LOCUS       NM_014365               1861 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens heat shock protein family B (small) member 8 (HSPB8),
            mRNA.
ACCESSION   NM_014365 XR_017379 XR_019602 XR_038402
VERSION     NM_014365.3
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 1861)
  AUTHORS   Wu,Y., Xiong,F. and Ling,J.
  TITLE     The role of heat shock protein B8 in neuronal protection against
            oxidative stress and mitochondrial dysfunction: A literature review
  JOURNAL   Int Immunopharmacol 140, 112836 (2024)
   PUBMED   39094362
  REMARK    GeneRIF: The role of heat shock protein B8 in neuronal protection
            against oxidative stress and mitochondrial dysfunction: A
            literature review.
            Review article
REFERENCE   2  (bases 1 to 1861)
  AUTHORS   Rashid,N., Juneja,P., Rathi,A., Sultan,I. and Rehman,S.U.
  TITLE     Identification of Alternatively Spliced Novel Isoforms of Human
            HSPB8 Gene
  JOURNAL   Protein J 43 (4), 782-792 (2024)
   PUBMED   38980537
  REMARK    GeneRIF: Identification of Alternatively Spliced Novel Isoforms of
            Human HSPB8 Gene.
REFERENCE   3  (bases 1 to 1861)
  AUTHORS   Li,J., Tang,X. and Zhang,Z.
  TITLE     Eukaryotic Elongation Factor 1Alpha-2 (EEF1A2) Participates in the
            Progression of Gastric Cancer via Interaction with Heat Shock
            Protein B8 (HSPB8)
  JOURNAL   Ann Clin Lab Sci 53 (3), 398-408 (2023)
   PUBMED   37437931
  REMARK    GeneRIF: Eukaryotic Elongation Factor 1Alpha-2 (EEF1A2)
            Participates in the Progression of Gastric Cancer via Interaction
            with Heat Shock Protein B8 (HSPB8).
REFERENCE   4  (bases 1 to 1861)
  AUTHORS   Wang,J., Zhao,C., Zhang,B. and Liu,X.
  TITLE     Macrophage-specific autophagy-related gene HSPB8 is involved in the
            macrophage polarization in atherosclerosis
  JOURNAL   BMC Cardiovasc Disord 23 (1), 141 (2023)
   PUBMED   36934244
  REMARK    GeneRIF: Macrophage-specific autophagy-related gene HSPB8 is
            involved in the macrophage polarization in atherosclerosis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1861)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   6  (bases 1 to 1861)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
REFERENCE   7  (bases 1 to 1861)
  AUTHORS   Timmerman,V., Raeymaekers,P., Nelis,E., De Jonghe,P., Muylle,L.,
            Ceuterick,C., Martin,J.J. and Van Broeckhoven,C.
  TITLE     Linkage analysis of distal hereditary motor neuropathy type II
            (distal HMN II) in a single pedigree
  JOURNAL   J Neurol Sci 109 (1), 41-48 (1992)
   PUBMED   1517763
REFERENCE   8  (bases 1 to 1861)
  AUTHORS   Jansen,P.H., Joosten,E.M., Jaspar,H.H. and Vingerhoets,H.M.
  TITLE     A rapidly progressive autosomal dominant scapulohumeral form of
            spinal muscular atrophy
  JOURNAL   Ann Neurol 20 (4), 538-540 (1986)
   PUBMED   3789668
REFERENCE   9  (bases 1 to 1861)
  AUTHORS   Berciano,J., Combarros,O., Figols,J., Calleja,J., Cabello,A.,
            Silos,I. and Coria,F.
  TITLE     Hereditary motor and sensory neuropathy type II.
            Clinicopathological study of a family
  JOURNAL   Brain 109 (Pt 5), 897-914 (1986)
   PUBMED   3022865
REFERENCE   10 (bases 1 to 1861)
  AUTHORS   Meadows,J.C. and Marsden,C.D.
