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UNC45B Gene(Protein Coding)

Unc-45 Myosin Chaperone B

GCID:
GC17P035148
GIFtS:
48
Genes Participants
UDN Logo

Aliases for UNC45B Gene

Aliases for UNC45B Gene

  • Unc-45 Myosin Chaperone B 2 3 5
  • Cardiomyopathy Associated 4 2 3
  • UNC-45B 3 4
  • SMUNC45 3 4
  • CMYA4 3 4
  • UNC45 3 4
  • Unc-45 Homolog B (C. Elegans) 2
  • Protein Unc-45 Homolog B 3
  • Striated Muscle UNC45 3
  • Unc-45 Homolog B 3
  • CTRCT43 3

External Ids for UNC45B Gene

Previous HGNC Symbols for UNC45B Gene

  • CMYA4

Previous GeneCards Identifiers for UNC45B Gene

  • GC17P030500
  • GC17P033474
  • GC17P029659

Summaries for UNC45B Gene

Entrez Gene Summary for UNC45B Gene

  • This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

GeneCards Summary for UNC45B Gene

UNC45B (Unc-45 Myosin Chaperone B) is a Protein Coding gene. Diseases associated with UNC45B include Cataract 43 and Early-Onset Posterior Subcapsular Cataract. Gene Ontology (GO) annotations related to this gene include binding and Hsp90 protein binding. An important paralog of this gene is UNC45A.

UniProtKB/Swiss-Prot for UNC45B Gene

  • Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development.

Additional gene information for UNC45B Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UNC45B Gene

Genomics for UNC45B Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for UNC45B Gene

Promoters and enhancers for UNC45B 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
GH17I035146 Promoter/Enhancer 0.9 EPDnew ENCODE 550.8 -0.1 -132 2.9 SOX13 USF1 ZNF24 UNC45B NLE1 SLFN12L LIG3 RFFL
GH17I035241 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 7.7 +96.1 96100 5.7 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 FOS SLFN5 LOC105371932 UNC45B NLE1
GH17I035212 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +67.3 67293 5.4 PKNOX1 ETV1 ZNF133 BATF GABPA NCOA2 OSR2 PRDM6 ZNF157 CUX1 SLFN5 NLE1 SLFN12L AP2B1 LINC02001 UNC45B ZNF830 SLC35G3
GH17I035217 Enhancer 0.8 Ensembl ENCODE dbSUPER 10.4 +71.1 71076 2.1 CEBPB FOS NR2F2 SLFN5 UNC45B NLE1 SLFN12L SLC35G3
GH17I035185 Enhancer 0.6 FANTOM5 11.4 +38.2 38198 0.2 PKNOX1 IKZF1 NBN ATF7 EBF1 BATF SPI1 SLFN5 UNC45B NLE1 SLFN12L RFFL ENSG00000266981 GC17M035176
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UNC45B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UNC45B gene promoter:

Genomic Locations for UNC45B Gene

Genomic Locations for UNC45B Gene
chr17:35,147,798-35,189,345
(GRCh38/hg38)
Size:
41,548 bases
Orientation:
Plus strand
chr17:33,474,836-33,516,364
(GRCh37/hg19)

Genomic View for UNC45B Gene

Genes around UNC45B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNC45B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UNC45B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for UNC45B Gene

Proteins for UNC45B Gene

Products:

  1. Antibody
  2. Protein
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  • Protein details for UNC45B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWX7-UN45B_HUMAN
    Recommended name:
    Protein unc-45 homolog B
    Protein Accession:
    Q8IWX7
    Secondary Accessions:
    • Q495Q8
    • Q495Q9

    Protein attributes for UNC45B Gene

    Size:
    931 amino acids
    Molecular mass:
    103733 Da
    Quaternary structure:
    • Interacts with HSP90 in an ATP-independent manner.

    Alternative splice isoforms for UNC45B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UNC45B Gene

Protein Expression for UNC45B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for UNC45B Gene

No Post-translational modifications

Other Protein References for UNC45B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UNC45B Gene

Domains & Families for UNC45B Gene

Gene Families for UNC45B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for UNC45B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for UNC45B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with UNC45B: view

No data available for UniProtKB/Swiss-Prot for UNC45B Gene

Function for UNC45B Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for UNC45B Gene

UniProtKB/Swiss-Prot Function:
Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development.

Phenotypes From GWAS Catalog for UNC45B Gene

Gene Ontology (GO) - Molecular Function for UNC45B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25036637
GO:0051879 Hsp90 protein binding IEA --
genes like me logo Genes that share ontologies with UNC45B: view
genes like me logo Genes that share phenotypes with UNC45B: view

Human Phenotype Ontology for UNC45B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UNC45B Gene

Localization for UNC45B Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNC45B Gene

Cytoplasm, cytosol.

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 UNC45B gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UNC45B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with UNC45B: view

Pathways & Interactions for UNC45B Gene

SuperPathways for UNC45B Gene

PathCards logo More details on SuperPathways for UNC45B
No Data Available

Gene Ontology (GO) - Biological Process for UNC45B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye ISS --
GO:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development IEA --
GO:0030154 cell differentiation IEA --
GO:0061077 chaperone-mediated protein folding IEA --
genes like me logo Genes that share ontologies with UNC45B: view

No data available for Pathways by source and SIGNOR curated interactions for UNC45B Gene

Drugs & Compounds for UNC45B Gene

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  1. Drug
No Compound Related Data Available

Transcripts for UNC45B Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for UNC45B Gene

(5) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(26) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UNC45B Gene

Unc-45 homolog B (C. elegans):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UNC45B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
SP1:
SP2:
SP3:

Relevant External Links for UNC45B Gene

GeneLoc Exon Structure for
UNC45B
ECgene alternative splicing isoforms for
UNC45B

Expression for UNC45B Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UNC45B Gene

mRNA expression in normal human tissues for UNC45B Gene
mRNA expression by GTEx for UNC45B GenemRNA expression by BioGPS for UNC45B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UNC45B Gene

This gene is overexpressed in Muscle - Skeletal (x21.6), Heart - Left Ventricle (x18.5), and Heart - Atrial Appendage (x10.1).

Protein differential expression in normal tissues from HIPED for UNC45B Gene

This gene is overexpressed in Fetal heart (49.0) and Heart (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UNC45B Gene



Protein tissue co-expression partners for UNC45B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UNC45B Gene:

UNC45B

SOURCE GeneReport for Unigene cluster for UNC45B Gene:

Hs.379636

mRNA Expression by UniProt/SwissProt for UNC45B Gene:

Q8IWX7-UN45B_HUMAN
Tissue specificity: Expressed in eye lens tissues.

Evidence on tissue expression from TISSUES for UNC45B Gene

  • Heart(4.6)
  • Muscle(3.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UNC45B Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with UNC45B: view

Orthologs for UNC45B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UNC45B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia UNC45B 33 34
  • 99.21 (n)
dog
(Canis familiaris)
 Mammalia UNC45B 33 34
  • 91.53 (n)
cow
(Bos Taurus)
 Mammalia UNC45B 33 34
  • 89.99 (n)
mouse
(Mus musculus)
 Mammalia Unc45b 33 16 34
  • 88.77 (n)
rat
(Rattus norvegicus)
 Mammalia Unc45b 33
  • 87.83 (n)
oppossum
(Monodelphis domestica)
 Mammalia UNC45B 34
  • 83 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 44 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves UNC45B 33 34
  • 75.82 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 79 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia unc45b 33
  • 70.38 (n)
Str.11279 33
zebrafish
(Danio rerio)
 Actinopterygii unc45b 33 34
  • 69.29 (n)
unc45r 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003727 33
  • 51.42 (n)
fruit fly
(Drosophila melanogaster)
 Insecta unc-45 33 34
  • 49.16 (n)
worm
(Caenorhabditis elegans)
 Secernentea unc-45 33 34
  • 45.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TOM70 34
  • 14 (a)
 ManyToMany
TOM71 34
  • 13 (a)
 ManyToMany
Species where no ortholog for UNC45B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for UNC45B Gene

ENSEMBL:
Gene Tree for UNC45B (if available)
TreeFam:
Gene Tree for UNC45B (if available)

Paralogs for UNC45B Gene

Paralogs for UNC45B Gene

(1) SIMAP similar genes for UNC45B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with UNC45B: view

Variants for UNC45B Gene

Sequence variations from dbSNP and Humsavar for UNC45B Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs370424081 pathogenic, Cataract 43, Cataract 43 (CTRCT43) [MIM:616279] 35,183,460(+) C/G/T coding_sequence_variant, missense_variant
VAR_035870 A breast cancer sample p.Asp496His
rs1000047819 -- 35,169,732(+) A/C intron_variant
rs1000126749 -- 35,163,766(+) A/G intron_variant
rs1000192905 -- 35,164,972(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UNC45B Gene

Variant ID Type Subtype PubMed ID
nsv2037 CNV deletion 18451855
esv3892998 CNV loss 25118596
dgv569e214 CNV gain 21293372

Variation tolerance for UNC45B Gene

Residual Variation Intolerance Score: 92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.21; 80.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UNC45B Gene

Human Gene Mutation Database (HGMD)
UNC45B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UNC45B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNC45B Gene

Disorders for UNC45B Gene

MalaCards: The human disease database

(4) MalaCards diseases for UNC45B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

UN45B_HUMAN
  • Cataract 43 (CTRCT43) [MIM:616279]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269 PubMed:24549050}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for UNC45B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UNC45B: view

No data available for Genatlas for UNC45B Gene

Publications for UNC45B Gene

  1. The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. (PMID: 24549050) Hansen L … Pilgrim D (European journal of human genetics : EJHG 2014) 2 3 4 58
  2. UCS proteins: chaperones for myosin and co-chaperones for Hsp90. (PMID: 25487020) Ni W … Odunuga OO (Sub-cellular biochemistry 2015) 2 3 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. 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 58
  5. Two mammalian UNC-45 isoforms are related to distinct cytoskeletal and muscle-specific functions. (PMID: 12356907) Price MG … Epstein HF (Journal of cell science 2002) 3 4 58

Products for UNC45B Gene

Sources for UNC45B Gene

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