Seroatlas · Human Serome Atlas

MYO6

Unconventional myosin-VI

Also known as: DFNA22, DFNB37, KIAA0389, MYO6_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UM54
Gene: MYO6
Ensembl: ENSG00000196586
Chromosome: 6
Canonical length: 1294 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

1294 residues, UniProt reviewed canonical sequence.

>Q9UM54|MYO6
     1  MEDGKPVWAP HPTDGFQMGN IVDIGPDSLT IEPLNQKGKT FLALINQVFP AEEDSKKDVE
    61  DNCSLMYLNE ATLLHNIKVR YSKDRIYTYV ANILIAVNPY FDIPKIYSSE AIKSYQGKSL
   121  GTRPPHVFAI ADKAFRDMKV LKMSQSIIVS GESGAGKTEN TKFVLRYLTE SYGTGQDIDD
   181  RIVEANPLLE AFGNAKTVRN NNSSRFGKFV EIHFNEKSSV VGGFVSHYLL EKSRICVQGK
   241  EERNYHIFYR LCAGASEDIR EKLHLSSPDN FRYLNRGCTR YFANKETDKQ ILQNRKSPEY
   301  LKAGSMKDPL LDDHGDFIRM CTAMKKIGLD DEEKLDLFRV VAGVLHLGNI DFEEAGSTSG
   361  GCNLKNKSAQ SLEYCAELLG LDQDDLRVSL TTRVMLTTAG GTKGTVIKVP LKVEQANNAR
   421  DALAKTVYSH LFDHVVNRVN QCFPFETSSY FIGVLDIAGF EYFEHNSFEQ FCINYCNEKL
   481  QQFFNERILK EEQELYQKEG LGVNEVHYVD NQDCIDLIEA KLVGILDILD EENRLPQPSD
   541  QHFTSAVHQK HKDHFRLTIP RKSKLAVHRN IRDDEGFIIR HFAGAVCYET TQFVEKNNDA
   601  LHMSLESLIC ESRDKFIREL FESSTNNNKD TKQKAGKLSF ISVGNKFKTQ LNLLLDKLRS
   661  TGASFIRCIK PNLKMTSHHF EGAQILSQLQ CSGMVSVLDL MQGGYPSRAS FHELYNMYKK
   721  YMPDKLARLD PRLFCKALFK ALGLNENDYK FGLTKVFFRP GKFAEFDQIM KSDPDHLAEL
   781  VKRVNHWLTC SRWKKVQWCS LSVIKLKNKI KYRAEACIKM QKTIRMWLCK RRHKPRIDGL
   841  VKVGTLKKRL DKFNEVVSVL KDGKPEMNKQ IKNLEISIDT LMAKIKSTMM TQEQIQKEYD
   901  ALVKSSEELL SALQKKKQQE EEAERLRRIQ EEMEKERKRR EEDEKRRRKE EEERRMKLEM
   961  EAKRKQEEEE RKKREDDEKR IQAEVEAQLA RQKEEESQQQ AVLEQERRDR ELALRIAQSE
  1021  AELISDEAQA DLALRRSLDS YPVSKNDGTR PKMTPEQMAK EMSEFLSRGP AVLATKAAAG
  1081  TKKYDLSKWK YAELRDTINT SCDIELLAAC REEFHRRLKV YHAWKSKNKK RNTETEQRAP
  1141  KSVTDYDFAP FLNNSPQQNP AAQIPARQRE IEMNRQQRFF RIPFIRPADQ YKDPQSKKKG
  1201  WWYAHFDGPW IARQMELHPD KPPILLVAGK DDMEMCELNL EETGLTRKRG AEILPRQFEE
  1261  IWERCGGIQY LQNAIESRQA RPTYATAMLQ SLLK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYO6 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 48 nTPM

Expression across tissuesHPA

Tissue

kidney: 48 nTPM
retina: 46 nTPM
parathyroid gland: 38 nTPM
choroid plexus: 33 nTPM
small intestine: 32 nTPM
duodenum: 31 nTPM

Single-cell type

endometrial glandular cells: 1,170 nCPM
esophageal apical cells: 1,109 nCPM
epididymal clear cells: 806 nCPM
sertoli cells: 795 nCPM
salivary ionocytes: 783 nCPM
endometrial luminal cells: 769 nCPM

Immune cell

gdT-cell: 5.4 nTPM
memory CD8 T-cell: 3.1 nTPM
MAIT T-cell: 3 nTPM
naive CD8 T-cell: 3 nTPM
NK-cell: 2.9 nTPM
memory CD4 T-cell: 1.7 nTPM

Brain region

white matter: 74 nTPM
choroid plexus: 69 nTPM
basal ganglia: 63 nTPM
hypothalamus: 53 nTPM
midbrain: 53 nTPM
medulla oblongata: 53 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYO6.

Disease | AllUniProt

Conditions MYO6 is implicated in, by any mechanism.

Deafness, autosomal dominant, 22 (DFNA22) MIM:606346
Deafness, autosomal recessive, 37 (DFNB37) MIM:607821
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (DFNHCM) MIM:606346

Disease | GeneticClinVar

105 pathogenic / likely-pathogenic of 965 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal dominant nonsyndromic hearing loss 22
Autosomal recessive nonsyndromic hearing loss 37
Rare genetic deafness
MYO6-related disorder
Nonsyndromic genetic hearing loss

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): 0.42
gnomAD pLI: 0
gnomAD missense Z: 1.39
DepMap mean gene effect: 0.02
DepMap dependency class: selective

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

Molecular functions

actin binding
actin filament binding
ADP binding
ATP binding
calmodulin binding
cytoskeletal motor activity
identical protein binding
microfilament motor activity
minus-end directed microfilament motor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Myosin head, motor domain-like
Myosin, SH3 domain
Myosin S1 fragment, N-terminal
P-loop containing nucleoside triphosphate hydrolase
Kinesin motor domain superfamily
Myosin head (motor domain)
Myosin VI, cargo binding domain
Class VI myosin, motor domain
Myosin VI, lever arm
Myosin VI cargo binding domain
Myosin VI, lever arm

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MYO6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MYO6 as an antibody target. Whether an autoantibody or antibody against MYO6 could matter depends on whether native MYO6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MYO6 is annotated at the cell surface, where native MYO6 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label MYO6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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