Details for: PUS7

Gene ID: 54517

Symbol: PUS7

Ensembl ID: ENSG00000091127

Description: pseudouridine synthase 7

Associated with

Other Information

Genular Protein ID: 3363652799

Symbol: PUS7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11572484

Title: Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.

PubMed ID: 11572484

DOI: 10.1093/dnares/8.4.179

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 28073919

Title: TRUB1 is the predominant pseudouridine synthase acting on mammalian mRNA via a predictable and conserved code.

PubMed ID: 28073919

DOI: 10.1101/gr.207613.116

PubMed ID: 29628141

Title: Pseudouridylation of tRNA-derived fragments steers translational control in stem cells.

PubMed ID: 29628141

DOI: 10.1016/j.cell.2018.03.008

PubMed ID: 30526862

Title: Variants in PUS7 cause intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior.

PubMed ID: 30526862

DOI: 10.1016/j.ajhg.2018.10.026

PubMed ID: 31451225

Title: Biochemical insight into pseudouridine synthase 7 (PUS7) as a novel interactor of sirtuin, SIRT1.

PubMed ID: 31451225

DOI: 10.1016/j.bbrc.2019.08.097

PubMed ID: 30778726

Title: PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

PubMed ID: 30778726

DOI: 10.1007/s00439-019-01980-3

PubMed ID: 31477916

Title: mRNA structure determines modification by pseudouridine synthase 1.

PubMed ID: 31477916

DOI: 10.1038/s41589-019-0353-z

PubMed ID: 31583274

Title: A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors.

PubMed ID: 31583274

DOI: 10.1212/nxg.0000000000000356

PubMed ID: 33100873

Title: Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly.

PubMed ID: 33100873

DOI: 10.1016/j.sjbs.2020.09.033

PubMed ID: 35051350

Title: Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing.

PubMed ID: 35051350

DOI: 10.1016/j.molcel.2021.12.023

PubMed ID: 35144859

Title: PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.

PubMed ID: 35144859

DOI: 10.1016/j.ymgme.2022.01.103

PubMed ID: 34718722

Title: The human pseudouridine synthase PUS7 recognizes RNA with an extended multi-domain binding surface.

PubMed ID: 34718722

DOI: 10.1093/nar/gkab934

Sequence Information:

  • Length: 661
  • Mass: 75035
  • Checksum: 6F6A05A9B57B1560
  • Sequence:
  • MEMTEMTGVS LKRGALVVED NDSGVPVEET KKQKLSECSL TKGQDGLQND FLSISEDVPR 
    PPDTVSTGKG GKNSEAQLED EEEEEEDGLS EECEEEESES FADMMKHGLT EADVGITKFV 
    SSHQGFSGIL KERYSDFVVH EIGKDGRISH LNDLSIPVDE EDPSEDIFTV LTAEEKQRLE 
    ELQLFKNKET SVAIEVIEDT KEKRTIIHQA IKSLFPGLET KTEDREGKKY IVAYHAAGKK 
    ALANPRKHSW PKSRGSYCHF VLYKENKDTM DAINVLSKYL RVKPNIFSYM GTKDKRAITV 
    QEIAVLKITA QRLAHLNKCL MNFKLGNFSY QKNPLKLGEL QGNHFTVVLR NITGTDDQVQ 
    QAMNSLKEIG FINYYGMQRF GTTAVPTYQV GRAILQNSWT EVMDLILKPR SGAEKGYLVK 
    CREEWAKTKD PTAALRKLPV KRCVEGQLLR GLSKYGMKNI VSAFGIIPRN NRLMYIHSYQ 
    SYVWNNMVSK RIEDYGLKPV PGDLVLKGAT ATYIEEDDVN NYSIHDVVMP LPGFDVIYPK 
    HKIQEAYREM LTADNLDIDN MRHKIRDYSL SGAYRKIIIR PQNVSWEVVA YDDPKIPLFN 
    TDVDNLEGKT PPVFASEGKY RALKMDFSLP PSTYATMAIR EVLKMDTSIK NQTQLNTTWL 
    R

