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Q96G97

- BSCL2_HUMAN

UniProt

Q96G97 - BSCL2_HUMAN

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Protein

Seipin

Gene
BSCL2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. fat cell differentiation Source: UniProtKB
  3. lipid catabolic process Source: UniProtKB-KW
  4. lipid particle organization Source: UniProtKB
  5. lipid storage Source: UniProtKB
  6. negative regulation of lipid catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Lipid degradation, Lipid metabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Seipin
Alternative name(s):
Bernardinelli-Seip congenital lipodystrophy type 2 protein
Gene namesi
Name:BSCL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:15832. BSCL2.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein 3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2626Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei27 – 4721Helical; Reviewed predictionAdd
BLAST
Topological domaini48 – 242195Lumenal Reviewed predictionAdd
BLAST
Transmembranei243 – 26321Helical; Reviewed predictionAdd
BLAST
Topological domaini264 – 398135Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of endoplasmic reticulum membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti212 – 2121A → P in CGL2; increases localization to nuclear envelope. 2 Publications
VAR_022377
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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti88 – 881N → S in SPG17 and HMN5A; does not affect protein subcellular location. 2 Publications
VAR_022375
Natural varianti90 – 901S → L in SPG17 and HMN5A; does not affect the function in lipid storage. 2 Publications
VAR_022376
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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti88 – 881N → S in SPG17 and HMN5A; does not affect protein subcellular location. 2 Publications
VAR_022375
Natural varianti90 – 901S → L in SPG17 and HMN5A; does not affect the function in lipid storage. 2 Publications
VAR_022376

Keywords - Diseasei

Congenital generalized lipodystrophy, Diabetes mellitus, Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MIMi269700. phenotype.
270685. phenotype.
600794. phenotype.
Orphaneti100998. Autosomal dominant spastic paraplegia type 17.
528. Berardinelli-Seip congenital lipodystrophy.
139536. Distal hereditary motor neuropathy type 5.
363400. Severe neurodegenerative syndrome with lipodystrophy.
PharmGKBiPA25432.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 398398SeipinPRO_0000191679Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi88 – 881N-linked (GlcNAc...)1 Publication
Glycosylationi242 – 2421N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ96G97.
PaxDbiQ96G97.
PRIDEiQ96G97.

PTM databases

PhosphoSiteiQ96G97.

Expressioni

Tissue specificityi

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.3 Publications

Gene expression databases

BgeeiQ96G97.
CleanExiHS_BSCL2.
GenevestigatoriQ96G97.

Organism-specific databases

HPAiHPA042394.

Interactioni

Protein-protein interaction databases

BioGridi117749. 6 interactions.
IntActiQ96G97. 5 interactions.
MINTiMINT-1452482.
STRINGi9606.ENSP00000354032.

Structurei

3D structure databases

ProteinModelPortaliQ96G97.

Family & Domainsi

Sequence similaritiesi

Belongs to the seipin family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG316839.
HOGENOMiHOG000220875.
HOVERGENiHBG050736.
PhylomeDBiQ96G97.
TreeFamiTF314000.

Family and domain databases

InterProiIPR009617. Adipose-reg_protein_Seipin.
[Graphical view]
PfamiPF06775. Seipin. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96G97-2) [UniParc]FASTAAdd to Basket

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.

« Hide

MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG    50
SFYYSYMPTV SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL 100
MYGQPYRVTL ELELPESPVN QDLGMFLVTI SCYTRGGRII STSSRSVMLH 150
YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE VELYADYREN SYVPTTGAII 200
EIHSKRIQLY GAYLRIHAHF TGLRYLLYNF PMTCAFIGVA SNFTFLSVIV 250
LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGPEGQEE 300
STPQSDVTED GESPEDPSGT EGQLSEEEKP DQQPLSGEEE LEPEASDGSG 350
SWEDAALLTE ANLPAPAPAS ASAPVLETLG SSEPAGGALR QRPTCSSS 398
Length:398
Mass (Da):44,392
Last modified:November 24, 2009 - v3
Checksum:i9FB1B37E72493DB9
GO
Isoform 2 (identifier: Q96G97-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:287
Mass (Da):32,654
Checksum:i674512CF110B8382
GO
Isoform 3 (identifier: Q96G97-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAM

Note: No experimental confirmation available.

