1.R.2.1.4
Intermembrane lipid transfer protein, VPS13B, of 4022 aas. Mediates the transfer of lipids between membranes at organelle contact sites and binds phosphatidylinositol 3-phosphate.
It functions
as a tethering factor in the slow endocytic recycling pathway, to
assist traffic between early and recycling endosomes (Koike and Jahn 2019, Duplomb et al. 2014, Lee et al. 2020). It is involved in the transport of proacrosomal vesicles to the nuclear dense lamina (NDL) during spermatid development, and plays a role in the assembly of the Golgi apparatus, possibly by mediating trafficking to the Golgi membrane (Seifert et al. 2011). It plays a role in the development of the nervous system, and may be required for neuron projection development (Seifert et al. 2015, Lee et al. 2020). The pathologic mechanism underlying the expansion of the neurodevelopmental spectrum in Cohen syndrome (CS) due to mutations in VPS13B, highlight the importance of Golgi and Golgi-membrane-related proteins in the development of neurodevelopmental syndromes associated with early-onset non-channelopathy epilepsy (AbdelAleem et al. 2023). Variants can cause neurodevelopmental disorders (Afridi et al. 2024).
|
| Accession Number: | Q7Z7G8 |
|---|
| Protein Name: | Intermembrane lipid transfer protein VPS13B |
|---|
| Length: | 4022 |
|---|
| Molecular Weight: | 448664.00 |
|---|
| Species: | Homo sapiens (Human) [9606] |
|---|
| Location1 / Topology2 / Orientation3: |
Recycling endosome membrane1 / Peripheral membrane protein2 |
|---|
| Substrate |
|
|---|
1: MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE LKLPFTFLSG
61: HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH ESCGSNSTNR STAESTKSSI
121: KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN VNIVINNLIL KYVEDDIVLS VNITSAECYT
181: VGELWDRAFM DISATDLVLR KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF
241: TYENLNSKMP SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL
301: TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW SFVPAIVSYD
361: DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT FKLTEMQVES SYYSPQKVKS
421: KEVLCWEQEG TTVEALMMGE PFFDCQIGFV GCRAMCLKGI MGVKDFEENM NRSETEACFF
481: ICGDNLSTKG FTYLTNSLFD YRSPENNGTR AEFILDSTHH KETYTEIAGM QRFGAFYMDY
541: LYTMENTSGK GSTNQQDFSS GKSEDLGTVQ EKSTKSLVIG PLDFRLDSSA VHRILKMIVC
601: ALEHEYEPYS RLKSDIKDEN ETILNPEEVA LLEEYIPTRH TSVTLLKCTC TISMAEFNLL
661: DHLLPVIMGE KNSSNFMNTT NFQSLRPLPS IRILVDKINL EHSVPMYAEQ LVHVVSSLTQ
721: PSDNLLHYCY VHCYLKIFGF QAGLTSLDCS GSYCLPVPVI PSFSTALYGK LLKLPTCWTK
781: RSQIAITEGI FELPNLTIQA TRAQTLLLQA IYQSWSHLGN VSSSAVIEAL INEIFLSIGV
841: KSKNPLPTLE GSIQNVELKY CSTSLVKCAS GTMGSIKICA KAPVDSGKEK LIPLLQGPSD
901: TKDLHSTKWL NESRKPESLL APDLMAFTIQ VPQYIDYCHN SGAVLLCSIQ GLAVNIDPIL
961: YTWLIYQPQK RTSRHMQQQP VVAVPLVMPV CRRKEDEVSI GSAPLAKQQS YQASEYASSP
1021: VKTKTVTESR PLSVPVKAML NISESCRSPE ERMKEFIGIV WNAVKHLTLQ LEVQSCCVFI
1081: PNDSLPSPST IVSGDIPGTV RSWYHGQTSM PGTLVLCLPQ IKIISAGHKY MEPLQEIPFV
1141: IPRPILEEGD AFPWTISLHN FSIYTLLGKQ VTLCLVEPMG CTSTLAVTSQ KLLATGPDTR
1201: HSFVVCLHVD LESLEIKCSN PQVQLFYELT DIMNKVWNKI QKRGNLNLSP TSPETMAGPV
1261: PTSPVRSSIG TAPPDTSTCS PSADIGTTTE GDSIQAGEES PFSDSVTLEQ TTSNIGGTSG