  TITLE     A distal form of chronic spinal muscular atrophy
  JOURNAL   Neurology 19 (1), 53-58 (1969)
   PUBMED   5813127
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002673.2.
            
            On Dec 4, 2019 this sequence version replaced NM_014365.2.
            
            Summary: The protein encoded by this gene belongs to the
            superfamily of small heat-shock proteins containing a conservative
            alpha-crystallin domain at the C-terminal part of the molecule. The
            expression of this gene in induced by estrogen in estrogen
            receptor-positive breast cancer cells, and this protein also
            functions as a chaperone in association with Bag3, a stimulator of
            macroautophagy. Thus, this gene appears to be involved in
            regulation of cell proliferation, apoptosis, and carcinogenesis,
            and mutations in this gene have been associated with different
            neuromuscular diseases, including Charcot-Marie-Tooth disease.
            [provided by RefSeq, Jul 2008].
            
            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 :: BC002673.2, AL136936.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000281938.7/ ENSP00000281938.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1861              BC002673.2         110-1970
FEATURES             Location/Qualifiers
     source          1..1861
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.23"
     gene            1..1861
                     /gene="HSPB8"
                     /gene_synonym="CMT2L; DHMN2; E2IG1; H11; HMN2; HMN2A;
                     HMND2; HSP22; HSPB8-N1; HSPB8-N2; MFM13"
                     /note="heat shock protein family B (small) member 8"
                     /db_xref="GeneID:26353"
                     /db_xref="HGNC:HGNC:30171"
                     /db_xref="MIM:608014"
     exon            1..749
                     /gene="HSPB8"
                     /gene_synonym="CMT2L; DHMN2; E2IG1; H11; HMN2; HMN2A;
                     HMND2; HSP22; HSPB8-N1; HSPB8-N2; MFM13"
                     /inference="alignment:Splign:2.1.0"
     CDS             383..973
                     /gene="HSPB8"
                     /gene_synonym="CMT2L; DHMN2; E2IG1; H11; HMN2; HMN2A;
                     HMND2; HSP22; HSPB8-N1; HSPB8-N2; MFM13"
                     /note="heat shock 27kDa protein 8; protein kinase H11;
                     small stress protein-like protein HSP22; heat shock 22kDa
                     protein 8; alpha-crystallin C chain; E2-induced gene 1
                     protein; heat shock protein family B member 8"
                     /codon_start=1
                     /product="heat shock protein beta-8"
                     /protein_id="NP_055180.1"
                     /db_xref="CCDS:CCDS9189.1"
                     /db_xref="GeneID:26353"
                     /db_xref="HGNC:HGNC:30171"
                     /db_xref="MIM:608014"
                     /translation="MADGQMPFSCHYPSRLRRDPFRDSPLSSRLLDDGFGMDPFPDDL
                     TASWPDWALPRLSSAWPGTLRSGMVPRGPTATARFGVPAEGRTPPPFPGEPWKVCVNV
                     HSFKPEELMVKTKDGYVEVSGKHEEKQQEGGIVSKNFTKKIQLPAEVDPVTVFASLSP
                     EGLLIIEAPQVPPYSTFGESSFNNELPQDSQEVTCT"
     exon            750..813
                     /gene="HSPB8"
