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Protein

Matrilin-3

Gene

MATN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • extracellular matrix structural constituent Source: ProtInc

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Matrilin-3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MATN3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000132031.12

Human Gene Nomenclature Database

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HGNCi
HGNC:6909 MATN3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602109 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O15232

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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:607078
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05480770R → H in EDM5. 1 PublicationCorresponds to variant dbSNP:rs104893640EnsemblClinVar.1
Natural variantiVAR_020844105F → S in EDM5. 1 Publication1
Natural variantiVAR_019882120T → M in EDM5; retained and accumulates within the cell. 4 PublicationsCorresponds to variant dbSNP:rs397515546EnsemblClinVar.1
Natural variantiVAR_013691121R → W in EDM5; retained and accumulates within the cell. 5 PublicationsCorresponds to variant dbSNP:rs104893637EnsemblClinVar.1
Natural variantiVAR_019883128A → P in EDM5; bilateral hereditary microepiphyseal dysplasia. 1 PublicationCorresponds to variant dbSNP:rs104893641EnsemblClinVar.1
Natural variantiVAR_019884134E → K in EDM5; retained and accumulates within the cell. 2 Publications1
Natural variantiVAR_066830171 – 176Missing in EDM5. 1 Publication6
Natural variantiVAR_066831173A → D in EDM5. 1 PublicationCorresponds to variant dbSNP:rs779413744EnsemblClinVar.1
Natural variantiVAR_019885192I → N in EDM5; retained and accumulates within the cell. 2 Publications1
Natural variantiVAR_013692194V → D in EDM5; retained and accumulates within the cell. 2 PublicationsCorresponds to variant dbSNP:rs104893645EnsemblClinVar.1
Natural variantiVAR_054808195T → K in EDM5. 2 Publications1
Natural variantiVAR_066832209R → P in EDM5. 1 PublicationCorresponds to variant dbSNP:rs749845872Ensembl.1
Natural variantiVAR_054809218Y → N in EDM5. 2 Publications1
Natural variantiVAR_019886219A → D in EDM5; retained and accumulates within the cell. 3 PublicationsCorresponds to variant dbSNP:rs28939677EnsemblClinVar.1
Natural variantiVAR_066833231K → N in EDM5. 1 PublicationCorresponds to variant dbSNP:rs773642745Ensembl.1
Natural variantiVAR_066834245V → 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:608728
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019888304C → S in SEMD-MATN3. 1 PublicationCorresponds to variant dbSNP:rs104893639EnsemblClinVar.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:140600

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
4148

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
MATN3

MalaCards human disease database

More...
MalaCardsi
MATN3
MIMi140600 phenotype
607078 phenotype
608728 phenotype

Open Targets

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OpenTargetsi
ENSG00000132031

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93311 Multiple epiphyseal dysplasia type 5
156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30652

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MATN3

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 28Sequence analysisAdd BLAST28
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000765729 – 486Matrilin-3Add BLAST458

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei198Omega-N-methylarginineBy similarity1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi268 ↔ 279PROSITE-ProRule annotation
Disulfide bondi275 ↔ 289PROSITE-ProRule annotation
Disulfide bondi291 ↔ 304PROSITE-ProRule annotation
Disulfide bondi310 ↔ 321PROSITE-ProRule annotation
Disulfide bondi317 ↔ 331PROSITE-ProRule annotation
Disulfide bondi333 ↔ 346PROSITE-ProRule annotation
Disulfide bondi352 ↔ 363PROSITE-ProRule annotation
Disulfide bondi359 ↔ 373PROSITE-ProRule annotation
Disulfide bondi375 ↔ 388PROSITE-ProRule annotation
Disulfide bondi394 ↔ 405PROSITE-ProRule annotation
Disulfide bondi401 ↔ 415PROSITE-ProRule annotation
Disulfide bondi417 ↔ 430PROSITE-ProRule annotation
Modified residuei441Phosphoserine; by FAM20C1 Publication1
Modified residuei442Phosphothreonine; by FAM20C1 Publication1

Keywords - PTMi

Disulfide bond, Methylation, Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O15232

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O15232

PeptideAtlas

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PeptideAtlasi
O15232

PRoteomics IDEntifications database

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PRIDEi
O15232

ProteomicsDB human proteome resource

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ProteomicsDBi
48527

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O15232

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O15232

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
O15232

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000132031 Expressed in 117 organ(s), highest expression level in tibia

