Aliases for MYO5C Gene

Aliases for MYO5C Gene

  • Myosin VC 2 3 5
  • Unconventional Myosin-Vc 3 4
  • Myosin 5C 2 3
  • Myosin-Vc 3
  • MGC74969 2
  • MYO5C 5

External Ids for MYO5C Gene

Previous GeneCards Identifiers for MYO5C Gene

  • GC15M048042
  • GC15M045531
  • GC15M050063
  • GC15M050200
  • GC15M050271
  • GC15M052484
  • GC15M029315
  • GC15M052417
  • GC15M052688
  • GC15M057682
  • GC15M057794
  • GC15M057914
  • GC15M059894
  • GC15M054215
  • GC15M054936
  • GC15M055377
  • GC15M055825
  • GC15M056261
  • GC15M056710
  • GC15M057149
  • GC15M057577
  • GC15M060776
  • GC15M061717

Summaries for MYO5C Gene

GeneCards Summary for MYO5C Gene

MYO5C (Myosin VC) is a Protein Coding gene. Diseases associated with MYO5C include Griscelli Syndrome, Type 1 and Diarrhea 2, With Microvillus Atrophy. Among its related pathways are Sweet Taste Signaling and RhoGDI Pathway. Gene Ontology (GO) annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is MYO5A.

UniProtKB/Swiss-Prot Summary for MYO5C Gene

  • May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYO5C Gene

Genomics for MYO5C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYO5C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO5C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYO5C

Top Transcription factor binding sites by QIAGEN in the MYO5C gene promoter:
  • AP-4
  • CBF-B
  • CP1A
  • CP1C
  • Evi-1
  • IRF-1
  • Lmo2
  • POU2F1
  • POU2F1a
  • Sox5

Genomic Locations for MYO5C Gene

Latest Assembly
chr15:52,192,318-52,295,804
(GRCh38/hg38)
Size:
103,487 bases
Orientation:
Minus strand

Previous Assembly
chr15:52,484,519-52,588,001
(GRCh37/hg19 by Entrez Gene)
Size:
103,483 bases
Orientation:
Minus strand

chr15:52,484,519-52,587,995
(GRCh37/hg19 by Ensembl)
Size:
103,477 bases
Orientation:
Minus strand

Genomic View for MYO5C Gene

Genes around MYO5C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO5C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO5C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO5C Gene

Proteins for MYO5C Gene

  • Protein details for MYO5C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQX4-MYO5C_HUMAN
    Recommended name:
    Unconventional myosin-Vc
    Protein Accession:
    Q9NQX4
    Secondary Accessions:
    • Q6P1W8

    Protein attributes for MYO5C Gene

    Size:
    1742 amino acids
    Molecular mass:
    202810 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MYO5C Gene

    Alternative splice isoforms for MYO5C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO5C Gene

Post-translational modifications for MYO5C Gene

  • Ubiquitination at Lys911
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MYO5C Gene

Domains & Families for MYO5C Gene

Gene Families for MYO5C Gene

Protein Domains for MYO5C Gene

InterPro:
Blocks:
  • IQ calmodulin-binding region
  • Myosin N-terminal SH3-like domain
  • Dilute (DIL) domain

Suggested Antigen Peptide Sequences for MYO5C Gene

GenScript: Design optimal peptide antigens:
  • Myosin-Vc (MYO5C_HUMAN)
  • MYO5C protein (Q6P1W8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NQX4

UniProtKB/Swiss-Prot:

MYO5C_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO5C: view

Function for MYO5C Gene

Molecular function for MYO5C Gene

UniProtKB/Swiss-Prot Function:
May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues.

Phenotypes From GWAS Catalog for MYO5C Gene

Gene Ontology (GO) - Molecular Function for MYO5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IBA 21873635
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with MYO5C: view
genes like me logo Genes that share phenotypes with MYO5C: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO5C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYO5C Gene

Localization for MYO5C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYO5C gene
Compartment Confidence
extracellular 4
cytoskeleton 4
cytosol 4
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYO5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0015629 actin cytoskeleton IBA 21873635
GO:0016459 myosin complex IEA --
GO:0031982 vesicle IBA 21873635
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with MYO5C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYO5C Gene

Pathways & Interactions for MYO5C Gene

PathCards logo

SuperPathways for MYO5C Gene

SuperPathway Contained pathways
1 PAK Pathway
.56
.56
.36
2 Actin Nucleation by ARP-WASP Complex
.66
.35
3 RhoGDI Pathway
.33
.33
4 Salmonella infection (KEGG)
5 Sweet Taste Signaling
.46
genes like me logo Genes that share pathways with MYO5C: view

Pathways by source for MYO5C Gene

1 KEGG pathway for MYO5C Gene
10 Qiagen pathways for MYO5C Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for MYO5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IBA 21873635
GO:0030050 vesicle transport along actin filament IBA 21873635
genes like me logo Genes that share ontologies with MYO5C: view

No data available for SIGNOR curated interactions for MYO5C Gene

Drugs & Compounds for MYO5C Gene

No Compound Related Data Available

Transcripts for MYO5C Gene

mRNA/cDNA for MYO5C Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO5C

Alternative Splicing Database (ASD) splice patterns (SP) for MYO5C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - -
SP2: -
SP3:
SP4: -
SP5:
SP6:
SP7:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for MYO5C Gene

GeneLoc Exon Structure for
MYO5C

Expression for MYO5C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYO5C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYO5C Gene

This gene is overexpressed in Pancreas (x4.2).

