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Protein

Protein unc-45 homolog B

Gene

UNC45B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chaperone, Developmental protein

Keywords - Biological processi

Differentiation, Myogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Protein unc-45 homolog B
Short name:
Unc-45B
Alternative name(s):
SMUNC45
Gene namesi
Name:UNC45B
Synonyms:CMYA4, UNC45
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:14304. UNC45B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Cataract 43 (CTRCT43)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
See also OMIM:616279
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti805 – 8051R → W in CTRCT43. 1 Publication
Corresponds to variant rs370424081 [ dbSNP | Ensembl ].
VAR_073375

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MalaCardsiUNC45B.
MIMi616279. phenotype.
Orphaneti98991. Nuclear cataract.
PharmGKBiPA26655.

Polymorphism and mutation databases

BioMutaiUNC45B.
DMDMi74762485.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 931931Protein unc-45 homolog BPRO_0000249892Add
BLAST

Proteomic databases

EPDiQ8IWX7.
PaxDbiQ8IWX7.
PeptideAtlasiQ8IWX7.
PRIDEiQ8IWX7.

PTM databases

iPTMnetiQ8IWX7.
PhosphoSiteiQ8IWX7.

Expressioni

Tissue specificityi

Expressed in eye lens tissues.1 Publication

Developmental stagei

Expressed from 43-day and 54-day embryonic eye development.1 Publication

Gene expression databases

BgeeiQ8IWX7.
CleanExiHS_UNC45B.
GenevisibleiQ8IWX7. HS.

Organism-specific databases

HPAiHPA017861.

Interactioni

Subunit structurei

Interacts with HSP90 in an ATP-independent manner.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
HSP90AB1P082382EBI-9363363,EBI-352572

Protein-protein interaction databases

BioGridi127021. 4 interactions.
IntActiQ8IWX7. 10 interactions.
STRINGi9606.ENSP00000268876.

Structurei

3D structure databases

ProteinModelPortaliQ8IWX7.
SMRiQ8IWX7. Positions 6-900.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati6 – 3934TPR 1Add
BLAST
Repeati43 – 7634TPR 2Add
BLAST
Repeati77 – 11034TPR 3Add
BLAST
Repeati169 – 20840ARM 1Add
BLAST
Repeati211 – 25040ARM 2Add
BLAST
Repeati751 – 79040ARM 3Add
BLAST

Sequence similaritiesi

Contains 3 ARM repeats.Curated
Contains 3 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG4151. Eukaryota.
ENOG410XQNT. LUCA.
GeneTreeiENSGT00840000129775.
HOGENOMiHOG000285994.
HOVERGENiHBG057344.
InParanoidiQ8IWX7.
OMAiKMTQVTT.
OrthoDBiEOG7VDXNH.
PhylomeDBiQ8IWX7.
TreeFamiTF314096.

