InnateDB Protein
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IDBP-295360.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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BSCL2
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Protein Name
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Berardinelli-Seip congenital lipodystrophy 2 (seipin)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000385561
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InnateDB Gene
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IDBG-51625 (BSCL2)
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Protein Structure
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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:0000250, ECO:0000269PubMed:19278620, ECO:0000269PubMed:21533227}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000269PubMed:14981520, ECO:0000269PubMed:16574104, ECO:0000269PubMed:18458148}; Multi-pass membrane protein {ECO:0000269PubMed:14981520, ECO:0000269PubMed:16574104, ECO:0000269PubMed:18458148}.
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Disease Associations |
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. {ECO:0000269PubMed:11479539}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.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. {ECO:0000269PubMed:14981520}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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:0000269PubMed:11479539, ECO:0000269PubMed:18458148, ECO:0000269PubMed:18585921}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
9
[view]
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Protein-Protein |
9
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
GO:0030176
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integral component of endoplasmic reticulum membrane
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PDB ID |
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InterPro |
IPR009617
Adipose-regulatory protein, Seipin
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PFAM |
PF06775
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96G97
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PhosphoSite |
PhosphoSite-Q96G97
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TrEMBL |
F8W7Q8
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UniProt Splice Variant |
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Entrez Gene |
26580
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UniGene |
Hs.732344
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RefSeq |
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HUGO |
HGNC:15832
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OMIM |
606158
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CCDS |
CCDS8031
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HPRD |
05858
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IMGT |
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EMBL |
AF052149
AK027524
AK075317
AP001458
BC004911
BC012140
BC041640
BC093048
CH471076
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GenPept |
AAH04911
AAH12140
AAH41640
AAH93048
BAB55175
BAC11543
EAW74070
EAW74074
EAW74075
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