LOCUS       NM_018671               3252 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens unc-45 myosin chaperone A (UNC45A), transcript variant
            2, mRNA.
ACCESSION   NM_018671
VERSION     NM_018671.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3252)
  AUTHORS   Almaas,R., Atneosen-Asegg,M., Ytre-Arne,M.E., Melheim,M.,
            Sorte,H.S., Cizkova,D., Reims,H.M., Bezrouk,A., Harrison,S.P.,
            Strand,J., Hermansen,J.U., Andersen,S.S., Eiklid,K.L., Mokry,J.,
            Sullivan,G.J. and Stray-Pedersen,A.
  TITLE     Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a
            founder variant in the 5'-untranslated region of UNC45A
  JOURNAL   J Hepatol 79 (4), 945-954 (2023)
   PUBMED   37328071
  REMARK    GeneRIF: Aagenaes syndrome/lymphedema cholestasis syndrome 1 is
            caused by a founder variant in the 5'-untranslated region of
            UNC45A.
REFERENCE   2  (bases 1 to 3252)
  AUTHORS   Duclaux-Loras,R., Lebreton,C., Berthelet,J., Charbit-Henrion,F.,
            Nicolle,O., Revenu des Courtils,C., Waich,S., Valovka,T., Khiat,A.,
            Rabant,M., Racine,C., Guerrera,I.C., Baptista,J., Mahe,M.M.,
            Hess,M.W., Durel,B., Lefort,N., Banal,C., Parisot,M., Talbotec,C.,
            Lacaille,F., Ecochard-Dugelay,E., Demir,A.M., Vogel,G.F.,
            Faivre,L., Rodrigues,A., Fowler,D., Janecke,A.R., Muller,T.,
            Huber,L.A., Rodrigues-Lima,F., Ruemmele,F.M., Uhlig,H.H., Del
            Bene,F., Michaux,G., Cerf-Bensussan,N. and Parlato,M.
  TITLE     UNC45A deficiency causes microvillus inclusion disease-like
            phenotype by impairing myosin VB-dependent apical trafficking
  JOURNAL   J Clin Invest 132 (10) (2022)
   PUBMED   35575086
  REMARK    GeneRIF: UNC45A deficiency causes microvillus inclusion
            disease-like phenotype by impairing myosin VB-dependent apical
            trafficking.
REFERENCE   3  (bases 1 to 3252)
  AUTHORS   Lechuga,S., Cartagena-Rivera,A.X., Khan,A., Crawford,B.I.,
            Narayanan,V., Conway,D.E., Lehtimaki,J., Lappalainen,P., Rieder,F.,
            Longworth,M.S. and Ivanov,A.I.
  TITLE     A myosin chaperone, UNC-45A, is a novel regulator of intestinal
            epithelial barrier integrity and repair
  JOURNAL   FASEB J 36 (5), e22290 (2022)
   PUBMED   35344227
  REMARK    GeneRIF: A myosin chaperone, UNC-45A, is a novel regulator of
            intestinal epithelial barrier integrity and repair.
REFERENCE   4  (bases 1 to 3252)
  AUTHORS   Li,Q., Zhou,Z., Sun,Y., Sun,C., Klappe,K. and van IJzendoorn,S.C.D.
  TITLE     A Functional Relationship Between UNC45A and MYO5B Connects Two
            Rare Diseases With Shared Enteropathy
  JOURNAL   Cell Mol Gastroenterol Hepatol 14 (2), 295-310 (2022)
   PUBMED   35421597
  REMARK    GeneRIF: A Functional Relationship Between UNC45A and MYO5B
            Connects Two Rare Diseases With Shared Enteropathy.
REFERENCE   5  (bases 1 to 3252)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 3252)
  AUTHORS   Chadli,A., Felts,S.J. and Toft,D.O.
  TITLE     GCUNC45 is the first Hsp90 co-chaperone to show alpha/beta isoform
            specificity
  JOURNAL   J Biol Chem 283 (15), 9509-9512 (2008)
   PUBMED   18285346
  REMARK    GeneRIF: GCUNC45 is required for the normal cellular distribution
            of Hsp90beta, but not Hsp90alpha.
