LOCUS       NM_005861               1340 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens STIP1 homology and U-box containing protein 1 (STUB1),
            transcript variant 1, mRNA.
ACCESSION   NM_005861
VERSION     NM_005861.4
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 1340)
  AUTHORS   Cao,Y., Chen,F., Zhu,S., Zhu,D. and Qi,H.
  TITLE     Staphylococcus aureus infection initiates hypoxia-mediated STIP1
            homology and U-box containing protein 1 upregulation to trigger
            osteomyelitis
  JOURNAL   Toxicon 248, 108049 (2024)
   PUBMED   39059559
  REMARK    GeneRIF: Staphylococcus aureus infection initiates hypoxia-mediated
            STIP1 homology and U-box containing protein 1 upregulation to
            trigger osteomyelitis.
REFERENCE   2  (bases 1 to 1340)
  AUTHORS   van Prooije,T.H., Pennings,M., Dorresteijn,L., Gardeitchik,T.,
            Odekerken,V.J.J., Oosterloo,M., Pedersen,A.,
            Verschuuren-Bemelmans,C.C., Vrancken,A., Kamsteeg,E.J. and van de
            Warrenburg,B.P.C.
  TITLE     A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a
            Monogenic Disorder
  JOURNAL   Mov Disord 39 (9), 1636-1640 (2024)
   PUBMED   38973070
  REMARK    GeneRIF: A New Case Series Suggests That SCA48 (ATX/STUB1) Is
            Primarily a Monogenic Disorder.
REFERENCE   3  (bases 1 to 1340)
  AUTHORS   Baviera-Munoz,R., Carretero-Vilarroig,L., Pedro-Ibor,A., Jaijo,T.,
            Del Valle-Carranza,A., Martinez-Torres,I., Millan,J.M., Bataller,L.
            and Aller,E.
  TITLE     STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar
            Ataxia Type 8
  JOURNAL   Mov Disord 39 (9), 1641-1644 (2024)
   PUBMED   38962894
  REMARK    GeneRIF: STUB1 Mutations as Possible Genetic Modifiers in
            Spinocerebellar Ataxia Type 8.
REFERENCE   4  (bases 1 to 1340)
  AUTHORS   Tieliwaerdi,A., Aini,A., Amuti,M., Aierken,Y., Nijiati,M. and
            Luo,B.
  TITLE     STUB1 promotes the degradation of HSPB1 and induces ferroptosis in
            lung cancer cells
  JOURNAL   Environ Toxicol 39 (8), 4156-4170 (2024)
   PUBMED   38661247
  REMARK    GeneRIF: STUB1 promotes the degradation of HSPB1 and induces
            ferroptosis in lung cancer cells.
REFERENCE   5  (bases 1 to 1340)
  AUTHORS   Wang,W., Li,Y., Tang,L., Shi,Y., Li,W., Zou,L., Zhang,L., Cheng,Y.,
            Yuan,Z., Zhu,F. and Duan,Q.
  TITLE     Cross-talk between BCKDK-mediated phosphorylation and
            STUB1-dependent ubiquitination degradation of BCAT1 promotes GBM
            progression
  JOURNAL   Cancer Lett 591, 216849 (2024)
   PUBMED   38621458
  REMARK    GeneRIF: Cross-talk between BCKDK-mediated phosphorylation and
            STUB1-dependent ubiquitination degradation of BCAT1 promotes GBM
            progression.
REFERENCE   6  (bases 1 to 1340)
  AUTHORS   Murata,S., Minami,Y., Minami,M., Chiba,T. and Tanaka,K.
  TITLE     CHIP is a chaperone-dependent E3 ligase that ubiquitylates unfolded
            protein
  JOURNAL   EMBO Rep 2 (12), 1133-1138 (2001)
   PUBMED   11743028
REFERENCE   7  (bases 1 to 1340)
  AUTHORS   Jiang,J., Ballinger,C.A., Wu,Y., Dai,Q., Cyr,D.M., Hohfeld,J. and
            Patterson,C.
