| UniProt ID | LBN_HUMAN | |
|---|---|---|
| UniProt AC | Q86UK5 | |
| Protein Name | Limbin | |
| Gene Name | EVC2 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 1308 | |
| Subcellular Localization |
Cell membrane Single-pass type I membrane protein . Cytoplasm, cytoskeleton, cilium basal body . Cell projection, cilium . Cell projection, cilium membrane . Nucleus . The EvC complex localizes at the base of cilia in the EvC zone of primary cilia |
|
| Protein Description | Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.. | |
| Protein Sequence | MDPSGSRGRPTWVLAGGLLAVALALGGRGCLGASSRPRWRPLGAQPPRDPQVAPRSGPGLRIPPGRSGAGPESSTQDLPCMIWPKVECCHFKTAVEAPLGMKLDKKMEVFIPLSTSAASSGPWAHSLFAFIPSWPKKNLFKRESPITHRLYGDISREVQGTSENGVIFQKCALVSGSSEAQTARIWLLVNNTKTTSSANLSELLLLDSIAGLTIWDSVGNRTSEGFQAFSKKFLQVGDAFAVSYAATLQAGDLGNGESLKLPAQLTFQSSSRNRTQLKVLFSITAEENVTVLPHHGLHAAGFFIAFLLSLVLTWAALFLMVRYQCLKGNMLTRHRVWQYESKLEPLPFTSADGVNEDLSLNDQMIDILSSEDPGSMLQALEELEIATLNRADADLEACRTQISKDIIALLLKNLTSSGHLSPQVERKMSAVFKKQFLLLENEIQEEYDRKMVALTAECDLETRKKMENQYQREMMAMEEAEELLKRAGERSAVECSNLLRTLHGLEQEHLRKSLALQQEEDFAKAHRQLAVFQRNELHSIFFTQIKSAIFKGELKPEAAKMLLQNYSKIQENVEELMDFFQASKRYHLSKRFGHREYLVQNLQSSETRVQGLLSTAAAQLTHLIQKHERAGYLDEDQMEMLLERAQTEVFSIKQKLDNDLKQEKKKLHQKLITKRRRELLQKHREQRREQASVGEAFRTVEDAGQYLHQKRSLMEEHGATLEELQERLDQAALDDLRTLTLSLFEKATDELRRLQNSAMTQELLKRGVPWLFLQQILEEHGKEMAARAEQLEGEERDRDQEGVQSVRQRLKDDAPEAVTEEQAELRRWEHLIFMKLCSSVFSLSEEELLRMRQEVHGCFAQMDRSLALPKIRARVLLQQFQTAWREAEFVKLDQAVAAPELQQQSKVRKSRSKSKSKGELLKKCIEDKIHLCEEQASEDLVEKVRGELLRERVQRMEAQEGGFAQSLVALQFQKASRVTETLSAYTALLSIQDLLLEELSASEMLTKSACTQILESHSRELQELERKLEDQLVQQEAAQQQQALASWQQWVADGPGILNEPGEVDSERQVSTVLHQALSKSQTLLEQHQQCLREEQQNSVVLEDLLENMEADTFATLCSQELRLASYLARMAMVPGATLRRLLSVVLPTASQPQLLALLDSATERHVDHAAESDGGAEQADVGRRRKHQSWWQALDGKLRGDLISRGLEKMLWARKRKQSILKKTCLPLRERMIFSGKGSWPHLSLEPIGELAPVPIVGAETIDLLNTGEKLFIFRNPKEPEISLHVPPRKKKNFLNAKKAMRALGMD | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 4 | Phosphorylation | ----MDPSGSRGRPT ----CCCCCCCCCCE | 62.83 | 24043423 | |
| 6 | Phosphorylation | --MDPSGSRGRPTWV --CCCCCCCCCCEEC | 35.58 | 24043423 | |
| 11 | Phosphorylation | SGSRGRPTWVLAGGL CCCCCCCEECHHHHH | 27.18 | 24043423 | |
| 93 | Phosphorylation | VECCHFKTAVEAPLG CCCCCCCCCCCCCCC | 34.68 | - | |
| 220 | N-linked_Glycosylation | TIWDSVGNRTSEGFQ EEECCCCCCCCHHHH | 41.73 | UniProtKB CARBOHYD | |
| 339 | Phosphorylation | TRHRVWQYESKLEPL HHHHEEEEECCCCCC | 13.37 | 28152594 | |
| 341 | Phosphorylation | HRVWQYESKLEPLPF HHEEEEECCCCCCCC | 37.29 | 28152594 | |
| 415 | Phosphorylation | ALLLKNLTSSGHLSP HHHHHHCCCCCCCCH | 30.18 | 23911959 | |
| 416 | Phosphorylation | LLLKNLTSSGHLSPQ HHHHHCCCCCCCCHH | 37.17 | 23911959 | |
| 417 | Phosphorylation | LLKNLTSSGHLSPQV HHHHCCCCCCCCHHH | 25.62 | 23911959 | |
| 429 | Phosphorylation | PQVERKMSAVFKKQF HHHHHHHHHHHHHHH | 25.06 | 27251275 | |
| 455 | Phosphorylation | DRKMVALTAECDLET HHHHHHHHHHCCHHH | 15.63 | - | |
| 547 | Phosphorylation | IFFTQIKSAIFKGEL HHHHHHHHHHHCCCC | 28.38 | 27251275 | |
| 905 | Phosphorylation | APELQQQSKVRKSRS CHHHHHHHHHHHHHH | 28.87 | - | |
| 910 | Phosphorylation | QQSKVRKSRSKSKSK HHHHHHHHHHCCCCH | 31.08 | - | |
| 912 | Phosphorylation | SKVRKSRSKSKSKGE HHHHHHHHCCCCHHH | 48.66 | - | |
| 1008 | Phosphorylation | ASEMLTKSACTQILE CCHHHCHHHHHHHHH | 24.28 | - | |
| 1011 | Phosphorylation | MLTKSACTQILESHS HHCHHHHHHHHHHHH | 20.54 | - | |
| 1220 | Phosphorylation | WARKRKQSILKKTCL HHHHHHHHHHHHHCC | 32.68 | 24719451 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of LBN_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of LBN_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of LBN_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| H00503 | EVC-related disorders, including: Ellis-van Creveld syndrome; Weyers acrodental dysostosis | |||||
| OMIM Disease | ||||||
| 225500 | Ellis-van Creveld syndrome (EVC) | |||||
| 193530 | Acrofacial dysostosis, Weyers type (WAD) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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