UniProtKB - O15232 (MATN3_HUMAN)
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Protein
Matrilin-3
Gene
MATN3
Organism
Homo sapiens (Human)
Status
Functioni
Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.
GO - Molecular functioni
- calcium ion binding Source: InterPro
- extracellular matrix structural constituent Source: ProtInc
GO - Biological processi
- cellular protein metabolic process Source: Reactome
- extracellular matrix organization Source: Reactome
- post-translational protein modification Source: Reactome
- skeletal system development Source: ProtInc
Enzyme and pathway databases
Reactomei | R-HSA-3000178. ECM proteoglycans. R-HSA-381426. Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). R-HSA-8957275. Post-translational protein phosphorylation. |
Names & Taxonomyi
Protein namesi | Recommended name: Matrilin-3 |
Gene namesi | Name:MATN3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000132031.12. |
HGNCi | HGNC:6909. MATN3. |
MIMi | 602109. gene. |
neXtProti | NX_O15232. |
Pathology & Biotechi
Involvement in diseasei
Multiple epiphyseal dysplasia 5 (EDM5)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:607078Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054807 | 70 | R → H in EDM5. 1 PublicationCorresponds to variant dbSNP:rs104893640Ensembl. | 1 | |
Natural variantiVAR_020844 | 105 | F → S in EDM5. 1 Publication | 1 | |
Natural variantiVAR_019882 | 120 | T → M in EDM5; retained and accumulates within the cell. 4 PublicationsCorresponds to variant dbSNP:rs397515546Ensembl. | 1 | |
Natural variantiVAR_013691 | 121 | R → W in EDM5; retained and accumulates within the cell. 5 PublicationsCorresponds to variant dbSNP:rs104893637Ensembl. | 1 | |
Natural variantiVAR_019883 | 128 | A → P in EDM5; bilateral hereditary microepiphyseal dysplasia. 1 PublicationCorresponds to variant dbSNP:rs104893641Ensembl. | 1 | |
Natural variantiVAR_019884 | 134 | E → K in EDM5; retained and accumulates within the cell. 2 Publications | 1 | |
Natural variantiVAR_066830 | 171 – 176 | Missing in EDM5. 1 Publication | 6 | |
Natural variantiVAR_066831 | 173 | A → D in EDM5. 1 PublicationCorresponds to variant dbSNP:rs779413744Ensembl. | 1 | |
Natural variantiVAR_019885 | 192 | I → N in EDM5; retained and accumulates within the cell. 2 Publications | 1 | |
Natural variantiVAR_013692 | 194 | V → D in EDM5; retained and accumulates within the cell. 2 PublicationsCorresponds to variant dbSNP:rs104893645Ensembl. | 1 | |
Natural variantiVAR_054808 | 195 | T → K in EDM5. 2 Publications | 1 | |
Natural variantiVAR_066832 | 209 | R → P in EDM5. 1 PublicationCorresponds to variant dbSNP:rs749845872Ensembl. | 1 | |
Natural variantiVAR_054809 | 218 | Y → N in EDM5. 2 Publications | 1 | |
Natural variantiVAR_019886 | 219 | A → D in EDM5; retained and accumulates within the cell. 3 PublicationsCorresponds to variant dbSNP:rs28939677Ensembl. | 1 | |
Natural variantiVAR_066833 | 231 | K → N in EDM5. 1 PublicationCorresponds to variant dbSNP:rs773642745Ensembl. | 1 | |
Natural variantiVAR_066834 | 245 | V → M in EDM5. 1 PublicationCorresponds to variant dbSNP:rs182164052Ensembl. | 1 |