CleanEx database of gene expression profiles

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CleanExi
HS_MATN3

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O15232 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA051250

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Can form homooligomers (monomers, dimers, trimers and tetramers) and heterooligomers with matrilin-1 (By similarity). Interacts with COMP.By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110318, 7 interactors

Protein interaction database and analysis system

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IntActi
O15232, 5 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000383894

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O15232

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O15232

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini83 – 258VWFAPROSITE-ProRule annotationAdd BLAST176
Domaini264 – 305EGF-like 1PROSITE-ProRule annotationAdd BLAST42
Domaini306 – 347EGF-like 2PROSITE-ProRule annotationAdd BLAST42
Domaini348 – 389EGF-like 3PROSITE-ProRule annotationAdd BLAST42
Domaini390 – 431EGF-like 4PROSITE-ProRule annotationAdd BLAST42

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili456 – 480By similarityAdd BLAST25

Keywords - Domaini

Coiled coil, EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1217 Eukaryota
ENOG4111IJ5 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157581

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000263415

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG056906

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O15232

KEGG Orthology (KO)

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KOi
K19467

Identification of Orthologs from Complete Genome Data

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OMAi
ICVNDGA

Database of Orthologous Groups

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OrthoDBi
EOG091G04O4

Database for complete collections of gene phylogenies

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PhylomeDBi
O15232

TreeFam database of animal gene trees

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TreeFami
TF330078

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.410, 1 hit

Integrated resource of protein families, domains and functional sites

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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

The PANTHER Classification System

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PANTHERi
PTHR45117 PTHR45117, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF10393 Matrilin_ccoil, 1 hit
PF00092 VWA, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00181 EGF, 4 hits
SM00179 EGF_CA, 4 hits
SM01279 Matrilin_ccoil, 1 hit
SM00327 VWA, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53300 SSF53300, 1 hit
SSF57184 SSF57184, 1 hit
SSF58002 SSF58002, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01186 EGF_2, 4 hits
PS50026 EGF_3, 4 hits
PS50234 VWFA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative 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.

« Hide
        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
Length:486
Mass (Da):52,817
Last modified:May 1, 1999 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i688847BCC791B331
GO
Isoform 2 (identifier: O15232-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     266-307: Missing.

Show »
Length:444
Mass (Da):48,317
Checksum:i86E2198CA1627B15
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01988111P → S1 PublicationCorresponds to variant dbSNP:rs963330242Ensembl.1
Natural variantiVAR_05480770R → H in EDM5. 1 PublicationCorresponds to variant dbSNP:rs104893640EnsemblClinVar.1
Natural variantiVAR_020844105F → S in EDM5. 1 Publication1
Natural variantiVAR_019882120T → M in EDM5; retained and accumulates within the cell. 4 PublicationsCorresponds to variant dbSNP:rs397515546EnsemblClinVar.1
Natural variantiVAR_013691121R → W in EDM5; retained and accumulates within the cell. 5 PublicationsCorresponds to variant dbSNP:rs104893637EnsemblClinVar.1
Natural variantiVAR_019883128A → P in EDM5; bilateral hereditary microepiphyseal dysplasia. 1 PublicationCorresponds to variant dbSNP:rs104893641EnsemblClinVar.1
Natural variantiVAR_019884134E → K in EDM5; retained and accumulates within the cell. 2 Publications1
Natural variantiVAR_066830171 – 176Missing in EDM5. 1 Publication6
Natural variantiVAR_066831173A → D in EDM5. 1 PublicationCorresponds to variant dbSNP:rs779413744EnsemblClinVar.1
Natural variantiVAR_019885192I → N in EDM5; retained and accumulates within the cell. 2 Publications1
Natural variantiVAR_013692194V → D in EDM5; retained and accumulates within the cell. 2 PublicationsCorresponds to variant dbSNP:rs104893645EnsemblClinVar.1
Natural variantiVAR_054808195T → K in EDM5. 2 Publications1
Natural variantiVAR_066832209R → P in EDM5. 1 PublicationCorresponds to variant dbSNP:rs749845872Ensembl.1
Natural variantiVAR_054809218Y → N in EDM5. 2 Publications1
Natural variantiVAR_019886219A → D in EDM5; retained and accumulates within the cell. 3 PublicationsCorresponds to variant dbSNP:rs28939677EnsemblClinVar.1
Natural variantiVAR_066833231K → N in EDM5. 1 PublicationCorresponds to variant dbSNP:rs773642745Ensembl.1
Natural variantiVAR_066834245V → M in EDM5. 1 PublicationCorresponds to variant dbSNP:rs182164052Ensembl.1
Natural variantiVAR_019887252E → K Secreted normally as the wild-type. 3 PublicationsCorresponds to variant dbSNP:rs52826764EnsemblClinVar.1
Natural variantiVAR_015852303T → M3 PublicationsCorresponds to variant dbSNP:rs77245812EnsemblClinVar.1
Natural variantiVAR_019888304C → S in SEMD-MATN3. 1 PublicationCorresponds to variant dbSNP:rs104893639EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_054374266 – 307Missing in isoform 2. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS46226.1 [O15232-1]

