Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55898
Gene name	Unc-45 myosin chaperone A
Gene symbol	UNC45A
Synonyms (NCBI Gene)	GC-UNC45GCUNC-45GCUNC45IRO039700OOHESMAP-1SMAP1UNC-45A
Chromosome	15
Chromosome location	15q26.1
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 proli

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023949	hsa-miR-1-3p	Proteomics	18668040
MIRT048871	hsa-miR-93-5p	CLASH	23622248
MIRT046354	hsa-miR-23b-3p	CLASH	23622248
MIRT045768	hsa-miR-125a-5p	CLASH	23622248
MIRT044266	hsa-miR-106b-5p	CLASH	23622248
MIRT044266	hsa-miR-106b-5p	CLASH	23622248
MIRT038832	hsa-miR-93-3p	CLASH	23622248
MIRT036617	hsa-miR-940	CLASH	23622248
MIRT1475360	hsa-miR-2392	CLIP-seq
MIRT1475361	hsa-miR-31	CLIP-seq
MIRT1475362	hsa-miR-345	CLIP-seq
MIRT1475363	hsa-miR-3605-5p	CLIP-seq
MIRT1475364	hsa-miR-3945	CLIP-seq
MIRT1475365	hsa-miR-4253	CLIP-seq
MIRT1475366	hsa-miR-4436b-3p	CLIP-seq
MIRT1475367	hsa-miR-4761-3p	CLIP-seq
MIRT1475368	hsa-miR-4773	CLIP-seq
MIRT1475369	hsa-miR-496	CLIP-seq
MIRT2143244	hsa-miR-3147	CLIP-seq
MIRT2143245	hsa-miR-4425	CLIP-seq
MIRT2143246	hsa-miR-450b-3p	CLIP-seq
MIRT2143247	hsa-miR-769-3p	CLIP-seq
MIRT2363535	hsa-miR-1202	CLIP-seq
MIRT2363536	hsa-miR-3194-5p	CLIP-seq
MIRT1475364	hsa-miR-3945	CLIP-seq
MIRT2363537	hsa-miR-3972	CLIP-seq
MIRT1475365	hsa-miR-4253	CLIP-seq
MIRT2363538	hsa-miR-4691-3p	CLIP-seq
MIRT1475369	hsa-miR-496	CLIP-seq
MIRT1475366	hsa-miR-4436b-3p	CLIP-seq
MIRT1475367	hsa-miR-4761-3p	CLIP-seq
MIRT1475368	hsa-miR-4773	CLIP-seq
MIRT2363535	hsa-miR-1202	CLIP-seq
MIRT2694764	hsa-miR-1226	CLIP-seq
MIRT1475360	hsa-miR-2392	CLIP-seq
MIRT1475361	hsa-miR-31	CLIP-seq
MIRT2363536	hsa-miR-3194-5p	CLIP-seq
MIRT1475363	hsa-miR-3605-5p	CLIP-seq
MIRT1475364	hsa-miR-3945	CLIP-seq
MIRT2363537	hsa-miR-3972	CLIP-seq
MIRT1475365	hsa-miR-4253	CLIP-seq
MIRT1475366	hsa-miR-4436b-3p	CLIP-seq
MIRT2363538	hsa-miR-4691-3p	CLIP-seq
MIRT1475367	hsa-miR-4761-3p	CLIP-seq
MIRT1475368	hsa-miR-4773	CLIP-seq
MIRT1475369	hsa-miR-496	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25036637, 25416956, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006457	Process	Protein folding	IBA
GO:0007517	Process	Muscle organ development	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051879	Function	Hsp90 protein binding	IBA
GO:0051879	Function	Hsp90 protein binding	IEA

MIM	HGNC	e!Ensembl
611219	30594	ENSG00000140553

Q9H3U1

Protein name

Protein unc-45 homolog A (Unc-45A) (GCUNC-45) (Smooth muscle cell-associated protein 1) (SMAP-1)

Protein function

Acts as a co-chaperone for HSP90. Prevents the stimulation of HSP90AB1 ATPase activity by AHSA1. Positive factor in promoting PGR function in the cell. May be necessary for proper folding of myosin (Potential). Necessary for normal cell prolifer

PDB

2DBA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13432	TPR_16	25 → 91		Family
PF13181	TPR_8	92 → 125	Tetratricopeptide repeat	Repeat
PF11701	UNC45-central	314 → 505	Myosin-binding striated muscle assembly central	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in peripheral blood leukocytes, bone marrow, adrenal gland, trachea, spinal cord, thyroid, lymph node and stomach. {ECO:0000269|PubMed:12119110}.

