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    UNC45A unc-45 myosin chaperone A [ Homo sapiens (human) ]

    Gene ID: 55898, updated on 28-Oct-2024

    Summary

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    Official Symbol
    UNC45Aprovided by HGNC
    Official Full Name
    unc-45 myosin chaperone Aprovided by HGNC
    Primary source
    HGNC:HGNC:30594
    See related
    Ensembl:ENSG00000140553 MIM:611219; AllianceGenome:HGNC:30594
    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
    OOHE; SMAP1; SMAP-1; GCUNC45; UNC-45A; GC-UNC45; GCUNC-45; IRO039700
    Summary
    This gene encodes a regulatory component of the progesterone receptor/heat shock protein 90 chaperoning complex, which functions in the assembly and folding of the progesterone receptor. The encoded protein is thought to be essential for normal cell proliferation, and for the accumulation of myosin during development of muscle cells. [provided by RefSeq, Sep 2018]
    Expression
    Ubiquitous expression in prostate (RPKM 14.4), skin (RPKM 14.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UNC45A in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (90930180..90954093)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (88689763..88713676)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91473410..91497323)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10099 Neighboring gene FES proto-oncogene, tyrosine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10101 Neighboring gene mannosidase alpha class 2A member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6833 Neighboring gene HD domain containing 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:91496471-91496971 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:91497796-91498350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6835 Neighboring gene RCCD1 and UNC45A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6836 Neighboring gene RCC1 domain containing 1 Neighboring gene PRC1 antisense RNA 1 Neighboring gene protein regulator of cytokinesis 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:91526592-91527791

    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. UNC-45A breaks the microtubule lattice independently of its effects on non-muscle myosin II. Habicht J, et al. J Cell Sci, 2021 Jan 8. PMID 33262310, Free PMC Article
    2. Myosin II co-chaperone general cell UNC-45 overexpression is associated with ovarian cancer, rapid proliferation, and motility. Bazzaro M, et al. Am J Pathol, 2007 Nov. PMID 17872978, Free PMC Article
    3. UNC-45A Is a Novel Microtubule-Associated Protein and Regulator of Paclitaxel Sensitivity in Ovarian Cancer Cells. Mooneyham A, et al. Mol Cancer Res, 2019 Feb. PMID 30322860, Free PMC Article
    4. Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A. Almaas R, et al. J Hepatol, 2023 Oct. PMID 37328071
    5. Differential turnover of myosin chaperone UNC-45A isoforms increases in metastatic human breast cancer. Guo W, et al. J Mol Biol, 2011 Sep 23. PMID 21802425

    See all (136) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
      Title: Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
    2. A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy.
      Title: A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy.
    3. UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
      Title: UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
    4. A myosin chaperone, UNC-45A, is a novel regulator of intestinal epithelial barrier integrity and repair.
      Title: A myosin chaperone, UNC-45A, is a novel regulator of intestinal epithelial barrier integrity and repair.
    5. UNC-45A breaks the microtubule lattice independently of its effects on non-muscle myosin II.
      Title: UNC-45A breaks the microtubule lattice independently of its effects on non-muscle myosin II.
    6. In cells, UNC-45A binds to and destabilizes mitotic spindles, and its depletion causes severe defects in chromosome congression and segregation. UNC-45A is overexpressed in human clinical specimens from chemoresistant ovarian cancer and that UNC-45A-overexpressing cells resist chromosome missegregation and aneuploidy when treated with clinically relevant concentrations of paclitaxel.
      Title: UNC-45A Is a Novel Microtubule-Associated Protein and Regulator of Paclitaxel Sensitivity in Ovarian Cancer Cells.
    7. The co-chaperone UNC45A is essential for the expression of mitotic kinase NEK7 and tumorigenesis.
      Title: The co-chaperone UNC45A is essential for the expression of mitotic kinase NEK7 and tumorigenesis.
    8. A transient induction of the human UNC45-GC, but not UNC45-SM, could rescue the defective endocytosis in these she4Delta cells at 39 degrees C, irrespective of whether they possessed Hsp90alpha or Hsp90beta.
      Title: UCS protein function is partially restored in the Saccharomyces cerevisiae she4 mutant with expression of the human UNC45-GC, but not UNC45-SM.
    9. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for cholestasis, congenital diarrhea, impaired hearing, and bone fragility.
      Title: Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
    10. UNC-45a promotes generation of contractile actomyosin bundles through synchronized non-muscle myosin II folding and filament-assembly activities.
      Title: UNC-45a promotes myosin folding and stress fiber assembly.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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
    Osteootohepatoenteric syndrome
    MedGen: C5543557 OMIM: 619377 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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 NL4-3 replication requires UNC45A as replication is inhibited when UNC45A is deleted through CRISPR/Cas9 genome editing PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol HIV-1 IN is identified to have a physical interaction with unc-45 homolog A (C. elegans) (UNC45A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10043