Family and domain databases

Gene3Di1.25.10.10. 3 hits.
1.25.40.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
IPR024660. UCS_central_dom.
[Graphical view]
PfamiPF11701. UNC45-central. 1 hit.
[Graphical view]
SMARTiSM00185. ARM. 4 hits.
SM00028. TPR. 3 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 3 hits.
SSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 3 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IWX7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAEVEAVQLK EEGNRHFQLQ DYKAATNSYS QALKLTKDKA LLATLYRNRA
60 70 80 90 100
ACGLKTESYV QAASDASRAI DINSSDIKAL YRRCQALEHL GKLDQAFKDV
110 120 130 140 150
QRCATLEPRN QNFQEMLRRL NTSIQEKLRV QFSTDSRVQK MFEILLDENS
160 170 180 190 200
EADKREKAAN NLIVLGREEA GAEKIFQNNG VALLLQLLDT KKPELVLAAV
210 220 230 240 250
RTLSGMCSGH QARATVILHA VRIDRICSLM AVENEEMSLA VCNLLQAIID
260 270 280 290 300
SLSGEDKREH RGKEEALVLD TKKDLKQITS HLLDMLVSKK VSGQGRDQAL
310 320 330 340 350
NLLNKNVPRK DLAIHDNSRT IYVVDNGLRK ILKVVGQVPD LPSCLPLTDN
360 370 380 390 400
TRMLASILIN KLYDDLRCDP ERDHFRKICE EYITGKFDPQ DMDKNLNAIQ
410 420 430 440 450
TVSGILQGPF DLGNQLLGLK GVMEMMVALC GSERETDQLV AVEALIHAST
460 470 480 490 500
KLSRATFIIT NGVSLLKQIY KTTKNEKIKI RTLVGLCKLG SAGGTDYGLR
510 520 530 540 550
QFAEGSTEKL AKQCRKWLCN MSIDTRTRRW AVEGLAYLTL DADVKDDFVQ
560 570 580 590 600
DVPALQAMFE LAKAGTSDKT ILYSVATTLV NCTNSYDVKE VIPELVQLAK
610 620 630 640 650
FSKQHVPEEH PKDKKDFIDM RVKRLLKAGV ISALACMVKA DSAILTDQTK
660 670 680 690 700
ELLARVFLAL CDNPKDRGTI VAQGGGKALI PLALEGTDVG KVKAAHALAK
710 720 730 740 750
IAAVSNPDIA FPGERVYEVV RPLVRLLDTQ RDGLQNYEAL LGLTNLSGRS
760 770 780 790 800
DKLRQKIFKE RALPDIENYM FENHDQLRQA ATECMCNMVL HKEVQERFLA
810 820 830 840 850
DGNDRLKLVV LLCGEDDDKV QNAAAGALAM LTAAHKKLCL KMTQVTTQWL
860 870 880 890 900
EILQRLCLHD QLSVQHRGLV IAYNLLAADA ELAKKLVESE LLEILTVVGK
910 920 930
QEPDEKKAEV VQTARECLIK CMDYGFIKPV S
Length:931
Mass (Da):103,733
Last modified:March 1, 2003 - v1
Checksum:iA4F457349AAEAB76
GO
Isoform 2 (identifier: Q8IWX7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     485-565: Missing.

Show »
Length:850
Mass (Da):94,850
Checksum:i879D62CB12BB7E1C
GO
Isoform 3 (identifier: Q8IWX7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     564-565: Missing.

Note: No experimental confirmation available.
Show »
Length:929
Mass (Da):103,605
Checksum:i5FEF624AF6E24D38
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601V → I.1 Publication
Corresponds to variant rs16970659 [ dbSNP | Ensembl ].
VAR_027506
Natural varianti199 – 1991A → V.
Corresponds to variant rs35749208 [ dbSNP | Ensembl ].
VAR_052630
Natural varianti377 – 3771K → R.
Corresponds to variant rs41389545 [ dbSNP | Ensembl ].
VAR_052631
Natural varianti496 – 4961D → H in a breast cancer sample; somatic mutation. 1 Publication
VAR_035870
Natural varianti805 – 8051R → W in CTRCT43. 1 Publication
Corresponds to variant rs370424081 [ dbSNP | Ensembl ].
VAR_073375
Natural varianti852 – 8521I → N.
Corresponds to variant rs11654824 [ dbSNP | Ensembl ].
VAR_027507

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei485 – 56581Missing in isoform 2. 1 PublicationVSP_020586Add
BLAST
Alternative sequencei564 – 5652Missing in isoform 3. 1 PublicationVSP_020587

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF539794 mRNA. Translation: AAO13384.1.
BC101062 mRNA. Translation: AAI01063.1.
BC101063 mRNA. Translation: AAI01064.1.
CCDSiCCDS11292.1. [Q8IWX7-1]
CCDS45648.1. [Q8IWX7-3]
CCDS76993.1. [Q8IWX7-2]
RefSeqiNP_001028748.1. NM_001033576.1. [Q8IWX7-3]
NP_001253981.1. NM_001267052.1. [Q8IWX7-3]
NP_001295210.1. NM_001308281.1. [Q8IWX7-2]
NP_775259.1. NM_173167.3. [Q8IWX7-1]
UniGeneiHs.379636.

