Reactome | UniProt:O15232 MATN3

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UniProt:O15232 MATN3 Show undefined attributes

chain	signal peptide:1-28 chain:29-486
checksum	688847BCC791B331
comment	FUNCTION Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks.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).INTERACTION Expressed only in cartilaginous tissues, such as vertebrae, ribs and shoulders.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.
crossReference	[DatabaseIdentifier:12372325] RefSeq:NP_002372.1 [DatabaseIdentifier:12286670] Pharos - Targets:O15232 [DatabaseIdentifier:12266734] PRO:O15232 [DatabaseIdentifier:12137669] Orphanet:MATN3 [DatabaseIdentifier:12126416] OpenTargets:ENSG00000132031 [DatabaseIdentifier:11841823] HPA:ENSG00000132031-MATN3 [DatabaseIdentifier:11804405] GlyGen:O15232 [DatabaseIdentifier:11788796] GeneCards:MATN3 [DatabaseIdentifier:11695304] ENSEMBL:ENST00000421259 [DatabaseIdentifier:11695305] ENSEMBL:ENST00000407540 [DatabaseIdentifier:11572605] ENSEMBL:ENSP00000398753 [DatabaseIdentifier:11572606] ENSEMBL:ENSP00000383894 [DatabaseIdentifier:11474065] ENSEMBL:ENSG00000132031
databaseName	UniProt
dbId	59665
description	recommendedName: Matrilin-3
displayName	UniProt:O15232 MATN3
geneName	MATN3
identifier	O15232
isSequenceChanged	false
keyword	Alternative splicing Coiled coil Disease variant Disulfide bond Dwarfism EGF-like domain Methylation Phosphoprotein Proteomics identification Reference proteome Repeat Secreted Signal
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	MATN3
otherIdentifier	11725482_a_at 11758097_x_at 16894883 206091_PM_at 206091_at 2542712 2542713 2542714 2542716 2542717 2542718 2542721 2542722 2542723 2542724 2542725 2542726 2542727 2542731 2542732 340_at 35964_at 4148 8050537 AJ001047_at A_23_P102058 A_33_P3420466 GE61466 GO:0001501 GO:0005198 GO:0005201 GO:0005509 GO:0005515 GO:0005576 GO:0005788 GO:0030198 GO:0030312 GO:0031012 GO:0048856 GO:0051216 GO:0120216 HMNXSV003025251 ILMN_1663171 PH_hs_0028082 TC02001615.hg g13518040_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-2426297] MATN3 [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-8957026] p-MATN3 [endoplasmic reticulum lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-8956719] MATN3 [endoplasmic reticulum lumen] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12739206] UCSC:O15232 MATN3 [ReferenceDNASequence:12111415] OMIM:602109 MATN3 [ReferenceDNASequence:12053156] NCBI Gene:4148 MATN3 [ReferenceDNASequence:11969063] Monarch:4148 MATN3 [ReferenceDNASequence:11880144] KEGG:hsa:4148 MATN3 [ReferenceDNASequence:11820448] HGNC:6909 MATN3 [ReferenceDNASequence:11436771] dbSNP Gene:4148 MATN3 [ReferenceDNASequence:11415194] CTD Gene:4148 MATN3 [ReferenceDNASequence:11399747] COSMIC - genes:MATN3 MATN3 [ReferenceDNASequence:11339274] BioGPS Gene:4148 MATN3 [ReferenceDNASequence:ensembl:ENSG00000132031] ENSEMBL:ENSG00000132031 MATN3
referenceTranscript	[ReferenceRNASequence:12554111] RefSeq:NM_002381.5 MATN3
schemaClass	ReferenceGeneProduct
secondaryIdentifier	MATN3_HUMAN B2CPU0 Q4ZG02
sequenceLength	486
species	[Species:48887] Homo sapiens
stId	uniprot:O15232
url	http://purl.uniprot.org/uniprot/O15232

Referrals

(interactor)	[UndirectedInteraction:11287519] UniProt:Q7Z3S9 <-> UniProt:O15232 (IntAct) [UndirectedInteraction:11229873] UniProt:P02787 <-> UniProt:O15232 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-2426297] MATN3 [extracellular region] [EntityWithAccessionedSequence:R-HSA-8957026] p-MATN3 [endoplasmic reticulum lumen] [EntityWithAccessionedSequence:R-HSA-8956719] MATN3 [endoplasmic reticulum lumen]
(referenceSequence)	[ModifiedResidue:8956985] phosphorylated residue at unknown position

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