Aliases for MYO1B Gene

Aliases for MYO1B Gene

  • Myosin IB 2 3 5
  • Unconventional Myosin-Ib 3 4
  • MMI-Alpha 3 4
  • MYH-1c 3 4
  • MMIa 3 4
  • Myr1 2 3
  • MYO1B Variant Protein 3
  • Myosin-I Alpha 3
  • Myosin I Alpha 4
  • MYO1B 5

External Ids for MYO1B Gene

Previous GeneCards Identifiers for MYO1B Gene

  • GC02P190429
  • GC02P190830
  • GC02P192091
  • GC02P192312
  • GC02P191935
  • GC02P191818
  • GC02P183969

Summaries for MYO1B Gene

GeneCards Summary for MYO1B Gene

MYO1B (Myosin IB) is a Protein Coding gene. Diseases associated with MYO1B include Deafness, Autosomal Dominant 48 and Scrotum Squamous Cell Carcinoma. Among its related pathways are Pathogenic Escherichia coli infection and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include calmodulin binding and motor activity. An important paralog of this gene is MYO1A.

UniProtKB/Swiss-Prot Summary for MYO1B Gene

  • Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport.

Gene Wiki entry for MYO1B Gene

Additional gene information for MYO1B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYO1B Gene

Genomics for MYO1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYO1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J191245 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +2.0 1982 5.5 CREB1 GATAD2A ATF7 PRDM10 ZNF629 REST TFE3 SOX13 NFKBIZ KDM1A ENSG00000227542 MYO1B STAT4 RF00026-602 RNU6-1045P NABP1
GH02J191262 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 600.4 +17.9 17943 0.3 GATAD2A REST RCOR2 RXRB SP1 CEBPA SOX13 FOXA2 YY1 ZBTB33 MYO1B ENSG00000227542 RF00026-602 RNU6-1045P NABP1
GH02J191217 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 18.3 -26.3 -26284 3.4 CREB1 GATAD2A CTCF PRDM10 ZNF629 FOXA1 PRDM1 ZNF143 RAD21 REST MYO1B ENSG00000227542 piR-61532-163 STAT4
GH02J191165 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE dbSUPER 14.9 -75.4 -75392 8.9 CTCF PRDM10 ZNF629 ZNF692 TARDBP FOXA1 RAD21 REST SP1 PBX2 STAT4 MYO1B RNU6-959P ENSG00000227542 HMGB1P27 lnc-MYO1B-2 ENSG00000280083 lnc-STAT4-2 STAT1
GH02J191302 Enhancer 1 Ensembl ENCODE dbSUPER 20.4 +60.6 60616 8 CTCF FOXA1 IRF2 RFX3 RFX1 CEBPB CTBP1 SMC3 ZNF592 YY1 MYO1B ENSG00000227542 STAT4 RF00026-602 RNU6-1045P NABP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYO1B

Top Transcription factor binding sites by QIAGEN in the MYO1B gene promoter:
  • AML1a
  • AREB6
  • CUTL1
  • Evi-1
  • Lmo2
  • NF-kappaB
  • Pax-4a
  • RelA
  • Sox9

Genomic Locations for MYO1B Gene

Genomic Locations for MYO1B Gene
chr2:191,245,185-191,425,389
(GRCh38/hg38)
Size:
180,205 bases
Orientation:
Plus strand
chr2:192,109,911-192,290,115
(GRCh37/hg19)
Size:
180,205 bases
Orientation:
Plus strand

Genomic View for MYO1B Gene

Genes around MYO1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO1B Gene

Proteins for MYO1B Gene

  • Protein details for MYO1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43795-MYO1B_HUMAN
    Recommended name:
    Unconventional myosin-Ib
    Protein Accession:
    O43795
    Secondary Accessions:
    • O43794
    • Q7Z6L5

    Protein attributes for MYO1B Gene

    Size:
    1136 amino acids
    Molecular mass:
    131985 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MYO1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO1B Gene

Post-translational modifications for MYO1B Gene

  • Ubiquitination at Lys588, Lys952, and Lys986
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for MYO1B
  • Boster Bio Antibodies for MYO1B

No data available for DME Specific Peptides for MYO1B Gene

Domains & Families for MYO1B Gene

Gene Families for MYO1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MYO1B Gene

InterPro:
Blocks:
  • IQ calmodulin-binding region
  • Myosin tail 2
ProtoNet:

Suggested Antigen Peptide Sequences for MYO1B Gene

GenScript: Design optimal peptide antigens:
  • Myosin IB, isoform CRA_a (B0I1S9_HUMAN)
  • Myosin I alpha (MYO1B_HUMAN)
  • MYO1B protein (Q05CR5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43795

UniProtKB/Swiss-Prot:

MYO1B_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO1B: view

Function for MYO1B Gene

Molecular function for MYO1B Gene

UniProtKB/Swiss-Prot Function:
Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport.

