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Details on Person UniProt:P12107 COL11A1
| Class:Id | ReferenceGeneProduct:51146 |
|---|---|
| _chainChangeLog | signal peptide:1-35 added on Fri February 6 2015;propeptide:36-511 added on Fri February 6 2015;chain:512-1563 added on Fri February 6 2015;propeptide:1564-1806 added on Fri February 6 2015 |
| _displayName | UniProt:P12107 COL11A1 |
| _timestamp | 2024-11-03 20:13:47 |
| chain | signal peptide:1-35 propeptide:36-511 chain:512-1563 propeptide:1564-1806 |
| checksum | 7CBF744263321B43 |
| comment | FUNCTION May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.SUBUNIT Trimers composed of three different chains: alpha 1(XI), alpha 2(XI), and alpha 3(XI). Alpha 3(XI) is a post-translational modification of alpha 1(II). Alpha 1(V) can also be found instead of alpha 3(XI)=1(II).SUBCELLULAR LOCATION Additional isoforms seem to exist. There is alternative usage of exon IIA or exon IIB. Transcripts containing exon IIA or IIB are present in cartilage, but exon IIB is preferentially utilized in transcripts from tendon.TISSUE SPECIFICITY Cartilage, placenta and some tumor or virally transformed cell lines. Isoforms using exon IIA or IIB are found in the cartilage while isoforms using only exon IIB are found in the tendon.DOMAIN The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).PTM Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.PTM N-glycosylated.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 The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease may be caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the fibrillar collagen family. |
| description | recommendedName: Collagen alpha-1(XI) chain |
| geneName | COL11A1 COLL6 |
| identifier | P12107 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Calcium Cataract Collagen Deafness Direct protein sequencing Disease variant Disulfide bond Dwarfism Ectodermal dysplasia Extracellular matrix Glycoprotein Hydroxylation Metal-binding Non-syndromic deafness Proteomics identification Reference proteome Repeat Secreted Signal Stickler syndrome |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | COL11A1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8993543] ENSEMBL:ENSG00000060718 COL11A1 [Homo sapiens] |
| secondaryIdentifier | COBA1_HUMAN B1ASK7 D3DT73 E9PCU0 Q14034 Q149N0 Q9UIT4 Q9UIT5 Q9UIT6 |
| sequenceLength | 1806 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:144849] UniProt:P12107-2 COL11A1 [Homo sapiens] [ReferenceIsoform:144850] UniProt:P12107-3 COL11A1 [Homo sapiens] [ReferenceIsoform:402830] UniProt:P12107-1 COL11A1 [Homo sapiens] [ReferenceIsoform:8972340] UniProt:P12107-4 COL11A1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:2152278] Collagen alpha-1(XI) chain [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:2172430] COL11A1(36-1806) [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:2172960] 3x4Hyp-COL11A1(36-1806) [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:2172992] 3x4Hyp-3Hyp-COL11A1(36-1806) [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:2173046] 5Hyl-COL11A1(36-1806) [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:2173069] GalHyl-COL11A1(36-1806) [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:2173093] GlcGalHyl-COL11A1(36-1806) [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:2173149] 3x4Hyp-5Hyl-COL11A1(36-1806) [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:2173169] 3x4Hyp-GalHyl-COL11A1(36-1806) [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:2173201] 3x4Hyp-GlcGalHyl-COL11A1(36-1806) [endoplasmic reticulum lumen] [Homo sapiens] |
| (referenceSequence) | [ModifiedResidue:2172945] (2S,4R)-4-hydroxyproline at unknown position [ModifiedResidue:2173005] (2S,3S)-3-hydroxyproline at unknown position [ModifiedResidue:2173039] (2S,5R)-5-hydroxylysine at unknown position [ModifiedResidue:2173050] O5-galactosyl-L-hydroxylysine at unknown position [ModifiedResidue:2173096] O5-glucosylgalactosyl-L-hydroxylysine at unknown position |
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No pathways have been reviewed or authored by UniProt:P12107 COL11A1 (51146)
