Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q96G97 (BSCL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Seipin
Alternative name(s):
Bernardinelli-Seip congenital lipodystrophy type 2 protein
Gene names
Name:BSCL2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length398 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.11 Ref.12

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.7 Ref.8 Ref.9.

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. Ref.6 Ref.9 Ref.10

Involvement in disease

Congenital generalized lipodystrophy 2 (CGL2) [MIM:269700]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.10

Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the seipin family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96G97-2)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q96G97-3)

The sequence of this isoform differs from the canonical sequence as follows:
     225-287: YLLYNFPMTC...DNSRKEVQRR → LTSEKETIPG...PRRRNQISSP
     288-398: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96G97-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAM
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 398398Seipin
PRO_0000191679

Regions

Topological domain1 – 2626Cytoplasmic Potential
Transmembrane27 – 4721Helical; Potential
Topological domain48 – 242195Lumenal Potential
Transmembrane243 – 26321Helical; Potential
Topological domain264 – 398135Cytoplasmic Potential

Amino acid modifications

Glycosylation881N-linked (GlcNAc...) Ref.7
Glycosylation2421N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence11M → MSTEKVDQKEEAGEKEVCGD QIKGPDKEEEPPAAASHGQG WRPGGRAARNARPEPGARHP ALPAM in isoform 3.
VSP_044545
Alternative sequence225 – 28763YLLYN…EVQRR → LTSEKETIPGRKSNEGSLLI SQGLKARRSQLRNQMLQRMV RALKIPQGQRVSCPRRRNQI SSP in isoform 2.
VSP_051726
Alternative sequence288 – 398111Missing in isoform 2.
VSP_051727
Natural variant881N → S in SPG17 and HMN5A; does not affect protein subcellular location. Ref.7 Ref.10
VAR_022375
Natural variant901S → L in SPG17 and HMN5A; does not affect the function in lipid storage. Ref.7 Ref.12
VAR_022376
Natural variant2121A → P in CGL2; increases localization to nuclear envelope. Ref.6 Ref.9
VAR_022377

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 24, 2009. Version 3.
Checksum: 9FB1B37E72493DB9

FASTA39844,392
        10         20         30         40         50         60 
MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG SFYYSYMPTV 

        70         80         90        100        110        120 
SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL MYGQPYRVTL ELELPESPVN 

       130        140        150        160        170        180 
QDLGMFLVTI SCYTRGGRII STSSRSVMLH YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE 

       190        200        210        220        230        240 
VELYADYREN SYVPTTGAII EIHSKRIQLY GAYLRIHAHF TGLRYLLYNF PMTCAFIGVA 

       250        260        270        280        290        300 
SNFTFLSVIV LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGPEGQEE 

       310        320        330        340        350        360 
STPQSDVTED GESPEDPSGT EGQLSEEEKP DQQPLSGEEE LEPEASDGSG SWEDAALLTE 

       370        380        390 
ANLPAPAPAS ASAPVLETLG SSEPAGGALR QRPTCSSS 

« Hide

Isoform 2 [UniParc].

Checksum: 674512CF110B8382
Show »

FASTA28732,654
Isoform 3 [UniParc].

Checksum: 2DBDD5A48366AF48
Show »

