KEGG   Homo sapiens (human): 26580
Entry
26580             CDS       T01001                                 
Symbol
BSCL2, GNG3LG, HMN5, HMN5C, PELD, SPG17
Name
(RefSeq) BSCL2 lipid droplet biogenesis associated, seipin
  KO
K19365  seipin
Organism
hsa  Homo sapiens (human)
Disease
H00266  Hereditary spastic paraplegia
H00419  Congenital generalized lipodystrophy
H00856  Distal hereditary motor neuropathies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09191 Unclassified: metabolism
   99983 Lipid metabolism
    26580 (BSCL2)
SSDB
Motif
Pfam: Seipin
Other DBs
NCBI-GeneID: 26580
NCBI-ProteinID: NP_116056
OMIM: 606158
HGNC: 15832
Ensembl: ENSG00000168000
Pharos: Q96G97(Tbio)
UniProt: Q96G97 A0A024R549
Structure
Position
11:complement(62690262..62709537)
AA seq 398 aa
MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTV
SHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVN
QDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLE
VELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVA
SNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEE
STPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTE
ANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS
NT seq 1197 nt   +upstreamnt  +downstreamnt
atggtcaacgaccctccagtacctgccttactgtgggcccaggaggtgggccaagtcttg
gcaggccgtgcccgcaggctgctgctgcagtttggggtgctcttctgcaccatcctcctt
ttgctctgggtgtctgtcttcctctatggctccttctactattcctatatgccgacagtc
agccacctcagccctgtgcatttctactacaggaccgactgtgattcctccaccacctca
ctctgctccttccctgttgccaatgtctcgctgactaagggtggacgtgatcgggtgctg
atgtatggacagccgtatcgtgttaccttagagcttgagctgccagagtcccctgtgaat
caagatttgggcatgttcttggtcaccatttcctgctacaccagaggtggccgaatcatc
tccacttcttcgcgttcggtgatgctgcattaccgctcagacctgctccagatgctggac
acactggtcttctctagcctcctgctatttggctttgcagagcagaagcagctgctggag
gtggaactctacgcagactatagagagaactcgtacgtgccgaccactggagcgatcatt
gagatccacagcaagcgcatccagctgtatggagcctacctccgcatccacgcgcacttc
actgggctcagatacctgctatacaacttcccgatgacctgcgccttcataggtgttgcc
agcaacttcaccttcctcagcgtcatcgtgctcttcagctacatgcagtgggtgtggggg
ggcatctggccccgacaccgcttctctttgcaggttaacatccgaaaaagagacaattcc
cggaaggaagtccaacgaaggatctctgctcatcagccagggcctgaaggccaggaggag
tcaactccgcaatcagatgttacagaggatggtgagagccctgaagatccctcagggaca
gagggtcagctgtccgaggaggagaaaccagatcagcagcccctgagcggagaagaggag
ctagagcctgaggccagtgatggttcaggctcctgggaagatgcagctttgctgacggag
gccaacctgcctgctcctgctcctgcttctgcttctgcccctgtcctagagactctgggc
agctctgaacctgctgggggtgctctccgacagcgccccacctgctctagttcctga

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