Show »
Length:462
Mass (Da):51,159
Checksum:i2DBDD5A48366AF48
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti88 – 881N → S in SPG17 and HMN5A; does not affect protein subcellular location. 2 Publications
VAR_022375
Natural varianti90 – 901S → L in SPG17 and HMN5A; does not affect the function in lipid storage. 2 Publications
VAR_022376
Natural varianti212 – 2121A → P in CGL2; increases localization to nuclear envelope. 2 Publications
VAR_022377

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MSTEKVDQKEEAGEKEVCGD QIKGPDKEEEPPAAASHGQG WRPGGRAARNARPEPGARHP ALPAM in isoform 3. VSP_044545
Alternative sequencei225 – 28763YLLYN…EVQRR → LTSEKETIPGRKSNEGSLLI SQGLKARRSQLRNQMLQRMV RALKIPQGQRVSCPRRRNQI SSP in isoform 2. VSP_051726Add
BLAST
Alternative sequencei288 – 398111Missing in isoform 2. VSP_051727Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS44627.1. [Q96G97-4]
CCDS55769.1. [Q96G97-3]
CCDS8031.1. [Q96G97-2]
RefSeqiNP_001116427.1. NM_001122955.3. [Q96G97-4]
NP_001124174.2. NM_001130702.2. [Q96G97-3]
NP_116056.3. NM_032667.6. [Q96G97-2]
UniGeneiHs.533709.

Genome annotation databases

EnsembliENST00000278893; 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]
GeneIDi26580.
KEGGihsa:26580.
UCSCiuc001nup.3. human. [Q96G97-2]
uc001nur.4. human.
uc009yoc.2. human. [Q96G97-3]

Polymorphism databases

DMDMi269849705.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS44627.1. [Q96G97-4 ]
CCDS55769.1. [Q96G97-3 ]
CCDS8031.1. [Q96G97-2 ]
RefSeqi NP_001116427.1. NM_001122955.3. [Q96G97-4 ]
NP_001124174.2. NM_001130702.2. [Q96G97-3 ]
NP_116056.3. NM_032667.6. [Q96G97-2 ]
UniGenei Hs.533709.

3D structure databases

ProteinModelPortali Q96G97.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117749. 6 interactions.
IntActi Q96G97. 5 interactions.
MINTi MINT-1452482.
STRINGi 9606.ENSP00000354032.

PTM databases

PhosphoSitei Q96G97.

Polymorphism databases

DMDMi 269849705.

Proteomic databases

MaxQBi Q96G97.
PaxDbi Q96G97.
PRIDEi Q96G97.

Protocols and materials databases

DNASUi 26580.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000278893 ; 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 ]
GeneIDi 26580.
KEGGi hsa:26580.
UCSCi uc001nup.3. human. [Q96G97-2 ]
uc001nur.4. human.
uc009yoc.2. human. [Q96G97-3 ]

Organism-specific databases

CTDi 26580.
GeneCardsi GC11M062457.
GeneReviewsi BSCL2.
HGNCi HGNC:15832. BSCL2.
HPAi HPA042394.
MIMi 269700. phenotype.
270685. phenotype.
600794. phenotype.
606158. gene.
neXtProti NX_Q96G97.
Orphaneti 100998. Autosomal dominant spastic paraplegia type 17.
528. Berardinelli-Seip congenital lipodystrophy.
139536. Distal hereditary motor neuropathy type 5.
363400. Severe neurodegenerative syndrome with lipodystrophy.
PharmGKBi PA25432.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG316839.
HOGENOMi HOG000220875.
HOVERGENi HBG050736.
PhylomeDBi Q96G97.
TreeFami TF314000.

Miscellaneous databases

ChiTaRSi BSCL2. human.
GeneWikii BSCL2.
GenomeRNAii 26580.
NextBioi 48934.
PROi Q96G97.
SOURCEi Search...

Gene expression databases

Bgeei Q96G97.
CleanExi HS_BSCL2.
Genevestigatori Q96G97.

Family and domain databases

InterProi IPR009617. Adipose-reg_protein_Seipin.
[Graphical view ]
Pfami PF06775. Seipin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. 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. Cited for: TISSUE SPECIFICITY, VARIANT CGL2 PRO-212.
  7. Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-88, VARIANTS SPG17 AND HMN5A SER-88 AND LEU-90.
  8. 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.

Entry informationi

Entry nameiBSCL2_HUMAN
AccessioniPrimary (citable) accession number: Q96G97
Secondary accession number(s): G3XAE4
, Q567S1, Q96SV1, Q9BSQ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: November 24, 2009
Last modified: July 9, 2014
This is version 108 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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