Gene Gene information from NCBI Gene database.
Entrez ID 283446
Gene name Myosin IH
Gene symbol MYO1H
Synonyms (NCBI Gene)
CCHS2
Chromosome 12
Chromosome location 12q24.11
miRNA miRNA information provided by mirtarbase database.
145
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614636 13879 ENSG00000174527
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction Pathogenic; Likely pathogenic rs1872134198, rs773351711 RCV001580373
RCV002466293
Associations from Text MiningDisease 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