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

Gene ID: 146862, updated on 23-Nov-2021

Summary

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
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

See UNC45B in Genome Data Viewer
Location:
17q12
Exon count:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (35147793..35189345)
105.20201022 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 RAD51 paralog D Neighboring gene fibronectin type III domain containing 8 Neighboring gene notchless homolog 1 Neighboring gene Sharpr-MPRA regulatory region 3440/5406 Neighboring gene Spi-C transcription factor (Spi-1/PU.1 related) pseudogene Neighboring gene solute carrier family 35 member G3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
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
PubMed 
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 cytosol IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
    5448..46529
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033576.2NP_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:716831
    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:634
    TPR; TPR repeat [structural motif]
    pfam11701
    Location:344489
    UNC45-central; Myosin-binding striated muscle assembly central
    pfam13414
    Location:573
    TPR_11; TPR repeat
    sd00043
    Location:172208
    ARM; armadillo repeat [structural motif]
  2. NM_001267052.2NP_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:716831
    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:634
    TPR; TPR repeat [structural motif]
    pfam11701
    Location:344489
    UNC45-central; Myosin-binding striated muscle assembly central
    pfam13414
    Location:573
    TPR_11; TPR repeat
    sd00043
    Location:172208
    ARM; armadillo repeat [structural motif]
  3. NM_001308281.1NP_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:634
    TPR; TPR repeat [structural motif]
    sd00043
    Location:172208
    ARM; armadillo repeat [structural motif]
    pfam11701
    Location:344484
    UNC45-central; Myosin-binding striated muscle assembly central
    cl26005
    Location:6154
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
  4. NM_173167.3NP_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
    Q8IWX7
    Related
    ENSP00000268876.4, ENST00000268876.9
    Conserved Domains (5) summary
    cd00020
    Location:718833
    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:634
    TPR; TPR repeat [structural motif]
    pfam11701
    Location:344489
    UNC45-central; Myosin-binding striated muscle assembly central
    pfam13414
    Location:573
    TPR_11; TPR repeat
    sd00043
    Location:172208
    ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    35147793..35189345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q8IWX7
    Conserved Domains (4) summary
    sd00006
    Location:634
    TPR; TPR repeat [structural motif]
    sd00043
    Location:172208
    ARM; armadillo repeat [structural motif]
    pfam11701
    Location:344484
    UNC45-central; Myosin-binding striated muscle assembly central
    cl26005
    Location:6154
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
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