Seroatlas · Human Serome Atlas

MYOF

Myoferlin

Also known as: FER1L3, KIAA1207, MYOF_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NZM1
Gene
MYOF
Ensembl
ENSG00000138119
Chromosome
10
Canonical length
2061 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Vesicles,Plasma membrane,Primary cilium,Primary cilium tip,Centriolar satellite,Basal body

OverviewNCBI Gene

Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]

Canonical amino-acid sequenceUniProt

2061 residues, UniProt reviewed canonical sequence.

>Q9NZM1|MYOF
     1  MLRVIVESAS NIPKTKFGKP DPIVSVIFKD EKKKTKKVDN ELNPVWNEIL EFDLRGIPLD
    61  FSSSLGIIVK DFETIGQNKL IGTATVALKD LTGDQSRSLP YKLISLLNEK GQDTGATIDL
   121  VIGYDPPSAP HPNDLSGPSV PGMGGDGEED EGDEDRLDNA VRGPGPKGPV GTVSEAQLAR
   181  RLTKVKNSRR MLSNKPQDFQ IRVRVIEGRQ LSGNNIRPVV KVHVCGQTHR TRIKRGNNPF
   241  FDELFFYNVN MTPSELMDEI ISIRVYNSHS LRADCLMGEF KIDVGFVYDE PGHAVMRKWL
   301  LLNDPEDTSS GSKGYMKVSM FVLGTGDEPP PERRDRDNDS DDVESNLLLP AGIALRWVTF
   361  LLKIYRAEDI PQMDDAFSQT VKEIFGGNAD KKNLVDPFVE VSFAGKKVCT NIIEKNANPE
   421  WNQVVNLQIK FPSVCEKIKL TIYDWDRLTK NDVVGTTYLH LSKIAASGGE VEDFSSSGTG
   481  AASYTVNTGE TEVGFVPTFG PCYLNLYGSP REYTGFPDPY DELNTGKGEG VAYRGRILVE
   541  LATFLEKTPP DKKLEPISND DLLVVEKYQR RRKYSLSAVF HSATMLQDVG EAIQFEVSIG
   601  NYGNKFDTTC KPLASTTQYS RAVFDGNYYY YLPWAHTKPV VTLTSYWEDI SHRLDAVNTL
   661  LAMAERLQTN IEALKSGIQG KIPANQLAEL WLKLIDEVIE DTRYTLPLTE GKANVTVLDT
   721  QIRKLRSRSL SQIHEAAVRM RSEATDVKST LAEIEDWLDK LMQLTEEPQN SMPDIIIWMI
   781  RGEKRLAYAR IPAHQVLYST SGENASGKYC GKTQTIFLKY PQEKNNGPKV PVELRVNIWL
   841  GLSAVEKKFN SFAEGTFTVF AEMYENQALM FGKWGTSGLV GRHKFSDVTG KIKLKREFFL
   901  PPKGWEWEGE WIVDPERSLL TEADAGHTEF TDEVYQNESR YPGGDWKPAE DTYTDANGDK
   961  AASPSELTCP PGWEWEDDAW SYDINRAVDE KGWEYGITIP PDHKPKSWVA AEKMYHTHRR
  1021  RRLVRKRKKD LTQTASSTAR AMEELQDQEG WEYASLIGWK FHWKQRSSDT FRRRRWRRKM
  1081  APSETHGAAA IFKLEGALGA DTTEDGDEKS LEKQKHSATT VFGANTPIVS CNFDRVYIYH
  1141  LRCYVYQARN LLALDKDSFS DPYAHICFLH RSKTTEIIHS TLNPTWDQTI IFDEVEIYGE
  1201  PQTVLQNPPK VIMELFDNDQ VGKDEFLGRS IFSPVVKLNS EMDITPKLLW HPVMNGDKAC
  1261  GDVLVTAELI LRGKDGSNLP ILPPQRAPNL YMVPQGIRPV VQLTAIEILA WGLRNMKNFQ
  1321  MASITSPSLV VECGGERVES VVIKNLKKTP NFPSSVLFMK VFLPKEELYM PPLVIKVIDH
  1381  RQFGRKPVVG QCTIERLDRF RCDPYAGKED IVPQLKASLL SAPPCRDIVI EMEDTKPLLA
  1441  SKLTEKEEEI VDWWSKFYAS SGEHEKCGQY IQKGYSKLKI YNCELENVAE FEGLTDFSDT
  1501  FKLYRGKSDE NEDPSVVGEF KGSFRIYPLP DDPSVPAPPR QFRELPDSVP QECTVRIYIV
  1561  RGLELQPQDN NGLCDPYIKI TLGKKVIEDR DHYIPNTLNP VFGRMYELSC YLPQEKDLKI
  1621  SVYDYDTFTR DEKVGETIID LENRFLSRFG SHCGIPEEYC VSGVNTWRDQ LRPTQLLQNV
  1681  ARFKGFPQPI LSEDGSRIRY GGRDYSLDEF EANKILHQHL GAPEERLALH ILRTQGLVPE
  1741  HVETRTLHST FQPNISQGKL QMWVDVFPKS LGPPGPPFNI TPRKAKKYYL RVIIWNTKDV
  1801  ILDEKSITGE EMSDIYVKGW IPGNEENKQK TDVHYRSLDG EGNFNWRFVF PFDYLPAEQL
  1861  CIVAKKEHFW SIDQTEFRIP PRLIIQIWDN DKFSLDDYLG FLELDLRHTI IPAKSPEKCR
  1921  LDMIPDLKAM NPLKAKTASL FEQKSMKGWW PCYAEKDGAR VMAGKVEMTL EILNEKEADE
  1981  RPAGKGRDEP NMNPKLDLPN RPETSFLWFT NPCKTMKFIV WRRFKWVIIG LLFLLILLLF
  2041  VAVLLYSLPN YLSMKIVKPN V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYOF 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)
0.29
Highest tissue expression
58 nTPM

Expression across tissuesHPA

Tissue

  • urinary bladder: 58 nTPM
  • cervix: 53 nTPM
  • skin: 53 nTPM
  • placenta: 52 nTPM
  • smooth muscle: 41 nTPM
  • breast: 41 nTPM

Single-cell type

  • urothelial cells: 1,157 nCPM
  • endometrial glandular cells: 1,114 nCPM
  • endometrial secretory cells: 712 nCPM
  • prostatic hillock cells: 677 nCPM
  • endometrial luminal cells: 528 nCPM
  • alveolar cells type 1: 516 nCPM

Immune cell

  • non-classical monocyte: 27 nTPM
  • intermediate monocyte: 20 nTPM
  • myeloid DC: 8.1 nTPM
  • classical monocyte: 5.5 nTPM
  • plasmacytoid DC: 2.8 nTPM
  • total PBMC: 1.6 nTPM

Brain region

  • choroid plexus: 78 nTPM
  • medulla oblongata: 21 nTPM
  • pons: 19 nTPM
  • midbrain: 16 nTPM
  • spinal cord: 15 nTPM
  • white matter: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYOF.

Disease | AllUniProt

Conditions MYOF is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 445 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Angioedema, hereditary, 7

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)
0.9
gnomAD pLI
0
gnomAD missense Z
0.11
DepMap mean gene effect
-0.05
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

MYOF is annotated at the cell surface, where native MYOF 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 MYOF as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MYOF. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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