| Type | Description |
|---|---|
| Definition | BSCL2 lipid droplet biogenesis associated, seipin |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:34:00 | SEIPIN: A Key Factor for Nuclear Lipid Droplet Generation and Lipid Homeostasis. | 33147895 |
| 2021-02-13 13:29:00 | Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligationdependent probe amplification in an infant with congenital generalized lipodystrophy. | 32236581 |
| 2020-12-05 12:57:00 | Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation. | 32094408 |
| 2020-05-16 12:21:00 | These results suggest that seipin supports the formation of structurally uniform endoplasmic reticulum lipid droplet (LD) contacts and facilitates the delivery of triglycerides from endoplasmic reticulum to LD. This counteracts ripening-induced shrinkage of small LD. | 31178403 |
| 2020-01-25 13:56:00 | Seven mutations in BSCL2 were found among congenital generalized lipodystrophy patients, in which splice site mutation c.404+1G > T, nonsense mutation c.402C > G, and frameshift mutation c.759_760delGA were novel. | 30266686 |
| Type | IDs |
|---|---|
| Synonymous | GNG3LG, HMN5, PELD, SPG17 |
| Gene |
UniProtKB-ID:
BSCL2_HUMAN,
A0A024R549_HUMAN,
A0A024R540_HUMAN
UniprotKB:
Q96G97,
A0A024R549,
A0A024R540
UniParc:
UPI0000070E80,
UPI0000140040,
UPI000005334B
EMBL:
BC012140,
KU178595,
BC041640,
CH471076,
BC093048,
AP001458,
AK075317,
BC004911,
AK027524,
AF052149
Ensembl:
ENSG00000168000
KO:
hsa:26580
|
| Nucleutide sequences |
EMBL-CDS:
BAC11543.1,
EAW74074.1,
AAH41640.1,
AAH93048.1,
AAH12140.1,
BAB55175.1,
EAW74070.1,
AAH04911.1,
EAW74075.1,
ALQ34053.1,
EAW74081.1,
EAW74080.1
Gene_ORFName:
hCG_2020143,
hCG_2020143
Ensembl_TRS:
ENST00000421906,
ENST00000407022,
ENST00000360796,
ENST00000278893,
ENST00000403550
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000354032,
ENSP00000385561,
ENSP00000413209,
ENSP00000384080,
ENSP00000278893
RefSeq:
NP_001372956.1,
NP_001116427.1,
NP_001124174.2,
NP_001372957.1,
NP_116056.3
|
| Others |
UniRef100:
UniRef100_Q96G97
UniRef90:
UniRef90_Q96G97
UniRef50:
UniRef50_Q96G97
UniGene:
Hs.533709
CCDS:
CCDS55769.1,
CCDS8031.1,
CCDS44627.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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