Property Summary

NCBI Gene PubMed Count 23
PubMed Score 85.46
PubTator Score 62.56

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Deafness, Autosomal Dominant 48 1
Disease Target Count P-value
psoriasis 6685 1.3e-25
ulcerative colitis 2087 2.4e-04
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Nonsyndromic deafness 121 3.964 2.0
Disease Target Count Z-score Confidence
Sensorineural hearing loss 107 3.035 1.5

Expression

  Differential Expression (2)

Disease log2 FC p
ulcerative colitis -1.500 2.4e-04
psoriasis -1.200 1.3e-25

Gene RIF (12)

PMID Text
25080041 One missense variant, p.R544W, was found in the MYO1A gene, and in silico analysis suggested that this variant has deleterious effects on protein function.
24616153 Most of the altogether 10 MYO1A mutations are annotated in dbSNP, and population frequencies (dbSNP, 1000 Genomes, Exome Sequencing Project) above 0.1% contradict pathogenicity under a dominant model
23002058 findings suggest that MYO1A has tumor suppressor activity in the normal gastric epithelium but not in the normal endometrium and inactivation of MYO1A either genetically or epigenetically may confer gastric epithelial cells a growth ad
22367206 Myo1a targeting to microvilli is driven by membrane binding potential that is distributed throughout TH1 rather than localized to a single motif.
22307608 results identify MYO1A as a unique tumor-suppressor gene in colorectal cancer and demonstrate that the loss of structural brush border proteins involved in cell polarity are important for tumor development
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18599791 Sensing molecular tension is crucial for a wide array of cellular processes. Myosin I dramatically alters its motile properties in response to tension.
17981900 These data are the first to suggest that mechanical activity is essential for proper localization of Myo1a in microvilli.
16936815 This movement is based on an active and directed process that is facilitated by an acto-NMI complex, establishing for the first time a functional role for a motor complex consisting of actin and a myosin in the nucleus.
12736868 Multiple mutations of MYO1A, a cochlear-expressed gene, were studied in sensorineural hearing loss.
12596055 mapping of a novel autosomal dominant non-syndromic deafness locus, DFNA48, to chromosome 12q13-q14 in an Italian family
11916846 MYO1A (brush border myosin I) dynamics in the brush border of LLC-PK1-CL4 cells

AA Sequence

MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTF      1 - 70
YELKPHIYALANVAYQSLRDRDRDQCILITGESGSGKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNP     71 - 140
VLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADE    141 - 210
QLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVA    211 - 280
DEFQASGIPASGIRDGRGVREIGEMVGLNSEEVERALCSRTMETAKEKVVTALNVMQAQYARDALAKNIY    281 - 350
SRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEY    351 - 420
KREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNA    421 - 490
QRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNNDLLFRDLLQAMWKAQHPLLRSLFPEGNPKQASLKRP    491 - 560
PTAGAQFKSSVAILMKNLYSKSPNYIRCIKPNEHQQRGQFSSDLVATQARYLGLLENVRVRRAGYAHRQG    561 - 630
YGPFLERYRLLSRSTWPHWNGGDREGVEKVLGELSMSSGELAFGKTKIFIRSPKTLFYLEEQRRLRLQQL    631 - 700
ATLIQKIYRGWRCRTHYQLMRKSQILISSWFRGNMQKKCYGKIKASVLLIQAFVRGWKARKNYRKYFRSE    701 - 770
AALTLADFIYKSMVQKFLLGLKNNLPSTNVLDKTWPAAPYKCLSTANQELQQLFYQWKCKRFRDQLSPKQ    771 - 840
VEILREKLCASELFKGKKASYPQSVPIPFCGDYIGLQGNPKLQKLKGGEEGPVLMAEAVKKVNRGNGKTS    841 - 910
SRILLLTKGHVILTDTKKSQAKIVIGLDNVAGVSVTSLKDGLFSLHLSEMSSVGSKGDFLLVSEHVIELL    911 - 980
TKMYRAVLDATQRQLTVTVTEKFSVRFKENSVAVKVVQGPAGGDNSKLRYKKKGSHCLEVTVQ           981 - 1043
//

Text Mined References (22)

PMID Year Title
25080041 2014 The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24616153 2014 Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
23002058 2013 Brush border myosin Ia inactivation in gastric but not endometrial tumors.
22367206 2012 Myosin-1A targets to microvilli using multiple membrane binding motifs in the tail homology 1 (TH1) domain.
22307608 2012 Brush border myosin Ia has tumor suppressor activity in the intestine.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
18599791 2008 Myosin I can act as a molecular force sensor.
17981900 2008 Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a.
16936815 2006 From transcription to transport: emerging roles for nuclear myosin I.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12736868 2003 Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.
12596055 2003 A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11474115 2001 The crystal structure of uncomplexed actin in the ADP state.
10653589 2000 Brush border myosin I (BBMI): a basally localized transcript in human jejunal enterocytes.
9858156 1998 Human brush border myosin-I and myosin-Ic expression in human intestine and Caco-2BBe cells.
8884266 1996 Mapping of unconventional myosins in mouse and human.
8692943 1996 Brush border myosin-I truncated in the motor domain impairs the distribution and the function of endocytic compartments in an hepatoma cell line.
8022818 1994 Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types.
7584027 1994 An expression profile of active genes in human colonic mucosa.
2606897 1989 Immunochemical evidence that myosin I heavy chain-like protein is identical to the 110-kilodalton brush-border protein.