Gene name: ABCA4

Uniprot entry:

P78363

Protein names:

Retinal-specific phospholipid-transporting ATPase ABCA4 (EC 7.6.2.1) (ATP-binding cassette sub-family A member 4) (RIM ABC transporter) (RIM proteinv) (RmP) (Retinal-specific ATP-binding cassette transporter) (Stargardt disease protein)

Protein sequence:

1_MGFVR 6_ QIQLL 11_ LWKNW 16_ TLRKR 21_ QKIRF 26_ VVELV 31_ WPLSL 36_ FLVLI 41_ WLRNA 46_ NPLYS 51_ HHECH 56_ FPNKA 61_ MPSAG 66_ MLPWL 71_ QGIFC 76_ NVNNP 81_ CFQSP 86_ TPGES 91_ PGIVS 96_ NYNNS 101_ ILARV 106_ YRDFQ 111_ ELLMN 116_ APESQ 121_ HLGRI 126_ WTELH 131_ ILSQF 136_ MDTLR 141_ THPER 146_ IAGRG 151_ IRIRD 156_ ILKDE 161_ ETLTL 166_ FLIKN 171_ IGLSD 176_ SVVYL 181_ LINSQ 186_ VRPEQ 191_ FAHGV 196_ PDLAL 201_ KDIAC 206_ SEALL 211_ ERFII 216_ FSQRR 221_ GAKTV 226_ RYALC 231_ SLSQG 236_ TLQWI 241_ EDTLY 246_ ANVDF 251_ FKLFR 256_ VLPTL 261_ LDSRS 266_ QGINL 271_ RSWGG 276_ ILSDM 281_ SPRIQ 286_ EFIHR 291_ PSMQD 296_ LLWVT 301_ RPLMQ 306_ NGGPE 311_ TFTKL 316_ MGILS 321_ DLLCG 326_ YPEGG 331_ GSRVL 336_ SFNWY 341_ EDNNY 346_ KAFLG 351_ IDSTR 356_ KDPIY 361_ SYDRR 366_ TTSFC 371_ NALIQ 376_ SLESN 381_ PLTKI 386_ AWRAA 391_ KPLLM 396_ GKILY 401_ TPDSP 406_ AARRI 411_ LKNAN 416_ STFEE 421_ LEHVR 426_ KLVKA 431_ WEEVG 436_ PQIWY 441_ FFDNS 446_ TQMNM 451_ IRDTL 456_ GNPTV 461_ KDFLN 466_ RQLGE 471_ EGITA 476_ EAILN 481_ FLYKG 486_ PRESQ 491_ ADDMA 496_ NFDWR 501_ DIFNI 506_ TDRTL 511_ RLVNQ 516_ YLECL 521_ VLDKF 526_ ESYND 531_ ETQLT 536_ QRALS 541_ LLEEN 546_ MFWAG 551_ VVFPD 556_ MYPWT 561_ SSLPP 566_ HVKYK 571_ IRMDI 576_ DVVEK 581_ TNKIK 586_ DRYWD 591_ SGPRA 596_ DPVED 601_ FRYIW 606_ GGFAY 611_ LQDMV 616_ EQGIT 621_ RSQVQ 626_ AEAPV 631_ GIYLQ 636_ QMPYP 641_ CFVDD 646_ SFMII 651_ LNRCF 656_ PIFMV 661_ LAWIY 666_ SVSMT 671_ VKSIV 676_ LEKEL 681_ RLKET 686_ LKNQG 691_ VSNAV 696_ IWCTW 701_ FLDSF 706_ SIMSM 711_ SIFLL 716_ TIFIM 721_ HGRIL 726_ HYSDP 731_ FILFL 736_ FLLAF 741_ STATI 746_ MLCFL 751_ LSTFF 756_ SKASL 761_ AAACS 766_ GVIYF 771_ TLYLP 776_ HILCF 781_ AWQDR 786_ MTAEL 791_ KKAVS 796_ LLSPV 801_ AFGFG 806_ TEYLV 811_ RFEEQ 816_ GLGLQ 821_ WSNIG 826_ NSPTE 831_ GDEFS 836_ FLLSM 841_ QMMLL 846_ DAAVY 851_ GLLAW 856_ YLDQV 861_ FPGDY 866_ GTPLP 871_ WYFLL 876_ QESYW 881_ LGGEG 886_ CSTRE 891_ ERALE 896_ KTEPL 901_ TEETE 906_ DPEHP 911_ EGIHD 916_ SFFER 921_ EHPGW 926_ VPGVC 931_ VKNLV 936_ KIFEP 941_ CGRPA 946_ VDRLN 951_ ITFYE 956_ NQITA 961_ FLGHN 966_ GAGKT 971_ TTLSI 976_ LTGLL 981_ PPTSG 986_ TVLVG 991_ GRDIE 996_ TSLDA 1001_ VRQSL 1006_ GMCPQ 1011_ HNILF 1016_ HHLTV 1021_ AEHML 1026_ FYAQL 1031_ KGKSQ 1036_ EEAQL 1041_ EMEAM 1046_ LEDTG 1051_ LHHKR 1056_ NEEAQ 1061_ DLSGG 1066_ MQRKL 1071_ SVAIA 1076_ FVGDA 1081_ KVVIL 1086_ DEPTS 1091_ GVDPY 1096_ SRRSI 1101_ WDLLL 1106_ KYRSG 1111_ RTIIM 1116_ STHHM 1121_ DEADL 1126_ LGDRI 1131_ AIIAQ 1136_ GRLYC 1141_ SGTPL 1146_ FLKNC 1151_ FGTGL 1156_ YLTLV 1161_ RKMKN 1166_ IQSQR 1171_ KGSEG 1176_ TCSCS 1181_ SKGFS 1186_ TTCPA 1191_ HVDDL 1196_ TPEQV 1201_ LDGDV 1206_ NELMD 1211_ VVLHH 1216_ VPEAK 1221_ LVECI 1226_ GQELI 1231_ FLLPN 1236_ KNFKH 1241_ RAYAS 1246_ LFREL 1251_ EETLA 1256_ DLGLS 1261_ SFGIS 1266_ DTPLE 1271_ EIFLK 1276_ VTEDS 1281_ DSGPL 1286_ FAGGA 1291_ QQKRE 1296_ NVNPR 1301_ HPCLG 1306_ PREKA 1311_ GQTPQ 1316_ DSNVC 1321_ SPGAP 1326_ AAHPE 1331_ GQPPP 1336_ EPECP 1341_ GPQLN 1346_ TGTQL 1351_ VLQHV 1356_ QALLV 1361_ KRFQH 1366_ TIRSH 1371_ KDFLA 1376_ QIVLP 1381_ ATFVF 1386_ LALML 1391_ SIVIP 1396_ PFGEY 1401_ PALTL 1406_ HPWIY 1411_ GQQYT 1416_ FFSMD 1421_ EPGSE 1426_ QFTVL 1431_ ADVLL 1436_ NKPGF 1441_ GNRCL 1446_ KEGWL 1451_ PEYPC 1456_ GNSTP 1461_ WKTPS 1466_ VSPNI 1471_ TQLFQ 1476_ KQKWT 1481_ QVNPS 1486_ PSCRC 1491_ STREK 1496_ LTMLP 1501_ ECPEG 1506_ AGGLP 1511_ PPQRT 1516_ QRSTE 1521_ ILQDL 1526_ TDRNI 1531_ SDFLV 1536_ KTYPA 1541_ LIRSS 1546_ LKSKF 1551_ WVNEQ 1556_ RYGGI 1561_ SIGGK 1566_ LPVVP 1571_ ITGEA 1576_ LVGFL 1581_ SDLGR 1586_ IMNVS 1591_ GGPIT 1596_ REASK 1601_ EIPDF 1606_ LKHLE 1611_ TEDNI 1616_ KVWFN 1621_ NKGWH 1626_ ALVSF 1631_ LNVAH 1636_ NAILR 1641_ ASLPK 1646_ DRSPE 1651_ EYGIT 1656_ VISQP 1661_ LNLTK 1666_ EQLSE 1671_ ITVLT 1676_ TSVDA 1681_ VVAIC 1686_ VIFSM 1691_ SFVPA 1696_ SFVLY 1701_ LIQER 1706_ VNKSK 1711_ HLQFI 1716_ SGVSP 1721_ TTYWV 1726_ TNFLW 1731_ DIMNY 1736_ SVSAG 1741_ LVVGI 1746_ FIGFQ 1751_ KKAYT 1756_ SPENL 1761_ PALVA 1766_ LLLLY 1771_ GWAVI 1776_ PMMYP 1781_ ASFLF 1786_ DVPST 1791_ AYVAL 1796_ SCANL 1801_ FIGIN 1806_ SSAIT 1811_ FILEL 1816_ FENNR 1821_ TLLRF 1826_ NAVLR 1831_ KLLIV 1836_ FPHFC 1841_ LGRGL 1846_ IDLAL 