LOCUS       NM_016077                731 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), transcript variant
            2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016077
VERSION     NM_016077.5
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 731)
  AUTHORS   Sharkia,R., Jain,S., Mahajnah,M., Habib,C., Azem,A., Al-Shareef,W.
            and Zalan,A.
  TITLE     PTRH2 Gene Variants: Recent Review of the Phenotypic Features and
            Their Bioinformatics Analysis
  JOURNAL   Genes (Basel) 14 (5), 1031 (2023)
   PUBMED   37239392
  REMARK    GeneRIF: PTRH2 Gene Variants: Recent Review of the Phenotypic
            Features and Their Bioinformatics Analysis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 731)
  AUTHORS   Ma,B., Ni,N., Shao,W., Xu,J., Ji,J. and Luo,M.
  TITLE     Bit1 is involved in regulation between integrin and TGFbeta
            signaling in lens epithelial cells
  JOURNAL   Cell Cycle 21 (21), 2283-2297 (2022)
   PUBMED   35737738
  REMARK    GeneRIF: Bit1 is involved in regulation between integrin and
            TGFbeta signaling in lens epithelial cells.
REFERENCE   3  (bases 1 to 731)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 731)
  AUTHORS   Hu,H., Matter,M.L., Issa-Jahns,L., Jijiwa,M., Kraemer,N.,
            Musante,L., de la Vega,M., Ninnemann,O., Schindler,D., Damatova,N.,
            Eirich,K., Sifringer,M., Schrotter,S., Eickholt,B.J., van den
            Heuvel,L., Casamina,C., Stoltenburg-Didinger,G., Ropers,H.H.,
            Wienker,T.F., Hubner,C. and Kaindl,A.M.
  TITLE     Mutations in PTRH2 cause novel infantile-onset multisystem disease
            with intellectual disability, microcephaly, progressive ataxia, and
            muscle weakness
  JOURNAL   Ann Clin Transl Neurol 1 (12), 1024-1035 (2014)
   PUBMED   25574476
REFERENCE   5  (bases 1 to 731)
  AUTHORS   Griffiths,G.S., Grundl,M., Leychenko,A., Reiter,S.,
            Young-Robbins,S.S., Sulzmaier,F.J., Caliva,M.J., Ramos,J.W. and
            Matter,M.L.
  TITLE     Bit-1 mediates integrin-dependent cell survival through activation
            of the NFkappaB pathway
  JOURNAL   J Biol Chem 286 (16), 14713-14723 (2011)
   PUBMED   21383007
  REMARK    GeneRIF: Bit-1 mediates integrin-dependent cell survival through
            activation of the NFkappaB pathway
REFERENCE   6  (bases 1 to 731)
  AUTHORS   Fan,T., Jiang,G., Suo,Z., Liu,H., Xu,P., Ji,Z., Zhang,L. and
            Yang,G.
  TITLE     Down-regulation of the apoptosis-inducing factor or Bcl-2 inhibitor
            of transcription by RNA interference can alleviate
            TAp63gamma-induced apoptosis in esophageal squamous carcinoma
            EC9706 cells
  JOURNAL   Int J Oncol 35 (2), 359-367 (2009)
   PUBMED   19578750
  REMARK    GeneRIF: TAp63gamma could induce apoptosis in human esophageal
            squamous cancer EC9706 cells, through at least releasing AIF and
            Bit1 from mitochindria into cytosol and nucleus, where apoptotic
            cascade takes place.
REFERENCE   7  (bases 1 to 731)
  AUTHORS   Biliran,H., Jan,Y., Chen,R., Pasquale,E.B. and Ruoslahti,E.
  TITLE     Protein kinase D is a positive regulator of Bit1 apoptotic function
  JOURNAL   J Biol Chem 283 (42), 28029-28037 (2008)
   PUBMED   18703509
  REMARK    GeneRIF: the PKD serine/threonine kinase is one of the signaling
            molecules through which integrin-mediated cell attachment controls
            Bit1 activity and anoikis
            Erratum:[J Biol Chem. 2011 Mar 4;286(9):7714]
REFERENCE   8  (bases 1 to 731)
  AUTHORS   Bouchentouf,M., Benabdallah,B.F., Rousseau,J., Schwartz,L.M. and
            Tremblay,J.P.
  TITLE     Induction of Anoikis following myoblast transplantation into SCID
            mouse muscles requires the Bit1 and FADD pathways
  JOURNAL   Am J Transplant 7 (6), 1491-1505 (2007)
   PUBMED   17511679
  REMARK    GeneRIF: Reduced expression of the proapoptotic proteins Bit1 or
            overexpression of Bcl-2 improved myoblast transplantation survival.
REFERENCE   9  (bases 1 to 731)
  AUTHORS   Jan,Y., Matter,M., Pai,J.T., Chen,Y.L., Pilch,J., Komatsu,M.,
            Ong,E., Fukuda,M. and Ruoslahti,E.
  TITLE     A mitochondrial protein, Bit1, mediates apoptosis regulated by
            integrins and Groucho/TLE corepressors
  JOURNAL   Cell 116 (5), 751-762 (2004)
   PUBMED   15006356
  REMARK    GeneRIF: Results identify Bit1, a mitochondrial protein released
            into the cytoplasm during apoptosis that forms a complex with AES,
            a small Groucho/transducin-like enhancer of split (TLE) protein
            Erratum:[Cell. 2005 Aug 12;122(3):485-6]
REFERENCE   10 (bases 1 to 731)
  AUTHORS   De Pereda,J.M., Waas,W.F., Jan,Y., Ruoslahti,E., Schimmel,P. and
            Pascual,J.