Sequence

MTVSGPGTPEPRPATPGASSVEQLRKEGNELFKCGDYGGALAAYTQALGLDATPQDQAVL
HRNRAACHLKLEDYDKAETEASKAIEKDGGDVKALYRRSQALEKLGRLDQAVLDLQRCVS
LEPKNKVFQEALRNIGGQIQEKVRYMSSTDAKVEQMFQILLDPEEKGTEKKQKASQNLVV
LAREDAGAEKIFRSNGVQLLQRLLDMGETDLMLAALRTLVGICSEHQSRTVATLSILGTR
RVVSILGVESQAVSLAACHLLQVMFDALKEGVKKGFRGKEGAIIVDPARELKVLISNLLD
LLTEVGVSGQGRDNALTLLIKAVPRKSLKDPNNSLTLWVIDQGLKKILEVGGSLQDPPGE
LAVTANSRMSASILLSKLFDDLKCDAERENFHRLCENYIKSWFEGQGLAGKLRAIQTVSC
LLQGPCDAGNRALELSGVMESVIALCASEQEEEQLVAVEALIHAAGKAKRASFITANGVS
LLKDLYKCSEKDSIRIRALVGLCKLGSAGGTDFSMKQFAEGSTLKLAKQCRKWLCNDQID
AGTRRWAVEGLAYLTFDADVKEEFVEDAAALKALFQLSRLEERSVLFAVASALVNCTNSY
DYEEPDPKMVELAKYAKQHVPEQHPKDKPSFVRARVKKLLAAGVVSAMVCMVKTESPVLT
SSCRELLSRVFLALVEEVEDRGTVVAQGGGRALIPLALEGTDVGQTKAAQALAKLTITSN
PEMTFPGERIYEVVRPLVSLLHLNCSGLQNFEALMALTNLAGISERLRQKILKEKAVPMI
EGYMFEEHEMIRRAATECMCNLAMSKEVQDLFEAQGNDRLKLLVLYSGEDDELLQRAAAG
GLAMLTSMRPTLCSRIPQVTTHWLEILQALLLSSNQELQHRGAVVVLNMVEASREIASTL
MESEMMEILSVLAKGDHSPVTRAAAACLDKAVEYGLIQPNQDGE

Sequence length

944

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Osteootohepatoenteric syndrome	Pathogenic; Likely pathogenic	rs376112577, rs898865024, rs2036482593, rs1596206474, rs2036339787, rs1383985512, rs2543155958, rs2543186334, rs2543115957	RCV001509565 RCV001509567 RCV001509569 RCV003148074 RCV003892102 RCV003892104 RCV003892105 RCV003892106 RCV003985978	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis-edema syndrome, Norwegian type	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Increased susceptibility to fractures	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNC45A-associated Cholestasis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNC45A-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Aagenaes syndrome	Associate	37328071	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Associate	29476661	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune enteropathy	Associate	35421597	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	30737284	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	25444911, 30737284	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Associate	36868038, 37328071	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Associate	35421597	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Inhibit	35344227	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Associate	35421597, 36868038	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enteritis	Associate	35421597	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Associate	36868038	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	29476661	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Associate	35421597, 36868038	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	38286121	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	30737284	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	25444911, 30737284, 31328624	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis pseudoglioma syndrome	Associate	36868038	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	31328624	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Associate	38286121	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rare Diseases	Associate	35421597	★★★★★ ★☆☆☆☆ Found in Text Mining only
Shared Paranoid Disorder	Associate	35421597	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndrome	Associate	35421597	★★★★★ ★☆☆☆☆ Found in Text Mining only

UNC45A (unc-45 myosin chaperone A)