1851_ SQAVT 1856_ DVYAR 1861_ FGEEH 1866_ SANPF 1871_ HWDLI 1876_ GKNLF 1881_ AMVVE 1886_ GVVYF 1891_ LLTLL 1896_ VQRHF 1901_ FLSQW 1906_ IAEPT 1911_ KEPIV 1916_ DEDDD 1921_ VAEER 1926_ QRIIT 1931_ GGNKT 1936_ DILRL 1941_ HELTK 1946_ IYPGT 1951_ SSPAV 1956_ DRLCV 1961_ GVRPG 1966_ ECFGL 1971_ LGVNG 1976_ AGKTT 1981_ TFKML 1986_ TGDTT 1991_ VTSGD 1996_ ATVAG 2001_ KSILT 2006_ NISEV 2011_ HQNMG 2016_ YCPQF 2021_ DAIDE 2026_ LLTGR 2031_ EHLYL 2036_ YARLR 2041_ GVPAE 2046_ EIEKV 2051_ ANWSI 2056_ KSLGL 2061_ TVYAD 2066_ CLAGT 2071_ YSGGN 2076_ KRKLS 2081_ TAIAL 2086_ IGCPP 2091_ LVLLD 2096_ EPTTG 2101_ MDPQA 2106_ RRMLW 2111_ NVIVS 2116_ IIREG 2121_ RAVVL 2126_ TSHSM 2131_ EECEA 2136_ LCTRL 2141_ AIMVK 2146_ GAFRC 2151_ MGTIQ 2156_ HLKSK 2161_ FGDGY 2166_ IVTMK 2171_ IKSPK 2176_ DDLLP 2181_ DLNPV 2186_ EQFFQ 2191_ GNFPG 2196_ SVQRE 2201_ RHYNM 2206_ LQFQV 2211_ SSSSL 2216_ ARIFQ 2221_ LLLSH 2226_ KDSLL 2231_ IEEYS 2236_ VTQTT 2241_ LDQVF 2246_ VNFAK 2251_ QQTES 2256_ HDLPL 2261_ HPRAA 2266_GASRQ

Protein annotations

Protein functions:

1: Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (N-Ret-PE) from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where 11-cis-retinylidene-phosphatidylethanolamine is then isomerized to its all-trans isomer and reduced by RDH8 to produce all-trans-retinol. This transport activity ensures that all-trans-retinal generated from photoexcitation and 11-cis-retinal not needed for the regeneration of rhodopsin and cone opsins are effectively cleared from the photoreceptors, therefore preventing their accumulation and the formation of toxic bisretinoid (PubMed:10075733, PubMed:20404325, PubMed:22735453, PubMed:23144455, PubMed:24097981, PubMed:29847635, PubMed:33375396). Displays ATPase activity in vitro in absence of retinal substrate (PubMed:33605212, PubMed:39128720, PubMed:29847635, PubMed:33375396). May display GTPase activity that is strongly influenced by the lipid environment and the presence of retinoid compounds (PubMed:22735453). Binds the unprotonated form of N-retinylidene-phosphatidylethanolamine with high affinity in the absence of ATP, and ATP binding and hydrolysis induce a protein conformational change that causes N-retinylidene-phosphatidylethanolamine release (By similarity)