KEGG T01001: 26580

Homo sapiens (human): 26580

Entry

26580 CDS T01001

Gene name

BSCL2, GNG3LG, HMN5, SPG17

Definition

Berardinelli-Seip congenital lipodystrophy 2 (seipin)

Organism

hsa Homo sapiens (human)

Disease

H00266	Hereditary spastic paraplegia (SPG)
H00419	Congenital generalized lipodystrophy (CGL)
H00856	Distal hereditary motor neuropathies (dHMN)

Class

SSDB

Motif

Pfam:

Seipin

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

11q13

AA seq 462 aa
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHP
ALPAMVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSY
MPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPE
SPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQK
QLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAF
IGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPE
GQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAA
LLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS

NT seq 1389 nt +upstreamnt +downstreamnt
atgtctacagaaaaggtagaccaaaaggaggaagctggggaaaaagaggtgtgcggagac
cagatcaaaggaccggacaaagaggaggaaccaccagctgctgcatcccatggccagggg
tggcgtccaggtggcagagcagctaggaacgcaaggcctgaacctggggccagacaccct
gctctcccggccatggtcaacgaccctccagtacctgccttactgtgggcccaggaggtg
ggccaagtcttggcaggccgtgcccgcaggctgctgctgcagtttggggtgctcttctgc
accatcctccttttgctctgggtgtctgtcttcctctatggctccttctactattcctat
atgccgacagtcagccacctcagccctgtgcatttctactacaggaccgactgtgattcc
tccaccacctcactctgctccttccctgttgccaatgtctcgctgactaagggtggacgt
gatcgggtgctgatgtatggacagccgtatcgtgttaccttagagcttgagctgccagag
tcccctgtgaatcaagatttgggcatgttcttggtcaccatttcctgctacaccagaggt
ggccgaatcatctccacttcttcgcgttcggtgatgctgcattaccgctcagacctgctc
cagatgctggacacactggtcttctctagcctcctgctatttggctttgcagagcagaag
cagctgctggaggtggaactctacgcagactatagagagaactcgtacgtgccgaccact
ggagcgatcattgagatccacagcaagcgcatccagctgtatggagcctacctccgcatc
cacgcgcacttcactgggctcagatacctgctatacaacttcccgatgacctgcgccttc
ataggtgttgccagcaacttcaccttcctcagcgtcatcgtgctcttcagctacatgcag
tgggtgtgggggggcatctggccccgacaccgcttctctttgcaggttaacatccgaaaa
agagacaattcccggaaggaagtccaacgaaggatctctgctcatcagccagggcctgaa
ggccaggaggagtcaactccgcaatcagatgttacagaggatggtgagagccctgaagat
ccctcagggacagagggtcagctgtccgaggaggagaaaccagatcagcagcccctgagc
ggagaagaggagctagagcctgaggccagtgatggttcaggctcctgggaagatgcagct
ttgctgacggaggccaacctgcctgctcctgctcctgcttctgcttctgcccctgtccta
gagactctgggcagctctgaacctgctgggggtgctctccgacagcgccccacctgctct
agttcctga

All links

Ontology (1)   
   KEGG BRITE (1)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   NCBI-Gene (1)   
   NCBI-GI (10)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   RefSeq(pep) (3)   
DNA sequence (43)   
   RefSeq(nuc) (5)   
   GenBank (19)   
   EMBL (19)   
Protein domain (1)   
   Pfam (1)   
All databases (74)   

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