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Database: UniProt
Entry: Q8IWX7
LinkDB: Q8IWX7
Original site: Q8IWX7 
ID   UN45B_HUMAN             Reviewed;         931 AA.
AC   Q8IWX7; Q495Q8; Q495Q9;
DT   19-SEP-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2003, sequence version 1.
DT   11-DEC-2019, entry version 146.
DE   RecName: Full=Protein unc-45 homolog B;
DE            Short=Unc-45B;
DE   AltName: Full=SMUNC45;
GN   Name=UNC45B; Synonyms=CMYA4, UNC45;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC   TISSUE=Heart;
RX   PubMed=12356907; DOI=10.1242/jcs.00108;
RA   Price M.G., Landsverk M.L., Barral J.M., Epstein H.F.;
RT   "Two mammalian UNC-45 isoforms are related to distinct cytoskeletal and
RT   muscle-specific functions.";
RL   J. Cell Sci. 115:4013-4023(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT
RP   ILE-60.
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [3]
RP   TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INVOLVEMENT IN CTRCT43, AND
RP   VARIANT CTRCT43 TRP-805.
RX   PubMed=24549050; DOI=10.1038/ejhg.2014.21;
RA   Hansen L., Comyn S., Mang Y., Lind-Thomsen A., Myhre L., Jean F.,
RA   Eiberg H., Tommerup N., Rosenberg T., Pilgrim D.;
RT   "The myosin chaperone UNC45B is involved in lens development and autosomal
RT   dominant juvenile cataract.";
RL   Eur. J. Hum. Genet. 22:1290-1297(2014).
RN   [4]
RP   INTERACTION WITH UBE4B.
RX   PubMed=17369820; DOI=10.1038/ncb1554;
RA   Janiesch P.C., Kim J., Mouysset J., Barikbin R., Lochmueller H.,
RA   Cassata G., Krause S., Hoppe T.;
RT   "The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to
RT   human myopathy.";
RL   Nat. Cell Biol. 9:379-390(2007).
RN   [5]
RP   VARIANT [LARGE SCALE ANALYSIS] HIS-496.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
CC   -!- FUNCTION: Acts as a co-chaperone for HSP90 and is required for proper
CC       folding of the myosin motor domain. Plays a role in sarcomere formation
CC       during muscle cell development. Is necessary for normal early lens
CC       development. {ECO:0000250|UniProtKB:Q6DGE9,
CC       ECO:0000250|UniProtKB:Q8CGY6}.
CC   -!- SUBUNIT: Interacts with HSP90 in an ATP-independent manner (By
CC       similarity). Interacts with UBE4B; the interaction may target UNC45B
CC       for proteasomal degradation (PubMed:17369820).
CC       {ECO:0000250|UniProtKB:Q8CGY6, ECO:0000269|PubMed:17369820}.
CC   -!- INTERACTION:
CC       P08238:HSP90AB1; NbExp=2; IntAct=EBI-9363363, EBI-352572;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q8IWX7-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8IWX7-2; Sequence=VSP_020586;
CC       Name=3;
CC         IsoId=Q8IWX7-3; Sequence=VSP_020587;
CC   -!- TISSUE SPECIFICITY: Expressed in eye lens tissues.
CC       {ECO:0000269|PubMed:24549050}.
CC   -!- DEVELOPMENTAL STAGE: Expressed from 43-day and 54-day embryonic eye
CC       development. {ECO:0000269|PubMed:24549050}.
CC   -!- DISEASE: Cataract 43 (CTRCT43) [MIM:616279]: An opacification of the
CC       crystalline lens of the eye that frequently results in visual
CC       impairment or blindness. Opacities vary in morphology, are often
CC       confined to a portion of the lens, and may be static or progressive. In
CC       general, the more posteriorly located and dense an opacity, the greater
CC       the impact on visual function. {ECO:0000269|PubMed:24549050}. Note=The
CC       disease is caused by mutations affecting the gene represented in this
CC       entry.
DR   EMBL; AF539794; AAO13384.1; -; mRNA.
DR   EMBL; BC101062; AAI01063.1; -; mRNA.
DR   EMBL; BC101063; AAI01064.1; -; mRNA.