Protein differential expression in normal tissues from HIPED for MYO5C Gene

This gene is overexpressed in Nasal epithelium (35.4) and Bone (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYO5C Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYO5C

SOURCE GeneReport for Unigene cluster for MYO5C Gene:

Hs.487036

mRNA Expression by UniProt/SwissProt for MYO5C Gene:

Q9NQX4-MYO5C_HUMAN
Tissue specificity: Expressed chiefly in non-neuronal tissues. Particularly abundant in epithelial and glandular tissues including pancreas, prostate, mammary, stomach, colon and lung.

Evidence on tissue expression from TISSUES for MYO5C Gene

  • Nervous system(4.5)
  • Eye(2.7)
genes like me logo Genes that share expression patterns with MYO5C: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO5C Gene

Orthologs for MYO5C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MYO5C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYO5C 29 30
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYO5C 29 30
  • 91.17 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYO5C 30
  • 87 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MYO5C 30
  • 86 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myo5c 29
  • 85.32 (n)
Mouse
(Mus musculus)
Mammalia Myo5c 29 16 30
  • 85.25 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MYO5C 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYO5C 29 30
  • 75.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYO5C 30
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myo5c 29
  • 70.09 (n)
Str.12937 29
Zebrafish
(Danio rerio)
Actinopterygii myo5c 29 30
  • 65.69 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta didum 30 31
  • 36 (a)
OneToMany
d 31
  • 28 (a)
Worm
(Caenorhabditis elegans)
Secernentea hum-2 30 31
  • 33 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO2 30
  • 34 (a)
ManyToMany
MYO4 30
  • 32 (a)
ManyToMany
SGM1 32
Thale Cress
(Arabidopsis thaliana)
eudicotyledons XID 29
  • 47.42 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myo51 29
  • 46.87 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10542 30
  • 41 (a)
OneToMany
Species where no ortholog for MYO5C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MYO5C Gene

ENSEMBL:
Gene Tree for MYO5C (if available)
TreeFam:
Gene Tree for MYO5C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYO5C: view image
Alliance of Genome Resources:
Additional Orthologs for MYO5C

Paralogs for MYO5C Gene

(36) SIMAP similar genes for MYO5C Gene using alignment to 6 proteins:

  • MYO5C_HUMAN
  • E9PE01_HUMAN
  • H0YM93_HUMAN
  • H0YM96_HUMAN
  • H0YMK3_HUMAN
  • Q6P1W8_HUMAN
genes like me logo Genes that share paralogs with MYO5C: view

Variants for MYO5C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYO5C Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs200743352 Likely Benign: not provided 52,278,913(-) T/C
NM_018728.4(MYO5C):c.409A>G (p.Ile137Val)
MISSENSE
rs73404874 Benign: not provided 52,218,687(-) C/G
NM_018728.4(MYO5C):c.3786G>C (p.Lys1262Asn)
MISSENSE
rs17650440 -- p.Pro1396Leu
rs3825801 -- p.Glu1075Lys
rs55686434 -- p.Arg172Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYO5C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MYO5C Gene

Variant ID Type Subtype PubMed ID
dgv1212n106 CNV deletion 24896259
esv1288276 CNV deletion 17803354
esv2403082 CNV deletion 18987734
esv2637818 CNV deletion 19546169
esv2749694 CNV deletion 23290073
esv3552449 CNV deletion 23714750
esv7451 CNV loss 19470904
esv999998 CNV deletion 20482838
nsv1537 CNV deletion 18451855
nsv471244 CNV gain 18288195
nsv833005 CNV gain 17160897
nsv957980 CNV deletion 24416366

Variation tolerance for MYO5C Gene

Residual Variation Intolerance Score: 26.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.83; 93.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYO5C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO5C
Leiden Open Variation Database (LOVD)
MYO5C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO5C Gene

Disorders for MYO5C Gene

MalaCards: The human disease database

(4) MalaCards diseases for MYO5C Gene - From: COP

Disorder Aliases PubMed IDs
griscelli syndrome, type 1
  • gs1
diarrhea 2, with microvillus atrophy
  • diar2
congenital diarrhea
griscelli syndrome
  • chediak-higashi-like syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MYO5C in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYO5C

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MYO5C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYO5C Gene

Publications for MYO5C Gene

  1. Human myosin-Vc is a novel class V myosin expressed in epithelial cells. (PMID: 11870218) Rodriguez OC … Cheney RE (Journal of cell science 2002) 2 3 4 22
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Myosin Vc is a molecular motor that functions in secretory granule trafficking. (PMID: 19741097) Jacobs DT … Cheney RE (Molecular biology of the cell 2009) 3 22
  4. Human myosin Vc is a low duty ratio, nonprocessive molecular motor. (PMID: 18201966) Takagi Y … Kovács M (The Journal of biological chemistry 2008) 3 22
  5. Human myosin Vc is a low duty ratio nonprocessive motor. (PMID: 18079121) Watanabe S … Ikebe M (The Journal of biological chemistry 2008) 3 22

Products for MYO5C Gene

Sources for MYO5C Gene