LOCUS       NM_014424               2144 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens heat shock protein family B (small) member 7 (HSPB7),
            transcript variant 2, mRNA.
ACCESSION   NM_014424
VERSION     NM_014424.5
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 2144)
  AUTHORS   Chen,Z., Li,P., Shen,L. and Jiang,X.
  TITLE     Heat shock protein B7 (HSPB7) inhibits lung adenocarcinoma
            progression by inhibiting glycolysis
  JOURNAL   Oncol Rep 50 (5) (2023)
   PUBMED   37732539
  REMARK    GeneRIF: Heat shock protein B7 (HSPB7) inhibits lung adenocarcinoma
            progression by inhibiting glycolysis.
REFERENCE   2  (bases 1 to 2144)
  AUTHORS   Zhang,S., van de Peppel,J., Koedam,M., van Leeuwen,J.P.T.M. and van
            der Eerden,B.C.J.
  TITLE     HSPB7 oppositely regulates human mesenchymal stromal cell-derived
            osteogenesis and adipogenesis
  JOURNAL   Stem Cell Res Ther 14 (1), 126 (2023)
   PUBMED   37170285
  REMARK    GeneRIF: HSPB7 oppositely regulates human mesenchymal stromal
            cell-derived osteogenesis and adipogenesis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2144)
  AUTHORS   Muranova,L.K., Shatov,V.M., Slushchev,A.V. and Gusev,N.B.
  TITLE     Is the small heat shock protein HSPB7 (cvHsp) a genuine
            actin-binding protein?
  JOURNAL   Biochimie 202, 103-109 (2022)
   PUBMED   35977674
  REMARK    GeneRIF: Is the small heat shock protein HSPB7 (cvHsp) a genuine
            actin-binding protein?
REFERENCE   4  (bases 1 to 2144)
  AUTHORS   Muranova,L.K., Shatov,V.M., Bukach,O.V. and Gusev,N.B.
  TITLE     Cardio-Vascular Heat Shock Protein (cvHsp, HspB7), an Unusual
            Representative of Small Heat Shock Protein Family
  JOURNAL   Biochemistry (Mosc) 86 (Suppl 1), S1-S11 (2021)
   PUBMED   33827396
  REMARK    GeneRIF: Cardio-Vascular Heat Shock Protein (cvHsp, HspB7), an
            Unusual Representative of Small Heat Shock Protein Family.
            Review article
REFERENCE   5  (bases 1 to 2144)
  AUTHORS   Jin,C., Shuai,T. and Tang,Z.
  TITLE     HSPB7 regulates osteogenic differentiation of human adipose derived
            stem cells via ERK signaling pathway
  JOURNAL   Stem Cell Res Ther 11 (1), 450 (2020)
   PUBMED   33097082
  REMARK    GeneRIF: HSPB7 regulates osteogenic differentiation of human
            adipose derived stem cells via ERK signaling pathway.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2144)
  AUTHORS   Cappola,T.P., Li,M., He,J., Ky,B., Gilmore,J., Qu,L., Keating,B.,
            Reilly,M., Kim,C.E., Glessner,J., Frackelton,E., Hakonarson,H.,
            Syed,F., Hindes,A., Matkovich,S.J., Cresci,S. and Dorn,G.W. 2nd.
  TITLE     Common variants in HSPB7 and FRMD4B associated with advanced heart
            failure
  JOURNAL   Circ Cardiovasc Genet 3 (2), 147-154 (2010)
   PUBMED   20124441
  REMARK    GeneRIF: The rs1738943 shows that although this SNP is located
            within HSPB7, it resides in a block of high LD that spans HSPB7 and
            a nearby gene, CLCNKA, which encodes a voltage-sensitive chloride
            channel expressed mainly in the kidney.
REFERENCE   7  (bases 1 to 2144)
  AUTHORS   Matkovich,S.J., Van Booven,D.J., Hindes,A., Kang,M.Y., Druley,T.E.,
            Vallania,F.L., Mitra,R.D., Reilly,M.P., Cappola,T.P. and Dorn,G.W.
            2nd.
  TITLE     Cardiac signaling genes exhibit unexpected sequence diversity in
            sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated
            with disease
  JOURNAL   J Clin Invest 120 (1), 280-289 (2010)
   PUBMED   20038796
  REMARK    GeneRIF: Cardiac signaling genes exhibit unexpected sequence
            diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms
            associated with disease.
