MYO1A (myosin IA)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4640
Gene name Myosin IA
Gene symbol MYO1A
Synonyms (NCBI Gene)
BBMIDFNA48DIAR15MIHCMYHL
Chromosome 12
Chromosome location 12q13.3
Summary This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conv
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs121909305 G>A,C,T Conflicting-interpretations-of-pathogenicity, benign, likely-benign Coding sequence variant, stop gained, synonymous variant, missense variant
rs147147276 C>A,T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT023554 hsa-miR-1-3p Proteomics;Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (37)
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:0005516 Function Calmodulin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601478 7595 ENSG00000166866
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBC5
Protein name Unconventional myosin-Ia (Brush border myosin I) (BBM-I) (BBMI) (Myosin I heavy chain) (MIHC)
Protein function Involved in directing the movement of organelles along actin filaments.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00063 Myosin_head 10 → 681 Myosin head (motor domain) Domain
PF00612 IQ 698 → 718 IQ calmodulin-binding motif Motif
PF00612 IQ 744 → 764 IQ calmodulin-binding motif Motif
PF06017 Myosin_TH1 847 → 1042 Unconventional myosin tail, actin- and lipid-binding Domain
Sequence 
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPE
FIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAA
VCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITN
YLLEKSRLVKQLKGERNFHIFYQLLAGADEQLLKALKLERDTTGYAYLNHEVSRVDGMDD
ASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVR
EIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNR
INESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEY
KREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHG
HYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQH
PLLRSLFPEGNPKQASLKRPPTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQF
SSDLVATQARYLGLLENVRVRRAGYAHRQGYGPFLERYRLLSRSTWPHWNGGDREGVEKV
LGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQLATLIQKIYRGWRCRTHYQLM
RKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSEAALTLADFIY
KSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQ
VEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVK
KVNRGNGKTSSRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEM
SSVGSKGDFLLVSEHVIELLTKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGP
AGGDNSKLRYKKKGSHCLEVTVQ
Sequence length 1043
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Motor proteins
Pathogenic Escherichia coli infection 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs755221 RCV005920298
Autosomal dominant nonsyndromic hearing loss 48 Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance rs151187460, rs148808080, rs875989945, rs199924915, rs147101055, rs121909305, rs864309476, rs55679042, rs61753849, rs33962952, rs121909306 RCV000211654
RCV000211623
RCV000211571
RCV000211600
RCV000211694
RCV000008623
RCV000008624
RCV000008625
RCV000008626
RCV000008627
RCV000008628
Congenital diarrhea Conflicting classifications of pathogenicity rs151269703 RCV004992022
Diarrhea 15, congenital Conflicting classifications of pathogenicity rs151269703 RCV005256512
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 36759514
Adenocarcinoma of Lung Associate 32998690
Barrett Esophagus Associate 36759514
Charcot Marie Tooth Disease Associate 26517670
Colorectal Neoplasms Associate 22307608
Hearing Loss Associate 25080041
Hearing Loss Noise Induced Associate 30947719
Intestinal Neoplasms Associate 22307608
Melanoma Associate 30042403
Neoplasms Inhibit 22307608