UNC45B Gene (Protein Coding)

Unc-45 Myosin Chaperone B

GC17P035148
GIFtS:
40
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 ... See more...

Aliases for UNC45B Gene

Aliases for UNC45B Gene

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

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 Summary 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 , Rfam classification and piRNA Summary for UNC45B Gene

Genomics for UNC45B Gene

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
GH17J035146 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 750.6 -0.1 -95 3 MAFK ZNF24 USF1 ZFP91 UNC45B NLE1 SLFN12L LIG3 RFFL
GH17J035149 Enhancer 0.2 Ensembl 750.6 +1.8 1803 0.4 AB330785-001 RF02543-021 UNC45B SLFN12L
GH17J035237 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.7 +94.6 94572 8.8 ZNF785 SIN3A ZBTB40 SP1 CTCF SREBF1 POLR2A USF2 ZNF362 NFYC SLFN5 ENSG00000266947 LOC105371932 LIG3 ZNF830 NLE1 UNC45B piR-38344-057 lnc-SLC35G3-3
GH17J035212 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 10.7 +67.3 67293 5.4 ZNF133 MAFK PKNOX1 ZNF157 OSR2 GABPA CUX1 BATF PRDM6 YY1 SLFN5 NLE1 SNHG30 SLFN12L AP2B1 UNC45B ZNF830 lnc-SLC35G3-3 ENSG00000266947
GH17J035187 Promoter/Enhancer 0.8 Ensembl ENCODE 11.4 +41.1 41104 2.2 POLR2A ZNF121 ZNF680 CEBPB EP300 ZFHX2 ENSG00000266981 lnc-UNC45B-1 SLFN5 UNC45B NLE1 SLFN12L PEX12 LOC100130114
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UNC45B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UNC45B gene promoter:
  • c-Ets-1
  • CREB
  • deltaCREB
  • Nkx2-5
  • p53
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

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)
Size:
41,529 bases
Orientation:
Plus strand

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

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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 (By similarity). Interacts with UBE4B; the interaction may target UNC45B for proteasomal degradation (PubMed:17369820).

    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

Protein Domains for UNC45B Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UNC45B Gene

GenScript: Design optimal peptide antigens:
  • Unc-45 homolog B (C. elegans), isoform CRA_b (E1P642_HUMAN)
  • SMUNC45 (UN45B_HUMAN)
genes like me logo Genes that share domains with UNC45B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for UNC45B Gene

Function for UNC45B Gene

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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 IBA 21873635
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

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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 4
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

PathCards logo

SuperPathways for UNC45B Gene

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 IBA 21873635
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

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for UNC45B Gene

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

CRISPR Products

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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

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  1. Primer
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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 BioGPS for UNC45B GenemRNA expression by GTEx 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 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 32
  • 99.21 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia UNC45B 33 32
  • 91.53 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia UNC45B 33 32
  • 89.99 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Unc45b 17 33 32
  • 88.77 (n)
rat
(Rattus norvegicus)
 Mammalia Unc45b 32
  • 87.83 (n)
oppossum
(Monodelphis domestica)
 Mammalia UNC45B 33
  • 83 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 44 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves UNC45B 33 32
  • 75.82 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 79 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia unc45b 32
  • 70.38 (n)
Str.11279 32
zebrafish
(Danio rerio)
 Actinopterygii unc45b 33 32
  • 69.29 (n)
 OneToOne
unc45r 32
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003727 32
  • 51.42 (n)
fruit fly
(Drosophila melanogaster)
 Insecta unc-45 33 32
  • 49.16 (n)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea unc-45 33 32
  • 45.03 (n)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TOM70 33
  • 14 (a)
 ManyToMany
TOM71 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for UNC45B: view image

Paralogs for UNC45B Gene

Paralogs for UNC45B Gene

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

  • UN45B_HUMAN
  • H0UID2_HUMAN
genes like me logo Genes that share paralogs with UNC45B: view

Variants for UNC45B Gene

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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
rs577155361 uncertain-significance, Inborn genetic diseases 35,180,636(+) 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

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

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

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, 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 56
  2. UCS proteins: chaperones for myosin and co-chaperones for Hsp90. (PMID: 25487020) Ni W … Odunuga OO (Sub-cellular biochemistry 2015) 2 3 56
  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 43 56
  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 56
  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 56

ExternalLinks

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