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Q99575

- POP1_HUMAN

UniProt

Q99575 - POP1_HUMAN

Protein

Ribonucleases P/MRP protein subunit POP1

Gene

POP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 2 (21 Feb 2001)
      Previous versions | rss
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    Functioni

    Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of RNase MRP.

    Catalytic activityi

    Endonucleolytic cleavage of RNA, removing 5'-extranucleotides from tRNA precursor.

    GO - Molecular functioni

    1. poly(A) RNA binding Source: UniProtKB
    2. protein binding Source: IntAct
    3. ribonuclease MRP activity Source: UniProtKB
    4. ribonuclease P activity Source: UniProtKB

    GO - Biological processi

    1. RNA phosphodiester bond hydrolysis Source: GOC
    2. RNA phosphodiester bond hydrolysis, endonucleolytic Source: GOC
    3. tRNA 5'-leader removal Source: InterPro
    4. tRNA catabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    tRNA processing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ribonucleases P/MRP protein subunit POP1 (EC:3.1.26.5)
    Short name:
    hPOP1
    Gene namesi
    Name:POP1
    Synonyms:KIAA0061
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:30129. POP1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular space Source: UniProt
    2. nucleolar ribonuclease P complex Source: UniProtKB
    3. ribonuclease MRP complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Defects in POP1 may be the cause of a severe skeletal dysplasia reminiscent of anauxetic dysplasia. Affected individuals show severe growth retardation of prenatal onset, a bone dysplasia affecting the epiphyses and metaphyses of the long bones particularly in the lower limbs, and abnormalities of the spine including irregularly shaped vertebral bodies and marked cervical spine instability.

    Keywords - Diseasei

    Disease mutation, Dwarfism

    Organism-specific databases

    Orphaneti93347. Anauxetic dysplasia.
    PharmGKBiPA134907403.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10241024Ribonucleases P/MRP protein subunit POP1PRO_0000058513Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei367 – 3671Phosphoserine1 Publication
    Modified residuei584 – 5841Phosphoserine1 Publication
    Modified residuei729 – 7291Phosphoserine1 Publication
    Modified residuei730 – 7301Phosphoserine4 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ99575.
    PaxDbiQ99575.
    PeptideAtlasiQ99575.
    PRIDEiQ99575.

    PTM databases

    PhosphoSiteiQ99575.

    Expressioni

    Gene expression databases

    ArrayExpressiQ99575.
    BgeeiQ99575.
    CleanExiHS_POP1.
    GenevestigatoriQ99575.

    Interactioni

    Subunit structurei

    RNase P consists of an RNA moiety and at least 8 protein subunits; POP1, RPP14, RPP20/POP7, RPP25, RPP29/POP4, RPP30, RPP38 and RPP40.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    POP4O957072EBI-366741,EBI-366477

    Protein-protein interaction databases

    BioGridi116140. 51 interactions.
    IntActiQ99575. 8 interactions.
    MINTiMINT-4537563.
    STRINGi9606.ENSP00000339529.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99575.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG297409.
    HOGENOMiHOG000013102.
    HOVERGENiHBG008232.
    InParanoidiQ99575.
    KOiK01164.
    OMAiKKMRNQP.
    OrthoDBiEOG7HF1HN.
    PhylomeDBiQ99575.
    TreeFamiTF314236.

    Family and domain databases

    InterProiIPR012590. POPLD.
    IPR009723. RNase_P/MRP_POP1.
    [Graphical view]
    PfamiPF06978. POP1. 1 hit.
    PF08170. POPLD. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q99575-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSNAKERKHA KKMRNQPTNV TLSSGFVADR GVKHHSGGEK PFQAQKQEPH     50
    PGTSRQRQTR VNPHSLPDPE VNEQSSSKGM FRKKGGWKAG PEGTSQEIPK 100
    YITASTFAQA RAAEISAMLK AVTQKSSNSL VFQTLPRHMR RRAMSHNVKR 150
    LPRRLQEIAQ KEAEKAVHQK KEHSKNKCHK ARRCHMNRTL EFNRRQKKNI 200
    WLETHIWHAK RFHMVKKWGY CLGERPTVKS HRACYRAMTN RCLLQDLSYY 250
    CCLELKGKEE EILKALSGMC NIDTGLTFAA VHCLSGKRQG SLVLYRVNKY 300
    PREMLGPVTF IWKSQRTPGD PSESRQLWIW LHPTLKQDIL EEIKAACQCV 350
    EPIKSAVCIA DPLPTPSQEK SQTELPDEKI GKKRKRKDDG ENAKPIKKII 400
    GDGTRDPCLP YSWISPTTGI IISDLTMEMN RFRLIGPLSH SILTEAIKAA 450
    SVHTVGEDTE ETPHRWWIET CKKPDSVSLH CRQEAIFELL GGITSPAEIP 500
    AGTILGLTVG DPRINLPQKK SKALPNPEKC QDNEKVRQLL LEGVPVECTH 550
    SFIWNQDICK SVTENKISDQ DLNRMRSELL VPGSQLILGP HESKIPILLI 600
    QQPGKVTGED RLGWGSGWDV LLPKGWGMAF WIPFIYRGVR VGGLKESAVH 650
    SQYKRSPNVP GDFPDCPAGM LFAEEQAKNL LEKYKRRPPA KRPNYVKLGT 700
    LAPFCCPWEQ LTQDWESRVQ AYEEPSVASS PNGKESDLRR SEVPCAPMPK 750
    KTHQPSDEVG TSIEHPREAE EVMDAGCQES AGPERITDQE ASENHVAATG 800
    SHLCVLRSRK LLKQLSAWCG PSSEDSRGGR RAPGRGQQGL TREACLSILG 850
    HFPRALVWVS LSLLSKGSPE PHTMICVPAK EDFLQLHEDW HYCGPQESKH 900
    SDPFRSKILK QKEKKKREKR QKPGRASSDG PAGEEPVAGQ EALTLGLWSG 950
    PLPRVTLHCS RTLLGFVTQG DFSMAVGCGE ALGFVSLTGL LDMLSSQPAA 1000
    QRGLVLLRPP ASLQYRFARI AIEV 1024
    Length:1,024
    Mass (Da):114,709
    Last modified:February 21, 2001 - v2
    Checksum:iA1DB872F3B940C02
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti127 – 1271S → L.
    Corresponds to variant rs3824145 [ dbSNP | Ensembl ].
    VAR_057746
    Natural varianti460 – 4601E → A.
    Corresponds to variant rs2306131 [ dbSNP | Ensembl ].
    VAR_057747
    Natural varianti522 – 5221K → N.
    Corresponds to variant rs17184326 [ dbSNP | Ensembl ].
    VAR_057748
    Natural varianti583 – 5831G → E Probable disease associated mutation found in a patient with a skeletal dysplasia reminiscent of anauxetic dysplasia. 1 Publication
    VAR_067755
    Natural varianti675 – 6751E → Q in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036232
    Natural varianti994 – 9941L → V.
    Corresponds to variant rs17856355 [ dbSNP | Ensembl ].
    VAR_057749