1321: RVSLWMQWVL PKITIKLFAP DPENKGTEVC MVSELEDLSA SIDVQDVYTK VKCKIESFNI
1381: DHYRSSLGEE CWSLGQCGGV FLSCTDKLNR RTLLVRPISK QDPFSNCSGF FPSTTTKLLD
1441: GTHQQHGFLS LTYTKAVTKN VRHKLTSRNE RRSFHKLSEG LMDGSPHFLH EILLSAQAFD
1501: IVLYFPLLNA IASIFQAKLP KTQKEKRKSP GQPMRTHTLT SRNLPLIYVN TSVIRIFIPK
1561: TEEMQPTVEA NQAAKEDTVV LKIGSVAMAP QADNPLGRSV LRKDIYQRAL NLGILRDPGS
1621: EIEDRQYQID LQSINIGTAQ WHQLKPEKES VSGGVVTETE RNSQNPALEW NMASSIRRHQ
1681: ERRAILTPVL TDFSVRITGA PAVIFTKVVS PENLHTEEIL VCGHSLEVNI TTNLDFFLSV
1741: AQVQLLHQLI VANMTGLEPS NKAAEISKQE QKKVDIFDGG MAETSSRYSG AQDSGIGSDS
1801: VKIRIVQIEQ HSGASQHRIA RPSRQSSIVK NLNFIPFDIF ITASRISLMT YSCMALSKSK
1861: SQEQKNNEKT DKSSLNLPEV DSDVAKPNQA CISTVTAEDL LRSSISFPSG KKIGVLSLES
1921: LHASTRSSAR QALGITIVRQ PGRRGTGDLQ LEPFLYFIVS QPSLLLSCHH RKQRVEVSIF
1981: DAVLKGVASD YKCIDPGKTL PEALDYCTVW LQTVPGEIDS KSGIPPSFIT LQIKDFLNGP
2041: ADVNLDISKP LKANLSFTKL DQINLFLKKI KNAHSLAHSE ETSAMSNTMV NKDDLPVSKY
2101: YRGKLSKPKI HGDGVQKISA QENMWRAVSC FQKISVQTTQ IVISMETVPH TSKPCLLASL
2161: SNLNGSLSVK ATQKVPGIIL GSSFLLSIND FLLKTSLKER SRILIGPCCA TANLEAKWCK
2221: HSGNPGPEQS IPKISIDLRG GLLQVFWGQE HLNCLVLLHE LLNGYLNEEG NFEVQVSEPV
2281: PQMSSPVEKN QTFKSEQSSD DLRTGLFQYV QDAESLKLPG VYEVLFYNET EDCPGMMLWR
2341: YPEPRVLTLV RITPVPFNTT EDPDISTADL GDVLQVPCSL EYWDELQKVF VAFREFNLSE
2401: SKVCELQLPD INLVNDQKKL VSSDLWRIVL NSSQNGADDQ SSASESGSQS TCDPLVTPTA
2461: LAACTRVDSC FTPWFVPSLC VSFQFAHLEF HLCHHLDQLG TAAPQYLQPF VSDRNMPSEL
2521: EYMIVSFREP HMYLRQWNNG SVCQEIQFLA QADCKLLECR NVTMQSVVKP FSIFGQMAVS
2581: SDVVEKLLDC TVIVDSVFVN LGQHVVHSLN TAIQAWQQNK CPEVEELVFS HFVICNDTQE
2641: TLRFGQVDTD ENILLASLHS HQYSWRSHKS PQLLHICIEG WGNWRWSEPF SVDHAGTFIR
2701: TIQYRGRTAS LIIKVQQLNG VQKQIIICGR QIICSYLSQS IELKVVQHYI GQDGQAVVRE
2761: HFDCLTAKQK LPSYILENNE LTELCVKAKG DEDWSRDVCL ESKAPEYSIV IQVPSSNSSI
2821: IYVWCTVLTL EPNSQVQQRM IVFSPLFIMR SHLPDPIIIH LEKRSLGLSE TQIIPGKGQE
2881: KPLQNIEPDL VHHLTFQARE EYDPSDCAVP ISTSLIKQIA TKVHPGGTVN QILDEFYGPE
2941: KSLQPIWPYN KKDSDRNEQL SQWDSPMRVK LSIWKPYVRT LLIELLPWAL LINESKWDLW
3001: LFEGEKIVLQ VPAGKIIIPP NFQEAFQIGI YWANTNTVHK SVAIKLVHNL TSPKWKDGGN
3061: GEVVTLDEEA FVDTEIRLGA FPGHQKLCQF CISSMVQQGI QIIQIEDKTT IINNTPYQIF
3121: YKPQLSVCNP HSGKEYFRVP DSATFSICPG GEQPAMKSSS LPCWDLMPDI SQSVLDASLL
3181: QKQIMLGFSP APGADSSQCW SLPAIVRPEF PRQSVAVPLG NFRENGFCTR AIVLTYQEHL
3241: GVTYLTLSED PSPRVIIHNR CPVKMLIKEN IKDIPKFEVY CKKIPSECSI HHELYHQISS
3301: YPDCKTKDLL PSLLLRVEPL DEVTTEWSDA IDINSQGTQV VFLTGFGYVY VDVVHQCGTV
3361: FITVAPEGKA GPILTNTNRA PEKIVTFKMF ITQLSLAVFD DLTHHKASAE LLRLTLDNIF
3421: LCVAPGAGPL PGEEPVAALF ELYCVEICCG DLQLDNQLYN KSNFHFAVLV CQGEKAEPIQ
3481: CSKMQSLLIS NKELEEYKEK CFIKLCITLN EGKSILCDIN EFSFELKPAR LYVEDTFVYY
3541: IKTLFDTYLP NSRLAGHSTH LSGGKQVLPM QVTQHARALV NPVKLRKLVI QPVNLLVSIH
3601: ASLKLYIASD HTPLSFSVFE RGPIFTTARQ LVHALAMHYA AGALFRAGWV VGSLDILGSP
3661: ASLVRSIGNG VADFFRLPYE GLTRGPGAFV SGVSRGTTSF VKHISKGTLT SITNLATSLA
3721: RNMDRLSLDE EHYNRQEEWR RQLPESLGEG LRQGLSRLGI SLLGAIAGIV DQPMQNFQKT
3781: SEAQASAGHK AKGVISGVGK GIMGVFTKPI GGAAELVSQT GYGILHGAGL SQLPKQRHQP
3841: SDLHADQAPN SHVKYVWKML QSLGRPEVHM ALDVVLVRGS GQEHEGCLLL TSEVLFVVSV
3901: SEDTQQQAFP VTEIDCAQDS KQNNLLTVQL KQPRVACDVE VDGVRERLSE QQYNRLVDYI
3961: TKTSCHLAPS CSSMQIPCPV VAAEPPPSTV KTYHYLVDPH FAQVFLSKFT MVKNKALRKG
4021: FP