REFERENCE   7  (bases 1 to 3252)
  AUTHORS   Bazzaro,M., Santillan,A., Lin,Z., Tang,T., Lee,M.K., Bristow,R.E.,
            Shih,Ie.M. and Roden,R.B.
  TITLE     Myosin II co-chaperone general cell UNC-45 overexpression is
            associated with ovarian cancer, rapid proliferation, and motility
  JOURNAL   Am J Pathol 171 (5), 1640-1649 (2007)
   PUBMED   17872978
  REMARK    GeneRIF: elevated GC UNC-45 protein expression in ovarian carcinoma
            proliferation and metastasis.
REFERENCE   8  (bases 1 to 3252)
  AUTHORS   Chadli,A., Graham,J.D., Abel,M.G., Jackson,T.A., Gordon,D.F.,
            Wood,W.M., Felts,S.J., Horwitz,K.B. and Toft,D.
  TITLE     GCUNC-45 is a novel regulator for the progesterone receptor/hsp90
            chaperoning pathway
  JOURNAL   Mol Cell Biol 26 (5), 1722-1730 (2006)
   PUBMED   16478993
  REMARK    GeneRIF: GCUNC-45 is a novel modulator of progesterone receptor
            chaperoning by hsp90.
REFERENCE   9  (bases 1 to 3252)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   10 (bases 1 to 3252)
  AUTHORS   Price,M.G., Landsverk,M.L., Barral,J.M. and Epstein,H.F.
  TITLE     Two mammalian UNC-45 isoforms are related to distinct cytoskeletal
            and muscle-specific functions
  JOURNAL   J Cell Sci 115 (Pt 21), 4013-4023 (2002)
   PUBMED   12356907
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC382051.1, AB014736.1 and
            BC006214.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 5, 2018 this sequence version replaced NM_018671.4.
            
            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 proliferation, and for the accumulation of myosin during
            development of muscle cells. [provided by RefSeq, Sep 2018].
            
            Transcript Variant: This variant (2) encodes the longer isoform
            (2).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.58861.1, BC006214.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000418476.2/ ENSP00000407487.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DC382051.1         1-17
            18-3251             AB014736.1         1-3234
            3252-3252           BC006214.1         3234-3234
FEATURES             Location/Qualifiers
     source          1..3252
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..3252
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /note="unc-45 myosin chaperone A"
                     /db_xref="GeneID:55898"
                     /db_xref="HGNC:HGNC:30594"
                     /db_xref="MIM:611219"
     exon            1..91
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..2875
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /note="isoform 2 is encoded by transcript variant 2;
                     general cell UNC45; protein unc-45 homolog A; smooth
                     muscle cell associated protein-1"
                     /codon_start=1
                     /product="protein unc-45 homolog A isoform 2"
                     /protein_id="NP_061141.2"
                     /db_xref="CCDS:CCDS10367.1"
                     /db_xref="GeneID:55898"
                     /db_xref="HGNC:HGNC:30594"
                     /db_xref="MIM:611219"
                     /translation="MTVSGPGTPEPRPATPGASSVEQLRKEGNELFKCGDYGGALAAY
                     TQALGLDATPQDQAVLHRNRAACHLKLEDYDKAETEASKAIEKDGGDVKALYRRSQAL
                     EKLGRLDQAVLDLQRCVSLEPKNKVFQEALRNIGGQIQEKVRYMSSTDAKVEQMFQIL
