UNC45B - unc-45 myosin chaperone B Gene

Also Known as CMYA4; MFM11; UNC45; CTRCT43; SMUNC45; UNC-45B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 146862

About UNC45B

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:35,147,817-35,189,345 (from NCBI)

This gene has 3 transcripts (splice variants), 218 orthologues, 18 paralogues and is associated with 6 phenotypes. Restricted expression toward heart (RPKM 36.4).

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]

UNC45B Products (4)

mRNA	Protein	Name
NM_001033576.2	NP_001028748.1	protein unc-45 homolog B isoform 2
NM_001267052.2	NP_001253981.1	protein unc-45 homolog B isoform 2
NM_001308281.1	NP_001295210.1	protein unc-45 homolog B isoform 3
NM_173167.3	NP_775259.1	protein unc-45 homolog B isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25036637	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UNC45B Protein Structure

TPR_11

TPR_1

UNC45-central

0
200
400
600
800
931 a.a.

Protein Preferred Names	Protein Names
protein unc-45 homolog B	cardiomyopathy associated 4

UNC45B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UNC45B	Q8IWX7	HSP90AA1	Homo sapiens	P07900	Anti Tag CoIP	33961781
Intra	UNC45B	Q8IWX7	HSP90AB1	Homo sapiens	P08238	Anti Tag CoIP	33961781
Intra	UNC45B	Q8IWX7	HSP90AB1	Homo sapiens	P08238	Anti Tag CoIP	25036637

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cataract 43	CTRCT43 Cataract, Type 43
Myofibrillar Myopathy 11	MFM11 Myopathy, Congenital, With Eccentric Cores Myopathy, Myofibrillar, 11
Early-Onset Posterior Subcapsular Cataract
Myopathy	Muscular Diseases Myopathies
Early-Onset Nuclear Cataract
Cardiomyopathy, Dilated, 1a	Dilated Cardiomyopathy 1a Cdcd1 CMD1A Cardiomyopathy, Familial Idiopathic Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation Cardiomyopathy, Dilated, With Conduction Defect 1 Cardiomyopathy, Idiopathic Dilated Cardiomyopathy, Congestive Dilated Cardiomyopathy With Conduction Defect 1 Cardiomyopathy Dilated With Conduction Defect Type 1 Cardiomyopathy, Dilated 1a Cardiomyopathy Dilated With Conduction Defect 1 Cardiomyopathy, Dilated, Type 1a
Cardiomyopathy, Dilated, 1h	Dilated Cardiomyopathy 1h Dilated Cardiomyopathy With Conduction Defect CMD1H Cardiomyopathy, Dilated, With Conduction Defect
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Inflammatory Bowel Disease 27	IBD27
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency Muscular Dystrophy, Congenital, Due To Itga7 Deficiency Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency Congenital Muscular Dystrophy With Itga7 Deficiency Congenital Myopathy Due To Integrin Alpha-7 Deficiency Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency MDCI Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Ibmpfd Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Pagetoid Amyotrophic Lateral Sclerosis Pagetoid Neuroskeletal Syndrome Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia Multisystem Proteinopathy Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement Lower Motor Neuron Degeneration With Paget-Like Bone Disease Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia
Deafness, Autosomal Recessive 102	DFNB102 Autosomal Recessive Nonsyndromic Deafness 102 Autosomal Recessive Deafness 102 Deafness, Autosomal Recessive, 102 Deafness, Autosomal Recessive, Type 102
Nonaka Myopathy	Gne Myopathy Hibm Distal Myopathy With Rimmed Vacuoles Hereditary Inclusion Body Myopathy Ibm2 Inclusion Body Myopathy, Quadriceps-Sparing Qsm Dmrv Distal Myopathy, Nonaka Type Inclusion Body Myopathy 2 Inclusion Body Myopathy, Autosomal Recessive NM Nonaka Distal Myopathy Myopathy, Distal, With Or Without Rimmed Vacuoles Inclusion Body Myopathy, Hereditary, Autosomal Recessive Inclusion Body Myopathy Type 2 Quadriceps-Sparing Myopathy Quadriceps Sparing Myopathy Rimmed Vacuole Myopathy Inclusion Body Myopathy 2, Autosomal Recessive, Formerly Ibm2, Formerly Hibm2 Hereditary Inclusion Body Myopathy Type 2 Inclusion Body Myopathy 2, Autosomal Recessive Myopathy, Distal, With Rimmed Vacuoles Inclusion Body Myopathy Autosomal Recessive Myopathy, Inclusion Body, Type 2 Myopathy, Nonaka

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15469	UNC45B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	UNC45B	VGNC	VGNC:78954
Felis catus	UNC45B	VGNC	VGNC:66826
Bos taurus	UNC45B	VGNC	VGNC:36668
Rattus norvegicus	UNC45B	RGD	RGD:1305666
Canis familiaris	UNC45B	VGNC	VGNC:48138
Mus musculus	UNC45B	MGD	MGI:2443377
Others	UNC45B	NCBI