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2025-05-09 19:03:36, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_016077 804 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), mRNA.
ACCESSION NM_016077
VERSION NM_016077.3 GI:62865877
KEYWORDS RefSeq.
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 804)
AUTHORS Chen,R., Braun,G.B., Luo,X., Sugahara,K.N., Teesalu,T. and
Ruoslahti,E.
TITLE Application of a proapoptotic peptide to intratumorally spreading
cancer therapy
JOURNAL Cancer Res. 73 (4), 1352-1361 (2013)
PUBMED 23248118
REMARK GeneRIF: Data indicate that the cell death domain (CDD) to the
N-terminal 62 amino acids of Bit1 was more potent in killing cells
than the full-length Bit1 protein when equivalent amounts of cDNA
were transfected.
REFERENCE 2 (bases 1 to 804)
AUTHORS Hua,W., Miao,S., Zou,W., Yang,H. and Chen,B.L.
TITLE Pathological implication and function of Bcl2-inhibitor of
transcription in ovarian serous papillary adenocarcinomas
JOURNAL Neoplasma 60 (2), 143-150 (2013)
PUBMED 23259782
REMARK GeneRIF: Bit1 may be a useful pathological marker and a prognostic
marker for serous papillary adenocarcinomas outcome.
REFERENCE 3 (bases 1 to 804)
AUTHORS Brunquell,C., Biliran,H., Jennings,S., Ireland,S.K., Chen,R. and
Ruoslahti,E.
TITLE TLE1 is an anoikis regulator and is downregulated by Bit1 in breast
cancer cells
JOURNAL Mol. Cancer Res. 10 (11), 1482-1495 (2012)
PUBMED 22952044
REMARK GeneRIF: TLE1 inhibits the Bit1 anoikis pathway by reducing the
formation of the proapoptotic Bit1-AES complex in part through
sequestration of AES in the nucleus.
REFERENCE 4 (bases 1 to 804)
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 5 (bases 1 to 804)
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 conferred cancer cells with
enhanced anoikis resistance, adhesive and migratory properties in
vitro
REFERENCE 6 (bases 1 to 804)
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 804)
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 804)
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 804)
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 804)
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 VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AF151905.1.
On Apr 22, 2005 this sequence version replaced gi:56676387.
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 :: AF151905.1, BU858401.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-28 AF151905.1 1-28
29-80 AF151905.1 30-81
81-804 AF151905.1 83-806
FEATURES Location/Qualifiers
source 1..804
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q23.1"
gene 1..804
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/note="peptidyl-tRNA hydrolase 2"
/db_xref="GeneID:51651"
/db_xref="HGNC:24265"
/db_xref="HPRD:12273"
/db_xref="MIM:608625"
exon 1..125
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/inference="alignment:Splign:1.39.8"
misc_feature 123..125
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/note="upstream in-frame stop codon"
exon 126..798
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/inference="alignment:Splign:1.39.8"
CDS 126..665
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/EC_number="3.1.1.29"
/note="peptidyl-tRNA hydrolase 2, mitochondrial; PTH 2;
bcl-2 inhibitor of transcription 1"
/codon_start=1
/product="peptidyl-tRNA hydrolase 2, mitochondrial
precursor"
/protein_id="NP_057161.1"
/db_xref="GI:7706351"
/db_xref="CCDS:CCDS11618.1"
/db_xref="GeneID:51651"
/db_xref="HGNC:24265"
/db_xref="HPRD:12273"
/db_xref="MIM:608625"
/translation="
MPSKSLVMEYLAHPSTLGLAVGVACGMCLGWSLRVCFGMLPKSKTSKTHTDTESEASILGDSGEYKMILVVRNDLKMGKGKVAAQCSHAAVSAYKQIQRRNPEMLKQWEYCGQPKVVVKAPDEETLIALLAHAKMLGLTVSLIQDAGRTQIAPGSQTVLGIGPGPADLIDKVTGHLKLY
"
transit_peptide 126..311
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/inference="non-experimental evidence, no additional
details recorded"
/note="Mitochondrion (Potential); propagated from
UniProtKB/Swiss-Prot (Q9Y3E5.1)"
misc_feature 294..296
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9Y3E5.1); phosphorylation site"
mat_peptide 312..662
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/product="Peptidyl-tRNA hydrolase 2, mitochondrial"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y3E5.1)"
misc_feature 315..662
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/note="Peptidyl-tRNA hydrolase PTH2; Region: PTH2;
pfam01981"
/db_xref="CDD:190182"
misc_feature 318..662
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/note="Peptidyl-tRNA hydrolase, type 2 (PTH2).