REFERENCE   8  (bases 1 to 2144)
  AUTHORS   Vos,M.J., Kanon,B. and Kampinga,H.H.
  TITLE     HSPB7 is a SC35 speckle resident small heat shock protein
  JOURNAL   Biochim Biophys Acta 1793 (8), 1343-1353 (2009)
   PUBMED   19464326
  REMARK    GeneRIF: HSPB7 constitutively localized to SC35 splicing speckles,
            driven by its N-terminus. Unlike HSPB1 and HSPB5, that chaperoned
            heat unfolded substrates and kept them folding competent, HSPB7 did
            not support refolding.
            Erratum:[Biochim Biophys Acta. 2009 Dec;1793(12):1929-30]
REFERENCE   9  (bases 1 to 2144)
  AUTHORS   Sun,X., Fontaine,J.M., Rest,J.S., Shelden,E.A., Welsh,M.J. and
            Benndorf,R.
  TITLE     Interaction of human HSP22 (HSPB8) with other small heat shock
            proteins
  JOURNAL   J Biol Chem 279 (4), 2394-2402 (2004)
   PUBMED   14594798
REFERENCE   10 (bases 1 to 2144)
  AUTHORS   Krief,S., Faivre,J.F., Robert,P., Le Douarin,B.,
            Brument-Larignon,N., Lefrere,I., Bouzyk,M.M., Anderson,K.M.,
            Greller,L.D., Tobin,F.L., Souchet,M. and Bril,A.
  TITLE     Identification and characterization of cvHsp. A novel human small
            stress protein selectively expressed in cardiovascular and
            insulin-sensitive tissues
  JOURNAL   J Biol Chem 274 (51), 36592-36600 (1999)
   PUBMED   10593960
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355994.11, BC006319.2,
            AJ243191.1 and CR749298.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 21, 2020 this sequence version replaced NM_014424.4.
            
            Summary: This gene encodes a small heat shock family B member that
            can heterodimerize with similar heat shock proteins. Defects in
            this gene are associated with advanced heart failure. In addition,
            the encoded protein may be a tumor suppressor in the p53 pathway,
            with defects in this gene being associated with renal cell
            carcinoma. [provided by RefSeq, Mar 2017].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (2)
            has a shorter and distinct N-terminus compared to isoform 1.
            
            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 :: BC006319.2, AK095911.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154361, SAMEA2155550
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311890.14/ ENSP00000310111.9
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-179               AL355994.11        49093-49271         c
            180-430             BC006319.2         593-843
            431-709             AJ243191.1         425-703
            710-2117            AL355994.11        45284-46691         c
            2118-2144           CR749298.1         2129-2155
FEATURES             Location/Qualifiers
     source          1..2144
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..2144
                     /gene="HSPB7"
                     /gene_synonym="cvHSP"
                     /note="heat shock protein family B (small) member 7"
                     /db_xref="GeneID:27129"
                     /db_xref="HGNC:HGNC:5249"
                     /db_xref="MIM:610692"
     exon            1..279
                     /gene="HSPB7"
                     /gene_synonym="cvHSP"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..593
                     /gene="HSPB7"
                     /gene_synonym="cvHSP"
                     /note="isoform 2 is encoded by transcript variant 2;
                     cardiovascular heat shock protein; heat shock 27kD protein
                     family, member 7 (cardiovascular); heat shock protein
                     beta-7; heat shock 27kDa protein family, member 7
                     (cardiovascular)"
                     /codon_start=1
                     /product="heat shock protein beta-7 isoform 2"