Genome annotation databases

EnsembliENST00000268876; ENSP00000268876; ENSG00000141161. [Q8IWX7-1]
ENST00000394570; ENSP00000378071; ENSG00000141161. [Q8IWX7-3]
ENST00000591048; ENSP00000468335; ENSG00000141161. [Q8IWX7-2]
GeneIDi146862.
KEGGihsa:146862.
UCSCiuc002hja.3. human. [Q8IWX7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF539794 mRNA. Translation: AAO13384.1.
BC101062 mRNA. Translation: AAI01063.1.
BC101063 mRNA. Translation: AAI01064.1.
CCDSiCCDS11292.1. [Q8IWX7-1]
CCDS45648.1. [Q8IWX7-3]
CCDS76993.1. [Q8IWX7-2]
RefSeqiNP_001028748.1. NM_001033576.1. [Q8IWX7-3]
NP_001253981.1. NM_001267052.1. [Q8IWX7-3]
NP_001295210.1. NM_001308281.1. [Q8IWX7-2]
NP_775259.1. NM_173167.3. [Q8IWX7-1]
UniGeneiHs.379636.

3D structure databases

ProteinModelPortaliQ8IWX7.
SMRiQ8IWX7. Positions 6-900.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127021. 4 interactions.
IntActiQ8IWX7. 10 interactions.
STRINGi9606.ENSP00000268876.

PTM databases

iPTMnetiQ8IWX7.
PhosphoSiteiQ8IWX7.

Polymorphism and mutation databases

BioMutaiUNC45B.
DMDMi74762485.

Proteomic databases

EPDiQ8IWX7.
PaxDbiQ8IWX7.
PeptideAtlasiQ8IWX7.
PRIDEiQ8IWX7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268876; ENSP00000268876; ENSG00000141161. [Q8IWX7-1]
ENST00000394570; ENSP00000378071; ENSG00000141161. [Q8IWX7-3]
ENST00000591048; ENSP00000468335; ENSG00000141161. [Q8IWX7-2]
GeneIDi146862.
KEGGihsa:146862.
UCSCiuc002hja.3. human. [Q8IWX7-1]

Organism-specific databases

CTDi146862.
GeneCardsiUNC45B.
HGNCiHGNC:14304. UNC45B.
HPAiHPA017861.
MalaCardsiUNC45B.
MIMi611220. gene.
616279. phenotype.
neXtProtiNX_Q8IWX7.
Orphaneti98991. Nuclear cataract.
PharmGKBiPA26655.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4151. Eukaryota.
ENOG410XQNT. LUCA.
GeneTreeiENSGT00840000129775.
HOGENOMiHOG000285994.
HOVERGENiHBG057344.
InParanoidiQ8IWX7.
OMAiKMTQVTT.
OrthoDBiEOG7VDXNH.
PhylomeDBiQ8IWX7.
TreeFamiTF314096.

Miscellaneous databases

ChiTaRSiUNC45B. human.
GenomeRNAii146862.
PROiQ8IWX7.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IWX7.
CleanExiHS_UNC45B.
GenevisibleiQ8IWX7. HS.

Family and domain databases

Gene3Di1.25.10.10. 3 hits.
1.25.40.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
IPR024660. UCS_central_dom.
[Graphical view]
PfamiPF11701. UNC45-central. 1 hit.
[Graphical view]
SMARTiSM00185. ARM. 4 hits.
SM00028. TPR. 3 hits.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 3 hits.
SSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 3 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Two mammalian UNC-45 isoforms are related to distinct cytoskeletal and muscle-specific functions."
    Price M.G., Landsverk M.L., Barral J.M., Epstein H.F.
    J. Cell Sci. 115:4013-4023(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Heart.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT ILE-60.
  3. "The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract."
    Hansen L., Comyn S., Mang Y., Lind-Thomsen A., Myhre L., Jean F., Eiberg H., Tommerup N., Rosenberg T., Pilgrim D.
    Eur. J. Hum. Genet. 22:1290-1297(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INVOLVEMENT IN CTRCT43, VARIANT CTRCT43 TRP-805.
  4. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-496.

Entry informationi

Entry nameiUN45B_HUMAN
AccessioniPrimary (citable) accession number: Q8IWX7
Secondary accession number(s): Q495Q8, Q495Q9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: March 1, 2003
Last modified: July 6, 2016
This is version 120 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.