MYO5B
entrez
4645
canonical
uniprot
Q9ULV0
canonical
ensembl
ENSG00000167306
resolver
ensp
ENSP00000285039
resolver
genesymbol
MYO5B
resolver
genesymbol_syn
KIAA1119
resolver
hgnc
HGNC:7603
resolver
uniprot
B0I1R3
resolver
uniprot
Q0P656
resolver
uniprot
Q7Z7A5
resolver
uniprot
Q9H6Y6
resolver
uniprot_entry
MYO5B_HUMAN
resolver
uniprot_entry
Q7Z7A5_HUMAN
resolver
uniprot_sec
B0I1R3
resolver
uniprot_sec
Q0P656
resolver
uniprot_sec
Q9H6Y6
resolver
amino_acid_sequence
MSVGELYSQCTRVWIPDPDEVWRSAELTKDYKEGDKSLQLRLEDETILEYPIDVQRNQLPFLRNPDILVGENDLTALSYLHEPAVLHNLKVRFLESNHIYTYCGIVLVAINPYEQLPIYGQDVIYTYSGQNMGDMDPHIFAVAEEAYKQMARDEKNQSIIVSGESGAGKTVSAKYAMRYFATVGGSASETNIEEKVLASSPIMEAIGNAKTTRNDNSSRFGKYIQIGFDKRYHIIGANMRTYLLEKSRVVFQADDERNYHIFYQLCAAAGLPEFKELALTSAEDFFYTSQGGDTSIEGVDDAEDFEKTRQAFTLLGVKESHQMSIFKIIASILHLGSVAIQAERDGDSCSISPQDVYLSNFCRLLGVEHSQMEHWLCHRKLVTTSETYVKTMSLQQVINARNALAKHIYAQLFGWIVEHINKALHTSLKQHSFIGVLDIYGFETFEVNSFEQFCINYANEKLQQQFNSHVFKLEQEEYMKEQIPWTLIDFYDNQPCIDLIEAKLGILDLLDEECKVPKGTDQNWAQKLYDRHSSSQHFQKPRMSNTAFIIVHFADKVEYLSDGFLEKNRDTVYEEQINILKASKFPLVADLFHDDKDPVPATTPGKGSSSKISVRSARPPMKVSNKEHKKTVGHQFRTSLHLLMETLNATTPHYVRCIKPNDEKLPFHFDPKRAVQQLRACGVLETIRISAAGYPSRWAYHDFFNRYRVLVKKRELANTDKKAICRSVLENLIKDPDKFQFGRTKIFFRAGQVAYLEKLRADKFRTATIMIQKTVRGWLQKVKYHRLKGATLTLQRYCRGHLARRLAEHLRRIRAAVVLQKHYRMQRARQAYQRVRRAAVVIQAFTRAMFVRRTYRQVLMEHKATTIQKHVRGWMARRHFQRLRDAAIVIQCAFRMLKARRELKALRIEARSAEHLKRLNVGMENKVVQLQRKIDEQNKEFKTLSEQLSVTTSTYTMEVERLKKELVHYQQSPGEDTSLRLQEEVESLRTELQRAHSERKILEDAHSREKDELRKRVADLEQENALLKDEKEQLNNQILCQSKDEFAQNSVKENLMKKELEEERSRYQNLVKEYSQLEQRYDNLRDEMTIIKQTPGHRRNPSNQSSLESDSNYPSISTSEIGDTEDALQQVEEIGLEKAAMDMTVFLKLQKRVRELEQERKKLQVQLEKREQQDSKKVQAEPPQTDIDLDPNADLAYNSLKRQELESENKKLKNDLNELRKAVADQATQNNSSHGSPDSYSLLLNQLKLAHEELEVRKEEVLILRTQIVSADQRRLAGRNAEPNINARSSWPNSEKHVDQEDAIEAYHGVCQTNSKTEDWGYLNEDGELGLAYQGLKQVARLLEAQLQAQSLEHEEEVEHLKAQLEALKEEMDKQQQTFCQTLLLSPEAQVEFGVQQEISRLTNENLDLKELVEKLEKNERKLKKQLKIYMKKAQDLEAAQALAQSERKRHELNRQVTVQRKEKDFQGMLEYHKEDEALLIRNLVTDLKPQMLSGTVPCLPAYILYMCIRHADYTNDDLKVHSLLTSTINGIKKVLKKHNDDFEMTSFWLSNTCRLLHCLKQYSGDEGFMTQNTAKQNEHCLKNFDLTEYRQVLSDLSIQIYQQLIKIAEGVLQPMIVSAMLENESIQGLSGVKPTGYRKRSSSMADGDNSYCLEAIIRQMNAFHTVMCDQGLDPEIILQVFKQLFYMINAVTLNNLLLRKDVCSWSTGMQLRYNISQLEEWLRGRNLHQSGAVQTMEPLIQAAQLLQLKKKTQEDAEAICSLCTSLSTQQIVKILNLYTPLNEFEERVTVAFIRTIQAQLQERNDPQQLLLDAKHMFPVLFPFNPSSLTMDSIHIPACLNLEFLNEV
uniprot
proteins
disease_involvement
