MYO9A

Protein identityUniProt · HPA

UniProt accession

B2RTY4

Gene

MYO9A

Ensembl

ENSG00000066933

Chromosome

15

Canonical length

2548 aa

Protein class

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

Subcellular location

Plasma membrane

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 non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains 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 Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

2548 residues, UniProt reviewed canonical sequence.

>B2RTY4|MYO9A
     1  MNINDGGRRR FEDNEHTLRI YPGAISEGTI YCPIPARKNS TAAEVIESLI NKLHLDKTKC
    61  YVLAEVKEFG GEEWILNPTD CPVQRMMLWP RMALENRLSG EDYRFLLREK NLDGSIHYGS
   121  LQSWLRVTEE RRRMMERGFL PQPQQKDFDD LCSLPDLNEK TLLENLRNRF KHEKIYTYVG
   181  SILIVINPFK FLPIYNPKYV KMYDNHQLGK LEPHIYAVAD VAYHAMLQRK KNQCIVISGE
   241  SGSGKTQSTN FLIHHLTALS QKGFASGVEQ IILGAGPVLE AFGNAKTAHN NNSSRFGKFI
   301  QVNYQETGTV LGAYVEKYLL EKSRLVYQEH NERNYHVFYY LLAGASEDER SAFHLKQPEE
   361  YHYLNQITKK PLRQSWDDYC YDSEPDCFTV EGEDLRHDFE RLQLAMEMVG FLPKTRRQIF
   421  SLLSAILHLG NICYKKKTYR DDSIDICNPE VLPIVSELLE VKEEMLFEAL VTRKTVTVGE
   481  KLILPYKLAE AVTVRNSMAK SLYSALFDWI VFRINHALLN SKDLEHNTKT LSIGVLDIFG
   541  FEDYENNSFE QFCINFANER LQHYFNQHIF KLEQEEYRTE GISWHNIDYI DNTCCINLIS
   601  KKPTGLLHLL DEESNFPQAT NQTLLDKFKH QHEDNSYIEF PAVMEPAFII KHYAGKVKYG
   661  VKDFREKNTD HMRPDIVALL RSSKNAFISG MIGIDPVAVF RWAILRAFFR AMVAFREAGK
   721  RNIHRKTGHD DTAPCAILKS MDSFSFLQHP VHQRSLEILQ RCKEEKYSIT RKNPRTPLSD
   781  LQGMNALNEK NQHDTFDIAW NGRTGIRQSR LSSGTSLLDK DGIFANSTSS KLLERAHGIL
   841  TRNKNFKSKP ALPKHLLEVN SLKHLTRLTL QDRITKSLLH LHKKKKPPSI SAQFQASLSK
   901  LMETLGQAEP YFVKCIRSNA EKLPLRFSDV LVLRQLRYTG MLETVRIRQS GYSSKYSFQD
   961  FVSHFHVLLP RNIIPSKFNI QDFFRKINLN PDNYQVGKTM VFLKEQERQH LQDLLHQEVL
  1021  RRIILLQRWF RVLLCRQHFL HLRQASVIIQ RFWRNYLNQK QVRDAAVQKD AFVMASAAAL
  1081  LQASWRAHLE RQRYLELRAA AIVIQQKWRD YYRRRHMAAI CIQARWKAYR ESKRYQEQRK
  1141  KIILLQSTCR GFRARQRFKA LKEQRLRETK PEVGLVNIKG YGSLEIQGSD PSGWEDCSFD
  1201  NRIKAIEECK SVIESNRISR ESSVDCLKES PNKQQERAQS QSGVDLQEDV LVRERPRSLE
  1261  DLHQKKVGRA KRESRRMREL EQAIFSLELL KVRSLGGISP SEDRRWSTEL VPEGLQSPRG
  1321  TPDSESSQGS LELLSYEESQ KSKLESVISD EGDLQFPSPK ISSSPKFDSR DNALSASNET
  1381  SSAEHLKDGT MKEMVVCSSE SITCKPQLKD SFISNSLPTF FYIPQQDPLK TNSQLDTSIQ
  1441  RNKLLENEDT AGEALTLDIN RETRRYHCSG KDQIVPSLNT ESSNPVLKKL EKLNTEKEER
  1501  QKQLQQQNEK EMMEQIRQQT DILEKERKAF KTIEKPRIGE CLVAPSSYQS KQRVERPSSL
  1561  LSLNTSNKGE LNVLGSLSLK DAALAQKDSS SAHLPPKDRP VTVFFERKGS PCQSSTVKEL
  1621  SKTDRMGTQL NVACKLSNNR ISKREHFRPT QSYSHNSDDL SREGNARPIF FTPKDNMSIP
  1681  LVSKEALNSK NPQLHKEDEP AWKPVKLAGP GQRETSQRFS SVDEQAKLHK TMSQGEITKL
  1741  AVRQKASDSD IRPQRAKMRF WAKGKQGEKK TTRVKPTTQS EVSPLFAGTD VIPAHQFPDE
  1801  LAAYHPTPPL SPELPGSCRK EFKENKEPSP KAKRKRSVKI SNVALDSMHW QNDSVQIIAS
  1861  VSDLKSMDEF LLKKVNDLDN EDSKKDTLVD VVFKKALKEF RQNIFSFYSS ALAMDDGKSI
  1921  RYKDLYALFE QILEKTMRLE QRDSLGESPV RVWVNTFKVF LDEYMNEFKT SDCTATKVPK
  1981  TERKKRRKKE TDLVEEHNGH IFKATQYSIP TYCEYCSSLI WIMDRASVCK LCKYACHKKC
  2041  CLKTTAKCSK KYDPELSSRQ FGVELSRLTS EDRTVPLVVE KLINYIEMHG LYTEGIYRKS
  2101  GSTNKIKELR QGLDTDAESV NLDDYNIHVI ASVFKQWLRD LPNPLMTFEL YEEFLRAMGL
  2161  QERKETIRGV YSVIDQLSRT HLNTLERLIF HLVRIALQED TNRMSANALA IVFAPCILRC
  2221  PDTTDPLQSV QDISKTTTCV ELIVVEQMNK YKARLKDISS LEFAENKAKT RLSLIRRSMG
  2281  KGRIRRGNYP GPSSPVVVRL PSVSDVSEET LTSEAAMETD ITEQQQAAMQ QEERVLTEQI
  2341  ENLQKEKEEL TFEMLVLEPR ASDDETLESE ASIGTADSSE NLNMESEYAI SEKSERSLAL
  2401  SSLKTAGKSE PSSKLRKQLK KQQDSLDVVD SSVSSLCLSN TASSHGTRKL FQIYSKSPFY
  2461  RAASGNEALG MEGPLGQTKF LEDKPQFISR GTFNPEKGKQ KLKNVKNSPQ KTKETPEGTV
  2521  MSGRRKTVDP DCTSNQQLAL FGNNEFMV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYO9A 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

