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

Gene ID: 146862, updated on 28-Oct-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
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Genomic context

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See UNC45B in Genome Data Viewer
Location:
17q12
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (35147817..35189345)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (36095726..36137280)
RS_2024_09 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

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cardiac myofibrillogenesis is spatiotemporally modulated by the molecular chaperone UNC45B. Lu SH, et al. Stem Cell Reports, 2023 Jul 11. PMID 37295424, Free PMC Article
  2. Structural insight into the UNC-45-myosin complex. Fratev F, et al. Proteins, 2013 Jul. PMID 23408646
  3. 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
  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. 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

See all (18) 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

    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

    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

    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

    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_2024_08

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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