Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4643 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Myosin IE |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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MYO1E |
SynonymsGene synonyms aliases
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FSGS6, HuncM-IC, MYO1C |
ChromosomeChromosome number
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15 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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15q22.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs387906807 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
rs778868018 |
A>C,G |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained |
rs1555411458 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1596351849 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q12965 |
Protein name |
Unconventional myosin-Ie (Myosin-Ic) (Unconventional myosin 1E) |
Protein function |
Actin-based motor molecule with ATPase activity (PubMed:11940582, PubMed:36316095). Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin fil |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00063 |
Myosin_head |
21 → 679 |
Myosin head (motor domain) |
Domain |
PF06017 |
Myosin_TH1 |
719 → 920 |
Unconventional myosin tail, actin- and lipid-binding |
Domain |
PF00018 |
SH3_1 |
1057 → 1102 |
SH3 domain |
Domain |
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Sequence |
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Sequence length |
1108 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Focal segmental glomerulosclerosis |
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 |
rs267606877, rs267607183, rs267606878, rs267606879, rs267606880, rs121907909, rs74315343, rs121908415, rs121908416, rs121908417, rs1554181304, rs121434390, rs121434392, rs121434393, rs121434394, rs121434395, rs387906807, rs778868018, rs397517920, rs386833865, rs1131692055, rs587777741, rs1184529372, rs76492282, rs75462234, rs202128397, rs879255251, rs879255252, rs749740335, rs138656762, rs869025541, rs878853159, rs1393955970, rs748812981, rs1566778651, rs866294686, rs1566777560, rs1566778676, rs1568723797, rs1568725026, rs1569534160, rs1589475328, rs912928648, rs79555199, rs1595166085, rs1596351849, rs1596861969, rs1595163730, rs1588200023, rs779586424, rs759356936, rs1451194842, rs1317776692, rs759055242, rs2066568818 |
23595123, 21756023, 21697813 |
Kidney disease |
Chronic Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
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Nephrotic syndrome |
Nephrotic Syndrome |
rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Genetic steroid-resistant nephrotic syndrome |
Genetic steroid-resistant nephrotic syndrome |
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Glomerular hyalinosis |
Hyalinosis, Segmental Glomerular |
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Glomerulosclerosis |
Focal glomerulosclerosis |
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Hypoalbuminemia |
Hypoalbuminemia |
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Nephritis |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE |
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21756023 |
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