Human Gene MYO1A (ENST00000300119.8) from GENCODE V44
Description: Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA. (from RefSeq NM_005379) RefSeq Summary (NM_005379): This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic 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 autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]. Gencode Transcript: ENST00000300119.8 Gencode Gene: ENSG00000166866.13 Transcript (Including UTRs) Position: hg38 chr12:57,028,517-57,050,129 Size: 21,613 Total Exon Count: 28 Strand: - Coding Region Position: hg38 chr12:57,028,755-57,048,323 Size: 19,569 Coding Exon Count: 27
ID:MYO1A_HUMAN DESCRIPTION: RecName: Full=Unconventional myosin-Ia; AltName: Full=Brush border myosin I; Short=BBM-I; Short=BBMI; AltName: Full=Myosin I heavy chain; Short=MIHC; FUNCTION: Involved in directing the movement of organelles along actin filaments (Potential). DISEASE: Defects in MYO1A are the cause of deafness autosomal dominant type 48 (DFNA48) [MIM:607841]. DFNA48 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. SIMILARITY: Contains 3 IQ domains. SIMILARITY: Contains 1 myosin head-like domain. CAUTION: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-1 (MYH1).
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00612 - IQ calmodulin-binding motif PF00063 - Myosin head (motor domain) PF06017 - Unconventional myosin tail, actin- and lipid-binding
ModBase Predicted Comparative 3D Structure on Q9UBC5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.