Peptidyl-tRNA hydrolase (PTH) activity releases tRNA from
the premature translation termination product
peptidyl-tRNA, therefore allowing the tRNA and peptide to
be reused in protein synthesis. PTH2 is present in...;
Region: PTH2; cd02430"
/db_xref="CDD:48405"
misc_feature order(360..362,381..389,396..398,405..410,417..419,
450..452,468..470,660..662)
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/note="dimer interface [polypeptide binding]; other site"
/db_xref="CDD:48405"
misc_feature order(366..368,378..380,387..389,468..470,594..596)
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/note="putative active site [active]"
/db_xref="CDD:48405"
variation 165
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:11547273"
STS 375..537
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/standard_name="RH93739"
/db_xref="UniSTS:89968"
STS 397..694
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/standard_name="WI-20523"
/db_xref="UniSTS:52060"
STS 566..707
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
/standard_name="D17S2149"
/db_xref="UniSTS:860"
polyA_signal 775..780
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
polyA_site 798
/gene="PTRH2"
/gene_synonym="BIT1; CGI-147; PTH2"
ORIGIN
tcgctttgtgattcttgatccggaacttgtcacccaggaaccccggaagaggtagctcacgcgatagaaacgtgttcgctgcccagaagaagggaaggcgcgagtgaggaaaggaggtactgtagatgccctccaaatccttggttatggaatatttggctcatcccagtacactcggcttggctgttggagttgcttgtggcatgtgcctgggctggagccttcgagtatgctttgggatgctccccaaaagcaagacgagcaagacacacacagatactgaaagtgaagcaagcatcttgggagacagcggggagtacaagatgattcttgtggttcgaaatgacttaaagatgggaaaagggaaagtggctgcccagtgctctcatgctgctgtttcagcctacaagcagattcaaagaagaaatcctgaaatgctcaaacaatgggaatactgtggccagcccaaggtggtggtcaaagctcctgatgaagaaaccctgattgcattattggcccatgcaaaaatgctgggactgactgtaagtttaattcaagatgctggacgtactcagattgcaccaggctctcaaactgtcctagggattgggccaggaccagcagacctaattgacaaagtcactggtcacctaaaactttactaggtggactttgatatgacaacaacccctccatcacaagtgtttgaagcctgtcagattctaacaacaaaagctgaatttcttcacccaacttaaatgttcttgagatgaaaataaaacctattcccatgttctaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:51651 -> Molecular function: GO:0004045 [aminoacyl-tRNA hydrolase activity] evidence: IEA
GeneID:51651 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:51651 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:51651 -> Biological process: GO:0010629 [negative regulation of gene expression] evidence: IMP
GeneID:51651 -> Biological process: GO:2000210 [positive regulation of anoikis] evidence: IMP
GeneID:51651 -> Biological process: GO:2000811 [negative regulation of anoikis] evidence: IMP
GeneID:51651 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA
GeneID:51651 -> Cellular component: GO:0005739 [mitochondrion] evidence: IMP
GeneID:51651 -> Cellular component: GO:0005829 [cytosol] evidence: IMP
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_057161 -> EC 3.1.1.29
by
@meso_cacase at
DBCLS
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