Homo sapiens Protein: MYH14 | |||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||
InnateDB Protein | IDBP-383741.5 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | MYH14 | ||||||||||||||||||||||||
Protein Name | myosin, heavy chain 14, non-muscle | ||||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Protein | ENSP00000407879 | ||||||||||||||||||||||||
InnateDB Gene | IDBG-64099 (MYH14) | ||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||
Function | Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. {ECO:0000250}. | ||||||||||||||||||||||||
Subcellular Localization | |||||||||||||||||||||||||
Disease Associations | Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]: A form of non-syndromic 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. {ECO:0000269PubMed:15015131, ECO:0000269PubMed:16222661}. Note=The disease is caused by mutations affecting the gene represented in this entry.Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369]: A complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles. {ECO:0000269PubMed:21480433}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||
Tissue Specificity | High levels of expression are found in brain (highest in corpus callosum), heart, kidney, liver, lung, small intestine, colon and skeletal muscle. Expression is low in organs composed mainly of smooth muscle, such as aorta, uterus and urinary bladder. No detectable expression is found in thymus, spleen, placenta and lymphocytes. {ECO:0000269PubMed:12909352, ECO:0000269PubMed:14594953, ECO:0000269PubMed:19240025}. | ||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||
InterPro |
IPR000048
IQ motif, EF-hand binding site IPR001609 Myosin head, motor domain IPR002928 Myosin tail IPR004009 Myosin, N-terminal, SH3-like IPR008989 Myosin S1 fragment, N-terminal IPR009053 Prefoldin IPR027417 P-loop containing nucleoside triphosphate hydrolase |
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PFAM |
PF00612
PF00063 PF01576 PF02736 |
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PRINTS |
PR00193
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PIRSF | |||||||||||||||||||||||||
SMART |
SM00015
SM00242 |
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TIGRFAMs | |||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||
SwissProt | Q7Z406 | ||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q7Z406 | ||||||||||||||||||||||||
TrEMBL | M0QY43 | ||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 79784 | ||||||||||||||||||||||||
UniGene | Hs.467142 | ||||||||||||||||||||||||
RefSeq | NP_001070654 | ||||||||||||||||||||||||
HUGO | HGNC:23212 | ||||||||||||||||||||||||
OMIM | 608568 | ||||||||||||||||||||||||
CCDS | CCDS46151 | ||||||||||||||||||||||||
HPRD | 10543 | ||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AB111886 AB290169 AC008655 AC010515 AC020906 AK023943 AY165122 AY203926 BC000676 BC004396 BC007877 BC018933 BC129803 BG468611 CR936653 FJ041910 | ||||||||||||||||||||||||
GenPept | AAH00676 AAH04396 AAH07877 AAH18933 AAI29804 AAO39147 AAP34449 ACM78630 BAB14735 BAC98374 BAG06723 CAI56791 | ||||||||||||||||||||||||