Details for: EPG5
Associated with
Other Information
Genular Protein ID: 1174510523
Symbol: EPG5_HUMAN
Name: Ectopic P granules protein 5 homolog
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16177791
Title: DNA sequence and analysis of human chromosome 18.
PubMed ID: 16177791
DOI: 10.1038/nature03983
PubMed ID: 10997877
Title: Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 10997877
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 20550938
Title: C. elegans screen identifies autophagy genes specific to multicellular organisms.
PubMed ID: 20550938
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 29130391
Title: The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.
PubMed ID: 29130391
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 23222957
Title: Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
PubMed ID: 23222957
DOI: 10.1038/ng.2497
PubMed ID: 25331754
Title: First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
PubMed ID: 25331754
DOI: 10.1002/ajmg.a.36772
PubMed ID: 26917586
Title: EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
PubMed ID: 26917586
DOI: 10.1093/brain/awv393
PubMed ID: 27343256
Title: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
PubMed ID: 27343256
DOI: 10.1093/brain/aww135
PubMed ID: 28168853
Title: Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.
PubMed ID: 28168853
DOI: 10.1002/ajmg.a.38061
Sequence Information:
- Length: 2579
- Mass: 292481
- Checksum: BE1179F6D4A1C6AB
- Sequence:
MAEAVKPQRR AKAKASRTKT KEKKKYETPQ REESSEVSLP KTSREQEIPS LACEFKGDHL KVVTDSQLQD DASGQNESEM FDVPLTSLTI SNEESLTCNT EPPKEGGEAR PCVGDSAVTP KVHPGDNVGT KVETPKNFTE VEENMSVQGG LSESAPQSNF SYTQPAMENI QVRETQNSKE DKQGLVCSSE VPQNVGLQSS CPAKHGFQTP RVKKLYPQLP AEIAGEAPAL VAVKPLLRSE RLYPELPSQL ELVPFTKEQL KILEPGSWLE NVESYLEEFD SMAHQDRHEF YELLLNYSRC RKQLLLAEAE LLTLTSDCQN AKSRLWQFKE EQMSVQGICA DQVKVFSYHR YQRVEMNENA LVELKKLFDA KSEHLHQTLA LHSYTSVLSR LQVESYIYAL LSSSAVLRSS AIHQQGRASK QTESIPSDLC QLKECISVLF MFTRRVNEDT QFHDDILLWL QKLVSVLQRV GCPGDHLFLL NHILRCPAGV SKWAVPFIQI KVLHNPSGVF HFMQSLALLM SPVKNRAEFM CHMKPSERKP SSSGPGSGTW TLVDEGGEED EDPETSWILL NEDDLVTILA QFPFHELFQH LLGFKAKGDY LPETTRPQEM MKIFAFANSL VELLAVGLET FNRARYRQFV KRIGYMIRMT LGYVSDHWAQ YVSHNQGSGL AQQPYSMEKL QVEFDELFLR AVLHVLKAKR LGIWLFMSEM PFGTLSVQML WKLFYLMHQV ESENLQQLSS SLQPAQCKQQ LQDPEHFTNF EKCLSSMNSS EEICLLTTFA QMAQARRTNV DEDFIKIIVL EIYEVSYVTL STRETFSKVG RELLGTITAV HPEIISVLLD RVQETIDQVG MVSLYLFKEL PLYLWQPSAS EIAVIRDWLL NYNLTVVKNK LACVILEGLN WGFAKQATLH LDQAVHAEVA LMVLEAYQKY LAQKPYAGIL SESMKQVSYL ASIVRYGETP