Phenotypes From GWAS Catalog for MYO1B Gene

Gene Ontology (GO) - Molecular Function for MYO1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity ISS --
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with MYO1B: view
genes like me logo Genes that share phenotypes with MYO1B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO1B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYO1B Gene

Localization for MYO1B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYO1B gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
endosome 5
extracellular 4
cytosol 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYO1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IBA,ISS --
GO:0005769 early endosome IDA 16219689
GO:0005884 actin filament IDA 16219689
GO:0005886 plasma membrane IDA,ISS --
genes like me logo Genes that share ontologies with MYO1B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYO1B Gene

Pathways & Interactions for MYO1B Gene

PathCards logo

SuperPathways for MYO1B Gene

SuperPathway Contained pathways
1 PAK Pathway
.56
.56
.36
2 Actin Nucleation by ARP-WASP Complex
.66
.35
3 RhoGDI Pathway
.33
.33
4 Delta508-CFTR traffic / ER-to-Golgi in CF
.32
.31
5 Pathogenic Escherichia coli infection
genes like me logo Genes that share pathways with MYO1B: view

Pathways by source for MYO1B Gene

1 KEGG pathway for MYO1B Gene
2 GeneGo (Thomson Reuters) pathways for MYO1B Gene
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
11 Qiagen pathways for MYO1B Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for MYO1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006892 post-Golgi vesicle-mediated transport IMP 21666684
GO:0007015 actin filament organization IBA,IMP 21666684
GO:0030048 actin filament-based movement ISS --
GO:0030050 vesicle transport along actin filament IBA 21873635
GO:0051017 actin filament bundle assembly ISS --
genes like me logo Genes that share ontologies with MYO1B: view

No data available for SIGNOR curated interactions for MYO1B Gene

Drugs & Compounds for MYO1B Gene

No Compound Related Data Available

Transcripts for MYO1B Gene

mRNA/cDNA for MYO1B Gene

5 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO1B

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYO1B Gene

No ASD Table

Relevant External Links for MYO1B Gene

GeneLoc Exon Structure for
MYO1B

Expression for MYO1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYO1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYO1B Gene

This gene is overexpressed in Liver (x7.9).

Protein differential expression in normal tissues from HIPED for MYO1B Gene

This gene is overexpressed in Nasal epithelium (9.2), Bone marrow mesenchymal stem cell (9.1), Islet of Langerhans (7.2), Bone (6.2), and Gallbladder (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYO1B Gene



Protein tissue co-expression partners for MYO1B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYO1B

SOURCE GeneReport for Unigene cluster for MYO1B Gene:

Hs.439620

Evidence on tissue expression from TISSUES for MYO1B Gene

  • Liver(4.6)
  • Skin(4.5)
  • Intestine(3.1)
  • Nervous system(2.7)
  • Kidney(2.5)
  • Lung(2.4)
  • Muscle(2.3)
  • Pancreas(2.2)
  • Heart(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with MYO1B: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO1B Gene

Orthologs for MYO1B Gene

This gene was present in the common ancestor of animals.

Orthologs for MYO1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYO1B 30 31
  • 99.65 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYO1B 31
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MYO1B 30 31
  • 92.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYO1B 30 31
  • 92.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Myo1b 30 17 31
  • 89.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myo1b 30
  • 89.61 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MYO1B 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYO1B 30 31
  • 83.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYO1B 31
  • 90 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii myo1b 30 31
  • 73.13 (n)
OneToOne
wufb39h10 30
Fruit Fly
(Drosophila melanogaster)
Insecta Myo95E 30 31
  • 48 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004403 30
  • 47.69 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToMany
Species where no ortholog for MYO1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MYO1B Gene

ENSEMBL:
Gene Tree for MYO1B (if available)
TreeFam:
Gene Tree for MYO1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYO1B: view image

Paralogs for MYO1B Gene

(36) SIMAP similar genes for MYO1B Gene using alignment to 10 proteins:

  • MYO1B_HUMAN
  • B0I1S9_HUMAN
  • C9JUP5_HUMAN
  • C9JYW1_HUMAN
  • C9K0I9_HUMAN
  • E7EPB4_HUMAN
  • E7EQD9_HUMAN
  • E9PDF6_HUMAN
  • H7C2Y7_HUMAN
  • Q05CR5_HUMAN
genes like me logo Genes that share paralogs with MYO1B: view

Variants for MYO1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYO1B Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
775797 Benign: not provided 191,390,304(+) G/A SYNONYMOUS_VARIANT
775798 Benign: not provided 191,396,434(+) A/G SYNONYMOUS_VARIANT
783992 Benign: not provided 191,296,213(+) C/T SYNONYMOUS_VARIANT
791882 Benign: not provided 191,402,636(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
VAR_014113 A melanoma patient p.Glu969Lys

Additional dbSNP identifiers (rs#s) for MYO1B Gene

Structural Variations from Database of Genomic Variants (DGV) for MYO1B Gene

Variant ID Type Subtype PubMed ID
esv1058530 CNV insertion 17803354
esv3593767 CNV loss 21293372
nsv1136455 CNV deletion 24896259
nsv3084 CNV insertion 18451855

Variation tolerance for MYO1B Gene

Residual Variation Intolerance Score: 2.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYO1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO1B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO1B Gene

Disorders for MYO1B Gene

MalaCards: The human disease database

(7) MalaCards diseases for MYO1B Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal dominant 48
  • dfna48
scrotum squamous cell carcinoma
  • scrotal squamous cell carcinoma
deafness, autosomal dominant 22
  • dfna22
deafness, autosomal recessive 37
  • dfnb37
amebiasis
  • amoebiasis
- elite association - COSMIC cancer census association via MalaCards
Search MYO1B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYO1B

genes like me logo Genes that share disorders with MYO1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYO1B Gene

Publications for MYO1B Gene

  1. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3 41
  2. Myosin Ib modulates the morphology and the protein transport within multi-vesicular sorting endosomes. (PMID: 16219689) Salas-Cortes L … Coudrier E (Journal of cell science 2005) 3 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Identification and overlapping expression of multiple unconventional myosin genes in vertebrate cell types. (PMID: 8022818) Bement WM … Mooseker MS (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3
  5. Identification, characterization and cloning of myr 1, a mammalian myosin-I. (PMID: 8449985) Ruppert C … Bähler M (The Journal of cell biology 1993) 2 3

Products for MYO1B Gene

  • Signalway ELISA kits for MYO1B
  • Signalway Proteins for MYO1B

Sources for MYO1B Gene