Homo sapiens (human): 26580
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Entry
26580 CDS
T01001
Symbol
BSCL2, GNG3LG, HMN5, HMN5C, HMND13, 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
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
26580 (BSCL2)
Membrane trafficking [BR:
hsa04131
]
Others
Specific organelles associated proteins
Lipid droplets
26580 (BSCL2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Seipin
Motif
Other DBs
NCBI-GeneID:
26580
NCBI-ProteinID:
NP_116056
OMIM:
606158
HGNC:
15832
Ensembl:
ENSG00000168000
UniProt:
Q96G97
A0A024R549
Structure
PDB
PDBj
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All DBs
Position
11:complement(62690262..62709537)
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AA seq
398 aa
AA seq
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MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTV
SHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVN
QDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLE
VELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVA
SNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEE
STPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTE
ANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS
NT seq
1197 nt
NT seq
+upstream
nt +downstream
nt
atggtcaacgaccctccagtacctgccttactgtgggcccaggaggtgggccaagtcttg
gcaggccgtgcccgcaggctgctgctgcagtttggggtgctcttctgcaccatcctcctt
ttgctctgggtgtctgtcttcctctatggctccttctactattcctatatgccgacagtc
agccacctcagccctgtgcatttctactacaggaccgactgtgattcctccaccacctca
ctctgctccttccctgttgccaatgtctcgctgactaagggtggacgtgatcgggtgctg
atgtatggacagccgtatcgtgttaccttagagcttgagctgccagagtcccctgtgaat
caagatttgggcatgttcttggtcaccatttcctgctacaccagaggtggccgaatcatc
tccacttcttcgcgttcggtgatgctgcattaccgctcagacctgctccagatgctggac
acactggtcttctctagcctcctgctatttggctttgcagagcagaagcagctgctggag
gtggaactctacgcagactatagagagaactcgtacgtgccgaccactggagcgatcatt
gagatccacagcaagcgcatccagctgtatggagcctacctccgcatccacgcgcacttc
actgggctcagatacctgctatacaacttcccgatgacctgcgccttcataggtgttgcc
agcaacttcaccttcctcagcgtcatcgtgctcttcagctacatgcagtgggtgtggggg
ggcatctggccccgacaccgcttctctttgcaggttaacatccgaaaaagagacaattcc
cggaaggaagtccaacgaaggatctctgctcatcagccagggcctgaaggccaggaggag
tcaactccgcaatcagatgttacagaggatggtgagagccctgaagatccctcagggaca
gagggtcagctgtccgaggaggagaaaccagatcagcagcccctgagcggagaagaggag
ctagagcctgaggccagtgatggttcaggctcctgggaagatgcagctttgctgacggag
gccaacctgcctgctcctgctcctgcttctgcttctgcccctgtcctagagactctgggc
agctctgaacctgctgggggtgctctccgacagcgccccacctgctctagttcctga
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