank· DDBJ | mRNA |