MYO5A Gene
protein-coding GIFtS: 62
GCID: GC15M052599
|
|
myosin VA (heavy chain 12, myoxin)(Previous names: myosin VA (heavy polypeptide 12, myoxin) )
(Previous symbol: MYH12)
| |
Aliases
for MYO5A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Myosin VA (Heavy Chain 12, Myoxin)1 2 | | Myosin, Heavy Polypeptide Kinase2 | | MYH121 2 3 5 | | Myosin-123 | | GS11 2 5 | | Myosin-Va1 | | MYO51 2 | | Myoxin3 | | MYR121 2 | | Unconventional Myosin-Va2 | | Dilute Myosin Heavy Chain, Non-Muscle2 3 | | Myosin-123 | | Myosin VA (Heavy Polypeptide 12, Myoxin)1 | | Myoxin3 | | Myosin V2 | | Myosin Heavy Chain 123 |
Export aliases for MYO5A gene to outside databasesPrevious GC identifers: GC15M048163 GC15M045652 GC15M050183 GC15M050321 GC15M050392 GC15M029430 |
Summaries
for MYO5A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MYO5A:
This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class ofactin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNAtranslocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this genecause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, orElejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported,but the full-length nature of some variants has not been determined. (provided by RefSeq, Dec 2008)
UniProtKB/Swiss-Prot: MYO5A_HUMAN, Q9Y4I1Function: Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actinfilament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May alsobe required for some polarization process involved in dendrite formation
Gene Wiki entry for MYO5A
|
Genomic Views
for MYO5A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010194.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MYO5A gene promoter:
Cart-1 Evi-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for MYO5A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYO5A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q21 Ensembl cytogenetic band: 15q21.2 HGNC cytogenetic band: 15q21MYO5A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M052599: view genomic region
(about GC identifiers)
Start:
|
52,599,480 bp from pter |
End:
|
52,821,247 bp from pter |
Size:
|
221,768 bases |
Orientation:
|
minus strand |
|
Proteins
for MYO5A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MYO5A_HUMAN, Q9Y4I1 (See
protein sequence)Recommended Name: Unconventional myosin-Va Size: 1855 amino acids; 215405 Da
Subunit: May be a homodimer, which associates with multiple calmodulin or myosin light chains. Binds MLPH and MYRIP.Interacts with RIPL2, the interaction is required for its role in dendrite formation (By similarity). Interacts withRAB10; mediates the transport to the plasma membrane of SLC2A4/GLUT4 storage vesicles
Secondary accessions: A8MZC5 O60653 Q07902 Q16249 Q9UE30 Q9UE31Alternative splicing: 3 isoforms: Q9Y4I1-1 Q9Y4I1-2 Q9Y4I1-3 Explore the universe of human proteins at neXtProt for MYO5A: NX_Q9Y4I1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y4I1
MYO5A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000250.3 NP_001135967.1
ENSEMBL proteins: ENSP00000382177 ENSP00000348693 ENSP00000451109 ENSP00000382175 ENSP00000382174 ENSP00000458016 ENSP00000451178 ENSP00000382179 ENSP00000350945 Reactome Protein details: Q9Y4I1
Human Recombinant Protein Products:
Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14): About this table
MYO5A for ontologies About GeneDecksing
MYO5A Antibody Products:
Assay Products for MYO5A: |
Protein
Domains /
Families
for MYO5A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MYO5A for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y4I1ProtoNet protein and cluster: Q9Y4I1 2 Blocks protein families: IPB000048 IQ calmodulin-binding region IPB002710 Dilute (DIL) domain
UniProtKB/Swiss-Prot: MYO5A_HUMAN, Q9Y4I1Similarity: Contains 1 dilute domainSimilarity: Contains 6 IQ domainsSimilarity: Contains 1 myosin head-like domain |
Function
