LOCUS       NM_001098810            2949 bp    mRNA    linear   ROD 06-JUN-2024
DEFINITION  Mus musculus peptidyl-tRNA hydrolase 2 (Ptrh2), transcript variant
            2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001098810
VERSION     NM_001098810.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2949)
  AUTHORS   Picker-Minh,S., Luperi,I., Ravindran,E., Kraemer,N., Zaqout,S.,
            Stoltenburg-Didinger,G., Ninnemann,O., Hernandez-Miranda,L.R.,
            Mani,S. and Kaindl,A.M.
  TITLE     PTRH2 is Necessary for Purkinje Cell Differentiation and Survival
            and its Loss Recapitulates Progressive Cerebellar Atrophy and
            Ataxia Seen in IMNEPD Patients
  JOURNAL   Cerebellum 22 (6), 1137-1151 (2023)
   PUBMED   36219306
  REMARK    GeneRIF: PTRH2 is Necessary for Purkinje Cell Differentiation and
            Survival and its Loss Recapitulates Progressive Cerebellar Atrophy
            and Ataxia Seen in IMNEPD Patients.
REFERENCE   2  (bases 1 to 2949)
  AUTHORS   Doe,J., Kaindl,A.M., Jijiwa,M., de la Vega,M., Hu,H.,
            Griffiths,G.S., Fontelonga,T.M., Barraza,P., Cruz,V., Van Ry,P.,
            Ramos,J.W., Burkin,D.J. and Matter,M.L.
  TITLE     PTRH2 gene mutation causes progressive congenital skeletal muscle
            pathology
  JOURNAL   Hum Mol Genet 26 (8), 1458-1464 (2017)
   PUBMED   28175314
  REMARK    GeneRIF: Ptrh2 levels were up-regulated in dystrophin deficient mdx
            muscle, which correlates with the elevated levels of the a7b1
            integrin observed in mdx muscle and Duchenne muscular dystrophy
            patients. Similar to the a7 integrin, Ptrh2 expression was
            decreased in laminin-a2 null gastrocnemius muscle
REFERENCE   3  (bases 1 to 2949)
  AUTHORS   Griffiths,G.S., Doe,J., Jijiwa,M., Van Ry,P., Cruz,V., de la
            Vega,M., Ramos,J.W., Burkin,D.J. and Matter,M.L.
  TITLE     Bit-1 is an essential regulator of myogenic differentiation
  JOURNAL   J Cell Sci 128 (9), 1707-1717 (2015)
   PUBMED   25770104
  REMARK    GeneRIF: These results support an unanticipated yet essential role
            for Bit-1 in controlling myogenesis through regulation of Bcl-2.
REFERENCE   4  (bases 1 to 2949)
  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 2949)
  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 2949)
  AUTHORS   Karmali,P.P., Brunquell,C., Tram,H., Ireland,S.K., Ruoslahti,E. and
            Biliran,H.
  TITLE     Metastasis of tumor cells is enhanced by downregulation of Bit1
  JOURNAL   PLoS One 6 (8), e23840 (2011)
   PUBMED   21886829
  REMARK    GeneRIF: downregulation of Bit1 specifically potentiated tumor
            metastasis in vivo
REFERENCE   7  (bases 1 to 2949)
  AUTHORS   Yi,P., Nguyen,D.T., Higa-Nishiyama,A., Auguste,P.,
            Bouchecareilh,M., Dominguez,M., Bielmann,R., Palcy,S., Liu,J.F. and
            Chevet,E.
  TITLE     MAPK scaffolding by BIT1 in the Golgi complex modulates stress
            resistance
  JOURNAL   J Cell Sci 123 (Pt 7), 1060-1072 (2010)
   PUBMED   20197408
REFERENCE   8  (bases 1 to 2949)
  AUTHORS   Kairouz-Wahbe,R., Biliran,H., Luo,X., Khor,I., Wankell,M.,
            Besch-Williford,C., Pascual,J., Oshima,R. and Ruoslahti,E.
  TITLE     Anoikis effector Bit1 negatively regulates Erk activity
  JOURNAL   Proc Natl Acad Sci U S A 105 (5), 1528-1532 (2008)
   PUBMED   18218778
  REMARK    GeneRIF: These studies establish the physiological significance of
            Bit1 activity and begin to delineate a Bit1 signaling pathway that
            acts through Erk regulation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AA271949.1, AK031620.1 and AK038888.1.