DR   CCDS; CCDS11292.1; -. [Q8IWX7-1]
DR   CCDS; CCDS45648.1; -. [Q8IWX7-3]
DR   CCDS; CCDS76993.1; -. [Q8IWX7-2]
DR   RefSeq; NP_001028748.1; NM_001033576.1. [Q8IWX7-3]
DR   RefSeq; NP_001253981.1; NM_001267052.1. [Q8IWX7-3]
DR   RefSeq; NP_001295210.1; NM_001308281.1. [Q8IWX7-2]
DR   RefSeq; NP_775259.1; NM_173167.3. [Q8IWX7-1]
DR   RefSeq; XP_016879723.1; XM_017024234.1. [Q8IWX7-2]
DR   SMR; Q8IWX7; -.
DR   BioGrid; 127021; 15.
DR   IntAct; Q8IWX7; 10.
DR   STRING; 9606.ENSP00000268876; -.
DR   iPTMnet; Q8IWX7; -.
DR   PhosphoSitePlus; Q8IWX7; -.
DR   BioMuta; UNC45B; -.
DR   DMDM; 74762485; -.
DR   EPD; Q8IWX7; -.
DR   MassIVE; Q8IWX7; -.
DR   PaxDb; Q8IWX7; -.
DR   PeptideAtlas; Q8IWX7; -.
DR   PRIDE; Q8IWX7; -.
DR   ProteomicsDB; 70922; -. [Q8IWX7-1]
DR   ProteomicsDB; 70923; -. [Q8IWX7-2]
DR   ProteomicsDB; 70924; -. [Q8IWX7-3]
DR   Ensembl; ENST00000268876; ENSP00000268876; ENSG00000141161. [Q8IWX7-1]
DR   Ensembl; ENST00000394570; ENSP00000378071; ENSG00000141161. [Q8IWX7-3]
DR   Ensembl; ENST00000591048; ENSP00000468335; ENSG00000141161. [Q8IWX7-2]
DR   GeneID; 146862; -.
DR   KEGG; hsa:146862; -.
DR   UCSC; uc002hja.3; human. [Q8IWX7-1]
DR   CTD; 146862; -.
DR   DisGeNET; 146862; -.
DR   EuPathDB; HostDB:ENSG00000141161.11; -.
DR   GeneCards; UNC45B; -.
DR   HGNC; HGNC:14304; UNC45B.
DR   HPA; HPA017861; -.
DR   MalaCards; UNC45B; -.
DR   MIM; 611220; gene.
DR   MIM; 616279; phenotype.
DR   neXtProt; NX_Q8IWX7; -.
DR   OpenTargets; ENSG00000141161; -.
DR   Orphanet; 98991; Early-onset nuclear cataract.
DR   Orphanet; 441447; Early-onset posterior subcapsular cataract.
DR   PharmGKB; PA26655; -.
DR   eggNOG; KOG4151; Eukaryota.
DR   eggNOG; ENOG410XQNT; LUCA.
DR   GeneTree; ENSGT00940000157654; -.
DR   HOGENOM; HOG000285994; -.
DR   InParanoid; Q8IWX7; -.
DR   KO; K21991; -.
DR   OMA; SGMCTGH; -.
DR   OrthoDB; 1059433at2759; -.
DR   PhylomeDB; Q8IWX7; -.
DR   TreeFam; TF314096; -.
DR   ChiTaRS; UNC45B; human.
DR   GenomeRNAi; 146862; -.
DR   Pharos; Q8IWX7; Tbio.
DR   PRO; PR:Q8IWX7; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   RNAct; Q8IWX7; protein.
DR   Bgee; ENSG00000141161; Expressed in 75 organ(s), highest expression level in left ventricle myocardium.
DR   Genevisible; Q8IWX7; HS.
DR   GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
DR   GO; GO:0051879; F:Hsp90 protein binding; IBA:GO_Central.
DR   GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR   GO; GO:0061077; P:chaperone-mediated protein folding; IBA:GO_Central.
DR   GO; GO:0002088; P:lens development in camera-type eye; ISS:UniProtKB.
DR   GO; GO:0007517; P:muscle organ development; IEA:UniProtKB-KW.
DR   Gene3D; 1.25.10.10; -; 2.
DR   Gene3D; 1.25.40.10; -; 1.
DR   InterPro; IPR011989; ARM-like.
DR   InterPro; IPR016024; ARM-type_fold.
DR   InterPro; IPR000225; Armadillo.
DR   InterPro; IPR013026; TPR-contain_dom.
DR   InterPro; IPR011990; TPR-like_helical_dom_sf.
DR   InterPro; IPR019734; TPR_repeat.
DR   InterPro; IPR024660; UCS_central_dom.
DR   Pfam; PF11701; UNC45-central; 1.