for MYO5A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MYO5A_HUMAN, Q9Y4I1Function: Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actinfilament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May alsobe required for some polarization process involved in dendrite formation Genatlas biochemistry entry for MYO5A:myosin 5A,unconventional,apparently non filamentous,processive motor protein,expressed in non muscle tissues,movingvesicles on actin tracks through a characteristic cycle of interaction with actin,the rate limiting step of the cyclebeing the ADP release,also involved in melanogenesis
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MYO5A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MYO5A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): MYO5A (NM_000259) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MYO5A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYO5A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO5A |
Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table
MYO5A for ontologies About GeneDecksing
Animal Models:
13 MGI mutant phenotypes (inferred from 50 alleles ) (MGI details for Myo5a):
MYO5A for phenotypes About GeneDecksing
|
Pathways & Interactions
for MYO5A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Regulation of actin dynamics for phagocytic cup formation | | | 2 | PAK Pathway | | | 3 | Immune System | | | 4 | Insulin Processing | | | 5 | Membrane Trafficking | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for MYO5A
5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYO5A (see all 11)
5/12 
Reactome Pathways for MYO5A (see all 12)
MYO5A for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYO5A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/50 Interacting proteins for MYO5A (Q9Y4I12, 3 ENSP000003821774) via UniProtKB, MINT, STRING, and/or I2D (see all 50)About this table
Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24): About this table
MYO5A for ontologies About GeneDecksing
|
Drugs & Compounds
for MYO5A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MYO5A for compounds About GeneDecksing
 Browse Tocris compounds for MYO5A
10 Novoseek chemical compound relationships for MYO5A gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| actomyosin |
74.1 |
2 |
11805840 (1), 18201966 (1) |
| adp |
68.4 |
35 |
15579901 (4), 19506755 (3), 10969013 (2), 19134468 (2) (see all 17) |
| mant-adp |
64.5 |
1 |
15952789 (1) |
| atp |
58.5 |
25 |
11517216 (4), 18851416 (2), 20338849 (2), 12791999 (1) (see all 19) |
| 2,3-butanedione monoxime |
48.1 |
2 |
12630704 (1) |
| pyrene |
28.6 |
4 |
11517216 (1), 16921171 (1), 15952789 (1) |
| calcium |
3.5 |
23 |
17562702 (4), 18060865 (3), 15007063 (2), 11517216 (2) (see all 10) |
| glucose |
1.52 |
3 |
17515613 (2) |
| magnesium |
0 |
5 |
15579901 (3), 10882730 (1), 15952789 (1) |
| sucrose |
0 |
2 |
12675905 (1), 15051957 (1) |
Search CenterWatch for drugs/clinical trials and news about MYO5A
|
Transcripts
for MYO5A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MYO5A gene (2 alternative transcripts): NM_000259.3 NM_001142495.1 Unigene Cluster for MYO5A: Myosin VA (heavy chain 12, myoxin) Hs.21213 [show with all ESTs]Unigene Representative Sequence: NM_00025912 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000399231(uc010ugd.1 uc002aby.2 uc002abx.3) ENST00000356338
ENST00000553916(uc002abz.1 uc002acb.1) ENST00000399229 ENST00000465290
ENST00000399228(uc002acc.1) ENST00000568914(uc002aca.1) ENST00000556196
ENST00000469611 ENST00000561810 ENST00000399233(uc010uge.1) ENST00000358212
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MYO5A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MYO5A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): MYO5A (NM_000259) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MYO5A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYO5A |
Additional cDNA sequence: AB209487.1 AB209505.1 AB290180.1 AF055459.1 AF090424.1 AF090425.1 AF090426.1 AF090427.1 AF090428.1 AK057146.1 AK090859.1 AK124898.1 AK303660.1 AK307600.1 EU921839.1 S74799.1 U90942.1 Y07759.1 13 DOTS entries: DT.215648 DT.453035 DT.92429873 DT.91696302 DT.95374224 DT.75123177 DT.121059572 DT.121059595 DT.95322188 DT.97800816 DT.100734002 DT.86859395 DT.95263851 24/193 AceView cDNA sequences (see all 193): AI355936 AA384247 BX104390 BX115258 AA883640 CB137614 BU738571 AI828249 AL121283 Z40946 BX954877 AK124898 AI684468 BQ428290 BP362149 BX094384 CF138482 CR598019 BX104592 BQ187213 BM758672 AI809249 CA422780 AA700939
