MYO9A - myosin IXA Gene
Also Known as CMS24
Species: Homo sapiens
About MYO9A
This gene has 21 transcripts (splice variants), 287 orthologues, 43 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 12.9), thyroid (RPKM 5.9) and 24 other tissues.
Summary
This gene encodes a member of the Myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]
MYO9A Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_006901.4 | NP_008832.2 | unconventional myosin-IXa |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15644318 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cell junction assembly |
IMP
IMP: Inferred from mutant phenotype
|
22891260 | GOA |
| involved in establishment of epithelial cell apical/basal polarity |
IMP
IMP: Inferred from mutant phenotype
|
22891260 | GOA |
MYO9A Protein Structure
RA: Ras association (RalGDS/AF-6) domain (15 - 111)
Myosin_head: Myosin head (motor domain) (149 - 692)
Myosin_head: Myosin head (motor domain) (882 - 1004)
IQ: IQ calmodulin-binding motif (1043 - 1062)
IQ: IQ calmodulin-binding motif (1076 - 1094)
IQ: IQ calmodulin-binding motif (1116 - 1136)
IQ: IQ calmodulin-binding motif (1139 - 1159)
RhoGAP: RhoGAP domain (2076 - 2223)
- 0
- 400
- 800
- 1200
- 1600
- 2000
- 2400
- 2548 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
unconventional myosin-IXa |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
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| Presynaptic Congenital Myasthenic Syndromes |
|
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| Congenital Myasthenic Syndrome |
|
|
| Bardet-Biedl Syndrome |
|
|
| Myopathy, Myofibrillar, 8 |
|
|
| Myopathy, Centronuclear, 4 |
|
|
| Bardet-Biedl Syndrome 7 |
|
|
| Myopathy, Centronuclear, 5 |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
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| Myopathy, Myofibrillar, 7 |
|
|
| Myasthenic Syndrome, Congenital, 14 |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
|
| Chromosome 17q23.1-Q23.2 Deletion Syndrome |
|
|
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
|
| Neuromuscular Junction Disease |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | MYO9A | RGD | RGD:621395 |
| Mus musculus | MYO9A | MGD | MGI:107735 |
| Canis familiaris | MYO9A | VGNC | VGNC:43574 |
| Felis catus | MYO9A | VGNC | VGNC:68401 |
| Bos taurus | MYO9A | VGNC | VGNC:97290 |
| Macaca mulatta | MYO9A | VGNC | VGNC:75120 |
| Others | MYO9A | NCBI |