Spondyloepimetaphyseal dysplasia MATN3-related (SEMD-MATN3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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 also OMIM:608728Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019888 | 304 | C → S in SEMD-MATN3. 1 PublicationCorresponds to variant dbSNP:rs104893639Ensembl. | 1 |
Osteoarthritis 2 (OS2)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease 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 also OMIM:140600Keywords - Diseasei
Disease mutation, DwarfismOrganism-specific databases
DisGeNETi | 4148. |
GeneReviewsi | MATN3. |
MalaCardsi | MATN3. |
MIMi | 140600. phenotype. 607078. phenotype. 608728. phenotype. |
OpenTargetsi | ENSG00000132031. |
Orphaneti | 93311. Multiple epiphyseal dysplasia type 5. 156728. Spondyloepimetaphyseal dysplasia, matrilin-3 type. |
PharmGKBi | PA30652. |
Polymorphism and mutation databases
BioMutai | MATN3. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 28 | Sequence analysisAdd BLAST | 28 | |
ChainiPRO_0000007657 | 29 – 486 | Matrilin-3Add BLAST | 458 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 198 | Omega-N-methylarginineBy similarity | 1 | |
Disulfide bondi | 268 ↔ 279 | PROSITE-ProRule annotation | ||
Disulfide bondi | 275 ↔ 289 | PROSITE-ProRule annotation | ||
Disulfide bondi | 291 ↔ 304 | PROSITE-ProRule annotation | ||
Disulfide bondi | 310 ↔ 321 | PROSITE-ProRule annotation | ||
Disulfide bondi | 317 ↔ 331 | PROSITE-ProRule annotation | ||
Disulfide bondi | 333 ↔ 346 | PROSITE-ProRule annotation | ||
Disulfide bondi | 352 ↔ 363 | PROSITE-ProRule annotation | ||
Disulfide bondi | 359 ↔ 373 | PROSITE-ProRule annotation | ||
Disulfide bondi | 375 ↔ 388 | PROSITE-ProRule annotation | ||
Disulfide bondi | 394 ↔ 405 | PROSITE-ProRule annotation | ||
Disulfide bondi | 401 ↔ 415 | PROSITE-ProRule annotation | ||
Disulfide bondi | 417 ↔ 430 | PROSITE-ProRule annotation | ||
Modified residuei | 441 | Phosphoserine; by FAM20C1 Publication | 1 | |
Modified residuei | 442 | Phosphothreonine; by FAM20C1 Publication | 1 |
Keywords - PTMi
Disulfide bond, Methylation, PhosphoproteinProteomic databases
MaxQBi | O15232. |
PaxDbi | O15232. |
PeptideAtlasi | O15232. |
PRIDEi | O15232. |
PTM databases
iPTMneti | O15232. |
PhosphoSitePlusi | O15232. |
Miscellaneous databases
PMAP-CutDBi | O15232. |
Expressioni
Tissue specificityi
Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders.
Gene expression databases
Bgeei | ENSG00000132031. |
CleanExi | HS_MATN3. |
Genevisiblei | O15232. HS. |
Organism-specific databases
HPAi | HPA051250. |
Interactioni
Subunit structurei
Can form homooligomers (monomers, dimers, trimers and tetramers) and heterooligomers with matrilin-1 (By similarity). Interacts with COMP.By similarity1 Publication
Binary interactionsi
Protein-protein interaction databases
BioGridi | 110318. 7 interactors. |
IntActi | O15232. 5 interactors. |
STRINGi | 9606.ENSP00000383894. |
Structurei
3D structure databases
ProteinModelPortali | O15232. |
