MYO5C myosin VC [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYO5Cprovided by HGNC
Official Full Name: myosin VCprovided by HGNC
Primary source: HGNC:HGNC:7604
See related: Ensembl:ENSG00000128833 MIM:610022; AllianceGenome:HGNC:7604
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization and vesicle transport along actin filament. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in thyroid (RPKM 12.9), stomach (RPKM 10.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.2

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (52192322..52295804, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (50000957..50104091, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (52484519..52588001, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Spire1 and Myosin Vc promote Ca(2+)-evoked externalization of von Willebrand factor in endothelial cells.
Title: Spire1 and Myosin Vc promote Ca(2+)-evoked externalization of von Willebrand factor in endothelial cells.
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Title: Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Unveiling the interaction between the molecular motor Myosin Vc and the small GTPase Rab3A.
Title: Unveiling the interaction between the molecular motor Myosin Vc and the small GTPase Rab3A.
MyoVc is unique in taking variable size steps, which are frequently in the backward direction. Results obtained with chimeric constructs implicate the lever arm/rod of MyoVc as being responsible for these properties. Actin bundles allow single MyoVc motors to move processively.
Title: Myosin Vc Is Specialized for Transport on a Secretory Superhighway.
The myosin V structure reveals the detailed rearrangements underlying myosin force generation as well as the basis of strain-dependent ADP release that is essential for processive myosins, such as myosin V.
Title: Force-producing ADP state of myosin bound to actin.
Myo5c-globular tail domain and Myo5a-globular tail domain are not interchangeable in terms of inhibiting the motor function.
Title: Identification of the Isoform-specific Interactions between the Tail and the Head of Class V Myosin.
Rab38 and its close homolog Rab32 bind to Myosin Vc but not to Myosin Va or Myosin Vb. Binding depends on residues in the switch II region of Rab32 and Rab38 and regions of the Myosin Vc coiled-coil tail domain.
Title: Myosin vc interacts with Rab32 and Rab38 proteins and works in the biogenesis and secretion of melanosomes.
Structural insights into the globular tails of the human type v myosins Myo5a, Myo5b, And Myo5c.
Title: Structural insights into the globular tails of the human type v myosins Myo5a, Myo5b, And Myo5c.
the cargo-binding domain (CBD) structures of the three human MyoV paralogs (Va, Vb, and Vc), revealing subtle structural changes that drive functional differentiation and a novel redox mechanism controlling the CBD dimerization process
Title: Structural insights into functional overlapping and differentiation among myosin V motors.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57435 (e-PCR)
- UniSTS:71452

SHGC-107190 (e-PCR)
- UniSTS:170281

SHGC-80681 (e-PCR)
- UniSTS:102231

A003P09 (e-PCR)
- UniSTS:11634

STS-AA004803 (e-PCR)
- UniSTS:31674

RH45438 (e-PCR)
- UniSTS:9930

G44711 (e-PCR)
- UniSTS:95186

A008V02 (e-PCR)
- UniSTS:54769

D11S2875 (e-PCR)
- UniSTS:152053

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: unconventional myosin-Vc

Names: myosin 5C; myosin-Vc

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_018728.4 → NP_061198.2 unconventional myosin-Vc

See identical proteins and their annotated locations for NP_061198.2

Status: VALIDATED

Source sequence(s)

AC010674

Consensus CDS

CCDS42036.1

UniProtKB/Swiss-Prot

Q6P1W8, Q9NQX4

Related

ENSP00000261839.7, ENST00000261839.12

Conserved Domains (11) summary

smart00015
Location:810 → 828

IQ; Calmodulin-binding motif

smart00242
Location:62 → 752

MYSc; Myosin. Large ATPases

COG1340
Location:890 → 1150

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

cd15476
Location:1369 → 1736

Myo5c_CBD; Cargo binding domain of myosin 5C

cd01380
Location:81 → 741

MYSc_Myo5; class V myosin, motor domain

pfam02736
Location:12 → 48

Myosin_N; Myosin N-terminal SH3-like domain

pfam09311
Location:1020 → 1345

Rab5-bind; Rabaptin-like protein

cd16269
Location:997 → 1010

GBP_C; coiled coil [structural motif]

cl20817
Location:927 → 1030

GBP_C; Guanylate-binding protein, C-terminal domain

cl21455
Location:910 → 1163

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

cl23748
Location:1160 → 1326

DUF3585; Protein of unknown function (DUF3585)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

52192322..52295804 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432845.1 → XP_047288801.1 unconventional myosin-Vc isoform X3
XM_017022408.3 → XP_016877897.1 unconventional myosin-Vc isoform X2
XM_011521781.4 → XP_011520083.1 unconventional myosin-Vc isoform X1

Conserved Domains (10) summary

smart00242
Location:62 → 752

MYSc; Myosin. Large ATPases

COG1340
Location:862 → 1122

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

cd15476
Location:1341 → 1708

Myo5c_CBD; Cargo binding domain of myosin 5C

cd01380
Location:81 → 741

MYSc_Myo5; class V myosin, motor domain

pfam02736
Location:12 → 48

Myosin_N; Myosin N-terminal SH3-like domain

pfam09311
Location:992 → 1317

Rab5-bind; Rabaptin-like protein

cd16269
Location:969 → 982

GBP_C; coiled coil [structural motif]

cl20817
Location:899 → 1002

GBP_C; Guanylate-binding protein, C-terminal domain

cl21455
Location:882 → 1135

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

cl23748
Location:1132 → 1298

DUF3585; Protein of unknown function (DUF3585)
XM_047432846.1 → XP_047288802.1 unconventional myosin-Vc isoform X4