                     LDPEEKGTEKKQKASQNLVVLAREDAGAEKIFRSNGVQLLQRLLDMGETDLMLAALRT
                     LVGICSEHQSRTVATLSILGTRRVVSILGVESQAVSLAACHLLQVMFDALKEGVKKGF
                     RGKEGAIIVDPARELKVLISNLLDLLTEVGVSGQGRDNALTLLIKAVPRKSLKDPNNS
                     LTLWVIDQGLKKILEVGGSLQDPPGELAVTANSRMSASILLSKLFDDLKCDAERENFH
                     RLCENYIKSWFEGQGLAGKLRAIQTVSCLLQGPCDAGNRALELSGVMESVIALCASEQ
                     EEEQLVAVEALIHAAGKAKRASFITANGVSLLKDLYKCSEKDSIRIRALVGLCKLGSA
                     GGTDFSMKQFAEGSTLKLAKQCRKWLCNDQIDAGTRRWAVEGLAYLTFDADVKEEFVE
                     DAAALKALFQLSRLEERSVLFAVASALVNCTNSYDYEEPDPKMVELAKYAKQHVPEQH
                     PKDKPSFVRARVKKLLAAGVVSAMVCMVKTESPVLTSSCRELLSRVFLALVEEVEDRG
                     TVVAQGGGRALIPLALEGTDVGQTKAAQALAKLTITSNPEMTFPGERIYEVVRPLVSL
                     LHLNCSGLQNFEALMALTNLAGISERLRQKILKEKAVPMIEGYMFEEHEMIRRAATEC
                     MCNLAMSKEVQDLFEAQGNDRLKLLVLYSGEDDELLQRAAAGGLAMLTSMRPTLCSRI
                     PQVTTHWLEILQALLLSSNQELQHRGAVVVLNMVEASREIASTLMESEMMEILSVLAK
                     GDHSPVTRAAAACLDKAVEYGLIQPNQDGE"
     exon            92..253
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            254..290
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            291..466
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            467..559
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            560..727
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            728..896
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1067
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1239
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            1240..1540
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1635
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..1777
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..1918
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            1919..2046
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            2047..2113
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            2114..2227
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            2228..2343
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            2344..2461
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            2462..2617
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     exon            2618..3252
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3231..3236
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /note="hexamer: AATAAA"
     polyA_site      3252
                     /gene="UNC45A"
                     /gene_synonym="GC-UNC45; GCUNC-45; GCUNC45; IRO039700;
                     OOHE; SMAP-1; SMAP1; UNC-45A"
                     /note="major polyA site"
ORIGIN      
        1 agagactgcg cctgcgcggg cacgagacaa cctctccgcg atgactgtga gtggtccagg
       61 gacccccgag ccccggccgg ccacccccgg ggccagctca gtggagcagc tgcggaagga
      121 gggcaatgag ctgttcaaat gtggagacta cgggggcgcc ctggcggcct acactcaggc
      181 cctgggtctg gacgcgacgc cccaggacca ggccgttctg caccggaacc gggccgcctg
      241 ccacctcaag ctggaagatt acgacaaagc agaaacagag gcatccaaag ccattgaaaa
      301 ggatggtggg gatgtcaaag cactctaccg gcggagccaa gccctagaga agctgggccg
      361 cctggaccag gctgtccttg acctgcagag atgtgtgagc ttggagccca agaacaaagt
      421 tttccaggag gccttgcgga acatcggggg ccagattcag gagaaggtgc gatacatgtc
      481 ctcgacggat gccaaagtgg aacagatgtt tcagatactg ttggacccag aagagaaggg
