LOCUS       NM_002156               2245 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens heat shock protein family D (Hsp60) member 1 (HSPD1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_002156
VERSION     NM_002156.5
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 2245)
  AUTHORS   Comert,C., Kjaer-Sorensen,K., Hansen,J., Carlsen,J., Just,J.,
            Meaney,B.F., Ostergaard,E., Luo,Y., Oxvig,C., Schmidt-Laursen,L.,
            Palmfeldt,J., Fernandez-Guerra,P. and Bross,P.
  TITLE     HSP60 chaperone deficiency disrupts the mitochondrial matrix
            proteome and dysregulates cholesterol synthesis
  JOURNAL   Mol Metab 88, 102009 (2024)
   PUBMED   39147275
  REMARK    GeneRIF: HSP60 chaperone deficiency disrupts the mitochondrial
            matrix proteome and dysregulates cholesterol synthesis.
REFERENCE   2  (bases 1 to 2245)
  AUTHORS   Zhu,C., Duan,Y., Dong,J., Jia,H., Zhang,L., Xing,A., Li,Z., Du,B.,
            Sun,Q., Huang,Y., Zhang,Z. and Pan,L.
  TITLE     Quantitative analysis of the lysine acetylome reveals the role of
            SIRT3-mediated HSP60 deacetylation in suppressing intracellular
            Mycobacterium tuberculosis survival
  JOURNAL   Microbiol Spectr 12 (8), e0074924 (2024)
   PUBMED   38916288
  REMARK    GeneRIF: Quantitative analysis of the lysine acetylome reveals the
            role of SIRT3-mediated HSP60 deacetylation in suppressing
            intracellular Mycobacterium tuberculosis survival.
REFERENCE   3  (bases 1 to 2245)
  AUTHORS   Aluksanasuwan,S., Somsuan,K., Ngoenkam,J., Chiangjong,W.,
            Rongjumnong,A., Morchang,A., Chutipongtanate,S. and Pongcharoen,S.
  TITLE     Knockdown of heat shock protein family D member 1 (HSPD1) in lung
            cancer cell altered secretome profile and cancer-associated
            fibroblast induction
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (5), 119736 (2024)
   PUBMED   38663552
  REMARK    GeneRIF: Knockdown of heat shock protein family D member 1 (HSPD1)
            in lung cancer cell altered secretome profile and cancer-associated
            fibroblast induction.
REFERENCE   4  (bases 1 to 2245)
  AUTHORS   Weiss,C., Berruezo,A.G., Seraidy,S., Parnas,A., Tascon,I.,
            Ubarretxena-Belandia,I. and Azem,A.
  TITLE     Purification of functional recombinant human mitochondrial Hsp60
  JOURNAL   Methods Enzymol 707, 423-440 (2024)
   PUBMED   39488385
  REMARK    GeneRIF: Purification of functional recombinant human mitochondrial
            Hsp60.
REFERENCE   5  (bases 1 to 2245)
  AUTHORS   Aluksanasuwan,S., Somsuan,K., Ngoenkam,J., Chutipongtanate,S. and
            Pongcharoen,S.
  TITLE     Potential association of HSPD1 with dysregulations in ribosome
            biogenesis and immune cell infiltration in lung adenocarcinoma: An
            integrated bioinformatic approach
  JOURNAL   Cancer Biomark 39 (3), 155-170 (2024)
   PUBMED   37694354
  REMARK    GeneRIF: Potential association of HSPD1 with dysregulations in
            ribosome biogenesis and immune cell infiltration in lung
            adenocarcinoma: An integrated bioinformatic approach.
REFERENCE   6  (bases 1 to 2245)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   7  (bases 1 to 2245)
  AUTHORS   Hochstrasser,D.F., Frutiger,S., Paquet,N., Bairoch,A., Ravier,F.,
            Pasquali,C., Sanchez,J.C., Tissot,J.D., Bjellqvist,B., Vargas,R. et
            al.
  TITLE     Human liver protein map: a reference database established by
            microsequencing and gel comparison
  JOURNAL   Electrophoresis 13 (12), 992-1001 (1992)
   PUBMED   1286669
REFERENCE   8  (bases 1 to 2245)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   9  (bases 1 to 2245)
  AUTHORS   Brudzynski,K., Martinez,V. and Gupta,R.S.
