Gene name: PNPLA1

Uniprot entry:

Q8N8W4

Protein names:

Omega-hydroxyceramide transacylase (EC 2.3.1.296) (Patatin-like phospholipase domain-containing protein 1)

Protein sequence:

1_MEEQV 6_ FKGDP 11_ DTPHS 16_ ISFSG 21_ SGFLS 26_ FYQAG 31_ AVDAL 36_ RDLAP 41_ RMLET 46_ AHRFA 51_ GTSAG 56_ AVIAA 61_ LAICG 66_ IEMDE 71_ YLRVL 76_ NVGVA 81_ EVKKS 86_ FLGPL 91_ SPSCK 96_ MVQMM 101_ RQFLY 106_ RVLPE 111_ DSYKV 116_ TTGKL 121_ HVSLT 126_ RLTDG 131_ ENVVV 136_ SEFTS 141_ KEELI 146_ EALYC 151_ SCFVP 156_ VYCGL 161_ IPPTY 166_ RGVRY 171_ IDGGF 176_ TGMQP 181_ CAFWT 186_ DAITI 191_ STFSG 196_ QQDIC 201_ PRDCP 206_ AIFHD 211_ FRMFN 216_ CSFQF 221_ SLENI 226_ ARMTH 231_ ALFPP 236_ DLVIL 241_ HDYYY 246_ RGYED 251_ AVLYL 256_ RRLNA 261_ VYLNS 266_ SSKRV 271_ IFPRV 276_ EVYCQ 281_ IELAL 286_ GNECP 291_ ERSQP 296_ SLRAR 301_ QASLE 306_ GATQP 311_ HKEWV 316_ PKGDG 321_ RGSHG 326_ PPVSQ 331_ PVQTL 336_ EFTCE 341_ SPVSA 346_ PVSPL 351_ EQPPA 356_ QPLAS 361_ STPLS 366_ LSGMP 371_ PVSFP 376_ AVHKP 381_ PSSTP 386_ GSSLP 391_ TPPPG 396_ LSPLS 401_ PQQQV 406_ QPSGS 411_ PARSL 416_ HSQAP 421_ TSPRP 426_ SLGPS 431_ TVGAP 436_ QTLPR 441_ SSLSA 446_ FPAQP 451_ PVEEL 456_ GQEQP 461_ QAVAL 466_ LVSSK 471_ PKSAV 476_ PLVHV 481_ KETVS 486_ KPYVT 491_ ESPAE 496_ DSNWV 501_ NKVFK 506_ KNKQK 511_ TSGTR 516_ KGFPR 521_ HSGSK 526_KPSSK

Protein annotations

Protein functions:

1: Omega-hydroxyceramide transacylase involved in the synthesis of omega-O-acylceramides (esterified omega-hydroxyacyl-sphingosine; EOS), which are extremely hydrophobic lipids involved in skin barrier formation (PubMed:27751867, PubMed:28248318). Catalyzes the last step of the synthesis of omega-O-acylceramides by transferring linoleic acid from triglycerides to an omega-hydroxyceramide (PubMed:27751867, PubMed:28248318). Omega-O-acylceramides, are required for the biogenesis of lipid lamellae in the stratum corneum and the formation of the cornified lipid envelope which are essential for the epidermis barrier function (PubMed:22246504, PubMed:27751867, PubMed:28248318). These lipids also play a role in keratinocyte differentiation (By similarity). May also act on omega-hydroxylated ultra-long chain fatty acids (omega-OH ULCFA) and acylglucosylceramides (GlcEOS) (By similarity)