MYO5B

Protein identityUniProt · HPA

UniProt accession

Q9ULV0

Gene

MYO5B

Ensembl

ENSG00000167306

Chromosome

18

Canonical length

1848 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

Subcellular location

Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

1848 residues, UniProt reviewed canonical sequence.

>Q9ULV0|MYO5B
     1  MSVGELYSQC TRVWIPDPDE VWRSAELTKD YKEGDKSLQL RLEDETILEY PIDVQRNQLP
    61  FLRNPDILVG ENDLTALSYL HEPAVLHNLK VRFLESNHIY TYCGIVLVAI NPYEQLPIYG
   121  QDVIYTYSGQ NMGDMDPHIF AVAEEAYKQM ARDEKNQSII VSGESGAGKT VSAKYAMRYF
   181  ATVGGSASET NIEEKVLASS PIMEAIGNAK TTRNDNSSRF GKYIQIGFDK RYHIIGANMR
   241  TYLLEKSRVV FQADDERNYH IFYQLCAAAG LPEFKELALT SAEDFFYTSQ GGDTSIEGVD
   301  DAEDFEKTRQ AFTLLGVKES HQMSIFKIIA SILHLGSVAI QAERDGDSCS ISPQDVYLSN
   361  FCRLLGVEHS QMEHWLCHRK LVTTSETYVK TMSLQQVINA RNALAKHIYA QLFGWIVEHI
   421  NKALHTSLKQ HSFIGVLDIY GFETFEVNSF EQFCINYANE KLQQQFNSHV FKLEQEEYMK
   481  EQIPWTLIDF YDNQPCIDLI EAKLGILDLL DEECKVPKGT DQNWAQKLYD RHSSSQHFQK
   541  PRMSNTAFII VHFADKVEYL SDGFLEKNRD TVYEEQINIL KASKFPLVAD LFHDDKDPVP
   601  ATTPGKGSSS KISVRSARPP MKVSNKEHKK TVGHQFRTSL HLLMETLNAT TPHYVRCIKP
   661  NDEKLPFHFD PKRAVQQLRA CGVLETIRIS AAGYPSRWAY HDFFNRYRVL VKKRELANTD
   721  KKAICRSVLE NLIKDPDKFQ FGRTKIFFRA GQVAYLEKLR ADKFRTATIM IQKTVRGWLQ
   781  KVKYHRLKGA TLTLQRYCRG HLARRLAEHL RRIRAAVVLQ KHYRMQRARQ AYQRVRRAAV
   841  VIQAFTRAMF VRRTYRQVLM EHKATTIQKH VRGWMARRHF QRLRDAAIVI QCAFRMLKAR
   901  RELKALRIEA RSAEHLKRLN VGMENKVVQL QRKIDEQNKE FKTLSEQLSV TTSTYTMEVE
   961  RLKKELVHYQ QSPGEDTSLR LQEEVESLRT ELQRAHSERK ILEDAHSREK DELRKRVADL
  1021  EQENALLKDE KEQLNNQILC QSKDEFAQNS VKENLMKKEL EEERSRYQNL VKEYSQLEQR
  1081  YDNLRDEMTI IKQTPGHRRN PSNQSSLESD SNYPSISTSE IGDTEDALQQ VEEIGLEKAA
  1141  MDMTVFLKLQ KRVRELEQER KKLQVQLEKR EQQDSKKVQA EPPQTDIDLD PNADLAYNSL
  1201  KRQELESENK KLKNDLNELR KAVADQATQN NSSHGSPDSY SLLLNQLKLA HEELEVRKEE
  1261  VLILRTQIVS ADQRRLAGRN AEPNINARSS WPNSEKHVDQ EDAIEAYHGV CQTNSKTEDW
  1321  GYLNEDGELG LAYQGLKQVA RLLEAQLQAQ SLEHEEEVEH LKAQLEALKE EMDKQQQTFC
  1381  QTLLLSPEAQ VEFGVQQEIS RLTNENLDLK ELVEKLEKNE RKLKKQLKIY MKKAQDLEAA
  1441  QALAQSERKR HELNRQVTVQ RKEKDFQGML EYHKEDEALL IRNLVTDLKP QMLSGTVPCL
  1501  PAYILYMCIR HADYTNDDLK VHSLLTSTIN GIKKVLKKHN DDFEMTSFWL SNTCRLLHCL
  1561  KQYSGDEGFM TQNTAKQNEH CLKNFDLTEY RQVLSDLSIQ IYQQLIKIAE GVLQPMIVSA
  1621  MLENESIQGL SGVKPTGYRK RSSSMADGDN SYCLEAIIRQ MNAFHTVMCD QGLDPEIILQ
  1681  VFKQLFYMIN AVTLNNLLLR KDVCSWSTGM QLRYNISQLE EWLRGRNLHQ SGAVQTMEPL
  1741  IQAAQLLQLK KKTQEDAEAI CSLCTSLSTQ QIVKILNLYT PLNEFEERVT VAFIRTIQAQ
  1801  LQERNDPQQL LLDAKHMFPV LFPFNPSSLT MDSIHIPACL NLEFLNEV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYO5B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

58 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYO5B.

Disease | AllUniProt

Conditions MYO5B is implicated in, by any mechanism.

• Diarrhea 2, with microvillus atrophy, with or without cholestasis (DIAR2) MIM:251850
• Cholestasis, progressive familial intrahepatic, 10 (PFIC10) MIM:619868

Disease | GeneticClinVar

107 pathogenic / likely-pathogenic of 1,907 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital microvillous atrophy
• Cholestasis, progressive familial intrahepatic, 10
• DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS
• MYO5B-related disorder

Disease | ImmuneIEDB

Conditions an epitope on MYO5B was assayed in.

• colorectal cancer T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.69

gnomAD pLI

0

gnomAD missense Z

-0.62

DepMap mean gene effect

0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actin filament organization
• endocytosis
• endosomal transport
• protein transport
• renal water homeostasis
• vesicle-mediated transport

Molecular functions

• actin filament binding
• ATP binding
• calmodulin binding
• microfilament motor activity
• small GTPase binding

Cellular components

• actin cytoskeleton
• apical cortex
• cytoplasm
• cytoplasmic vesicle membrane
• extracellular exosome
• membrane
• myosin complex
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• IQ motif, EF-hand binding site
• Myosin head, motor domain-like
• Dilute domain
• Myosin, SH3 domain
• P-loop containing nucleoside triphosphate hydrolase
• Class V myosin, motor domain
• Kinesin motor domain superfamily
• Unconventional myosin-Va/b domain
• Myosin head (motor domain)
• IQ calmodulin-binding motif
• DIL domain
• Unconventional myosin-Va domain
• Myosin 5b, cargo-binding domain

KeywordsUniProt

• Acetylation
• Actin-binding
• ATP-binding
• Calmodulin-binding
• Coiled coil
• Cytoplasm
• Intrahepatic cholestasis
• Motor protein
• Myosin
• Nucleotide-binding
• Phosphoprotein
• Protein transport
• Repeat
• Transport

InteractionsUniProt · HPA

Protein binding partners of MYO5B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• LIMA1
• NPC1L1
• RAB11A
• RAB11FIP2
• RAB8A