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK291434 mRNA. Translation: BAF84123.1.
    CH471060 Genomic DNA. Translation: EAW91776.1.
    X99302 mRNA. Translation: CAA67684.1.
    D31765 mRNA. Translation: BAA06543.1.
    CCDSiCCDS6277.1.
    RefSeqiNP_001139332.1. NM_001145860.1.
    NP_001139333.1. NM_001145861.1.
    NP_055844.2. NM_015029.2.
    UniGeneiHs.252828.

    Genome annotation databases

    EnsembliENST00000349693; ENSP00000339529; ENSG00000104356.
    ENST00000401707; ENSP00000385787; ENSG00000104356.
    GeneIDi10940.
    KEGGihsa:10940.
    UCSCiuc003yij.4. human.

    Polymorphism databases

    DMDMi13124451.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK291434 mRNA. Translation: BAF84123.1 .
    CH471060 Genomic DNA. Translation: EAW91776.1 .
    X99302 mRNA. Translation: CAA67684.1 .
    D31765 mRNA. Translation: BAA06543.1 .
    CCDSi CCDS6277.1.
    RefSeqi NP_001139332.1. NM_001145860.1.
    NP_001139333.1. NM_001145861.1.
    NP_055844.2. NM_015029.2.
    UniGenei Hs.252828.

    3D structure databases

    ProteinModelPortali Q99575.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116140. 51 interactions.
    IntActi Q99575. 8 interactions.
    MINTi MINT-4537563.
    STRINGi 9606.ENSP00000339529.

    PTM databases

    PhosphoSitei Q99575.

    Polymorphism databases

    DMDMi 13124451.

    Proteomic databases

    MaxQBi Q99575.
    PaxDbi Q99575.
    PeptideAtlasi Q99575.
    PRIDEi Q99575.

    Protocols and materials databases

    DNASUi 10940.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000349693 ; ENSP00000339529 ; ENSG00000104356 .
    ENST00000401707 ; ENSP00000385787 ; ENSG00000104356 .
    GeneIDi 10940.
    KEGGi hsa:10940.
    UCSCi uc003yij.4. human.

    Organism-specific databases

    CTDi 10940.
    GeneCardsi GC08P099129.
    H-InvDB HIX0007674.
    HGNCi HGNC:30129. POP1.
    MIMi 602486. gene.
    neXtProti NX_Q99575.
    Orphaneti 93347. Anauxetic dysplasia.
    PharmGKBi PA134907403.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG297409.
    HOGENOMi HOG000013102.
    HOVERGENi HBG008232.
    InParanoidi Q99575.
    KOi K01164.
    OMAi KKMRNQP.
    OrthoDBi EOG7HF1HN.
    PhylomeDBi Q99575.
    TreeFami TF314236.

    Miscellaneous databases

    GeneWikii POP1_(gene).
    GenomeRNAii 10940.
    NextBioi 41555.
    PROi Q99575.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99575.
    Bgeei Q99575.
    CleanExi HS_POP1.
    Genevestigatori Q99575.

    Family and domain databases

    InterProi IPR012590. POPLD.
    IPR009723. RNase_P/MRP_POP1.
    [Graphical view ]
    Pfami PF06978. POP1. 1 hit.
    PF08170. POPLD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "hPop1: an autoantigenic protein subunit shared by the human RNase P and RNase MRP ribonucleoproteins."
      Lygerou Z., Pluk H., Van Venrooij W.J., Seraphin B.
      EMBO J. 15:5936-5948(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-126.
    4. "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1."
      Nomura N., Nagase T., Miyajima N., Sazuka T., Tanaka A., Sato S., Seki N., Kawarabayasi Y., Ishikawa K., Tabata S.
      DNA Res. 1:223-229(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 122-1024.
      Tissue: Bone marrow.
    5. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-584, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-367 AND SER-730, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-730, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-730, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia."
      Glazov E.A., Zankl A., Donskoi M., Kenna T.J., Thomas G.P., Clark G.R., Duncan E.L., Brown M.A.
      PLoS Genet. 7:E1002027-E1002027(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SKELETAL DYSPLASIA, VARIANT GLU-583.
    13. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-729 AND SER-730, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-675.

    Entry informationi

    Entry nameiPOP1_HUMAN
    AccessioniPrimary (citable) accession number: Q99575
    Secondary accession number(s): A8K5W9, Q15037
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: February 21, 2001
    Last modified: October 1, 2014
    This is version 132 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3