            
            On Jul 6, 2018 this sequence version replaced NM_001098810.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK031620.1, AK038888.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AA271949.1         1-7
            8-682               AK031620.1         3-677
            683-2815            AK038888.1         722-2854
            2816-2949           AK031620.1         2811-2944
FEATURES             Location/Qualifiers
     source          1..2949
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 51.82 cM"
     gene            1..2949
                     /gene="Ptrh2"
                     /gene_synonym="A230072I16Rik; Bit1; CGI-147; PTH 2"
                     /note="peptidyl-tRNA hydrolase 2"
                     /db_xref="GeneID:217057"
                     /db_xref="MGI:MGI:2444848"
     exon            1..50
                     /gene="Ptrh2"
                     /gene_synonym="A230072I16Rik; Bit1; CGI-147; PTH 2"
                     /inference="alignment:Splign:2.1.0"
     exon            51..2949
                     /gene="Ptrh2"
                     /gene_synonym="A230072I16Rik; Bit1; CGI-147; PTH 2"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..596
                     /gene="Ptrh2"
                     /gene_synonym="A230072I16Rik; Bit1; CGI-147; PTH 2"
                     /EC_number="3.1.1.29"
                     /note="isoform b is encoded by transcript variant 2;
                     peptidyl-tRNA hydrolase 2, mitochondrial"
                     /codon_start=1
                     /product="peptidyl-tRNA hydrolase 2, mitochondrial isoform
                     b"
                     /protein_id="NP_001092280.1"
                     /db_xref="CCDS:CCDS48876.1"
                     /db_xref="GeneID:217057"
                     /db_xref="MGI:MGI:2444848"
                     /translation="MLSKFLTMEYLVHPGTLSLAAGVACGMCLGWGLRSHLGMFPQNS
                     TSEANRDTETGTEASILGESGEYKMILVVRTDLKMGKGKVAAQCSHAAVSAYKQTQRR
                     SPQVLKEWEYCGQPKVVVKAPDEDTLIQLLTHAKTLGLTVSLIQDAGRTQIEPGSRTV
                     LGIGPGPVELIDEVTGHLKLY"
     regulatory      652..657
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ptrh2"
                     /gene_synonym="A230072I16Rik; Bit1; CGI-147; PTH 2"
                     /note="hexamer: AATAAA"
     polyA_site      682
                     /gene="Ptrh2"
                     /gene_synonym="A230072I16Rik; Bit1; CGI-147; PTH 2"
                     /note="major polyA site"
     regulatory      2785..2790
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ptrh2"
                     /gene_synonym="A230072I16Rik; Bit1; CGI-147; PTH 2"
                     /note="hexamer: AATAAA"
     regulatory      2796..2801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ptrh2"
                     /gene_synonym="A230072I16Rik; Bit1; CGI-147; PTH 2"
                     /note="hexamer: ATTAAA"
     polyA_site      2805
                     /gene="Ptrh2"
                     /gene_synonym="A230072I16Rik; Bit1; CGI-147; PTH 2"
     polyA_site      2819
                     /gene="Ptrh2"
                     /gene_synonym="A230072I16Rik; Bit1; CGI-147; PTH 2"
ORIGIN      
        1 gttccttgtt ctggcttgga gacctgcgag gtgagcgaga cgagctccag atgctctcca
       61 agttcttgac tatggagtat ttggttcatc ctggtacact cagcttggct gctggagttg
      121 cttgtggcat gtgcctgggc tggggcctcc ggagccacct tgggatgttc ccccagaact
      181 caacaagtga ggcaaataga gacacagaga ctggaactga agcaagcatc ttgggagaga
