MYF6

Protein identityUniProt · HPA

UniProt accession

P23409

Gene

MYF6

Ensembl

ENSG00000111046

Chromosome

12

Canonical length

242 aa

Protein class

Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Mitotic spindle,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

242 residues, UniProt reviewed canonical sequence.

>P23409|MYF6
     1  MMMDLFETGS YFFYLDGENV TLQPLEVAEG SPLYPGSDGT LSPCQDQMPP EAGSDSSGEE
    61  HVLAPPGLQP PHCPGQCLIW ACKTCKRKSA PTDRRKAATL RERRRLKKIN EAFEALKRRT
   121  VANPNQRLPK VEILRSAISY IERLQDLLHR LDQQEKMQEL GVDPFSYRPK QENLEGADFL
   181  RTCSSQWPSV SDHSRGLVIT AKEGGASIDS SASSSLRCLS SIVDSISSEE RKLPCVEEVV
   241  EK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYF6 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)

0.61

Highest tissue expression

472 nTPM

Expression across tissuesHPA

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)

1.13

gnomAD pLI

0

gnomAD missense Z

-0.36

DepMap mean gene effect

-0.11

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

• muscle cell fate commitment
• muscle tissue morphogenesis
• negative regulation of DNA-templated transcription
• positive regulation of myoblast differentiation
• positive regulation of skeletal muscle fiber development
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• skeletal muscle cell differentiation
• skeletal muscle tissue development
• skeletal muscle tissue regeneration
• somitogenesis

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• protein dimerization activity
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• cytosol
• mitotic spindle
• nucleoplasm
• nucleus
• RNA polymerase II transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Myogenic muscle-specific protein, N-terminal
• Myc-type, basic helix-loop-helix (bHLH) domain
• Helix-loop-helix DNA-binding domain superfamily
• Myogenic factor
• Helix-loop-helix DNA-binding domain
• Myogenic Basic domain

KeywordsUniProt

• Developmental protein
• Differentiation
• DNA-binding
• Myogenesis
• Nucleus

InteractionsUniProt · HPA

Protein binding partners of MYF6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CSRP3
• TCF12