MYO1A

Protein identityUniProt · HPA

UniProt accession

Q9UBC5

Gene

MYO1A

Ensembl

ENSG00000166866

Chromosome

12

Canonical length

1043 aa

Protein class

Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

1043 residues, UniProt reviewed canonical sequence.

>Q9UBC5|MYO1A
     1  MPLLEGSVGV EDLVLLEPLV EESLLKNLQL RYENKEIYTY IGNVVISVNP YQQLPIYGPE
    61  FIAKYQDYTF YELKPHIYAL ANVAYQSLRD RDRDQCILIT GESGSGKTEA SKLVMSYVAA
   121  VCGKGEQVNS VKEQLLQSNP VLEAFGNAKT IRNNNSSRFG KYMDIEFDFK GSPLGGVITN
   181  YLLEKSRLVK QLKGERNFHI FYQLLAGADE QLLKALKLER DTTGYAYLNH EVSRVDGMDD
   241  ASSFRAVQSA MAVIGFSEEE IRQVLEVTSM VLKLGNVLVA DEFQASGIPA SGIRDGRGVR
   301  EIGEMVGLNS EEVERALCSR TMETAKEKVV TALNVMQAQY ARDALAKNIY SRLFDWIVNR
   361  INESIKVGIG EKKKVMGVLD IYGFEILEDN SFEQFVINYC NEKLQQVFIE MTLKEEQEEY
   421  KREGIPWTKV DYFDNGIICK LIEHNQRGIL AMLDEECLRP GVVSDSTFLA KLNQLFSKHG
   481  HYESKVTQNA QRQYDHTMGL SCFRICHYAG KVTYNVTSFI DKNNDLLFRD LLQAMWKAQH
   541  PLLRSLFPEG NPKQASLKRP PTAGAQFKSS VAILMKNLYS KSPNYIRCIK PNEHQQRGQF
   601  SSDLVATQAR YLGLLENVRV RRAGYAHRQG YGPFLERYRL LSRSTWPHWN GGDREGVEKV
   661  LGELSMSSGE LAFGKTKIFI RSPKTLFYLE EQRRLRLQQL ATLIQKIYRG WRCRTHYQLM
   721  RKSQILISSW FRGNMQKKCY GKIKASVLLI QAFVRGWKAR KNYRKYFRSE AALTLADFIY
   781  KSMVQKFLLG LKNNLPSTNV LDKTWPAAPY KCLSTANQEL QQLFYQWKCK RFRDQLSPKQ
   841  VEILREKLCA SELFKGKKAS YPQSVPIPFC GDYIGLQGNP KLQKLKGGEE GPVLMAEAVK
   901  KVNRGNGKTS SRILLLTKGH VILTDTKKSQ AKIVIGLDNV AGVSVTSLKD GLFSLHLSEM
   961  SSVGSKGDFL LVSEHVIELL TKMYRAVLDA TQRQLTVTVT EKFSVRFKEN SVAVKVVQGP
  1021  AGGDNSKLRY KKKGSHCLEV TVQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYO1A 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)

0.28

Highest tissue expression

311 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYO1A.

Disease | AllUniProt

Conditions MYO1A is implicated in, by any mechanism.

• Diarrhea 15, congenital (DIAR15) MIM:621179

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 253 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Diarrhea 15, congenital
• Congenital diarrhea

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)

1.33

gnomAD pLI

0

gnomAD missense Z

-0.5

DepMap mean gene effect

-0.23

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actin filament organization
• actin filament-based movement
• endocytosis
• microvillus assembly
• sensory perception of sound
• vesicle localization

Molecular functions

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

Cellular components

• actin cytoskeleton
• apical plasma membrane
• basolateral plasma membrane
• brush border
• cortical actin cytoskeleton
• cytoplasm
• filamentous actin
• lateral plasma membrane
• microvillus
• myosin complex
• plasma membrane
• plasma membrane raft

Protein domainsUniProt · Pfam · InterPro

• IQ motif, EF-hand binding site
• Myosin head, motor domain-like
• Class I myosin tail homology domain
• P-loop containing nucleoside triphosphate hydrolase
• Class I myosin, motor domain
• Kinesin motor domain superfamily
• Myosin head (motor domain)
• IQ calmodulin-binding motif
• Unconventional myosin tail, actin- and lipid-binding

KeywordsUniProt

• Actin-binding
• ATP-binding
• Calmodulin-binding
• Cell projection
• Motor protein
• Myosin
• Nucleotide-binding
• Phosphoprotein
• Repeat