LMPD Database

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LMP006786

UniProt Annotations

Entry Information
Gene NameBerardinelli-Seip congenital lipodystrophy 2 (seipin)
Protein EntryQ96G97_HUMAN
UniProt IDQ96G97
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=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. ;
DiseaseCongenital generalized lipodystrophy 2 (CGL2) [MIM
DiseaseNeuronopathy, distal hereditary motor, 5A (HMN5A) [MIM
DiseaseSpastic paraplegia 17, autosomal dominant (SPG17) [MIM
FunctionIs 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
SimilarityBelongs to the seipin family.
Subcellular LocationEndoplasmic reticulum membrane {ECO
Tissue SpecificityExpressed 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