FASTA46251,159

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Retinoblastoma and Teratocarcinoma.
[2]Yu W., Sarginson J., Gibbs R.A.
Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Kidney, Lung, Pancreas and Pituitary.
[6]"Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13."
Magre J., Delepine M., Khallouf E., Gedde-Dahl T. Jr., Van Maldergem L., Sobel E., Papp J., Meier M., Megarbane A., Bachy A., Verloes A., d'Abronzo F.H., Seemanova E., Assan R., Baudic N., Bourut C., Czernichow P., Huet F. expand/collapse author list , Grigorescu F., de Kerdanet M., Lacombe D., Labrune P., Lanza M., Loret H., Matsuda F., Navarro J., Nivelon-Chevalier A., Polak M., Robert J.J., Tric P., Tubiana-Rufi N., Vigouroux C., Weissenbach J., Savasta S., Maassen J.A., Trygstad O., Bogalho P., Freitas P., Medina J.L., Bonnicci F., Joffe B.I., Loyson G., Panz V.R., Raal F.J., O'Rahilly S., Stephenson T., Kahn C.R., Lathrop M., Capeau J.
Nat. Genet. 28:365-370(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, VARIANT CGL2 PRO-212.
[7]"Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome."
Windpassinger C., Auer-Grumbach M., Irobi J., Patel H., Petek E., Hoerl G., Malli R., Reed J.A., Dierick I., Verpoorten N., Warner T.T., Proukakis C., Van den Bergh P., Verellen C., Van Maldergem L., Merlini L., De Jonghe P., Timmerman V., Crosby A.H., Wagner K.
Nat. Genet. 36:271-276(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-88, VARIANTS SPG17 AND HMN5A SER-88 AND LEU-90.
[8]"Membrane topology of the human seipin protein."
Lundin C., Nordstrom R., Wagner K., Windpassinger C., Andersson H., von Heijne G., Nilsson I.
FEBS Lett. 580:2281-2284(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TOPOLOGY.
[9]"The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation."
Payne V.A., Grimsey N., Tuthill A., Virtue S., Gray S.L., Dalla Nora E., Semple R.K., O'Rahilly S., Rochford J.J.
Diabetes 57:2055-2060(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT PRO-212.
[10]"Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17."
Ito D., Fujisawa T., Iida H., Suzuki N.
Neurobiol. Dis. 31:266-277(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, CHARACTERIZATION OF VARIANT SPG17 SER-88.
[11]"Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy."
Boutet E., El Mourabit H., Prot M., Nemani M., Khallouf E., Colard O., Maurice M., Durand-Schneider A.M., Chretien Y., Gres S., Wolf C., Saulnier-Blache J.S., Capeau J., Magre J.
Biochimie 91:796-803(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[12]"Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation."
Tian Y., Bi J., Shui G., Liu Z., Xiang Y., Liu Y., Wenk M.R., Yang H., Huang X.
PLoS Genet. 7:E1001364-E1001364(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANT LEU-90.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK027524 mRNA. Translation: BAB55175.1.
AK075317 mRNA. Translation: BAC11543.1.
AF052149 mRNA. No translation available.
CH471076 Genomic DNA. Translation: EAW74070.1.
CH471076 Genomic DNA. Translation: EAW74074.1.
AP001458 Genomic DNA. No translation available.
BC004911 mRNA. Translation: AAH04911.1.
BC012140 mRNA. Translation: AAH12140.1.
BC041640 mRNA. Translation: AAH41640.1.
BC093048 mRNA. Translation: AAH93048.1.
RefSeqNP_001116427.1. NM_001122955.3.
NP_001124174.2. NM_001130702.2.
NP_116056.3. NM_032667.6.
UniGeneHs.533709.

3D structure databases

ProteinModelPortalQ96G97.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117749. 6 interactions.
IntActQ96G97. 5 interactions.
MINTMINT-1452482.
STRING9606.ENSP00000354032.

PTM databases

PhosphoSiteQ96G97.

Polymorphism databases

DMDM269849705.

Proteomic databases

PaxDbQ96G97.
PRIDEQ96G97.

Protocols and materials databases

DNASU26580.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000278893; ENSP00000278893; ENSG00000168000. [Q96G97-3]
ENST00000360796; ENSP00000354032; ENSG00000168000. [Q96G97-4]
ENST00000403550; ENSP00000385561; ENSG00000168000. [Q96G97-2]
ENST00000407022; ENSP00000384080; ENSG00000168000. [Q96G97-2]
ENST00000421906; ENSP00000413209; ENSG00000168000. [Q96G97-2]
ENST00000433053; ENSP00000414002; ENSG00000168000. [Q96G97-4]
GeneID26580.
KEGGhsa:26580.
UCSCuc001nup.3. human. [Q96G97-2]
uc001nur.4. human.
uc009yoc.2. human. [Q96G97-3]

Organism-specific databases

CTD26580.
GeneCardsGC11M062457.
HGNCHGNC:15832. BSCL2.
HPAHPA042394.
MIM269700. phenotype.
270685. phenotype.
600794. phenotype.
606158. gene.
neXtProtNX_Q96G97.
Orphanet100998. Autosomal dominant spastic paraplegia type 17.
528. Berardinelli-Seip congenital lipodystrophy.
139536. Distal hereditary motor neuropathy type 5.
363400. Severe neurodegenerative syndrome with lipodystrophy.
PharmGKBPA25432.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG316839.
HOGENOMHOG000220875.
HOVERGENHBG050736.
PhylomeDBQ96G97.
TreeFamTF314000.

Gene expression databases

BgeeQ96G97.
CleanExHS_BSCL2.
GenevestigatorQ96G97.

Family and domain databases

InterProIPR009617. Adipose-reg_protein_Seipin.
[Graphical view]
PfamPF06775. Seipin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBSCL2. human.
GeneWikiBSCL2.
GenomeRNAi26580.
NextBio48934.
PROQ96G97.
SOURCESearch...

Entry information

Entry nameBSCL2_HUMAN
AccessionPrimary (citable) accession number: Q96G97
Secondary accession number(s): G3XAE4 expand/collapse secondary AC list , Q567S1, Q96SV1, Q9BSQ0
Entry history
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: November 24, 2009
Last modified: April 16, 2014
This is version 106 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM