Gene name: BSCL2

Uniprot entry:

Q96G97

Protein names:

Seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein)

Protein sequence:

1_MVNDP 6_ PVPAL 11_ LWAQE 16_ VGQVL 21_ AGRAR 26_ RLLLQ 31_ FGVLF 36_ CTILL 41_ LLWVS 46_ VFLYG 51_ SFYYS 56_ YMPTV 61_ SHLSP 66_ VHFYY 71_ RTDCD 76_ SSTTS 81_ LCSFP 86_ VANVS 91_ LTKGG 96_ RDRVL 101_ MYGQP 106_ YRVTL 111_ ELELP 116_ ESPVN 121_ QDLGM 126_ FLVTI 131_ SCYTR 136_ GGRII 141_ STSSR 146_ SVMLH 151_ YRSDL 156_ LQMLD 161_ TLVFS 166_ SLLLF 171_ GFAEQ 176_ KQLLE 181_ VELYA 186_ DYREN 191_ SYVPT 196_ TGAII 201_ EIHSK 206_ RIQLY 211_ GAYLR 216_ IHAHF 221_ TGLRY 226_ LLYNF 231_ PMTCA 236_ FIGVA 241_ SNFTF 246_ LSVIV 251_ LFSYM 256_ QWVWG 261_ GIWPR 266_ HRFSL 271_ QVNIR 276_ KRDNS 281_ RKEVQ 286_ RRISA 291_ HQPGP 296_ EGQEE 301_ STPQS 306_ DVTED 311_ GESPE 316_ DPSGT 321_ EGQLS 326_ EEEKP 331_ DQQPL 336_ SGEEE 341_ LEPEA 346_ SDGSG 351_ SWEDA 356_ ALLTE 361_ ANLPA 366_ PAPAS 371_ ASAPV 376_ LETLG 381_ SSEPA 386_ GGALR 391_QRPTC

Protein annotations

Protein functions:

1: Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:19278620, PubMed:21533227, PubMed:30293840, PubMed:31708432). In association with LDAF1, defines the sites of LD formation in the ER (PubMed:31708432). Also required for growth and maturation of small nascent LDs into larger mature LDs (PubMed:27564575). Mediates the formation and/or stabilization of endoplasmic reticulum-lipid droplets (ER-LD) contacts, facilitating protein and lipid delivery from the ER into growing LDs (PubMed:27879284, PubMed:31178403). Regulates the maturation of ZFYVE1-positive nascent LDs and the function of the RAB18-ZFYVE1 complex in mediating the formation of ER-LD contacts (PubMed:30970241). Binds anionic phospholipids including phosphatidic acid (PubMed:30293840). Plays an important role in the differentiation and development of adipocytes (By similarity)