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for MYO5A (see all 7) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 24 | ^ | 25a | · | 25b | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for MYO5A
|
Expression
for MYO5A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MYO5A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGTTTTCACT
About this image
See MYO5A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYO5A
SOURCE GeneReport for Unigene cluster: Hs.21213
UniProtKB/Swiss-Prot: MYO5A_HUMAN, Q9Y4I1Tissue specificity: Detected in melanocytes
SABiosciences Custom PCR Arrays for MYO5A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MYO5A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MYO5A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYO5A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYO5A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO5A |
Orthologs
for MYO5A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MYO5A gene from 8/30 species (see all 30) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
MYO5A1 |
myosin VA (heavy chain 12, myoxin) |
81.11(n)
91.96(a) |
|
396237 NM_205300.1 NP_990631.1 |
lizard
(Anolis carolinensis) |
Reptilia |
MYO5A6 |
-- |
83(a) |
1 ↔ 1 |
GL343479.1(84936-166029) |
African clawed frog
(Xenopus laevis) |
Amphibia |
myo5a-prov2 |
myosin VA (heavy polypeptide 12, myoxin) |
78.47(n) |
|
BC045050.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
myo5aa1 |
myosin VAa |
71.66(n)
79.85(a) |
|
562188 NM_001080959.2 NP_001074428.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
didum1 , 3 |
myosin ATPase3
dilute class unconventional myosin1 |
39(a)
(best of 2)3
50.29(n)1
42.99(a)1 |
|
2 43D33
356801 NM_165535.11 NP_724569.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
hum-21 , 3 |
Protein HUM-21 |
35(a)3
47.79(n)1
40.05(a)1 |
|
V(9388744-9402300)3
1793211 NM_073032.61 NP_505433.31 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
XID1 |
myosin XI D |
49.21(n)
40.14(a) |
|
817886 NM_128883.2 NP_180882.2 |
rice
(Oryza sativa) |
Liliopsida |
Os.48552 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
77.43(n) |
|
AK122154.1 |
ENSEMBL Gene Tree for MYO5A (if available)
TreeFam Gene Tree for MYO5A (if available) |
Paralogs
for MYO5A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MYO5A gene
- MYO3A2 MYO9A2 MYO5C2 MYO102 MYO15A2 MYO7A2 MYO9B2 MYO162
- MYO7B2 MYO5B2 MYO62 MYO3B2
18/22 SIMAP similar genes for MYO5A using alignment to 8 protein entries: MYO5A_HUMAN (see all proteins)
(see all similar genes):MYO5C MYO5B MYH11 MYO10 MYO1E MYO1B
MYO1D MYH10 MYO1G MYH2 MYO1A MYH9
DKFZp686A01173 FLJ00395 MYO1F variant protein MYO1F MYO19 MYH1
MYO5A for paralogs About GeneDecksing
|
Genomic Variants
for MYO5A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MYO5A (52599480 - 52821247 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MYO5A
1 CNV: 58727
Human Gene Mutation Database (HGMD): MYO5A
Locus Specific Mutation Databases (LSDB): MYO5A
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MYO5A |
|
Disorders
/ Diseases
for MYO5A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MYO5A for disorders About GeneDecksing
OMIM gene information: 160777
OMIM disorders: 214450
UniProtKB/Swiss-Prot: MYO5A_HUMAN, Q9Y4I1
Defects in MYO5A are a cause of Griscelli syndrome type 1 (GS1) [MIM:214450]; also known as Griscelli syndromewith primary neurologic impairment. Griscelli syndrome is a rare autosomal recessive disorder that results inpigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hairand accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mentalretardation, without apparent immune abnormalities Defects in MYO5A are a cause of Griscelli syndrome type 3 (GS3) [MIM:609227]. GS3 is characterized bypigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hairand accumulation of melanosomes in melanocytes, without other clinical manifestations Defects in MYO5A are a cause of Elejalde syndrome (ELEJAS) [MIM:256710]; also known as neuroectodermalmelanolysosomal disease. Elejalde syndrome is an autosomal recessive condition characterized by skin hypopigmentation,the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytesand primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type 1