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Hsp90 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cadherin binding HDA PubMed 
    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 muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    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 A
    Names
    general cell UNC45
    smooth muscle cell associated protein-1
    unc-45 homolog A

    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_061633.1 RefSeqGene

      Range
      10106..28914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039675.2 → NP_001034764.1  protein unc-45 homolog A isoform 3

      See identical proteins and their annotated locations for NP_001034764.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has a longer 5' UTR, and uses an alternate in-frame splice site in the 5' coding region, compared to variant 2. The encoded isoform (3) is shorter, compared to isoform 2.
      Source sequence(s)
      AK125721, BC006214
      Consensus CDS
      CCDS42082.1
      UniProtKB/TrEMBL
      A0A1W2PNX8
      Related
      ENSP00000377816.2, ENST00000394275.7
      Conserved Domains (6) summary
      cd00020
      Location:669 → 788
      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]
      pfam00515
      Location:77 → 110
      TPR_1; Tetratricopeptide repeat
      pfam11701
      Location:348 → 490
      UNC45-central; Myosin-binding striated muscle assembly central
      pfam13414
      Location:7 → 73
      TPR_11; TPR repeat
      sd00043
      Location:753 → 788
      ARM; armadillo repeat [structural motif]

    2. NM_001323619.1 → NP_001310548.1  protein unc-45 homolog A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC068831
      Consensus CDS
      CCDS10367.1
      UniProtKB/Swiss-Prot
      A8K6F7, Q7L3Y6, Q9H3U1, Q9H3U8, Q9NSE8, Q9NSE9
      UniProtKB/TrEMBL
      A0A1W2PNX8
      Conserved Domains (4) summary
      sd00006
      Location:21 → 49
      TPR; TPR repeat [structural motif]
      sd00043
      Location:768 → 803
      ARM; armadillo repeat [structural motif]
      pfam11701
      Location:363 → 505
      UNC45-central; Myosin-binding striated muscle assembly central
      cl26005
      Location:23 → 144
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    3. NM_001323620.2 → NP_001310549.1  protein unc-45 homolog A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC068831
      Conserved Domains (2) summary
      sd00043
      Location:623 → 658
      ARM; armadillo repeat [structural motif]
      pfam11701
      Location:218 → 360
      UNC45-central; Myosin-binding striated muscle assembly central

    4. NM_001323621.2 → NP_001310550.1  protein unc-45 homolog A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC068831
      Consensus CDS
      CCDS42082.1
      UniProtKB/TrEMBL
      A0A1W2PNX8
      Conserved Domains (6) summary
      cd00020
      Location:669 → 788
      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]
      pfam00515
      Location:77 → 110
      TPR_1; Tetratricopeptide repeat
      pfam11701
      Location:348 → 490
      UNC45-central; Myosin-binding striated muscle assembly central
      pfam13414
      Location:7 → 73
      TPR_11; TPR repeat
      sd00043
      Location:753 → 788
      ARM; armadillo repeat [structural motif]

    5. NM_018671.5 → NP_061141.2  protein unc-45 homolog A isoform 2

      See identical proteins and their annotated locations for NP_061141.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (2).
      Source sequence(s)
      AB014736, BC006214, DC382051
      Consensus CDS
      CCDS10367.1
      UniProtKB/Swiss-Prot
      A8K6F7, Q7L3Y6, Q9H3U1, Q9H3U8, Q9NSE8, Q9NSE9
      UniProtKB/TrEMBL
      A0A1W2PNX8
      Related
      ENSP00000407487.2, ENST00000418476.2
      Conserved Domains (4) summary
      sd00006
      Location:21 → 49
      TPR; TPR repeat [structural motif]
      sd00043
      Location:768 → 803
      ARM; armadillo repeat [structural motif]
      pfam11701
      Location:363 → 505
      UNC45-central; Myosin-binding striated muscle assembly central
      cl26005
      Location:23 → 144
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      90930180..90954093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432844.1 → XP_047288800.1  protein unc-45 homolog A isoform X1

      UniProtKB/Swiss-Prot
      A8K6F7, Q7L3Y6, Q9H3U1, Q9H3U8, Q9NSE8, Q9NSE9

    2. XM_017022407.3 → XP_016877896.1  protein unc-45 homolog A isoform X2

      Conserved Domains (2) summary
      sd00043
      Location:330 → 365
      ARM; armadillo repeat [structural motif]
      pfam11701
      Location:1 → 67
      UNC45-central; Myosin-binding striated muscle assembly central

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      88689763..88713676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378426.1 → XP_054234401.1  protein unc-45 homolog A isoform X1

      UniProtKB/Swiss-Prot
      A8K6F7, Q7L3Y6, Q9H3U1, Q9H3U8, Q9NSE8, Q9NSE9

    2. XM_054378427.1 → XP_054234402.1  protein unc-45 homolog A isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017979.1: Suppressed sequence

      Description
      NM_017979.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3U1.1 GenPept UniProtKB/Swiss-Prot:Q9H3U1

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