  TITLE     CHIP is a U-box-dependent E3 ubiquitin ligase: identification of
            Hsc70 as a target for ubiquitylation
  JOURNAL   J Biol Chem 276 (46), 42938-42944 (2001)
   PUBMED   11557750
REFERENCE   8  (bases 1 to 1340)
  AUTHORS   Connell,P., Ballinger,C.A., Jiang,J., Wu,Y., Thompson,L.J.,
            Hohfeld,J. and Patterson,C.
  TITLE     The co-chaperone CHIP regulates protein triage decisions mediated
            by heat-shock proteins
  JOURNAL   Nat Cell Biol 3 (1), 93-96 (2001)
   PUBMED   11146632
REFERENCE   9  (bases 1 to 1340)
  AUTHORS   Ballinger,C.A., Connell,P., Wu,Y., Hu,Z., Thompson,L.J., Yin,L.Y.
            and Patterson,C.
  TITLE     Identification of CHIP, a novel tetratricopeptide repeat-containing
            protein that interacts with heat shock proteins and negatively
            regulates chaperone functions
  JOURNAL   Mol Cell Biol 19 (6), 4535-4545 (1999)
   PUBMED   10330192
REFERENCE   10 (bases 1 to 1340)
  AUTHORS   Scanlan,M.J., Chen,Y.T., Williamson,B., Gure,A.O., Stockert,E.,
            Gordan,J.D., Tureci,O., Sahin,U., Pfreundschuh,M. and Old,L.J.
  TITLE     Characterization of human colon cancer antigens recognized by
            autologous antibodies
  JOURNAL   Int J Cancer 76 (5), 652-658 (1998)
   PUBMED   9610721
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF217968.1, BC017178.1 and
            Z92544.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005861.3.
            
            Summary: This gene encodes a protein containing tetratricopeptide
            repeat and a U-box that functions as a ubiquitin
            ligase/cochaperone. The encoded protein binds to and ubiquitinates
            shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta
            (Polb), among other targets. Mutations in this gene cause
            spinocerebellar ataxia, autosomal recessive 16. Alternative
            splicing results in multiple transcript variants. There is a
            pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun
            2014].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the longer isoform (a).
            
            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 :: SRR3476690.189232.1,
                                           SRR1163658.74836.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000219548.9/ ENSP00000219548.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-275               AF217968.1         187-461
            276-1285            AF217968.1         551-1560
            1286-1307           BC017178.1         1256-1277
            1308-1340           Z92544.1           10692-10724         c
FEATURES             Location/Qualifiers
     source          1..1340
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1340
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
                     /note="STIP1 homology and U-box containing protein 1"
                     /db_xref="GeneID:10273"
                     /db_xref="HGNC:HGNC:11427"
                     /db_xref="MIM:607207"
     exon            1..275
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..1028
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
                     /EC_number="2.3.2.27"
                     /note="isoform a is encoded by transcript variant 1;
                     serologically defined colon cancer antigen 7; heat shock
                     protein A binding protein 2 (c-terminal); antigen NY-CO-7;
                     CLL-associated antigen KW-8; E3 ubiquitin-protein ligase
                     CHIP; carboxy terminus of Hsp70-interacting protein; STIP1
                     homology and U-box containing protein 1, E3 ubiquitin
