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    PTRH1 peptidyl-tRNA hydrolase 1 homolog [ Homo sapiens (human) ]

    Gene ID: 138428, updated on 27-Nov-2024

    Summary

    Official Symbol
    PTRH1provided by HGNC
    Official Full Name
    peptidyl-tRNA hydrolase 1 homologprovided by HGNC
    Primary source
    HGNC:HGNC:27039
    See related
    Ensembl:ENSG00000187024 AllianceGenome:HGNC:27039
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PTH1; C9orf115
    Summary
    Enables aminoacyl-tRNA hydrolase activity. Involved in rescue of stalled ribosome. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in kidney (RPKM 2.9), testis (RPKM 2.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PTRH1 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127694150..127715676, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (139901102..139922631, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130475942..130477955, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130360792-130361311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130370589-130371088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20307 Neighboring gene syntaxin binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130395219-130396018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29044 Neighboring gene VISTA enhancer hs2342 Neighboring gene OCT4 hESC enhancer GRCh37_chr9:130463106-130463614 Neighboring gene microRNA 3911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130476687-130477343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29047 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:130478240-130478416 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:130480462-130480664 Neighboring gene cilia and flagella associated protein 157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130488893-130489394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130496147-130497053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20308 Neighboring gene tetratricopeptide repeat domain 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130504225-130504852 Neighboring gene torsin family 2 member A Neighboring gene SH2 domain containing 3C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130523547-130524424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130524425-130525300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130526508-130527090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20309 Neighboring gene uncharacterized LOC107987132 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:130539526-130539796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29049

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    peptidyl-tRNA hydrolase
    Names
    PTH
    probable peptidyl-tRNA hydrolase
    NP_001002913.1
    NP_001332906.1
    NP_001332907.1
    NP_001332908.1
    NP_001332909.1
    XP_047278730.1
    XP_047278731.1
    XP_054217962.1
    XP_054217963.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001002913.3NP_001002913.1  peptidyl-tRNA hydrolase isoform 1

      See identical proteins and their annotated locations for NP_001002913.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC047012, BQ045289, DB141384
      Consensus CDS
      CCDS35147.1
      UniProtKB/Swiss-Prot
      Q86Y79
      Related
      ENSP00000439469.1, ENST00000543175.5
      Conserved Domains (1) summary
      cd00462
      Location:32203
      PTH; Peptidyl-tRNA hydrolase (PTH) is a monomeric protein that cleaves the ester bond linking the nascent peptide and tRNA when peptidyl-tRNA is released prematurely from the ribosome. This ensures the recycling of peptidyl-tRNAs into tRNAs produced through ...
    2. NM_001345977.1NP_001332906.1  peptidyl-tRNA hydrolase isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AV709373, BC015230, BQ045289, DB141384
      UniProtKB/TrEMBL
      A0A096LP22
      Related
      ENSP00000485347.1, ENST00000456267.5
    3. NM_001345978.1NP_001332907.1  peptidyl-tRNA hydrolase isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL162426
      Consensus CDS
      CCDS87693.1
      UniProtKB/TrEMBL
      A0A096LPA3, C9J7Z1
      Related
      ENSP00000418219.1, ENST00000423807.5
    4. NM_001345979.1NP_001332908.1  peptidyl-tRNA hydrolase isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC015230, BM691270, BQ045289, DB141384
      UniProtKB/TrEMBL
      A0A096LPA3
      Related
      ENSP00000485479.1, ENST00000414832.2
    5. NM_001345980.1NP_001332909.1  peptidyl-tRNA hydrolase isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two alternate coding exons compared to variant 1, that causes a frameshift. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC015230, BE295757, BQ045289, DB141384

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      127694150..127715676 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422774.1XP_047278730.1  peptidyl-tRNA hydrolase isoform X1

    2. XM_047422775.1XP_047278731.1  peptidyl-tRNA hydrolase isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      139901102..139922631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361987.1XP_054217962.1  peptidyl-tRNA hydrolase isoform X1

    2. XM_054361988.1XP_054217963.1  peptidyl-tRNA hydrolase isoform X2