DR   SMART; SM00185; ARM; 4.
DR   SMART; SM00028; TPR; 3.
DR   SUPFAM; SSF48371; SSF48371; 2.
DR   SUPFAM; SSF48452; SSF48452; 1.
DR   PROSITE; PS50005; TPR; 3.
DR   PROSITE; PS50293; TPR_REGION; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cataract; Chaperone; Cytoplasm;
KW   Developmental protein; Differentiation; Disease mutation; Myogenesis;
KW   Polymorphism; Reference proteome; Repeat; TPR repeat.
FT   CHAIN           1..931
FT                   /note="Protein unc-45 homolog B"
FT                   /id="PRO_0000249892"
FT   REPEAT          6..39
FT                   /note="TPR 1"
FT   REPEAT          43..76
FT                   /note="TPR 2"
FT   REPEAT          77..110
FT                   /note="TPR 3"
FT   REPEAT          169..208
FT                   /note="ARM 1"
FT   REPEAT          211..250
FT                   /note="ARM 2"
FT   REPEAT          751..790
FT                   /note="ARM 3"
FT   VAR_SEQ         485..565
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_020586"
FT   VAR_SEQ         564..565
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_020587"
FT   VARIANT         60
FT                   /note="V -> I (in dbSNP:rs16970659)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_027506"
FT   VARIANT         199
FT                   /note="A -> V (in dbSNP:rs35749208)"
FT                   /id="VAR_052630"
FT   VARIANT         377
FT                   /note="K -> R (in dbSNP:rs41389545)"
FT                   /id="VAR_052631"
FT   VARIANT         496
FT                   /note="D -> H (in a breast cancer sample; somatic
FT                   mutation)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_035870"
FT   VARIANT         805
FT                   /note="R -> W (in CTRCT43; dbSNP:rs370424081)"
FT                   /evidence="ECO:0000269|PubMed:24549050"
FT                   /id="VAR_073375"
FT   VARIANT         852
FT                   /note="I -> N (in dbSNP:rs11654824)"
FT                   /id="VAR_027507"
SQ   SEQUENCE   931 AA;  103733 MW;  A4F457349AAEAB76 CRC64;
     MAEVEAVQLK EEGNRHFQLQ DYKAATNSYS QALKLTKDKA LLATLYRNRA ACGLKTESYV
     QAASDASRAI DINSSDIKAL YRRCQALEHL GKLDQAFKDV QRCATLEPRN QNFQEMLRRL
     NTSIQEKLRV QFSTDSRVQK MFEILLDENS EADKREKAAN NLIVLGREEA GAEKIFQNNG
     VALLLQLLDT KKPELVLAAV RTLSGMCSGH QARATVILHA VRIDRICSLM AVENEEMSLA
     VCNLLQAIID SLSGEDKREH RGKEEALVLD TKKDLKQITS HLLDMLVSKK VSGQGRDQAL
     NLLNKNVPRK DLAIHDNSRT IYVVDNGLRK ILKVVGQVPD LPSCLPLTDN TRMLASILIN
     KLYDDLRCDP ERDHFRKICE EYITGKFDPQ DMDKNLNAIQ TVSGILQGPF DLGNQLLGLK
     GVMEMMVALC GSERETDQLV AVEALIHAST KLSRATFIIT NGVSLLKQIY KTTKNEKIKI
     RTLVGLCKLG SAGGTDYGLR QFAEGSTEKL AKQCRKWLCN MSIDTRTRRW AVEGLAYLTL
     DADVKDDFVQ DVPALQAMFE LAKAGTSDKT ILYSVATTLV NCTNSYDVKE VIPELVQLAK
     FSKQHVPEEH PKDKKDFIDM RVKRLLKAGV ISALACMVKA DSAILTDQTK ELLARVFLAL
     CDNPKDRGTI VAQGGGKALI PLALEGTDVG KVKAAHALAK IAAVSNPDIA FPGERVYEVV
     RPLVRLLDTQ RDGLQNYEAL LGLTNLSGRS DKLRQKIFKE RALPDIENYM FENHDQLRQA
     ATECMCNMVL HKEVQERFLA DGNDRLKLVV LLCGEDDDKV QNAAAGALAM LTAAHKKLCL
     KMTQVTTQWL EILQRLCLHD QLSVQHRGLV IAYNLLAADA ELAKKLVESE LLEILTVVGK
     QEPDEKKAEV VQTARECLIK CMDYGFIKPV S
//
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