DISEASE: Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) [MIM:251850]: A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. {ECO:0000269|PubMed:18724368, ECO:0000269|PubMed:19006234, ECO:0000269|PubMed:20186687, ECO:0000269|PubMed:21206382, ECO:0000269|PubMed:24138727, ECO:0000269|PubMed:24892806, ECO:0000269|PubMed:32304554, ECO:0000269|PubMed:33525641, ECO:0000269|PubMed:34816459}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cholestasis, progressive familial intrahepatic, 10 (PFIC10) [MIM:619868]: A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC10 is an autosomal recessive form with highly variable phenotype and severity, manifesting in the first months or years of life. {ECO:0000269|PubMed:27532546, ECO:0000269|PubMed:28027573, ECO:0000269|PubMed:32304554, ECO:0000269|PubMed:33525641, ECO:0000269|PubMed:35129155}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Together with RAB25 regulates transcytosis. Required for proper localization of bile salt export pump ABCB11 at the apical/canalicular plasma membrane of hepatocytes (PubMed:34816459). {ECO:0000269|PubMed:21206382, ECO:0000269|PubMed:21282656, ECO:0000269|PubMed:34816459}.
uniprot
proteins
mass_dalton
213672
uniprot
proteins
mutagenesis
MUTAGEN 1300; /note="Q->L: Abolishes interaction with RAB8A and has no effect on RAB11A interaction; when associated with C-1307."; /evidence="ECO:0000269|PubMed:21282656"; MUTAGEN 1307; /note="Y->C: Abolishes interaction with RAB8A and has no effect on RAB11A interaction; when associated with L-1300."; /evidence="ECO:0000269|PubMed:21282656"; MUTAGEN 1714; /note="Y->E: Abolishes interaction with RAB11A; has no effect on RAB8A interaction."; /evidence="ECO:0000269|PubMed:21282656"; MUTAGEN 1748; /note="Q->R: Abolishes interaction with RAB11A; has no effect on RAB8A interaction."; /evidence="ECO:0000269|PubMed:21282656
uniprot
proteins
protein_family
Myosin family
uniprot
proteins
protein_family
TRAFAC class myosin-kinesin ATPase superfamily
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
11495908
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772161
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
17462998
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18724368
uniprot
proteins
pubmed
19006234
uniprot
proteins
pubmed
19542231
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20186687
uniprot
proteins
pubmed
21206382
uniprot
proteins
pubmed
21282656
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24138727
uniprot
proteins
pubmed
24892806
uniprot
proteins
pubmed
27532546
uniprot
proteins
pubmed
28027573
uniprot
proteins
pubmed
29880681
uniprot
proteins
pubmed
32304554
uniprot
proteins
pubmed
33525641
uniprot
proteins
pubmed
34816459
uniprot
proteins
pubmed
35129155
uniprot
proteins
sequence_length
1848
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P70569}.
uniprot
proteins