  TITLE     Immunocytochemical localization of heat-shock protein 60-related
            protein in beta-cell secretory granules and its altered
            distribution in non-obese diabetic mice
  JOURNAL   Diabetologia 35 (4), 316-324 (1992)
   PUBMED   1516759
REFERENCE   10 (bases 1 to 2245)
  AUTHORS   Ikawa,S. and Weinberg,R.A.
  TITLE     An interaction between p21ras and heat shock protein hsp60, a
            chaperonin
  JOURNAL   Proc Natl Acad Sci U S A 89 (6), 2012-2016 (1992)
   PUBMED   1347942
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU098504.1 and BC002676.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_002156.4.
            
            Summary: This gene encodes a member of the chaperonin family. The
            encoded mitochondrial protein may function as a signaling molecule
            in the innate immune system. This protein is essential for the
            folding and assembly of newly imported proteins in the
            mitochondria. This gene is adjacent to a related family member and
            the region between the 2 genes functions as a bidirectional
            promoter. Several pseudogenes have been associated with this gene.
            Two transcript variants encoding the same protein have been
            identified for this gene. Mutations associated with this gene cause
            autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun
            2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 encode the same protein.
            
            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 :: SRR3476690.1160801.1,
                                           SRR5189658.221374.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000388968.8/
                                                  ENSP00000373620.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-46                AU098504.1         79-124
            47-2245             BC002676.2         33-2231
FEATURES             Location/Qualifiers
     source          1..2245
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..2245
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /note="heat shock protein family D (Hsp60) member 1"
                     /db_xref="GeneID:3329"
                     /db_xref="HGNC:HGNC:5261"
                     /db_xref="MIM:118190"
     exon            1..59
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     exon            60..235
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..1783
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /EC_number="5.6.1.7"
                     /note="heat shock protein 65; P60 lymphocyte protein;
                     mitochondrial matrix protein P1; short heat shock protein
                     60 Hsp60s1; chaperonin 60; heat shock 60kDa protein 1
                     (chaperonin); 60 kDa chaperonin; epididymis secretory
                     sperm binding protein; heat shock protein family D member
                     1"
                     /codon_start=1
                     /product="60 kDa heat shock protein, mitochondrial"
                     /protein_id="NP_002147.2"
                     /db_xref="CCDS:CCDS33357.1"
                     /db_xref="GeneID:3329"
                     /db_xref="HGNC:HGNC:5261"
                     /db_xref="MIM:118190"
                     /translation="MLRLPTVFRQMRPVSRVLAPHLTRAYAKDVKFGADARALMLQGV
                     DLLADAVAVTMGPKGRTVIIEQSWGSPKVTKDGVTVAKSIDLKDKYKNIGAKLVQDVA
                     NNTNEEAGDGTTTATVLARSIAKEGFEKISKGANPVEIRRGVMLAVDAVIAELKKQSK
                     PVTTPEEIAQVATISANGDKEIGNIISDAMKKVGRKGVITVKDGKTLNDELEIIEGMK
                     FDRGYISPYFINTSKGQKCEFQDAYVLLSEKKISSIQSIVPALEIANAHRKPLVIIAE
                     DVDGEALSTLVLNRLKVGLQVVAVKAPGFGDNRKNQLKDMAIATGGAVFGEEGLTLNL
                     EDVQPHDLGKVGEVIVTKDDAMLLKGKGDKAQIEKRIQEIIEQLDVTTSEYEKEKLNE
                     RLAKLSDGVAVLKVGGTSDVEVNEKKDRVTDALNATRAAVEEGIVLGGGCALLRCIPA
                     LDSLTPANEDQKIGIEIIKRTLKIPAMTIAKNAGVEGSLIVEKIMQSSSEVGYDAMAG
