Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
283446
Gene name Gene Name - the full gene name approved by the HGNC.
Myosin IH
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYO1H
Synonyms (NCBI Gene) Gene synonyms aliases
CCHS2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.11
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT620411 hsa-miR-8485 HITS-CLIP 23824327
MIRT620410 hsa-miR-329-3p HITS-CLIP 23824327
MIRT620409 hsa-miR-362-3p HITS-CLIP 23824327
MIRT620408 hsa-miR-6813-3p HITS-CLIP 23824327
MIRT620407 hsa-miR-1228-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000146 Function Microfilament motor activity IBA
GO:0000166 Function Nucleotide binding IEA
GO:0003774 Function Cytoskeletal motor activity IEA
GO:0003779 Function Actin binding IEA
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614636 13879 ENSG00000174527
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
MEGALTARDKVGVQDFVLLDAYTSESAFVDNLRKRFSENLIYTYIGTLLVSVNPYQELGI
YTVSQMELYQGVNFFELPPHVYAIADNAYRMMCAELNNHFILISGESGAGKTEASKKILE
YFAVTCPMTQSLQIARDRLLFSNPVLEAFGNARTLRNDNSSRFGKYMDIQFDFQGIPVGG
HIISYLIEKSRVVYQNEGERNFHIFYQLLAGGEEERLSYLGLERDPQLYKYLSQGHCAKE
SSISDKNDWKTVSNAFSVIDFTEADLENLFGIIASVLHLGNIGFEEDDQGCATIPDTHEI
KWIAKLLGVHPSVLLEALTHRKIEAKTEEVICPLTLELSVYARDAMAKAVYGRTFTWLVN
KINSSLVNKVGQRILDPLLLLTWKTVIGLLDIYGFEVFDKNGFEQFCINYCNEKLQQLLI
ERTLKAEQAEYEMEGIEWEPIKYFNNKIICDLVEERHKGIISILDEECIRPGPATDLSFL
EKLEEKVGKHAHFETRKLAGPKGRKRIGWMEFRLLHYAGEVTYCTKGFLEKNNDLLYRHL
KEVLCKSKNIILRECFLLAELENRRRPPTVGTQFKNSLSSLLETLISKEPSYIRCIKPND
RKEPSKFDDFLIRHQIKYLGLMEHLRVRRAGFAYRRKYEHFLQRYKSLCPDTWPHWHGPP
AEGVERLIKYIGYKPEEYKLGKTKIFIR
FPRTLFATEDAFEFSKHQLVARIQATYKRCLG
RREYVKKRQAAIKLEAHWRGALARKAIQRRKWAVRIIRKFIKGFISRNKPLCPDNEEFIV
FVRKNYILNLRYHLPKTVLDKSWLRPPGILENASDLLRKMCVRNLVQKYCRGITAERKAM
MQQKVVTSEIFRGRKDGYTESLNQPFVNSRIDEGDINPKVLQLISHEKIQYGVPVIKYDR
KGFKARQRQLILTQKAAYVVELAKIKQKIEYSALKGVSTSNLSDGILVIHVSPEDSKQKG
DAVLQCGHVFEAVTKLVMLVKKENIVNVVQGSLQFFISPGKEGTIVFDTGLEEQVYKNKN
GQLTVVS
VRRKS
Sequence length 1032
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Motor proteins
Pathogenic Escherichia coli infection
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital Central Hypoventilation congenital central hypoventilation syndrome N/A N/A GenCC
Insomnia Insomnia N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Malocclusion Associate 24698832, 25910506
Malocclusion Angle Class III Associate 22196185
Mandibular Injuries Associate 33448167
Retrognathia Associate 33448167