Seroatlas · Human Serome Atlas

UNC45B

Protein unc-45 homolog B

Also known as: CMYA4, UN45B_HUMAN, UNC45

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8IWX7
Gene: UNC45B
Ensembl: ENSG00000141161
Chromosome: 17
Canonical length: 931 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

931 residues, UniProt reviewed canonical sequence.

>Q8IWX7|UNC45B
     1  MAEVEAVQLK EEGNRHFQLQ DYKAATNSYS QALKLTKDKA LLATLYRNRA ACGLKTESYV
    61  QAASDASRAI DINSSDIKAL YRRCQALEHL GKLDQAFKDV QRCATLEPRN QNFQEMLRRL
   121  NTSIQEKLRV QFSTDSRVQK MFEILLDENS EADKREKAAN NLIVLGREEA GAEKIFQNNG
   181  VALLLQLLDT KKPELVLAAV RTLSGMCSGH QARATVILHA VRIDRICSLM AVENEEMSLA
   241  VCNLLQAIID SLSGEDKREH RGKEEALVLD TKKDLKQITS HLLDMLVSKK VSGQGRDQAL
   301  NLLNKNVPRK DLAIHDNSRT IYVVDNGLRK ILKVVGQVPD LPSCLPLTDN TRMLASILIN
   361  KLYDDLRCDP ERDHFRKICE EYITGKFDPQ DMDKNLNAIQ TVSGILQGPF DLGNQLLGLK
   421  GVMEMMVALC GSERETDQLV AVEALIHAST KLSRATFIIT NGVSLLKQIY KTTKNEKIKI
   481  RTLVGLCKLG SAGGTDYGLR QFAEGSTEKL AKQCRKWLCN MSIDTRTRRW AVEGLAYLTL
   541  DADVKDDFVQ DVPALQAMFE LAKAGTSDKT ILYSVATTLV NCTNSYDVKE VIPELVQLAK
   601  FSKQHVPEEH PKDKKDFIDM RVKRLLKAGV ISALACMVKA DSAILTDQTK ELLARVFLAL
   661  CDNPKDRGTI VAQGGGKALI PLALEGTDVG KVKAAHALAK IAAVSNPDIA FPGERVYEVV
   721  RPLVRLLDTQ RDGLQNYEAL LGLTNLSGRS DKLRQKIFKE RALPDIENYM FENHDQLRQA
   781  ATECMCNMVL HKEVQERFLA DGNDRLKLVV LLCGEDDDKV QNAAAGALAM LTAAHKKLCL
   841  KMTQVTTQWL EILQRLCLHD QLSVQHRGLV IAYNLLAADA ELAKKLVESE LLEILTVVGK
   901  QEPDEKKAEV VQTARECLIK CMDYGFIKPV S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UNC45B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 184 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 184 nTPM
tongue: 142 nTPM
heart muscle: 94 nTPM
blood vessel: 5.3 nTPM
salivary gland: 2.4 nTPM
esophagus: 2 nTPM

Single-cell type

late spermatids: 86 nCPM
myonuclei: 82 nCPM
cardiomyocytes: 48 nCPM
early spermatids: 38 nCPM
thymic myoid cells: 34 nCPM
megakaryocytes: 12 nCPM

Immune cell

gdT-cell: 1.1 nTPM
MAIT T-cell: 0.9 nTPM
memory CD8 T-cell: 0.5 nTPM
naive CD8 T-cell: 0.5 nTPM
memory CD4 T-cell: 0.2 nTPM
naive CD4 T-cell: 0.1 nTPM

Brain region

hippocampal formation: 0.5 nTPM
cerebellum: 0.4 nTPM
cerebral cortex: 0.4 nTPM
midbrain: 0.4 nTPM
amygdala: 0.3 nTPM
basal ganglia: 0.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UNC45B.

Disease | AllUniProt

Conditions UNC45B is implicated in, by any mechanism.

Cataract 43 (CTRCT43) MIM:616279
Myopathy, myofibrillar, 11 (MFM11) MIM:619178

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 396 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Myofibrillar myopathy 11
Cataract 43
Myopathy
UNC45B-related disorder
Dilated cardiomyopathy 1A

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.91
gnomAD pLI: 0
gnomAD missense Z: -0.4
DepMap mean gene effect: -0.16
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Hsp90 protein binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of UNC45B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads UNC45B as an antibody target. Whether an autoantibody or antibody against UNC45B could matter depends on whether native UNC45B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

UNC45B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label UNC45B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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