Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
283446 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Myosin IH |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
MYO1H |
SynonymsGene synonyms aliases
|
CCHS2 |
ChromosomeChromosome number
|
12 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12q24.11 |
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
|
UniProt ID |
Q8N1T3 |
Protein name |
Unconventional myosin-Ih (Myosin-1H) |
Protein function |
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments |
PDB |
6MBM
,
8EB1
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00063 |
Myosin_head |
13 → 688 |
Myosin head (motor domain) |
Domain |
PF06017 |
Myosin_TH1 |
844 → 1027 |
Unconventional myosin tail, actin- and lipid-binding |
Domain |
|
Sequence |
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Sequence length |
1032 |
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
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital central hypoventilation |
Congenital central hypoventilation |
rs587776626, rs1733878065, rs761018157, rs779557320, rs772448418, rs775006915, rs1733941453, rs73810366 |
28779001 |
Hirschsprung disease |
Hirschsprung Disease |
rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869 |
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Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
29121268 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anxiety disorder |
Anxiety |
|
29942085 |
Bipolar disorder |
Bipolar Disorder |
|
29121268 |
Ganglioneuroblastoma |
Ganglioneuroblastoma |
|
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Ganglioneuroma |
Ganglioneuroma |
|
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Impaired cognition |
Impaired cognition |
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Mental depression |
Major Depressive Disorder |
rs587778876, rs587778877 |
29942085 |
Mood disorder |
Mood Disorders |
|
29942085 |
Ondine syndrome |
Ondine syndrome |
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