Gene/Proteome Database (LMPD)

LMPD ID
LMP006786
Gene ID
26580
Species
Homo sapiens (Human)
Gene Name
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Gene Symbol
BSCL2
Synonyms
GNG3LG; HMN5; PELD; SPG17
Chromosome
11
Map Location
11q13
Summary
This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
Orthologs
View orthologs and multiple alignments for BSCL2

Proteins

seipin isoform 1
Refseq ID NP_001116427
Protein GI 171906569
UniProt ID Q96G97
mRNA ID NM_001122955
Length 462
RefSeq Status REVIEWED
MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAMVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS
seipin isoform 2
Refseq ID NP_116056
Protein GI 40068505
UniProt ID Q96G97
mRNA ID NM_032667
Length 398
RefSeq Status REVIEWED
MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS
seipin isoform 3
Refseq ID NP_001124174
Protein GI 325974509
UniProt ID Q96G97
mRNA ID NM_001130702
Length 287
RefSeq Status REVIEWED
MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRLTSEKETIPGRKSNEGSLLISQGLKARRSQLRNQMLQRMVRALKIPQGQRVSCPRRRNQISSP

Gene Information

Entrez Gene ID
26580
Gene Name
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Gene Symbol
BSCL2
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0030176 IDA:UniProtKB C integral component of endoplasmic reticulum membrane
GO:0008219 IEA:UniProtKB-KW P cell death
GO:0045444 ISS:UniProtKB P fat cell differentiation
GO:0016042 IEA:UniProtKB-KW P lipid catabolic process
GO:0034389 IMP:UniProtKB P lipid particle organization
GO:0019915 IMP:UniProtKB P lipid storage
GO:0050995 ISS:UniProtKB P negative regulation of lipid catabolic process

Domain Information

InterPro Annotations

Accession Description
IPR009617 Adipose-regulatory protein, Seipin

UniProt Annotations

Entry Information

Gene Name
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Protein Entry
Q96G97_HUMAN
UniProt ID
Q96G97
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96G97-2; Sequence=Displayed; Name=2; IsoId=Q96G97-3; Sequence=VSP_051726, VSP_051727; Note=No experimental confirmation available. ; Name=3; IsoId=Q96G97-4; Sequence=VSP_044545; Note=No experimental confirmation available. ;
Disease Congenital generalized lipodystrophy 2 (CGL2) [MIM
Disease Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM
Disease Spastic paraplegia 17, autosomal dominant (SPG17) [MIM
Function Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues. {ECO
Similarity Belongs to the seipin family.
Subcellular Location Endoplasmic reticulum membrane {ECO
Tissue Specificity Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level). Highly expressed in brain, testis and adipose tissue. {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP006786 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
171906569 RefSeq NP_001116427 462 seipin isoform 1
40068505 RefSeq NP_116056 398 seipin isoform 2
325974509 RefSeq NP_001124174 287 seipin isoform 3

Identical Sequences to LMP006786 proteins

Reference Database Accession Length Protein Name
GI:325974509 DBBJ BAB55175.1 287 unnamed protein product [Homo sapiens]
GI:325974509 EMBL CAE89300.1 287 unnamed protein product [Homo sapiens]
GI:171906569 GenBank EAW74074.1 462 hCG2020143, isoform CRA_d [Homo sapiens]
GI:325974509 GenBank EAW74078.1 287 hCG2020143, isoform CRA_e [Homo sapiens]
GI:171906569 GenBank EAW74080.1 462 hCG2020143, isoform CRA_d [Homo sapiens]
GI:171906569 GenBank EAW74081.1 462 hCG2020143, isoform CRA_d [Homo sapiens]
GI:171906569 GenBank AEX18376.1 462 Sequence 40 from patent US 8084200
GI:40068505 GenBank AHD72484.1 398 Sequence 9552 from patent US 8586006
GI:40068505 GenBank AIC56198.1 398 BSCL2, partial [synthetic construct]
GI:40068505 GenBank AIC63365.1 398 BSCL2, partial [synthetic construct]
GI:40068505 GenBank AIC63366.1 398 BSCL2, partial [synthetic construct]
GI:171906569 RefSeq XP_004051406.1 462 PREDICTED: seipin isoform 1 [Gorilla gorilla gorilla]
GI:40068505 RefSeq XP_004051407.1 398 PREDICTED: seipin isoform 2 [Gorilla gorilla gorilla]
GI:325974509 RefSeq XP_004051408.1 287 PREDICTED: seipin isoform 3 [Gorilla gorilla gorilla]
GI:40068505 SwissProt Q96G97.3 398 RecName: Full=Seipin; AltName: Full=Bernardinelli-Seip congenital lipodystrophy type 2 protein [Homo sapiens]

Related Sequences to LMP006786 proteins

Reference Database Accession Length Protein Name
GI:325974509 EMBL CAI93437.1 398 unnamed protein product [Homo sapiens]
GI:325974509 GenBank AAH04911.1 398 BSCL2 protein [Homo sapiens]
GI:325974509 GenBank AAH12140.1 398 BSCL2 protein [Homo sapiens]
GI:40068505 GenBank EAW74074.1 462 hCG2020143, isoform CRA_d [Homo sapiens]
GI:40068505 GenBank EAW74080.1 462 hCG2020143, isoform CRA_d [Homo sapiens]
GI:40068505 GenBank EAW74081.1 462 hCG2020143, isoform CRA_d [Homo sapiens]
GI:40068505 GenBank AEX18376.1 462 Sequence 40 from patent US 8084200
GI:171906569 GenBank JAA00694.1 462 Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Pan troglodytes]
GI:171906569 GenBank JAA17119.1 462 Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Pan troglodytes]
GI:171906569 GenBank JAA26223.1 462 Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Pan troglodytes]
GI:171906569 GenBank JAA43468.1 462 heterogeneous nuclear ribonucleoprotein U-like 2 [Pan troglodytes]
GI:325974509 GenBank AHD72484.1 398 Sequence 9552 from patent US 8586006
GI:40068505 RefSeq NP_001116427.1 462 seipin isoform 1 [Homo sapiens]
GI:325974509 RefSeq XP_003274141.1 356 PREDICTED: seipin [Nomascus leucogenys]
GI:171906569 RefSeq XP_003313147.1 462 PREDICTED: seipin isoform X2 [Pan troglodytes]
GI:40068505 RefSeq XP_004051406.1 462 PREDICTED: seipin isoform 1 [Gorilla gorilla gorilla]
GI:325974509 RefSeq XP_004413832.1 287 PREDICTED: seipin isoform 3 [Odobenus rosmarus divergens]
GI:171906569 RefSeq XP_009421560.1 462 PREDICTED: seipin isoform X2 [Pan troglodytes]