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Details on Person UniProt:P55287-2 CDH11

Class:IdReferenceIsoform:144894
_chainChangeLogsignal peptide:1-22 added on Fri February 6 2015;propeptide:23-53 added on Fri February 6 2015;chain:54-796 added on Fri February 6 2015
_displayNameUniProt:P55287-2 CDH11
_timestamp2024-11-03 20:18:11
chainsignal peptide:1-22
propeptide:23-53
chain:54-796
checksumE17090EC95C59936
commentFUNCTION Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Required for proper focal adhesion assembly (PubMed:33811546). Involved in the regulation of cell migration (PubMed:33811546).SUBUNIT Interacts with PCDH8.SUBCELLULAR LOCATION Expressed mainly in brain but also found in other tissues. Expressed in neuroblasts. In the embryo from 67 to 72 days of gestation, detected at high levels in facial mesenchyme including the central palatal mesenchyme, dental mesenchyme, the eye and optic muscle, and the tongue (at protein level) (PubMed:33811546).DOMAIN Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.DISEASE A chromosomal aberration involving CDH11 is a common genetic feature of aneurysmal bone cyst, a benign osseous neoplasm. Translocation t(16;17)(q22;p13) with USP6. The translocation generates a fusion gene in which the strong CDH11 promoter is fused to the entire USP6 coding sequence, resulting in USP6 transcriptional up-regulation.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.
descriptionrecommendedName: Cadherin-11 alternativeName: OSF-4 alternativeName: Osteoblast cadherin shortName: OB-cadherin
geneNameCDH11
identifierP55287
isoformParent
isSequenceChangedFALSE
keywordAlternative splicing
Calcium
Cell adhesion
Cell membrane
Chromosomal rearrangement
Cleavage on pair of basic residues
Deafness
Disease variant
Glycoprotein
Intellectual disability
Membrane
Metal-binding
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Signal
Transmembrane
Transmembrane helix
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameCDH11
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8995877] ENSEMBL:ENSG00000140937 CDH11 [Homo sapiens]
secondaryIdentifierCAD11_HUMAN
A8K5D6
A8MZC8
B7WP28
Q15065
Q15066
Q9UQ93
Q9UQ94
sequenceLength796
species[Species:48887] Homo sapiens
variantIdentifierP55287-2
(referenceEntity)[EntityWithAccessionedSequence:9759514] CDH11v [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:P55287-2 CDH11 (144894)