      541 cactgagaaa aagcaaaagg cttctcagaa cctggtggtg ctggccaggg aggatgctgg
      601 agcggagaag atcttccgga gtaatggggt tcagctcttg caacgtttac tggacatggg
      661 agagactgac ctcatgctgg cggctctgcg tacgctggtt ggcatttgct ctgagcatca
      721 gtcacggaca gtggcaaccc tgagcatact gggaactcgg cgagtagtct ccatcctggg
      781 cgtggaaagc caggctgtgt ccctggctgc ctgccacctg ctgcaggtta tgtttgatgc
      841 cctcaaggaa ggtgtcaaaa aaggcttccg aggcaaagaa ggtgccatca ttgtggatcc
      901 tgcccgggag ctgaaggtcc tcatcagtaa cctcttagat ctgctgacag aggtgggggt
      961 ctctggccaa ggccgagaca atgccctgac cctcctgatt aaagcggtgc cccggaagtc
     1021 tctcaaggac cccaacaaca gcctcaccct ctgggtcatc gaccaaggtc tgaaaaagat
     1081 tttggaagtg gggggctctc tacaggaccc tcctggggag ctcgcagtga ccgcaaacag
     1141 ccgcatgagc gcctctattc tcctcagcaa gctctttgat gacctcaagt gtgatgcgga
     1201 gagggagaat ttccacagac tttgtgaaaa ctacatcaag agctggtttg agggccaagg
     1261 gctggccggg aagctacggg ccatccagac ggtgtcctgc ctcctgcagg gcccatgtga
     1321 cgctggcaac cgggccttgg agctgagcgg tgtcatggag agtgtgattg ctctgtgtgc
     1381 ctctgagcag gaggaggagc agctggtggc cgtggaggct ctgatccatg cagccggcaa
     1441 ggctaagcgg gcctcattca tcactgccaa tggtgtctcg ctgctgaagg acctatataa
     1501 gtgcagcgag aaggacagca tccgcatccg ggcgctagtg ggactctgta agctcggttc
     1561 ggctggaggg actgacttca gcatgaagca gtttgctgaa ggctccactc tcaaactggc
     1621 taagcagtgt cgaaagtggc tgtgcaatga ccagatcgac gcaggcactc ggcgctgggc
     1681 agtggagggc ctggcttacc tgacctttga tgccgacgtg aaggaagagt ttgtggagga
     1741 tgcggctgct ctgaaagctc tgttccagct cagcaggttg gaggagaggt cagtgctctt
     1801 tgcggtggcc tcagcgctgg tgaactgcac caacagctat gactacgagg agcccgaccc
     1861 caagatggtg gagctggcca agtatgccaa gcagcatgtg cccgagcagc accccaagga
     1921 caagccaagc ttcgtgcggg ctcgggtgaa gaagctgctg gcagcgggtg tggtgtcggc
     1981 catggtgtgc atggtgaaga cggagagccc tgtgctgacc agttcctgca gagagctgct
     2041 ctccagggtc ttcttggctt tagtggaaga ggtagaggac cgaggcactg tggttgccca
     2101 gggaggcggc agggcgctga tcccgctggc cctggaaggc acggacgtgg ggcagacaaa
     2161 ggcagcccag gcccttgcca agctcaccat cacctccaac ccggagatga ccttccctgg
     2221 cgagcggatc tatgaggtgg tccggcccct cgtctccctg ttgcacctca actgctcagg
     2281 cctgcagaac ttcgaggcgc tcatggccct aacaaacctg gctgggatca gcgagaggct
     2341 ccggcagaag atcctgaagg agaaggctgt gcccatgata gaaggctaca tgtttgagga
     2401 gcatgagatg atccgccggg cagccacgga gtgcatgtgt aacttggcca tgagcaagga
     2461 ggtgcaggac ctcttcgaag cccagggcaa tgaccgactg aagctgctgg tgctgtacag
     2521 tggagaggat gatgagctgc tacagcgggc agctgccggg ggcttggcca tgcttacctc
     2581 catgcggccc acgctctgca gccgcattcc ccaagtgacc acacactggc tggagatcct
     2641 gcaggccctg cttctgagct ccaaccagga gctgcagcac cggggtgctg tggtggtgct
     2701 gaacatggtg gaggcctcga gggagattgc cagcaccctg atggagagtg agatgatgga
     2761 gatcttgtca gtgctagcta agggtgacca cagccctgtc acaagggctg ctgcagcctg
     2821 cctggacaaa gcagtggaat atgggcttat ccaacccaac caagatggag agtgaggggg
     2881 ttgtccctgg gcccaaggct catgcacacg ctacctattg tggcacggag agtaaggacg
     2941 gaagcagctt tggctggtgg tggctggcat gcccaatact cttgcccatc ctcgcttgct
     3001 gccctaggat gtcctctgtt ctgagtcagc ggccacgttc agtcacacag ccctgcttgg
     3061 ccagcactgc ctgcagcctc actcagaggg gccctttttc tgtactactg tagtcagctg
     3121 ggaatgggga aggtgcatcc caacacagcc tgtggatcct ggggcatctg gaagggcgca
     3181 cacatcagca gcctcaccag ctgtgagcct gctatcaggc ctgcccctcc aataaaagtg
     3241 tgtagaactc ca
//