      241 gtggggaata caaaatgatt cttgtggttc gaactgacct taaaatgggg aaagggaagg
      301 ttgctgccca gtgttctcat gctgccgtgt ctgcctacaa gcagactcaa aggagaagcc
      361 ctcaagtgct caaagagtgg gagtactgtg gccagcccaa agtggtggtc aaagctccag
      421 atgaagacac cctcattcaa ttactcaccc atgcaaaaac cttgggactg actgtaagtt
      481 taatccaaga tgctggacgt actcagattg aaccaggttc tcgaactgtc ctgggaattg
      541 ggccaggacc agtagaacta attgatgaag ttactggcca cctaaaactt tactagataa
      601 gcttttgctt gatggagatt ctgtccgaag actatggagc ctgtcagtaa caataaatgc
      661 ttaattcttg tcccacttta aagtctgttc ccatgttcct ctatcatgta ctagaccatt
      721 aatatcttga gcttaaaata ctattgaagg ggtagagaga ttcctcagtg attaagggca
      781 cttgttcctc ttgcaaagga tgctggttca gtttctagta tctggatctc agtttacaag
      841 catccagatc cagttccagg gaatccaaca ccctctcaac cacaaggtat acacagtata
      901 catatataca cgcaggcaag tcctcaaaca tccaaagagt acataaagaa aaaggaagtc
      961 tcaagaataa aaatacattc tctaaatgct cctgtggagt gatagggtct caaacagatt
     1021 ggaagtgaga cagtgcctgt aatgacgctg ggtgagaagg aggctgcgtt tcccaggtac
     1081 agttaggccc ctgtgtgttg attactcttt tctcaaacca tgctgttgtc ctttgccttt
     1141 ttgaggatct ggttcaagaa atcatattgt aatttttttc tgctgctact ttttgaatgg
     1201 ctgttaacct ctttttatta ttaacagatc attgcataga ctcactgcaa ttttgattta
     1261 gatattaact agctggactt tttgaggtgg tctcatactg tagctcaggc taatctttaa
     1321 cttgtggaaa tcctcctgcc ttgacctccc acctgggagg gatggaagtt atgaaccatc
     1381 atacccagct actctctaaa ttcatttcta tttcaaagtt gaaattttat gatctatgta
     1441 gcattttgtt gtttatttct ccagatccac ctgggctaag gtatttcaca gctgttctaa
     1501 ttcataaact gaaaattcct ctactttaac agtgagacct gtgagtttgt gaagtgataa
     1561 ggatttacaa agtgtaaatg tgagaattta tgggaactaa aggactgtaa ctgtacccag
     1621 ccagtttctc ctagaaattt caggacctaa ataattttat tattttaggg cactttttct
     1681 ccccgtatcc ctgagcctgg aactcactat ggaacaggct gatctaaact cagaggtcct
     1741 cctacctctg cctcccagtg ctgggattaa aaacatgcac tagcatgcct gcctacataa
     1801 agctttcttg acagtttgct agaattcatt tttcttgata gttctaaaag attgacagtg
     1861 atttccaagt tccttatatc ctttaaaact ataaatgatg ttaaggaaag taagaccgta
     1921 agtaggaact aagcagaatg atgaagacaa ctgtaggcag tctccaagtt aaagtgctta
     1981 gtgcattttt atcctacgga agcataaatg gtacaggacc aatcgcaaca ctgaatgatg
     2041 ccacagtagc aacagtttct agacagaatg tttatacatg agtcaagtga tgcaaccaca
     2101 tgtaactgag tagaactcaa tcttaaatac atggttatga ctcaggtaat ttatgaggct
     2161 tgctgcagac aaatggttcc acactaaaag actagattcc cagctggggt ggctgattca
     2221 atgacctgta acaagctggg ccttacaagg acatagtaaa acttgttaat tctggtgaca
     2281 agtcacggta tttttctggt tcacctgctc ttggtatata cttcatagga ctttcagagt
     2341 agttctcaga gcatactctg cagagcacaa gagtttgcta cctacctgtt ttcactagct
     2401 taaatgaaag ggattcccgg ttctagtgtg ttcctgctga tggtccacat gaacaaggaa
     2461 ccatcagatt cctcagccca cattcacaat aaagtctcac ttggcctgat gaagcagtta
     2521 aaaagagcag tatttttttt tccccagcgt aggtagggga agggctttgg gaactgaaag
     2581 ctgggcaata agaagtcttt agggaagtcc tccttggtag gtggcccatg ctcctgtaga
     2641 tggccccaca tgctttcaaa cagtgtcagc attgattgaa ctcagtgcac tgttatgaaa
     2701 gagatcaacc tgagagggag atgcgtaagg gttggggtgc taggctcata tagtacactg
     2761 tatacttgta tgaaaatttc agcaaataaa aaatgattaa aaacattttt tactcatgac
     2821 tatttgtgtt catatctttg tctaaagggc tgttgtctag tttgtgagct cagctaactt
     2881 catagaacat ttttactgaa acaagaggct ggagagatgg ctctgcaatt aaaatcttac
     2941 acaaaatcc
//
