MYO1E

Protein identityUniProt · HPA

UniProt accession

Q12965

Gene

MYO1E

Ensembl

ENSG00000157483

Chromosome

15

Canonical length

1108 aa

Protein class

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

Subcellular location

Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]

Canonical amino-acid sequenceUniProt

1108 residues, UniProt reviewed canonical sequence.

>Q12965|MYO1E
     1  MGSKGVYQYH WQSHNVKHSG VDDMVLLSKI TENSIVENLK KRYMDDYIFT YIGSVLISVN
    61  PFKQMPYFGE KEIEMYQGAA QYENPPHIYA LADNMYRNMI IDRENQCVII SGESGAGKTV
   121  AAKYIMSYIS RVSGGGTKVQ HVKDIILQSN PLLEAFGNAK TVRNNNSSRF GKYFEIQFSP
   181  GGEPDGGKIS NFLLEKSRVV MRNPGERSFH IFYQLIEGAS AEQKHSLGIT SMDYYYYLSL
   241  SGSYKVDDID DRREFQETLH AMNVIGIFAE EQTLVLQIVA GILHLGNISF KEVGNYAAVE
   301  SEEFLAFPAY LLGINQDRLK EKLTSRQMDS KWGGKSESIH VTLNVEQACY TRDALAKALH
   361  ARVFDFLVDS INKAMEKDHE EYNIGVLDIY GFEIFQKNGF EQFCINFVNE KLQQIFIELT
   421  LKAEQEEYVQ EGIRWTPIEY FNNKIVCDLI ENKVNPPGIM SILDDVCATM HAVGEGADQT
   481  LLQKLQMQIG SHEHFNSWNQ GFIIHHYAGK VSYDMDGFCE RNRDVLFMDL IELMQSSELP
   541  FIKSLFPENL QADKKGRPTT AGSKIKKQAN DLVSTLMKCT PHYIRCIKPN ETKKPRDWEE
   601  SRVKHQVEYL GLKENIRVRR AGYAYRRIFQ KFLQRYAILT KATWPSWQGE EKQGVLHLLQ
   661  SVNMDSDQFQ LGRSKVFIKA PESLFLLEEM RERKYDGYAR VIQKSWRKFV ARKKYVQMRE
   721  EASDLLLNKK ERRRNSINRN FIGDYIGMEE HPELQQFVGK REKIDFADTV TKYDRRFKGV
   781  KRDLLLTPKC LYLIGREKVK QGPDKGLVKE VLKRKIEIER ILSVSLSTMQ DDIFILHEQE
   841  YDSLLESVFK TEFLSLLAKR YEEKTQKQLP LKFSNTLELK LKKENWGPWS AGGSRQVQFH
   901  QGFGDLAVLK PSNKVLQVSI GPGLPKNSRP TRRNTTQNTG YSSGTQNANY PVRAAPPPPG
   961  YHQNGVIRNQ YVPYPHAPGS QRSNQKSLYT SMARPPLPRQ QSTSSDRVSQ TPESLDFLKV
  1021  PDQGAAGVRR QTTSRPPPAG GRPKPQPKPK PQVPQCKALY AYDAQDTDEL SFNANDIIDI
  1081  IKEDPSGWWT GRLRGKQGLF PNNYVTKI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYO1E 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)

0.31

Highest tissue expression

51 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYO1E.

Disease | AllUniProt

Conditions MYO1E is implicated in, by any mechanism.

• Focal segmental glomerulosclerosis 6 (FSGS6) MIM:614131

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 687 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Focal segmental glomerulosclerosis 6
• Nephrotic syndrome
• Uterine corpus endometrial carcinoma

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)

0.44

gnomAD pLI

0

gnomAD missense Z

0.17

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

• actin filament organization
• endocytosis
• glomerular basement membrane development
• glomerular filtration
• glomerulus development
• in utero embryonic development
• platelet-derived growth factor receptor signaling pathway
• podocyte development
• post-embryonic hemopoiesis
• vasculogenesis

Molecular functions

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

Cellular components

• actin cytoskeleton
• adherens junction
• brush border
• clathrin-coated vesicle
• cytoplasm
• cytoskeleton
• extracellular exosome
• microvillus
• myosin complex
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• SH3 domain
• Myosin head, motor domain-like
• Class I myosin tail homology domain
• P-loop containing nucleoside triphosphate hydrolase
• Unconventional myosin-Ie/If, SH3 domain
• SH3-like domain superfamily
• Class I myosin, motor domain
• Kinesin motor domain superfamily
• SH3 domain
• Myosin head (motor domain)
• Unconventional myosin tail, actin- and lipid-binding

KeywordsUniProt

• Actin-binding
• ATP-binding
• Calmodulin-binding
• Cell junction
• Cytoplasm
• Cytoplasmic vesicle
• Cytoskeleton
• Lipid-binding
• Motor protein
• Myosin
• Nucleotide-binding
• Phosphoprotein
• SH3 domain

InteractionsUniProt · HPA

Protein binding partners of MYO1E in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ARL14EP
• CALM
• CARMIL1
• SYNJ1
• DNM2
• OSTF1
• PARP1