SMRi | O15232. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 83 – 258 | VWFAPROSITE-ProRule annotationAdd BLAST | 176 | |
Domaini | 264 – 305 | EGF-like 1PROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 306 – 347 | EGF-like 2PROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 348 – 389 | EGF-like 3PROSITE-ProRule annotationAdd BLAST | 42 | |
Domaini | 390 – 431 | EGF-like 4PROSITE-ProRule annotationAdd BLAST | 42 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 456 – 480 | By similarityAdd BLAST | 25 |
Keywords - Domaini
Coiled coil, EGF-like domain, Repeat, SignalPhylogenomic databases
eggNOGi | KOG1217. Eukaryota. ENOG4111IJ5. LUCA. |
GeneTreei | ENSGT00910000144060. |
HOGENOMi | HOG000263415. |
HOVERGENi | HBG056906. |
InParanoidi | O15232. |
KOi | K19467. |
OMAi | RFQETFC. |
OrthoDBi | EOG091G04O4. |
PhylomeDBi | O15232. |
TreeFami | TF330078. |
Family and domain databases
Gene3Di | 3.40.50.410. 1 hit. |
InterProi | View protein in InterPro IPR001881. EGF-like_Ca-bd_dom. IPR013032. EGF-like_CS. IPR000742. EGF-like_dom. IPR009030. Growth_fac_rcpt_cys_sf. IPR030765. Matrilin_3. IPR036337. Matrilin_cc_sf. IPR019466. Matrilin_coiled-coil_trimer. IPR002035. VWF_A. IPR036465. vWFA_dom_sf. |
PANTHERi | PTHR45117. PTHR45117. 1 hit. |
Pfami | View protein in Pfam PF07645. EGF_CA. 1 hit. PF10393. Matrilin_ccoil. 1 hit. PF00092. VWA. 1 hit. |
SMARTi | View protein in SMART SM00181. EGF. 4 hits. SM00179. EGF_CA. 4 hits. SM01279. Matrilin_ccoil. 1 hit. SM00327. VWA. 1 hit. |
SUPFAMi | SSF53300. SSF53300. 1 hit. SSF57184. SSF57184. 1 hit. SSF58002. SSF58002. 1 hit. |
PROSITEi | View protein in PROSITE PS01186. EGF_2. 4 hits. PS50026. EGF_3. 4 hits. PS50234. VWFA. 1 hit. |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: O15232-1) [UniParc]FASTAAdd to basket
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.
10 20 30 40 50
MPRPAPARRL PGLLLLLWPL LLLPSAAPDP VARPGFRRLE TRGPGGSPGR
60 70 80 90 100
RPSPAAPDGA PASGTSEPGR ARGAGVCKSR PLDLVFIIDS SRSVRPLEFT
110 120 130 140 150
KVKTFVSRII DTLDIGPADT RVAVVNYAST VKIEFQLQAY TDKQSLKQAV
160 170 180 190 200
GRITPLSTGT MSGLAIQTAM DEAFTVEAGA REPSSNIPKV AIIVTDGRPQ
210 220 230 240 250
DQVNEVAARA QASGIELYAV GVDRADMASL KMMASEPLEE HVFYVETYGV
260 270 280 290 300
IEKLSSRFQE TFCALDPCVL GTHQCQHVCI SDGEGKHHCE CSQGYTLNAD
310 320 330 340 350
KKTCSALDRC ALNTHGCEHI CVNDRSGSYH CECYEGYTLN EDRKTCSAQD
360 370 380 390 400
KCALGTHGCQ HICVNDRTGS HHCECYEGYT LNADKKTCSV RDKCALGSHG
410 420 430 440 450
CQHICVSDGA ASYHCDCYPG YTLNEDKKTC SATEEARRLV STEDACGCEA
460 470 480
TLAFQDKVSS YLQRLNTKLD DILEKLKINE YGQIHR
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019881 | 11 | P → S1 PublicationCorresponds to variant dbSNP:rs963330242Ensembl. | 1 | |
Natural variantiVAR_054807 | 70 | R → H in EDM5. 1 PublicationCorresponds to variant dbSNP:rs104893640Ensembl. | 1 | |
Natural variantiVAR_020844 | 105 | F → S in EDM5. 1 Publication | 1 | |
Natural variantiVAR_019882 | 120 | T → M in EDM5; retained and accumulates within the cell. 4 PublicationsCorresponds to variant dbSNP:rs397515546Ensembl. | 1 | |
