UniProt:Q14050 COL9A3

chain
  • signal peptide:1-25
  • chain:26-684
checksum 892F035CF6E06733
comment
  • FUNCTION Structural component of hyaline cartilage and vitreous of the eye.SUBUNIT Heterotrimer of an alpha 1(IX), an alpha 2(IX) and an alpha 3(IX) chain.SUBCELLULAR LOCATION Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.PTM Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.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. Susceptibility to intervertebral disk disease is conferred by variant p.Arg103Trp (PubMed:11308397).DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the fibril-associated collagens with interrupted helices (FACIT) family.
databaseName UniProt
dbId 51180
description
  • recommendedName: Collagen alpha-3(IX) chain
displayName UniProt:Q14050 COL9A3
geneName
  • COL9A3
identifier Q14050
isSequenceChanged false
keyword
  • 3D-structure
  • Collagen
  • Deafness
  • Disease variant
  • Dwarfism
  • Extracellular matrix
  • Glycoprotein
  • Hydroxylation
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
  • Stickler syndrome
moleculeType Protein
name
  • COL9A3
otherIdentifier
  • 11723419_a_at
  • 1299
  • 16915771
  • 204724_PM_s_at
  • 204724_s_at
  • 36455_at
  • 3892975
  • 3892976
  • 3892977
  • 3892978
  • 3892979
  • 3892980
  • 3892981
  • 3892982
  • 3892985
  • 3892986
  • 3892987
  • 3892988
  • 3892989
  • 3892990
  • 3892991
  • 3892992
  • 3892993
  • 3892994
  • 3892995
  • 3892996
  • 3892997
  • 3892998
  • 3892999
  • 3893000
  • 3893001
  • 3893002
  • 3893003
  • 3893004
  • 3893005
  • 3893006
  • 3893007
  • 3893009
  • 3893010
  • 3893012
  • 3893013
  • 3893014
  • 3893015
  • 3893016
  • 3893017
  • 3893018
  • 3893019
  • 3893020
  • 3893021
  • 3893022
  • 3893023
  • 3893024
  • 3893025
  • 3893026
  • 3893027
  • 3893028
  • 3893029
  • 3893030
  • 3893031
  • 8063970
  • A_14_P128790
  • A_23_P40108
  • GE57767
  • GO:0005198
  • GO:0005576
  • GO:0005581
  • GO:0005594
  • GO:0005604
  • GO:0005788
  • GO:0030020
  • GO:0030312
  • GO:0031012
  • GO:0042803
  • HMNXSV003042267
  • ILMN_1740155
  • L41162_at
  • PH_hs_0022389
  • TC20000499.hg
  • TC20001344.hg
  • g4502966_3p_a_at
physicalEntity
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • CO9A3_HUMAN
  • Q13681
  • Q9H4G9
  • Q9UPE2
sequenceLength 684
stId uniprot:Q14050

Referrals

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