MYH14

Protein identityUniProt · HPA

UniProt accession

Q7Z406

Gene

MYH14

Ensembl

ENSG00000105357

Chromosome

19

Canonical length

1995 aa

Protein class

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

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

1995 residues, UniProt reviewed canonical sequence.

>Q7Z406|MYH14
     1  MAAVTMSVPG RKAPPRPGPV PEAAQPFLFT PRGPSAGGGP GSGTSPQVEW TARRLVWVPS
    61  ELHGFEAAAL RDEGEEEAEV ELAESGRRLR LPRDQIQRMN PPKFSKAEDM AELTCLNEAS
   121  VLHNLRERYY SGLIYTYSGL FCVVINPYKQ LPIYTEAIVE MYRGKKRHEV PPHVYAVTEG
   181  AYRSMLQDRE DQSILCTGES GAGKTENTKK VIQYLAHVAS SPKGRKEPGV PGELERQLLQ
   241  ANPILEAFGN AKTVKNDNSS RFGKFIRINF DVAGYIVGAN IETYLLEKSR AIRQAKDECS
   301  FHIFYQLLGG AGEQLKADLL LEPCSHYRFL TNGPSSSPGQ ERELFQETLE SLRVLGFSHE
   361  EIISMLRMVS AVLQFGNIAL KRERNTDQAT MPDNTAAQKL CRLLGLGVTD FSRALLTPRI
   421  KVGRDYVQKA QTKEQADFAL EALAKATYER LFRWLVLRLN RALDRSPRQG ASFLGILDIA
   481  GFEIFQLNSF EQLCINYTNE KLQQLFNHTM FVLEQEEYQR EGIPWTFLDF GLDLQPCIDL
   541  IERPANPPGL LALLDEECWF PKATDKSFVE KVAQEQGGHP KFQRPRHLRD QADFSVLHYA
   601  GKVDYKANEW LMKNMDPLND NVAALLHQST DRLTAEIWKD VEGIVGLEQV SSLGDGPPGG
   661  RPRRGMFRTV GQLYKESLSR LMATLSNTNP SFVRCIVPNH EKRAGKLEPR LVLDQLRCNG
   721  VLEGIRICRQ GFPNRILFQE FRQRYEILTP NAIPKGFMDG KQACEKMIQA LELDPNLYRV
   781  GQSKIFFRAG VLAQLEEERD LKVTDIIVSF QAAARGYLAR RAFQKRQQQQ SALRVMQRNC
   841  AAYLKLRHWQ WWRLFTKVKP LLQVTRQDEV LQARAQELQK VQELQQQSAR EVGELQGRVA
   901  QLEEERARLA EQLRAEAELC AEAEETRGRL AARKQELELV VSELEARVGE EEECSRQMQT
   961  EKKRLQQHIQ ELEAHLEAEE GARQKLQLEK VTTEAKMKKF EEDLLLLEDQ NSKLSKERKL
  1021  LEDRLAEFSS QAAEEEEKVK SLNKLRLKYE ATIADMEDRL RKEEKGRQEL EKLKRRLDGE
  1081  SSELQEQMVE QQQRAEELRA QLGRKEEELQ AALARAEDEG GARAQLLKSL REAQAALAEA
  1141  QEDLESERVA RTKAEKQRRD LGEELEALRG ELEDTLDSTN AQQELRSKRE QEVTELKKTL
  1201  EEETRIHEAA VQELRQRHGQ ALGELAEQLE QARRGKGAWE KTRLALEAEV SELRAELSSL
  1261  QTARQEGEQR RRRLELQLQE VQGRAGDGER ARAEAAEKLQ RAQAELENVS GALNEAESKT
  1321  IRLSKELSST EAQLHDAQEL LQEETRAKLA LGSRVRAMEA EAAGLREQLE EEAAARERAG
  1381  RELQTAQAQL SEWRRRQEEE AGALEAGEEA RRRAAREAEA LTQRLAEKTE TVDRLERGRR
  1441  RLQQELDDAT MDLEQQRQLV STLEKKQRKF DQLLAEEKAA VLRAVEERER AEAEGREREA
  1501  RALSLTRALE EEQEAREELE RQNRALRAEL EALLSSKDDV GKSVHELERA CRVAEQAAND
  1561  LRAQVTELED ELTAAEDAKL RLEVTVQALK TQHERDLQGR DEAGEERRRQ LAKQLRDAEV
  1621  ERDEERKQRT LAVAARKKLE GELEELKAQM ASAGQGKEEA VKQLRKMQAQ MKELWREVEE
  1681  TRTSREEIFS QNRESEKRLK GLEAEVLRLQ EELAASDRAR RQAQQDRDEM ADEVANGNLS
  1741  KAAILEEKRQ LEGRLGQLEE ELEEEQSNSE LLNDRYRKLL LQVESLTTEL SAERSFSAKA
  1801  ESGRQQLERQ IQELRGRLGE EDAGARARHK MTIAALESKL AQAEEQLEQE TRERILSGKL
  1861  VRRAEKRLKE VVLQVEEERR VADQLRDQLE KGNLRVKQLK RQLEEAEEEA SRAQAGRRRL
  1921  QRELEDVTES AESMNREVTT LRNRLRRGPL TFTTRTVRQV FRLEEGVASD EEAEEAQPGS
  1981  GPSPEPEGSP PAHPQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYH14 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)

0.39

Highest tissue expression

133 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYH14.

Disease | AllUniProt

Conditions MYH14 is implicated in, by any mechanism.

• Deafness, autosomal dominant, 4A (DFNA4A) MIM:600652
• Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) MIM:614369

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 1,608 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal dominant nonsyndromic hearing loss 4A
• MYH14-related disorder
• Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
• See cases
• Ovarian serous cystadenocarcinoma

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)

0.33

gnomAD pLI

0.04

gnomAD missense Z

2.28

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actin filament-based movement
• actomyosin structure organization
• mitochondrion organization
• mitotic cytokinesis
• neuronal action potential
• regulation of cell shape
• sensory perception of sound
• skeletal muscle contraction
• skeletal muscle tissue development
• vocalization behavior

Molecular functions

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

Cellular components

• actomyosin
• brush border
• cytoplasm
• cytosol
• extracellular exosome
• growth cone
• membrane
• myosin filament
• myosin II complex
• myosin II filament
• stress fiber

Protein domainsUniProt · Pfam · InterPro

• IQ motif, EF-hand binding site
• Myosin head, motor domain-like
• Myosin tail
• Myosin, SH3 domain
• Myosin S1 fragment, N-terminal
• P-loop containing nucleoside triphosphate hydrolase
• Kinesin motor domain superfamily
• Myosin head (motor domain)
• Myosin tail
• Myosin N-terminal SH3-like domain

KeywordsUniProt

• Acetylation
• Actin-binding
• ATP-binding
• Calmodulin-binding
• Cell shape
• Coiled coil
• Deafness
• Motor protein
• Myosin
• Neuropathy
• Non-syndromic deafness
• Nucleotide-binding
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of MYH14 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CHUK
• MYL12A