Natural variantiVAR_013691 | 121 | R → W in EDM5; retained and accumulates within the cell. 5 PublicationsCorresponds to variant dbSNP:rs104893637Ensembl. | 1 | |
Natural variantiVAR_019883 | 128 | A → P in EDM5; bilateral hereditary microepiphyseal dysplasia. 1 PublicationCorresponds to variant dbSNP:rs104893641Ensembl. | 1 | |
Natural variantiVAR_019884 | 134 | E → K in EDM5; retained and accumulates within the cell. 2 Publications | 1 | |
Natural variantiVAR_066830 | 171 – 176 | Missing in EDM5. 1 Publication | 6 | |
Natural variantiVAR_066831 | 173 | A → D in EDM5. 1 PublicationCorresponds to variant dbSNP:rs779413744Ensembl. | 1 | |
Natural variantiVAR_019885 | 192 | I → N in EDM5; retained and accumulates within the cell. 2 Publications | 1 | |
Natural variantiVAR_013692 | 194 | V → D in EDM5; retained and accumulates within the cell. 2 PublicationsCorresponds to variant dbSNP:rs104893645Ensembl. | 1 | |
Natural variantiVAR_054808 | 195 | T → K in EDM5. 2 Publications | 1 | |
Natural variantiVAR_066832 | 209 | R → P in EDM5. 1 PublicationCorresponds to variant dbSNP:rs749845872Ensembl. | 1 | |
Natural variantiVAR_054809 | 218 | Y → N in EDM5. 2 Publications | 1 | |
Natural variantiVAR_019886 | 219 | A → D in EDM5; retained and accumulates within the cell. 3 PublicationsCorresponds to variant dbSNP:rs28939677Ensembl. | 1 | |
Natural variantiVAR_066833 | 231 | K → N in EDM5. 1 PublicationCorresponds to variant dbSNP:rs773642745Ensembl. | 1 | |
Natural variantiVAR_066834 | 245 | V → M in EDM5. 1 PublicationCorresponds to variant dbSNP:rs182164052Ensembl. | 1 | |
Natural variantiVAR_019887 | 252 | E → K Secreted normally as the wild-type. 3 PublicationsCorresponds to variant dbSNP:rs52826764Ensembl. | 1 | |
Natural variantiVAR_015852 | 303 | T → M3 PublicationsCorresponds to variant dbSNP:rs77245812Ensembl. | 1 | |
Natural variantiVAR_019888 | 304 | C → S in SEMD-MATN3. 1 PublicationCorresponds to variant dbSNP:rs104893639Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054374 | 266 – 307 | Missing in isoform 2. 1 PublicationAdd BLAST | 42 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ224741 mRNA. Translation: CAA12110.1. EU541440 mRNA. Translation: ACB29772.1. AC079145 Genomic DNA. Translation: AAX88937.1. CH471053 Genomic DNA. Translation: EAX00837.1. BC139907 mRNA. Translation: AAI39908.1. AJ001047 mRNA. Translation: CAA04501.1. Y13341 mRNA. Translation: CAA73785.1. |
CCDSi | CCDS46226.1. [O15232-1] |
RefSeqi | NP_002372.1. NM_002381.4. [O15232-1] |
UniGenei | Hs.656199. |
Genome annotation databases
Ensembli | ENST00000407540; ENSP00000383894; ENSG00000132031. [O15232-1] ENST00000421259; ENSP00000398753; ENSG00000132031. [O15232-2] |
GeneIDi | 4148. |
KEGGi | hsa:4148. |
UCSCi | uc002rdl.4. human. [O15232-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | MATN3_HUMAN | |
Accessioni | O15232Primary (citable) accession number: O15232 Secondary accession number(s): B2CPU0, Q4ZG02 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 20, 2001 |
Last sequence update: | May 1, 1999 | |
Last modified: | February 28, 2018 | |
This is version 177 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |