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    UNC45B unc-45 myosin chaperone B [ Homo sapiens (human) ]

    Gene ID: 146862, updated on 5-Mar-2024

    Summary

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    Official Symbol
    UNC45Bprovided by HGNC
    Official Full Name
    unc-45 myosin chaperone Bprovided by HGNC
    Primary source
    HGNC:HGNC:14304
    See related
    Ensembl:ENSG00000141161 MIM:611220; AllianceGenome:HGNC:14304
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMYA4; MFM11; UNC45; CTRCT43; SMUNC45; UNC-45B
    Summary
    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]
    Expression
    Restricted expression toward heart (RPKM 36.4) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q12
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35147817..35189345)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36095726..36137280)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33474836..33516364)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RAD51L3-RFFL readthrough Neighboring gene MPRA-validated peak2815 silencer Neighboring gene RNA, U6 small nuclear 840, pseudogene Neighboring gene RAD51 paralog D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12059 Neighboring gene fibronectin type III domain containing 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:33468753-33469630 Neighboring gene notchless homolog 1 Neighboring gene Sharpr-MPRA regulatory region 3440/5406 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:33487621-33487791 Neighboring gene solute carrier family 35 member G3 Neighboring gene Spi-C transcription factor pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Thermally-induced structural changes in an armadillo repeat protein suggest a novel thermosensor mechanism in a molecular chaperone. Bujalowski PJ, et al. FEBS Lett, 2015 Jan 2. PMID 25436418
    2. Structural insight into the UNC-45-myosin complex. Fratev F, et al. Proteins, 2013 Jul. PMID 23408646
    3. Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores. Donkervoort S, et al. Am J Hum Genet, 2020 Dec 3. PMID 33217308, Free PMC Article
    4. The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. Hansen L, et al. Eur J Hum Genet, 2014 Nov. PMID 24549050, Free PMC Article
    5. UCS proteins: chaperones for myosin and co-chaperones for Hsp90. Ni W, et al. Subcell Biochem, 2015. PMID 25487020

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cardiac myofibrillogenesis is spatiotemporally modulated by the molecular chaperone UNC45B.
      Title: Cardiac myofibrillogenesis is spatiotemporally modulated by the molecular chaperone UNC45B.
    2. Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
      Title: Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
    3. We have characterized a human UNC45B mutation in a Danish family with autosomal dominant cataract developing in early childhood.
      Title: The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.
    4. temperature-dependent structural changes in the UCS chaperone domain of UNC-45B that occur within a physiologically relevant heat-shock range.
      Title: Thermally-induced structural changes in an armadillo repeat protein suggest a novel thermosensor mechanism in a molecular chaperone.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cataract 43
    MedGen: C4225389 OMIM: 616279 GeneReviews: Not available
    		Compare labs
    Myofibrillar myopathy 11
    MedGen: C5543038 OMIM: 619178 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38610, MGC119540, MGC119541

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Hsp90 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chaperone-mediated protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lens development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in A band IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein unc-45 homolog B
    Names
    cardiomyopathy associated 4
    striated muscle UNC45
    unc-45 homolog B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042129.1 RefSeqGene

      Range
      5001..46527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033576.2 → NP_001028748.1  protein unc-45 homolog B isoform 2

      See identical proteins and their annotated locations for NP_001028748.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site compared to variant 1. It encodes isoform 2, which is shorter than isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AF539794, AL832355, BX647642
      Consensus CDS
      CCDS45648.1
      UniProtKB/Swiss-Prot
      Q8IWX7
      Conserved Domains (5) summary
      cd00020
      Location:716 → 831
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00006
      Location:6 → 34
      TPR; TPR repeat [structural motif]
      pfam11701
      Location:344 → 489
      UNC45-central; Myosin-binding striated muscle assembly central
      pfam13414
      Location:5 → 73
      TPR_11; TPR repeat
      sd00043
      Location:172 → 208
      ARM; armadillo repeat [structural motif]

    2. NM_001267052.2 → NP_001253981.1  protein unc-45 homolog B isoform 2

      See identical proteins and their annotated locations for NP_001253981.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site compared to variant 1. It encodes isoform 2, which is shorter than isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AL832355, AL833281, BX647642
      Consensus CDS
      CCDS45648.1
      UniProtKB/Swiss-Prot
      Q8IWX7
      Related
      ENSP00000378071.2, ENST00000394570.7
      Conserved Domains (5) summary
      cd00020
      Location:716 → 831
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00006
      Location:6 → 34
      TPR; TPR repeat [structural motif]
      pfam11701
      Location:344 → 489
      UNC45-central; Myosin-binding striated muscle assembly central
      pfam13414
      Location:5 → 73
      TPR_11; TPR repeat
      sd00043
      Location:172 → 208
      ARM; armadillo repeat [structural motif]

    3. NM_001308281.1 → NP_001295210.1  protein unc-45 homolog B isoform 3

      See identical proteins and their annotated locations for NP_001295210.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two in-frame exons compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AC022916, AL832355, AL833281, BC101062
      Consensus CDS
      CCDS76993.1
      UniProtKB/Swiss-Prot
      Q8IWX7
      Related
      ENSP00000468335.1, ENST00000591048.2
      Conserved Domains (4) summary
      sd00006
      Location:6 → 34
      TPR; TPR repeat [structural motif]
      sd00043
      Location:172 → 208
      ARM; armadillo repeat [structural motif]
      pfam11701
      Location:344 → 484
      UNC45-central; Myosin-binding striated muscle assembly central
      cl26005
      Location:6 → 154
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    4. NM_173167.3 → NP_775259.1  protein unc-45 homolog B isoform 1

      See identical proteins and their annotated locations for NP_775259.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF539794, AL832355, BX647642
      Consensus CDS
      CCDS11292.1
      UniProtKB/Swiss-Prot
      Q495Q8, Q495Q9, Q8IWX7
      Related
      ENSP00000268876.4, ENST00000268876.9
      Conserved Domains (5) summary
      cd00020
      Location:718 → 833
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00006
      Location:6 → 34
      TPR; TPR repeat [structural motif]
      pfam11701
      Location:344 → 489
      UNC45-central; Myosin-binding striated muscle assembly central
      pfam13414
      Location:5 → 73
      TPR_11; TPR repeat
      sd00043
      Location:172 → 208
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      35147817..35189345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024234.2 → XP_016879723.1  protein unc-45 homolog B isoform X1

      UniProtKB/Swiss-Prot
      Q8IWX7
      Conserved Domains (4) summary
      sd00006
      Location:6 → 34
      TPR; TPR repeat [structural motif]
      sd00043
      Location:172 → 208
      ARM; armadillo repeat [structural motif]
      pfam11701
      Location:344 → 484
      UNC45-central; Myosin-binding striated muscle assembly central
      cl26005
      Location:6 → 154
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      36095726..36137280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315208.1 → XP_054171183.1  protein unc-45 homolog B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWX7.1 GenPept UniProtKB/Swiss-Prot:Q8IWX7

    Gene LinkOut

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