UNC45A
Protein unc-45 homolog A
Also known as: GC-UNC45, SMAP-1, UN45A_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H3U1
- Gene
- UNC45A
- Ensembl
- ENSG00000140553
- Chromosome
- 15
- Canonical length
- 944 aa
- Protein class
- Disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nuclear speckles,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
944 residues, UniProt reviewed canonical sequence.
>Q9H3U1|UNC45A
1 MTVSGPGTPE PRPATPGASS VEQLRKEGNE LFKCGDYGGA LAAYTQALGL DATPQDQAVL
61 HRNRAACHLK LEDYDKAETE ASKAIEKDGG DVKALYRRSQ ALEKLGRLDQ AVLDLQRCVS
121 LEPKNKVFQE ALRNIGGQIQ EKVRYMSSTD AKVEQMFQIL LDPEEKGTEK KQKASQNLVV
181 LAREDAGAEK IFRSNGVQLL QRLLDMGETD LMLAALRTLV GICSEHQSRT VATLSILGTR
241 RVVSILGVES QAVSLAACHL LQVMFDALKE GVKKGFRGKE GAIIVDPARE LKVLISNLLD
301 LLTEVGVSGQ GRDNALTLLI KAVPRKSLKD PNNSLTLWVI DQGLKKILEV GGSLQDPPGE
361 LAVTANSRMS ASILLSKLFD DLKCDAEREN FHRLCENYIK SWFEGQGLAG KLRAIQTVSC
421 LLQGPCDAGN RALELSGVME SVIALCASEQ EEEQLVAVEA LIHAAGKAKR ASFITANGVS
481 LLKDLYKCSE KDSIRIRALV GLCKLGSAGG TDFSMKQFAE GSTLKLAKQC RKWLCNDQID
541 AGTRRWAVEG LAYLTFDADV KEEFVEDAAA LKALFQLSRL EERSVLFAVA SALVNCTNSY
601 DYEEPDPKMV ELAKYAKQHV PEQHPKDKPS FVRARVKKLL AAGVVSAMVC MVKTESPVLT
661 SSCRELLSRV FLALVEEVED RGTVVAQGGG RALIPLALEG TDVGQTKAAQ ALAKLTITSN
721 PEMTFPGERI YEVVRPLVSL LHLNCSGLQN FEALMALTNL AGISERLRQK ILKEKAVPMI
781 EGYMFEEHEM IRRAATECMC NLAMSKEVQD LFEAQGNDRL KLLVLYSGED DELLQRAAAG
841 GLAMLTSMRP TLCSRIPQVT THWLEILQAL LLSSNQELQH RGAVVVLNMV EASREIASTL
901 MESEMMEILS VLAKGDHSPV TRAAAACLDK AVEYGLIQPN QDGELocalizationUniProt · AlphaFold · HPA
Whether an antibody against UNC45A 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)
- 0.26
- Highest tissue expression
- 50 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 50 nTPM
- urinary bladder: 41 nTPM
- colon: 38 nTPM
- skin: 36 nTPM
- endometrium: 35 nTPM
- seminal vesicle: 32 nTPM
Single-cell type
- retinal ganglion cells: 124 nCPM
- megakaryocytes: 87 nCPM
- cardiomyocytes: 81 nCPM
- platelets: 75 nCPM
- cytotrophoblasts: 66 nCPM
- esophageal suprabasal cells: 61 nCPM
Immune cell
- gdT-cell: 12 nTPM
- non-classical monocyte: 12 nTPM
- basophil: 12 nTPM
- MAIT T-cell: 11 nTPM
- myeloid DC: 10 nTPM
- NK-cell: 9.8 nTPM
Brain region
- midbrain: 20 nTPM
- choroid plexus: 17 nTPM
- thalamus: 16 nTPM
- pons: 15 nTPM
- medulla oblongata: 14 nTPM
- cerebellum: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about UNC45A.
Disease | AllUniProt
Conditions UNC45A is implicated in, by any mechanism.
- Osteootohepatoenteric syndrome (OOHE) MIM:619377
Disease | GeneticClinVar
13 pathogenic / likely-pathogenic of 749 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Osteootohepatoenteric syndrome
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)
- 0.74
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.19
- DepMap mean gene effect
- -0.27
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of UNC45A 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 UNC45A as an antibody target. Whether an autoantibody or antibody against UNC45A could matter depends on whether native UNC45A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UNC45A 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 UNC45A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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