                     DFVNMVEKGIIDPTKVVRTALLDAAGVASLLTTAEVVVTEIPKEEKDPGMGAMGGMGG
                     GMGGGMF"
     exon            236..488
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     exon            489..571
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     exon            572..667
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     exon            668..761
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     exon            762..930
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1030
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1276
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     exon            1277..1451
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1630
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     exon            1631..2245
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2223..2228
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /note="hexamer: AATAAA"
     polyA_site      2245
                     /gene="HSPD1"
                     /gene_synonym="CPN60; GROEL; HLD4; HSP-60; HSP60; HSP65;
                     HuCHA60; SPG13"
                     /note="major polyA site"
ORIGIN      
        1 ccctcactcg ccgccgacga cctgtctcgc cgagcgcacg ccttgccgcc gccccgcaga
       61 aatgcttcgg ttacccacag tctttcgcca gatgagaccg gtgtccaggg tactggctcc
      121 tcatctcact cgggcttatg ccaaagatgt aaaatttggt gcagatgccc gagccttaat
      181 gcttcaaggt gtagaccttt tagccgatgc tgtggccgtt acaatggggc caaagggaag
      241 aacagtgatt attgagcaga gttggggaag tcccaaagta acaaaagatg gtgtgactgt
      301 tgcaaagtca attgacttaa aagataaata caaaaacatt ggagctaaac ttgttcaaga
      361 tgttgccaat aacacaaatg aagaagctgg ggatggcact accactgcta ctgtactggc
      421 acgctctata gccaaggaag gcttcgagaa gattagcaaa ggtgctaatc cagtggaaat
      481 caggagaggt gtgatgttag ctgttgatgc tgtaattgct gaacttaaaa agcagtctaa
      541 acctgtgacc acccctgaag aaattgcaca ggttgctacg atttctgcaa acggagacaa
      601 agaaattggc aatatcatct ctgatgcaat gaaaaaagtt ggaagaaagg gtgtcatcac
      661 agtaaaggat ggaaaaacac tgaatgatga attagaaatt attgaaggca tgaagtttga
      721 tcgaggctat atttctccat actttattaa tacatcaaaa ggtcagaaat gtgaattcca
      781 ggatgcctat gttctgttga gtgaaaagaa aatttctagt atccagtcca ttgtacctgc
      841 tcttgaaatt gccaatgctc accgtaagcc tttggtcata atcgctgaag atgttgatgg
      901 agaagctcta agtacactcg tcttgaatag gctaaaggtt ggtcttcagg ttgtggcagt
      961 caaggctcca gggtttggtg acaatagaaa gaaccagctt aaagatatgg ctattgctac
     1021 tggtggtgca gtgtttggag aagagggatt gaccctgaat cttgaagacg ttcagcctca
     1081 tgacttagga aaagttggag aggtcattgt gaccaaagac gatgccatgc tcttaaaagg
     1141 aaaaggtgac aaggctcaaa ttgaaaaacg tattcaagaa atcattgagc agttagatgt
     1201 cacaactagt gaatatgaaa aggaaaaact gaatgaacgg cttgcaaaac tttcagatgg
     1261 agtggctgtg ctgaaggttg gtgggacaag tgatgttgaa gtgaatgaaa agaaagacag
     1321 agttacagat gcccttaatg ctacaagagc tgctgttgaa gaaggcattg ttttgggagg
     1381 gggttgtgcc ctccttcgat gcattccagc cttggactca ttgactccag ctaatgaaga
     1441 tcaaaaaatt ggtatagaaa ttattaaaag aacactcaaa attccagcaa tgaccattgc
     1501 taagaatgca ggtgttgaag gatctttgat agttgagaaa attatgcaaa gttcctcaga
     1561 agttggttat gatgctatgg ctggagattt tgtgaatatg gtggaaaaag gaatcattga
     1621 cccaacaaag gttgtgagaa ctgctttatt ggatgctgct ggtgtggcct ctctgttaac
     1681 tacagcagaa gttgtagtca cagaaattcc taaagaagag aaggaccctg gaatgggtgc
     1741 aatgggtgga atgggaggtg gtatgggagg tggcatgttc taactcctag actagtgctt
     1801 tacctttatt aatgaactgt gacaggaagc ccaaggcagt gttcctcacc aataacttca
     1861 gagaagtcag ttggagaaaa tgaagaaaaa ggctggctga aaatcactat aaccatcagt
     1921 tactggtttc agttgacaaa atatataatg gtttactgct gtcattgtcc atgcctacag
     1981 ataatttatt ttgtattttt gaataaaaaa catttgtaca ttcctgatac tgggtacaag
     2041 agccatgtac cagtgtactg ctttcaactt aaatcactga ggcattttta ctactattct
     2101 gttaaaatca ggattttagt gcttgccacc accagatgag aagttaagca gcctttctgt
     2161 ggagagtgag aataattgtg tacaaagtag agaagtatcc aattatgtga caacctttgt
     2221 gtaataaaaa tttgtttaaa gttaa
//