                     /protein_id="NP_055239.1"
                     /db_xref="CCDS:CCDS30611.1"
                     /db_xref="GeneID:27129"
                     /db_xref="HGNC:HGNC:5249"
                     /db_xref="MIM:610692"
                     /translation="MSHRTSSTFRAERSFHSSSSSSSSSTSSSASRALPAQDPPMEKA
                     LSMFSDDFGSFMRPHSEPLAFPARPGGAGNIKTLGDAYEFAVDVRDFSPEDIIVTTSN
                     NHIEVRAEKLAADGTVMNTFAHKCQLPEDVDPTSVTSALREDGSLTIRARRHPHTEHV
                     QQTFRTEIKI"
     exon            280..413
                     /gene="HSPB7"
                     /gene_synonym="cvHSP"
                     /inference="alignment:Splign:2.1.0"
     exon            414..2144
                     /gene="HSPB7"
                     /gene_synonym="cvHSP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2124..2129
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSPB7"
                     /gene_synonym="cvHSP"
                     /note="hexamer: AATAAA"
     polyA_site      2144
                     /gene="HSPB7"
                     /gene_synonym="cvHSP"
                     /note="major polyA site"
ORIGIN      
        1 acgctcgccc agaggcctgc gcccacaccc tctcctgtcc agccctcgcc cgcctgggca
       61 gggcccggcg ccgtccgtgg atgagccaca gaacctcttc caccttccga gcggagagaa
      121 gtttccattc ctcttcctct tcctcctcct cttccacctc ctcctcggcc tcccgtgctc
      181 tcccggccca ggacccgccc atggagaagg ccctgagcat gttttccgat gactttggca
      241 gcttcatgcg gccccactcg gagcccctgg ccttcccagc ccgccccggt ggggcaggca
      301 acatcaagac cctaggagac gcctatgagt ttgcggtgga cgtgagagac ttctcacctg
      361 aagacatcat tgtcaccacc tccaacaacc acatcgaggt gcgggctgag aagctggcgg
      421 ctgacggcac tgtcatgaac accttcgctc acaagtgcca gctgccggag gacgtggacc
      481 cgacgtcggt gacctcggct ctgcgggagg acggcagcct cactatccgg gcacggcgtc
      541 acccgcatac agaacacgtc cagcagacct tccggacgga gatcaaaatc tgagtgcctc
      601 tcccttccct ttccctgtcc ccccgcccca cgcctgccag caaagcctcg ctaaccccat
      661 tacaacagct ccaggacatc tcagcccagg ttctagcccc cacgcacccc agaccccagg
      721 tggaccatcc tcccaaacta gggccctcca ctctatccag ggcaggccag ggactccctg
      781 gcctgacaca tgatgcccag atttcagatt tggcctccgt cacttaatcc agagtacagg
      841 ggctggggtc agggaaggaa gatctaaaga acccactgtg ggtcagggga atgggaccag
      901 caggacatat gggcaagctc tgcaggacag acagacagac aaaccctctg atctatgaag
      961 tctctgcagg gcaaggggac cagggacctg gaaccctctt ggccaagggg agtgggaggg
     1021 acagagggaa ggtcacaggc aagggtgcct atctaagtgg aactaattgc ccgagggctc
     1081 agcaaggcca agaggagaca gccgtgacgg taaacttccc ctctaccagc ctccaagccc
     1141 cacgccagcg agcaggctgc ctgcccaccc cgtgccccca gccagctggc tgtgccaggg
     1201 cagagccatg ccacatctgt atatagatgg ggtttttcca atacagctgg ttcgtgataa
     1261 actgcatgaa actcctgccg tcctgcgcct gctggggcct ccaggcaagg ccaagtgggg
     1321 ttgggggtgg ggctggtcct tctccctccc acaggcctgt gttcttgggg ctgctcccat
     1381 gcagacagga tcacctaaca gagatggaag ccagggcatg gatggggctt tgggtcctcg
     1441 aggttggacc ccagcttctt gccaccttcc cctccgggca gtcagctctc catccatccc
     1501 cctctttaat ctatgaatct ataggctcgg tgtgtgtaac acacacaccc ctatcgttgt
     1561 ccttcaaata ctcagcatta ccattggttg aggccaaatt cagagctttc tcaaatcaga
     1621 tttacaatct ccattttcat taacggggaa acatccccga gccactgagt gctgtgcttt
     1681 gtcactgaag gttagatctg aacccagggt gtcaactgct gctctcaact ccccacctct
     1741 gggcactgag gagtatttcc cctcattcta cctctctaag gctatgcaac cctccccacg
     1801 tcttccagct gggggatggg ggggagtcat aggaaaagcc cccatctccc atctgggata
     1861 gggaccttcc atcagcctta accctgggaa atgcctgctg cccccaatga ctcttggttt
     1921 cgtctcccac atacagaagc agggtggagg ggaagggtgg gtctcagtta gcaggggtcc
     1981 ccagggcaag tcagcctcct ccctccatgc ctctctggtc agtgtgcctt agggtggcct
     2041 ctcactccca ccactctggg ccccttgggg gaggactggg gagggggccg tgggagagcc
     2101 ctgacgctgg aacctgtata cacaataaag gacagtctca caga
//
