InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BSCL2

Summary

InnateDB Protein

IDBP-51629.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BSCL2

Protein Name

Berardinelli-Seip congenital lipodystrophy 2 (seipin)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000278893

InnateDB Gene

IDBG-51625 (BSCL2)

Protein Structure

UniProt Annotation

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}.

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}.

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.

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}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function

Biological Process

GO:0008219	cell death
GO:0016042	lipid catabolic process
GO:0019915	lipid storage
GO:0034389	lipid particle organization
GO:0045444	fat cell differentiation
GO:0050995	negative regulation of lipid catabolic process