Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

GO_REF:0000033

Annotation inferences using phylogenetic trees

GO_REF:0000044

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

GO_REF:0000120

Combined Automated Annotation using Multiple IEA Methods

PMID:14981520

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Seipin is an integral ER membrane protein; N88S/S90L variants affect glycosylation and aggregate formation.

PMID:16189514

Towards a proteome-scale map of the human protein-protein interaction network.

The study maps human protein interactions, and GOA assigns two seipin partner edges to it.

PMID:19278620

Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.

Seipin-deficient human patient cells have altered droplet size, number and triglyceride content, distinct from AGPAT2-deficient controls.

PMID:25416956

A proteome-scale map of the human interactome network.

The human interaction map is the source for two seeded seipin interaction assertions.

PMID:27564575

Seipin is required for converting nascent to mature lipid droplets.

Seipin supports conversion of nascent lipid structures into mature droplets, with fly experiments and separate human deficiency models.

PMID:27748422

Seipin deficiency alters brown adipose tissue thermogenesis and insulin sensitivity in a non-cell autonomous mode.

Mouse seipin deficiency impairs cold-adaptive thermogenesis largely through non-cell-autonomous mechanisms in this study.

PMID:27879284

Seipin regulates ER-lipid droplet contacts and cargo delivery.

Human seipin concentrates at ER–LD contacts and supports lipid/protein cargo delivery during droplet growth.

PMID:30293840

Human SEIPIN Binds Anionic Phospholipids.

Human seipin forms an oligomer and binds anionic phospholipids through full-length and lumenal-domain constructs.

PMID:30901948

Promethin Is a Conserved Seipin Partner Protein.

Promethin/LDAF1 associates with seipin in mammalian-cell co-isolation experiments.

PMID:30970241

The ER-Localized Protein DFCP1 Modulates ER-Lipid Droplet Contact Formation.

DFCP1 and Rab18-associated machinery regulate ER–LD contacts, with BSCL2 required for maturation of nascent structures.

PMID:31178403

Seipin Facilitates Triglyceride Flow to Lipid Droplet and Counteracts Droplet Ripening via Endoplasmic Reticulum Contact.

Seipin-defined ER contacts support triglyceride delivery and counteract droplet-size heterogeneity.

PMID:31708432

LDAF1 and Seipin Form a Lipid Droplet Assembly Complex.

LDAF1 and seipin form an assembly complex that determines nascent droplet sites, with seipin remaining at ER contacts during growth.

PMID:22269949

Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation.

Mouse Bscl2 loss preserves early adipocyte differentiation but impairs terminal differentiation through excessive lipolysis; lipolysis inhibitors largely rescue the cultured-cell phenotype.