KEGG   Homo sapiens (human): 26580Help
Entry
26580             CDS       T01001                                 

Gene name
BSCL2, GNG3LG, HMN5, PELD, SPG17
Definition
(RefSeq) BSCL2, seipin lipid droplet biogenesis associated
  KO
K19365  seipin
Organism
hsa  Homo sapiens (human)
Disease
H00266  Hereditary spastic paraplegia (SPG)
H00419  Congenital generalized lipodystrophy (CGL)
H00856  Distal hereditary motor neuropathies (dHMN)
SSDB OrthologParalogGFIT
Motif
Pfam: Seipin
Motif
Other DBs
NCBI-GeneID: 26580
NCBI-ProteinID: NP_116056
OMIM: 606158
HGNC: 15832
Ensembl: ENSG00000168000
Vega: OTTHUMG00000150624
Pharos: Q96G97(Tbio)
UniProt: Q96G97 A0A024R549
Position
11q12.3
AA seq 398 aa AA seqDB search
MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTV
SHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVN
QDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLE
VELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVA
SNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEE
STPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTE
ANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS
NT seq 1197 nt NT seq  +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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