| UniProt ID | BSCL2_HUMAN | |
|---|---|---|
| UniProt AC | Q96G97 | |
| Protein Name | Seipin | |
| Gene Name | BSCL2 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 398 | |
| Subcellular Localization |
Endoplasmic reticulum membrane Multi-pass membrane protein . |
|
| Protein Description | Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues.. | |
| Protein Sequence | MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS | |
| 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 |
|---|---|---|---|---|---|
| 2 (in isoform 4) | Phosphorylation | - | 12.83 | 28348404 | |
| 3 (in isoform 4) | Phosphorylation | - | 55.56 | 28348404 | |
| 72 | Phosphorylation | PVHFYYRTDCDSSTT CCEEEEECCCCCCCC | 25.51 | 30576142 | |
| 77 | Phosphorylation | YRTDCDSSTTSLCSF EECCCCCCCCCCCCC | 23.58 | 30576142 | |
| 78 | Phosphorylation | RTDCDSSTTSLCSFP ECCCCCCCCCCCCCE | 25.10 | 30576142 | |
| 88 | N-linked_Glycosylation | LCSFPVANVSLTKGG CCCCEEEEEEECCCC | 24.93 | 14981520 | |
| 93 | Ubiquitination | VANVSLTKGGRDRVL EEEEEECCCCCEEEE | 65.74 | 2190698 | |
| 93 (in isoform 3) | Ubiquitination | - | 65.74 | 21906983 | |
| 93 (in isoform 2) | Ubiquitination | - | 65.74 | 21906983 | |
| 106 | Phosphorylation | VLMYGQPYRVTLELE EEECCCCEEEEEEEE | 15.16 | 25954137 | |
| 109 | Phosphorylation | YGQPYRVTLELELPE CCCCEEEEEEEECCC | 12.91 | 20058876 | |
| 141 | Phosphorylation | TRGGRIISTSSRSVM ECCCEEEECCCCHHH | 21.62 | 24505115 | |
| 142 | Phosphorylation | RGGRIISTSSRSVML CCCEEEECCCCHHHH | 21.95 | 30576142 | |
| 144 | Phosphorylation | GRIISTSSRSVMLHY CEEEECCCCHHHHHC | 28.76 | 30576142 | |
| 146 | Phosphorylation | IISTSSRSVMLHYRS EEECCCCHHHHHCHH | 17.52 | 30576142 | |
| 152 | N-linked_Glycosylation | RSVMLHYRSDLLQML CHHHHHCHHHHHHHH | 16.97 | 14981520 | |
| 153 | Phosphorylation | SVMLHYRSDLLQMLD HHHHHCHHHHHHHHH | 25.99 | - | |
| 184 | Phosphorylation | QLLEVELYADYRENS HHEEEEEEECCCCCC | 5.50 | - | |
| 213 | Phosphorylation | RIQLYGAYLRIHAHF HHHHHHEHHHHEEHH | 7.67 | 22461510 | |
| 242 | N-linked_Glycosylation | AFIGVASNFTFLSVI HHHHHHCCCCHHHHH | 30.18 | UniProtKB CARBOHYD | |
| 269 | Phosphorylation | IWPRHRFSLQVNIRK CCCCCCEEEEEEEEC | 20.18 | 24719451 | |
| 289 | Phosphorylation | KEVQRRISAHQPGPE HHHHHHHHCCCCCCC | 20.21 | 22468782 | |
| 333 | Phosphorylation | EEEKPDQQPLSGEEE CCCCCCCCCCCCCCC | 48.56 | 24719451 | |
| 346 | Phosphorylation | EELEPEASDGSGSWE CCCCCCCCCCCCCHH | 40.62 | - | |
| 351 | Phosphorylation | EASDGSGSWEDAALL CCCCCCCCHHHHHHH | 29.05 | - | |
| 372 | Phosphorylation | APAPASASAPVLETL CCCCCCCCCCCHHHC | 30.52 | 14702039 | |
| 381 | Phosphorylation | PVLETLGSSEPAGGA CCHHHCCCCCCCCCC | 34.34 | 24275569 |
| 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 BSCL2_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of BSCL2_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 BSCL2_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| H00266 | Hereditary spastic paraplegia (SPG) | |||||
| H00419 | Congenital generalized lipodystrophy (CGL) | |||||
| H00856 | Distal hereditary motor neuropathies (dHMN) | |||||
| OMIM Disease | ||||||
| 269700 | Congenital generalized lipodystrophy 2 (CGL2) | |||||
| 270685 | Spastic paraplegia 17, autosomal dominant (SPG17) | |||||
| 600794 | Neuronopathy, distal hereditary motor, 5A (HMN5A) | |||||
| 615924 | Encephalopathy, progressive, with or without lipodystrophy (PELD) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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| N-linked Glycosylation | |
| Reference | PubMed |
| "Heterozygous missense mutations in BSCL2 are associated with distalhereditary motor neuropathy and Silver syndrome."; Windpassinger C., Auer-Grumbach M., Irobi J., Patel H., Petek E.,Hoerl G., Malli R., Reed J.A., Dierick I., Verpoorten N., Warner T.T.,Proukakis C., Van den Bergh P., Verellen C., Van Maldergem L.,Merlini L., De Jonghe P., Timmerman V., Crosby A.H., Wagner K.; Nat. Genet. 36:271-276(2004). Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-88, AND VARIANTS SPG17 ANDHMN5 SER-88 AND LEU-90. | |