18  diseases for MYO5A: About MalaCardsgriscelli syndrome type 1 griscelli syndrome griscelli syndrome type 3 hemophagocytic lymphohistiocytosis
piebaldism type 2 diabetes mellitus cerebrovascular accident sialuria
diabetes mellitus herpes simplex neurologic diseases hypotonia
pulmonary disease melanoma thyroiditis pancreatitis
malaria neuronitis
2 diseases from the University of Copenhagen DISEASES database for MYO5A:Ocular albinism Hemophagocytic lymphohistiocytosis 10/11 Novoseek disease relationships for MYO5A gene (see all 11) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| griscelli syndrome, type 1 |
88.3 |
3 |
17185506 (2), 15316067 (1) |
| piebaldism |
78.7 |
1 |
16121806 (1) |
| melanoma b16 |
12.4 |
2 |
9348537 (1), 12531900 (1) |
| metastatic cancer |
7.45 |
2 |
19521958 (2) |
| melanoma |
5.87 |
5 |
12221080 (1), 9348537 (1), 10529054 (1), 11921164 (1) (see all 5) |
| stroke |
4.35 |
6 |
11706052 (2), 20418880 (1), 12386339 (1), 12499355 (1) (see all 5) |
| tumors |
0.676 |
1 |
17941720 (1) |
| cancer |
0.384 |
5 |
19521958 (4) |
| neurological disorders |
0 |
2 |
17185506 (2) |
| mental retardation |
0 |
2 |
12147688 (1), 16121806 (1) |
Human Genome Epidemiology (HuGE) Navigator: MYO5A (7 documents)
Export disorders for MYO5A gene to outside databases
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Publications
for MYO5A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for MYO5A gene, integrated from 9 sources (see all 231):
(articles sorted by number of sources associating them with MYO5A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene. (PubMed id 8188282)1, 2, 3, 9 Engle L.J. and Kennett R.H. (1994)
- Myosin-V is a processive actin-based motor. (PubMed id 10448864)1, 2, 9 Mehta A.D....Cheney R.E. (1999)
- Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome. (PubMed id 10733681)1, 2, 9 Lambert J.... Messiaen L. (2000)
- Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (PubMed id 12897212)1, 2 Menasche G.... de Saint Basile G. (2003)
- Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions. (PubMed id 12062444)1, 2 Nagashima K....Izumi T. (2002)
- Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. (PubMed id 12058346)1, 2 Anikster Y.... Hurvitz H. (2002)
- Two genes are responsible for Griscelli syndrome at the same 15q21 locus. (PubMed id 10704277)1, 2 Pastural E.... de Saint Basile G. (2000)
- Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. (PubMed id 9207796)1, 2 Pastural E.... de Saint Basile G. (1997)
- Cloning and regional assignment of the human myosin heavy chain 12 (MYH12) gene to chromosome band 15q21. (PubMed id 7835087)1, 2 Moore K.J....Jenkins N.A. (1995)
- Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. (PubMed id 8022818)1, 3 Bement W.M....Mooseker M.S. (1994)
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External Searches for MYO5A gene
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OMIM, and NCBI Bookshelf)
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Genome Databases showing MYO5A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing MYO5A gene
(According to HUGE)
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Specialized Databases showing MYO5A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for MYO5A | Pharmacogenomics, SNPs, Pathways | | MYO5Abase | http://bioinf.uta.fi/MYO5Abase/ |
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| Patent Information for MYO5A gene:
Search GeneIP for patents involving MYO5A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MYO5A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for MYO5A | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MYO5A | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MYO5A | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MYO5A | | OriGene 3'-UTR Clone for MYO5A | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MYO5A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MYO5A | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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