Genular Protein ID: 3827124875

Symbol: B3KRB2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 661
  • Mass: 75008
  • Checksum: F2339CB614594448
  • Sequence:
  • MEMTEMTGVS LKRGALVVED NDSGVPVEET KKQKLSECSL TKGQDGLQND FLSISEDVPR 
    PPDTVSTGKG GKNSEAQLED EEEEEEDGLS EECEEEESES FADMMKHGLT EADVGITKFV 
    SSHQGFSGIL KERYSDFVVH EIGKDGRISH LNDLSIPVDE EDPSEDIFTV LTAEEKQRLE 
    ELQLFKNKET SVAIEVIEDT KEKRTIIHQA NKSLFPGLET KTEDREGKKY IVAYHAAGKK 
    ALANPRKHSW PKSRGSYCHF VLYKENKDTM DAINALSKYL RVKPNIFSYM GTKDKRAITV 
    QEIAVLKITA QRLAHLNKCL MNFKLGNFSY QKNPLKLGEL QGNHFTVVLR NITGTDDQVQ 
    QAMNSLKEIG FINYYGMQRF GTTAVPTYQV GRAILQNSWT EVMDLILKPR SGAEKGYLVK 
    CREEWAKTKD PTAALRKLPV KRCVEGQLLR GLSKYGMKNI VSAFGIIPRN NRLMYIHSYQ 
    SYVWNNMVSK RIEDYGLKPV PGDLVLKGAT ATYIEEDDVN NYSIHDVVMP LPGFDVIYPK 
    HKIQEAYREM LTADNLDIDN MRHKIRDYSL SGAYRKIIIR PQNVSWEVVA YDDPKIPLFN 
    TDVDNLEGKT PPVFASEGKY RALKMDFSLP PSTYATMAIR EVLKMDTSIK NQTQLNTTWL 
    R

Genular Protein ID: 3850455063

Symbol: B3KY42_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 661
  • Mass: 75036
  • Checksum: A85D3636A70D1A05
  • Sequence:
  • MEMTEMTGVS LKRGALVVED NDSGVPVEET KKQKLSECSL TKGQDGLQND FLSISEDVPR 
    PPDTVSTGKG GKNSEAQLED EEEEEEDGLS EECEEEESES FADMMKHGLT EADVGITKFV 
    SSHQGFSGIL KERYSDFVVH EIGKDGRISH LNDLSIPVDE EDPSEDIFTV LTAEEKQRLE 
    ELQLFKNKET SVAIEVIEDT KEKRTIIHQA IKSLFPGLET KTEDREGKKY IVAYHAAGEK 
    ALANPRKHSW PKSRGSYCHF VLYKENKDTM DAINVLSKYL RVKPNIFSYM GTKDKRAITV 
    QEIAVLKITA QRLAHLNKCL MNFKLGNFSY QKNPLKLGEL QGNHFTVVLR NITGTDDQVQ 
    QAMNSLKEIG FINYYGMQRF GTTAVPTYQV GRAILQNSWT EVMDLILKPR SGAEKGYLVK 
    CREEWAKTKD PTAALRKLPV KRCVEGQLLR GLSKYGMKNI VSAFGIIPRN NRLMYIHSYQ 
    SYVWNNMVSK RIEDYGLKPV PGDLVLKGAT ATYIEEDDVN NYSIHDVVMP LPGFDVIYPK 
    HKIQEAYREM LTADNLDIDN MRHKIRDYSL SGAYRKIIIR PQNVSWEVVA YDDPKIPLFN 
    TDVDNLEGKT PPVFASEGKY RALKMDFSLP PSTYATMAIR EVLKMDTSIK NQTQLNTTWL 
    R

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.