1

Mean surface accessibility (rSASA)

0.44

Highest tissue expression

57 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYO9A.

Disease | AllUniProt

Conditions MYO9A is implicated in, by any mechanism.

• Myasthenic syndrome, congenital, 24, presynaptic (CMS24) MIM:618198

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 555 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Myasthenic syndrome, congenital, 24, presynaptic

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)

0.3

gnomAD pLI

0.49

gnomAD missense Z

1.74

DepMap mean gene effect

-0.03

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

• cell junction assembly
• establishment of epithelial cell apical/basal polarity
• intracellular signal transduction
• regulation of neuron projection arborization
• regulation of small GTPase mediated signal transduction
• visual perception

Molecular functions

• actin filament binding
• ATP binding
• GTPase activator activity
• microfilament motor activity
• zinc ion binding

Cellular components

• actin filament
• axonal growth cone
• cytosol
• membrane
• synapse
• unconventional myosin complex

Protein domainsUniProt · Pfam · InterPro

• IQ motif, EF-hand binding site
• Ras-associating domain
• Rho GTPase-activating protein domain
• Myosin head, motor domain-like
• Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
• Rho GTPase activation protein
• P-loop containing nucleoside triphosphate hydrolase
• Ubiquitin-like domain superfamily
• Class IX myosin, motor domain
• Kinesin motor domain superfamily
• C1-like domain superfamily
• Unconventional class IX myosin
• Myosin head (motor domain)
• Phorbol esters/diacylglycerol binding domain (C1 domain)
• IQ calmodulin-binding motif
• RhoGAP domain
• Ras association (RalGDS/AF-6) domain
• Unconventional myosin-IXa, Ras-associating domain
• Unconventional myosin-IXa, Rho-GAP domain

KeywordsUniProt

• Actin-binding
• ATP-binding
• Cell projection
• Coiled coil
• Congenital myasthenic syndrome
• Cytoplasm
• GTPase activation
• Membrane
• Metal-binding
• Motor protein
• Myosin
• Nucleotide-binding
• Phosphoprotein
• Repeat
• Synapse
• Transmembrane
• Transmembrane helix
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of MYO9A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CDC42