                     protein ligase; RING-type E3 ubiquitin transferase CHIP"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase CHIP isoform a"
                     /protein_id="NP_005852.2"
                     /db_xref="CCDS:CCDS10419.1"
                     /db_xref="GeneID:10273"
                     /db_xref="HGNC:HGNC:11427"
                     /db_xref="MIM:607207"
                     /translation="MKGKEEKEGGARLGAGGGSPEKSPSAQELKEQGNRLFVGRKYPE
                     AAACYGRAITRNPLVAVYYTNRALCYLKMQQHEQALADCRRALELDGQSVKAHFFLGQ
                     CQLEMESYDEAIANLQRAYSLAKEQRLNFGDDIPSALRIAKKKRWNSIEERRIHQESE
                     LHSYLSRLIAAERERELEECQRNHEGDEDDSHVRAQQACIEAKHDKYMADMDELFSQV
                     DEKRKKRDIPDYLCGKISFELMREPCITPSGITYDRKDIEEHLQRVGHFDPVTRSPLT
                     QEQLIPNLAMKEVIDAFISENGWVEDY"
     exon            276..474
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
                     /inference="alignment:Splign:2.1.0"
     exon            475..640
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
                     /inference="alignment:Splign:2.1.0"
     exon            641..728
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
                     /inference="alignment:Splign:2.1.0"
     exon            729..785
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
                     /inference="alignment:Splign:2.1.0"
     exon            786..902
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
                     /inference="alignment:Splign:2.1.0"
     exon            903..1340
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1266..1271
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
                     /note="hexamer: AATAAA"
     polyA_site      1285
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
                     /note="major polyA site"
     polyA_site      1340
                     /gene="STUB1"
                     /gene_synonym="CHIP; HSPABP2; NY-CO-7; SCA48; SCAR16;
                     SDCCAG7; UBOX1"
ORIGIN      
        1 ggagctgggc cgggcccgag cggatcgcgg gctcgggctg cggggctccg gctgcgggcg
       61 ctgggccgcg aggcgcggag cttgggagcg gagcccaggc cgtgccgcgc ggcgccatga
      121 agggcaagga ggagaaggag ggcggcgcac ggctgggcgc tggcggcgga agccccgaga
      181 agagcccgag cgcgcaggag ctcaaggagc agggcaatcg tctgttcgtg ggccgaaagt
      241 acccggaggc ggcggcctgc tacggccgcg cgatcacccg gaacccgctg gtggccgtgt
      301 attacaccaa ccgggccttg tgctacctga agatgcagca gcacgagcag gccctggccg
      361 actgccggcg cgccctggag ctggacgggc agtctgtgaa ggcgcacttc ttcctggggc
      421 agtgccagct ggagatggag agctatgatg aggccatcgc caatctgcag cgagcttaca
      481 gcctggccaa ggagcagcgg ctgaacttcg gggacgacat ccccagcgct cttcgaatcg
      541 cgaagaagaa gcgctggaac agcattgagg agcggcgcat ccaccaggag agcgagctgc
      601 actcctacct ctccaggctc attgccgcgg agcgtgagag ggagctggaa gagtgccagc
      661 gaaaccacga gggtgatgag gacgacagcc acgtccgggc ccagcaggcc tgcattgagg
      721 ccaagcacga caagtacatg gcggacatgg acgagctttt ttctcaggtg gatgagaaga
      781 ggaagaagcg agacatcccc gactacctgt gtggcaagat cagctttgag ctgatgcggg
      841 agccgtgcat cacgcccagt ggcatcacct acgaccgcaa ggacatcgag gagcacctgc
      901 agcgtgtggg tcattttgac cccgtgaccc ggagccccct gacccaggaa cagctcatcc
      961 ccaacttggc tatgaaggag gttattgacg cattcatctc tgagaatggc tgggtggagg
     1021 actactgagg ttccctgccc tacctggcgt cctggtccag gggagccctg ggcagaagcc
     1081 cccggcccct atacatagtt tatgttcctg gccaccccga ccgcttcccc caagttctgc
     1141 tgttggactc tggactgttt cccctctcag catcgctttt gctgggccgt gatcgtcccc
     1201 ctttgtgggc tggaaaagca ggtgagggtg ggctgggctg aggccattgc cgccactatc
     1261 tgtgtaataa aatccgtgag cacgaggtgg gacgtgctgg tgtgtgaccg gcagtcctgc
     1321 cagctgtttt ggctagccga
//
