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

Gene ID: 55898, updated on 7-Apr-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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Location:
15q26.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (90930180..90954093)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (88689763..88713676)
105.20220307 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
  • 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. 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
  3. UNC-45a promotes myosin folding and stress fiber assembly. Lehtimäki JI, et al. J Cell Biol, 2017 Dec 4. PMID 29055011, Free PMC Article
  4. UNC-45A is required for neurite extension via controlling NMII activation. Iizuka Y, et al. Mol Biol Cell, 2017 May 15. PMID 28356421, Free PMC Article
  5. UNC-45A Is a Nonmuscle Myosin IIA Chaperone Required for NK Cell Cytotoxicity via Control of Lytic Granule Secretion. Iizuka Y, et al. J Immunol, 2015 Nov 15. PMID 26438524, Free PMC Article

See all (116) 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
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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_2023_10

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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