                     /gene_synonym="CMT2L; DHMN2; E2IG1; H11; HMN2; HMN2A;
                     HMND2; HSP22; HSPB8-N1; HSPB8-N2; MFM13"
                     /inference="alignment:Splign:2.1.0"
     exon            814..1861
                     /gene="HSPB8"
                     /gene_synonym="CMT2L; DHMN2; E2IG1; H11; HMN2; HMN2A;
                     HMND2; HSP22; HSPB8-N1; HSPB8-N2; MFM13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1840..1845
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSPB8"
                     /gene_synonym="CMT2L; DHMN2; E2IG1; H11; HMN2; HMN2A;
                     HMND2; HSP22; HSPB8-N1; HSPB8-N2; MFM13"
                     /note="hexamer: AATAAA"
     polyA_site      1861
                     /gene="HSPB8"
                     /gene_synonym="CMT2L; DHMN2; E2IG1; H11; HMN2; HMN2A;
                     HMND2; HSP22; HSPB8-N1; HSPB8-N2; MFM13"
                     /note="major polyA site"
ORIGIN      
        1 agaagaagtt tctaggcgcg cgtgccctgg gtttattaag ctcctggctc cgctctagac
       61 ctcagcggtt ctggctgcca gcctgggcag cctgggaagc ctgggaggac ggtggcttgc
      121 cggtctgtcg tgaggcagtg cggacgggga ccctctggga ttctgctgga tctgccccgg
      181 gggttacctt tgggggctgg gaccccagtc gaggggacac aaccgtccct ggcagtggtt
      241 ggttctgctt ctccctgcag aaaagcagca ttttcggaag ctgaagaata agctagccca
      301 gccacaccac cttgttgtgt gaccttgggc aggtggttct gtctctctga gcctctgttt
      361 ctctctgagc tgagcagcca ccatggctga cggtcagatg cccttctcct gccactaccc
      421 aagccgcctg cgccgagacc ccttccggga ctctcccctc tcctctcgcc tgctggatga
      481 tggctttggc atggacccct tcccagacga cttgacagcc tcttggcccg actgggctct
      541 gcctcgtctc tcctccgcct ggccaggcac cctaaggtcg ggcatggtgc cccggggccc
      601 cactgccacc gccaggtttg gggtgcctgc cgagggcagg acccccccac ccttccctgg
      661 ggagccctgg aaagtgtgtg tgaatgtgca cagcttcaag ccagaggagt tgatggtgaa
      721 gaccaaagat ggatacgtgg aggtgtctgg caaacatgaa gagaaacagc aagaaggtgg
      781 cattgtttct aagaacttca caaagaaaat ccagcttcct gcagaggtgg atcctgtgac
      841 agtatttgcc tcactttccc cagagggtct gctgatcatc gaagctcccc aggtccctcc
      901 ttactcaaca tttggagaga gcagtttcaa caacgagctt ccccaggaca gccaggaagt
      961 cacctgtacc tgagatgcca gtactggccc atccttgttt tgtccccaac cctagggctt
     1021 ctctgattcc aggatacatt actttagctg aactcagatt tagtgcaagt aaaatgttag
     1081 agggtgcggg ggtgaggact gaccacagat tccctggata gtgtagtggt agatttctcc
     1141 acaggatagc gcaattggca aatcatgctt ggttgtgtta ggccaaaata ctagttttgc
     1201 tttctttacc ttttctatct tgatgaaaat gttgcacatt ctatagttgc aaaacacata
     1261 aaaggggact taacatttca cgttgtatct tacttgcagt gaatgcaagg gttacttttc
     1321 tctggggacc tcccccatca cccaggttcc tactctgggc tcccgattcc catggctccc
     1381 aaaccatgcc gcatggtttg gttaatgaaa cccagtagct aaccccactg tgcttccaca
     1441 tgcctggcct aaaatgggtg atatacaggt cttatatccc catatggaat ttatccatca
     1501 accacataaa aacaaacagt gccttctgcc ctctgcccag atgtgtccag cacgttctca
     1561 aagtttccac attagcactc cctaaggacg ctgggagcct gtcagtttat gatctgacct
     1621 aggtcccccc tttcttctgt cccctgtgtt taagtcggga tttttacaga gggagctgtc
     1681 tccagacagc tccatcagga accaagcaaa ggccagatag cctgacagat aggctagtgg
     1741 tattgtgtat atgggcggga cgtgtgtgtc attattattt gagttatgct gttgtttagg
     1801 ggtaaataac agtaaataat taataataat aataataata ataaaggagc tgacgttctt
     1861 a
//
