Property Summary

NCBI Gene PubMed Count 41
Grant Count 55
R01 Count 39
Funding $4,220,905
PubMed Score 87.18
PubTator Score 45.67

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9ULV0 B0I1R3 Q0P656 Q9H6Y6
Symbols

Gene

PDB

4J5M   4LNZ   4LWZ   4LX0  

Gene RIF (29)

PMID Text
26650627 Three novel genes were identified as recurrently mutated; MYCN, MYO5B and VCL, and mutations in these genes were exclusively found in malignant sympathetic paraganglioma tumors.
26553929 GLUT5 required an interaction cascade of Rab11, Myo5B, Slp4a, Munc18-2, and Vamp7 with Stx3.
25258405 Report changes in polarized signaling resulting from Myo5b loss-of-function mutations in microvillus inclusion disease.
24892806 Microvilli establishment required interaction between RAB8A and MYO5B, while loss of the interaction between RAB11A and MYO5B induced microvillus inclusions.
24413175 Part of the machinery for ezrin activation depends on recycling endosomes controlled by myosin Vb and Rab11a.
24375397 Cholestasis in microvillus inclusion disease results from impairment of the MYO5B/RAB11A apical recycling endosome pathway in hepatocytes, altered targeting of bile export pump to the canalicular membrane, and increased ileal bile acid absorption.
24373531 MYO5B-rs555879 is a risk factor for dyslexia in a German cohort.
24339992 Structural insights into the globular tails of the human type v myosins Myo5a, Myo5b, And Myo5c.
24248336 several crystal structures of the myosin Va or the myosin Vb globular tail domain that gives insights into how the motor is linked to the recycling membrane compartments via Rab11 or the melanophilin adaptor that binds to Rab27a.
24138727 Loss of MYO5b causes loss of apical microvilli, formation of inclusion bodies an protein trafficking defects in CaCo2 cells.
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AA Sequence

MSVGELYSQCTRVWIPDPDEVWRSAELTKDYKEGDKSLQLRLEDETILEYPIDVQRNQLPFLRNPDILVG      1 - 70
ENDLTALSYLHEPAVLHNLKVRFLESNHIYTYCGIVLVAINPYEQLPIYGQDVIYTYSGQNMGDMDPHIF     71 - 140
AVAEEAYKQMARDEKNQSIIVSGESGAGKTVSAKYAMRYFATVGGSASETNIEEKVLASSPIMEAIGNAK    141 - 210
TTRNDNSSRFGKYIQIGFDKRYHIIGANMRTYLLEKSRVVFQADDERNYHIFYQLCAAAGLPEFKELALT    211 - 280
SAEDFFYTSQGGDTSIEGVDDAEDFEKTRQAFTLLGVKESHQMSIFKIIASILHLGSVAIQAERDGDSCS    281 - 350
ISPQDVYLSNFCRLLGVEHSQMEHWLCHRKLVTTSETYVKTMSLQQVINARNALAKHIYAQLFGWIVEHI    351 - 420
NKALHTSLKQHSFIGVLDIYGFETFEVNSFEQFCINYANEKLQQQFNSHVFKLEQEEYMKEQIPWTLIDF    421 - 490
YDNQPCIDLIEAKLGILDLLDEECKVPKGTDQNWAQKLYDRHSSSQHFQKPRMSNTAFIIVHFADKVEYL    491 - 560
SDGFLEKNRDTVYEEQINILKASKFPLVADLFHDDKDPVPATTPGKGSSSKISVRSARPPMKVSNKEHKK    561 - 630
TVGHQFRTSLHLLMETLNATTPHYVRCIKPNDEKLPFHFDPKRAVQQLRACGVLETIRISAAGYPSRWAY    631 - 700
HDFFNRYRVLVKKRELANTDKKAICRSVLENLIKDPDKFQFGRTKIFFRAGQVAYLEKLRADKFRTATIM    701 - 770
IQKTVRGWLQKVKYHRLKGATLTLQRYCRGHLARRLAEHLRRIRAAVVLQKHYRMQRARQAYQRVRRAAV    771 - 840
VIQAFTRAMFVRRTYRQVLMEHKATTIQKHVRGWMARRHFQRLRDAAIVIQCAFRMLKARRELKALRIEA    841 - 910
RSAEHLKRLNVGMENKVVQLQRKIDEQNKEFKTLSEQLSVTTSTYTMEVERLKKELVHYQQSPGEDTSLR    911 - 980
LQEEVESLRTELQRAHSERKILEDAHSREKDELRKRVADLEQENALLKDEKEQLNNQILCQSKDEFAQNS    981 - 1050
VKENLMKKELEEERSRYQNLVKEYSQLEQRYDNLRDEMTIIKQTPGHRRNPSNQSSLESDSNYPSISTSE   1051 - 1120
IGDTEDALQQVEEIGLEKAAMDMTVFLKLQKRVRELEQERKKLQVQLEKREQQDSKKVQAEPPQTDIDLD   1121 - 1190
PNADLAYNSLKRQELESENKKLKNDLNELRKAVADQATQNNSSHGSPDSYSLLLNQLKLAHEELEVRKEE   1191 - 1260
VLILRTQIVSADQRRLAGRNAEPNINARSSWPNSEKHVDQEDAIEAYHGVCQTNSKTEDWGYLNEDGELG   1261 - 1330
LAYQGLKQVARLLEAQLQAQSLEHEEEVEHLKAQLEALKEEMDKQQQTFCQTLLLSPEAQVEFGVQQEIS   1331 - 1400
RLTNENLDLKELVEKLEKNERKLKKQLKIYMKKAQDLEAAQALAQSERKRHELNRQVTVQRKEKDFQGML   1401 - 1470
EYHKEDEALLIRNLVTDLKPQMLSGTVPCLPAYILYMCIRHADYTNDDLKVHSLLTSTINGIKKVLKKHN   1471 - 1540
DDFEMTSFWLSNTCRLLHCLKQYSGDEGFMTQNTAKQNEHCLKNFDLTEYRQVLSDLSIQIYQQLIKIAE   1541 - 1610
GVLQPMIVSAMLENESIQGLSGVKPTGYRKRSSSMADGDNSYCLEAIIRQMNAFHTVMCDQGLDPEIILQ   1611 - 1680
VFKQLFYMINAVTLNNLLLRKDVCSWSTGMQLRYNISQLEEWLRGRNLHQSGAVQTMEPLIQAAQLLQLK   1681 - 1750
KKTQEDAEAICSLCTSLSTQQIVKILNLYTPLNEFEERVTVAFIRTIQAQLQERNDPQQLLLDAKHMFPV   1751 - 1820
LFPFNPSSLTMDSIHIPACLNLEFLNEV                                             1821 - 1848
//

Text Mined References (47)

PMID Year Title
26650627 2016 Malignant pheochromocytomas/paragangliomas harbor mutations in transport and cell adhesion genes.
26553929 2015 Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3.
25416956 2014 A proteome-scale map of the human interactome network.
25258405 2014 Myosin 5b loss of function leads to defects in polarized signaling: implication for microvillus inclusion disease pathogenesis and treatment.
24892806 2014 Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.
24413175 2014 Myosin Vb and Rab11a regulate phosphorylation of ezrin in enterocytes.
24375397 2014 MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.
24373531 2014 Genetic risk variants for dyslexia on chromosome 18 in a German cohort.
24339992 2013 Structural insights into the globular tails of the human type v myosins Myo5a, Myo5b, And Myo5c.
24248336 2013 Structural basis of myosin V Rab GTPase-dependent cargo recognition.
More...