  TITLE     Crystal structure of a human peptidyl-tRNA hydrolase reveals a new
            fold and suggests basis for a bifunctional activity
  JOURNAL   J Biol Chem 279 (9), 8111-8115 (2004)
   PUBMED   14660562
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA092491.1 and AF151905.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_016077.4.
            
            Summary: The protein encoded by this gene is a mitochondrial
            protein with two putative domains, an N-terminal mitochondrial
            localization sequence, and a UPF0099 domain. In vitro assays
            suggest that this protein possesses peptidyl-tRNA hydrolase
            activity, to release the peptidyl moiety from tRNA, thereby
            preventing the accumulation of dissociated peptidyl-tRNA that could
            reduce the efficiency of translation. This protein also plays a
            role regulating cell survival and death. It promotes survival as
            part of an integrin-signaling pathway for cells attached to the
            extracellular matrix (ECM), but also promotes apoptosis in cells
            that have lost their attachment to the ECM, a process called
            anoikos. After loss of cell attachment to the ECM, this protein is
            phosphorylated, is released from the mitochondria into the cytosol,
            and promotes caspase-independent apoptosis through interactions
            with transcriptional regulators. This gene has been implicated in
            the development and progression of tumors, and mutations in this
            gene have been associated with an infantile multisystem neurologic,
            endocrine, and pancreatic disease (INMEPD) characterized by
            intellectual disability, postnatal microcephaly, progressive
            cerebellar atrophy, hearing impairment, polyneuropathy, failure to
            thrive, and organ fibrosis with exocrine pancreas insufficiency
            (PMID: 25574476). Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Mar 2015].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR and uses a downstream start codon compared to variant 1. It
            encodes isoform b which is one amino acid shorter at the N-terminus
            compared to 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 :: BC006807.1, BF213547.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590, SAMN03568912
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000393038.3/
                                                  ENSP00000376758.2
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-300               DA092491.1         169-468
            301-731             AF151905.1         368-798
FEATURES             Location/Qualifiers
     source          1..731
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.1"
     gene            1..731
                     /gene="PTRH2"
                     /gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
                     PTH2"
                     /note="peptidyl-tRNA hydrolase 2"
                     /db_xref="GeneID:51651"
                     /db_xref="HGNC:HGNC:24265"
                     /db_xref="MIM:608625"
     exon            1..60
                     /gene="PTRH2"
                     /gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
                     PTH2"
                     /inference="alignment:Splign:2.1.0"
     exon            61..731
                     /gene="PTRH2"
                     /gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
                     PTH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..600
                     /gene="PTRH2"
                     /gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
                     PTH2"
                     /EC_number="3.1.1.29"
                     /note="isoform b precursor is encoded by transcript
                     variant 2; peptidyl-tRNA hydrolase 2, mitochondrial; bcl-2
                     inhibitor of transcription 1; cilia and flagella
                     associated protein 37"
                     /codon_start=1
                     /product="peptidyl-tRNA hydrolase 2, mitochondrial isoform
                     b precursor"
                     /protein_id="NP_057161.1"
                     /db_xref="CCDS:CCDS11618.1"
                     /db_xref="GeneID:51651"
                     /db_xref="HGNC:HGNC:24265"
                     /db_xref="MIM:608625"
                     /translation="MPSKSLVMEYLAHPSTLGLAVGVACGMCLGWSLRVCFGMLPKSK
                     TSKTHTDTESEASILGDSGEYKMILVVRNDLKMGKGKVAAQCSHAAVSAYKQIQRRNP
                     EMLKQWEYCGQPKVVVKAPDEETLIALLAHAKMLGLTVSLIQDAGRTQIAPGSQTVLG
                     IGPGPADLIDKVTGHLKLY"
     regulatory      710..715
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTRH2"
                     /gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
                     PTH2"
                     /note="hexamer: AATAAA"
     polyA_site      731
                     /gene="PTRH2"
                     /gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
                     PTH2"
                     /note="major polyA site"
ORIGIN      
        1 agaaacgtgt tcgctgccca gaagaaggga aggcgcgagt gaggaaagga ggtactgtag
       61 atgccctcca aatccttggt tatggaatat ttggctcatc ccagtacact cggcttggct
      121 gttggagttg cttgtggcat gtgcctgggc tggagccttc gagtatgctt tgggatgctc
      181 cccaaaagca agacgagcaa gacacacaca gatactgaaa gtgaagcaag catcttggga
      241 gacagcgggg agtacaagat gattcttgtg gttcgaaatg acttaaagat gggaaaaggg
      301 aaagtggctg cccagtgctc tcatgctgct gtttcagcct acaagcagat tcaaagaaga
      361 aatcctgaaa tgctcaaaca atgggaatac tgtggccagc ccaaggtggt ggtcaaagct
      421 cctgatgaag aaaccctgat tgcattattg gcccatgcaa aaatgctggg actgactgta
      481 agtttaattc aagatgctgg acgtactcag attgcaccag gctctcaaac tgtcctaggg
      541 attgggccag gaccagcaga cctaattgac aaagtcactg gtcacctaaa actttactag
      601 gtggactttg atatgacaac aacccctcca tcacaagtgt ttgaagcctg tcagattcta
      661 acaacaaaag ctgaatttct tcacccaact taaatgttct tgagatgaaa ataaaaccta
      721 ttcccatgtt c
//
