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

Gene name
BSCL2, GNG3LG, HMN5, PELD, SPG17
Definition
(RefSeq) Berardinelli-Seip congenital lipodystrophy 2 (seipin)
  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: 
Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
11q13
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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