NCBI Reference Sequences

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RefSeqi
NP_002372.1, NM_002381.4 [O15232-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.656199

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000407540; ENSP00000383894; ENSG00000132031 [O15232-1]
ENST00000421259; ENSP00000398753; ENSG00000132031 [O15232-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4148

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4148

UCSC genome browser

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UCSCi
uc002rdl.4 human [O15232-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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
CCDSiCCDS46226.1 [O15232-1]
RefSeqiNP_002372.1, NM_002381.4 [O15232-1]
UniGeneiHs.656199

3D structure databases

ProteinModelPortaliO15232
SMRiO15232
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110318, 7 interactors
IntActiO15232, 5 interactors
STRINGi9606.ENSP00000383894

PTM databases

iPTMnetiO15232
PhosphoSitePlusiO15232

Polymorphism and mutation databases

BioMutaiMATN3

Proteomic databases

MaxQBiO15232
PaxDbiO15232
PeptideAtlasiO15232
PRIDEiO15232
ProteomicsDBi48527

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000407540; ENSP00000383894; ENSG00000132031 [O15232-1]
ENST00000421259; ENSP00000398753; ENSG00000132031 [O15232-2]
GeneIDi4148
KEGGihsa:4148
UCSCiuc002rdl.4 human [O15232-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4148
DisGeNETi4148
EuPathDBiHostDB:ENSG00000132031.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MATN3
GeneReviewsiMATN3
HGNCiHGNC:6909 MATN3
HPAiHPA051250
MalaCardsiMATN3
MIMi140600 phenotype
602109 gene
607078 phenotype
608728 phenotype
neXtProtiNX_O15232
OpenTargetsiENSG00000132031
Orphaneti93311 Multiple epiphyseal dysplasia type 5
156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type
PharmGKBiPA30652

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1217 Eukaryota
ENOG4111IJ5 LUCA
GeneTreeiENSGT00940000157581
HOGENOMiHOG000263415
HOVERGENiHBG056906
InParanoidiO15232
KOiK19467
OMAiICVNDGA
OrthoDBiEOG091G04O4
PhylomeDBiO15232
TreeFamiTF330078

Enzyme and pathway databases

ReactomeiR-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

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MATN3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
4148
PMAP-CutDBiO15232

Protein Ontology

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PROi
PR:O15232

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000132031 Expressed in 117 organ(s), highest expression level in tibia
CleanExiHS_MATN3
GenevisibleiO15232 HS

Family and domain databases

Gene3Di3.40.50.410, 1 hit
InterProiView 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
PANTHERiPTHR45117 PTHR45117, 1 hit
PfamiView protein in Pfam
PF10393 Matrilin_ccoil, 1 hit
PF00092 VWA, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 4 hits
SM00179 EGF_CA, 4 hits
SM01279 Matrilin_ccoil, 1 hit
SM00327 VWA, 1 hit
SUPFAMiSSF53300 SSF53300, 1 hit
SSF57184 SSF57184, 1 hit
SSF58002 SSF58002, 1 hit
PROSITEiView protein in PROSITE
PS01186 EGF_2, 4 hits
PS50026 EGF_3, 4 hits
PS50234 VWFA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMATN3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15232
Secondary accession number(s): B2CPU0, Q4ZG02
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: May 1, 1999
Last modified: December 5, 2018
This is version 181 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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