ETSFNQWAWN LILRLKLHKN DYGIQPNCPA VPFSVTVPDM TESPTFHPLL KAVKAGMPIG CYLALSMTAV GHSIEKFCAE GIPLLGILVQ SRHLRTVVHV LDKILPLFYP CQYYLLKNEQ FLSHLLLFLH LDSGVPQGVT QQVTHKVAQH LTGASHGDNV KLLNSMIQAH ISVSTQPNEV GPVAVLEFWV QALISQHLWY REQPILFLMD HLCKAAFQLM QEDCIQKLLY QQHKNALGYH CDRSLLSSLV SWIVAGNITP SFVEGLATPT QVWFAWTVLN MESIFEEDSQ LRRVIEGELV INSAFTPDQA LKKAQTQLKL PIVPSLQRLL IYRWAHQALV TPSDHPLLPL IWQKFFLLYL HRPGPQYGLP IDGCIGRRFF QSPAHINLLK EMKRRLTEVA DFHHAASKAL RVPAEGSEGL PESHSGTPGY LTSPELHKEL VRLFNVYILW LEDENFQKGD TYIPSLPKHY DIHRLAKVMQ NQQDLWMEYL NMERIYHEFQ ETVGLWTQAK LESHSTPCSL SVQLDFTDPL LAKERVLSNL RKHEAPQPPL ALHPTKPPVP VISSAVLLSQ KDATQLVCTD LNLLQQQART AALRESQQVA LDGELLDTMP KQYVNREEQT TLHLECRGSS GKKCQGAAVV TVQFEGMHKN EAISQQLHVL RKEVKQLQAE AAKPPSLNIV EAAVHAENLI TALVNAYKLQ PTPGIQKVGI SLFFTIVDYV SDETQRHPPT RQFFTSCIEI LGQVFISGIK SECRKVLETI LKNSRLCSLL SPFFTPNAAP AEFIQLYEQV VKFLSEDNSD MIFMLLTKFD LKQWLSATKP PLSDRTRLLE SIHLALTAWG LEPDEDILMP FNLFCKHWTY LLLYQFPDQY SDILRLLMQS SAEQLLSPEC WKATLRALGC CAPSCQQGAA STEGAVLPSS SDALLSDKQV METIQWLSDF FYKLRLSKMD FKSFGLFSKW SPYMADVKTF LGYLVKRLID LEMTCLAQDP TASRKTVLKS LHSVIIQLFK PWILVLEDNE SSQQRHYPWL ESDTVVASSI VQLFTDCIDS LHESFKDKLL PGDAGALWLH LMHYCEACTA PKMPEFILYA FHSTYRKLPW KDLHPDQMLM EAFFKVERGS PKSCFLFLGS VLCEVNWVSV LSDAWNSSPH PETRSMIVCL LFMMILLAKE VQLVDQTDSP LLSLLGQTSS LSWHLVDIVS YQSVLSYFSS HYPPSIILAK ESYAELIMKL LKVSAGLSIP TDSQKHLDAV PKCQAFTHQM VQFLSTLEQN GKITLAVLEQ EMSKLLDDII VFNPPDMDSQ TRHMALSSLF MEVLMMMNNA TIPTAEFLRG SIRTWIGQKM HGLVVLPLLT AACQSLASVR HMAETTEACI TAYFKESPLN QNSGWGPILV SLQVPELTME EFLQECLTLG SYLTLYVYLL QCLNSEQTLR NEMKVLLILS KWLEQVYPSS VEEEAKLFLW WHQVLQLSLI QTEQNDSVLT ESVIRILLLV QSRQNLVAEE RLSSGILGAI GFGRKSPLSN RFRVVARSMA AFLSVQVPME DQIRLRPGSE LHLTPKAQQA LNALESMASS KQYVEYQDQI LQATQFIRHP GHCLQDGKSF LALLVNCLYP EVHYLDHIR
Genular Protein ID: 1299956239
Symbol: Q9BTI0_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 505
- Mass: 56906
- Checksum: C97A6A12BEEDFEBF
- Sequence:
KVERGSPKSC FLFLGSVLCE VNWVSVLSDA WNSSPHPETR SMIVCLLFMM ILLAKEVQLV DQTDSPLLSL LGQTSSLSWH LVDIVSYQSV LSYFSSHYPP SIILAKESYA ELIMKLLKVS AGLSIPTDSQ KHLDAVPKCQ AFTHQMVQFL STLEQNGKIT LAVLEQEMSK LLDDIIVFNP PDMDSQTRHM ALSSLFMEVL MMMNNATIPT AEFLRGSIRT WIGQKMHGLV VLPLLTAACQ SLASVRHMAE TTEACITAYF KESPLNQNSG WGPILVSLQV PELTMEEFLQ ECLTLGSYLT LYVYLLQCLN SEQTLRNEMK VLLILSKWLE QVYPSSVEEE AKLFLWWHQV LQLSLIQTEQ NDSVLTESVI RILLLVQSRQ NLVAEERLSS GILGAIGFGR KSPLSNRFRV VARSMAAFLS VQVPMEDQIR LRPGSELHLT PKAQQALNAL ESMASSKQYV EYQDQILQAT QFIRHPGHCL QDGKSFLALL VNCLYPEVHY LDHIR
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.