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Q9BQ52

- RNZ2_HUMAN

UniProt

Q9BQ52 - RNZ2_HUMAN

Protein

Zinc phosphodiesterase ELAC protein 2

Gene

ELAC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 2 (16 Jan 2004)
      Previous versions | rss
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    Functioni

    Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA.1 Publication

    Catalytic activityi

    Endonucleolytic cleavage of RNA, removing extra 3' nucleotides from tRNA precursor, generating 3' termini of tRNAs. A 3'-hydroxy group is left at the tRNA terminus and a 5'-phosphoryl group is left at the trailer molecule.1 Publication

    Cofactori

    Zinc.Curated

    GO - Molecular functioni

    1. endonuclease activity Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW
    3. poly(A) RNA binding Source: UniProtKB

    GO - Biological processi

    1. mitochondrial tRNA 3'-trailer cleavage, endonucleolytic Source: UniProtKB

    Keywords - Molecular functioni

    Endonuclease, Hydrolase, Nuclease

    Keywords - Biological processi

    tRNA processing

    Keywords - Ligandi

    Metal-binding, Zinc

    Enzyme and pathway databases

    BRENDAi3.1.26.11. 2681.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc phosphodiesterase ELAC protein 2 (EC:3.1.26.11)
    Alternative name(s):
    ElaC homolog protein 2
    Heredity prostate cancer protein 2
    Ribonuclease Z 2
    Short name:
    RNase Z 2
    tRNA 3 endonuclease 2
    tRNase Z 2
    Gene namesi
    Name:ELAC2
    Synonyms:HPC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:14198. ELAC2.

    Subcellular locationi

    Mitochondrion 1 Publication. Nucleus 1 Publication
    Note: Mainly mitochondrial.

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Mitochondrion, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]: A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti211 – 2111R → Q in HPC2. 1 Publication
    VAR_017425
    Natural varianti217 – 2171S → L in HPC2; does not affect the enzymatic activity. 9 Publications
    Corresponds to variant rs4792311 [ dbSNP | Ensembl ].
    VAR_017426
    Natural varianti487 – 4871G → R in HPC2. 1 Publication
    VAR_017427
    Natural varianti541 – 5411A → T in HPC2; does not affect the enzymatic activity. 6 Publications
    Corresponds to variant rs34152967 [ dbSNP | Ensembl ].
    VAR_017428
    Natural varianti622 – 6221E → V in HPC2; higher frequency in prostate cancer cases. 1 Publication
    Corresponds to variant rs119484087 [ dbSNP | Ensembl ].
    VAR_017429
    Natural varianti781 – 7811R → H in HPC2; does not affect the enzymatic activity. 1 Publication
    VAR_017431
    Natural varianti806 – 8061G → R in HPC2. 1 Publication
    VAR_017432
    Combined oxidative phosphorylation deficiency 17 (COXPD17) [MIM:615440]: An autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti154 – 1541F → L in COXPD17. 1 Publication
    VAR_070844
    Natural varianti423 – 4231L → F in COXPD17. 1 Publication
    VAR_070845
    Natural varianti520 – 5201T → I in COXPD17. 1 Publication
    VAR_070846

    Keywords - Diseasei

    Disease mutation, Proto-oncogene

    Organism-specific databases

    MIMi176807. phenotype.
    614731. phenotype.
    615440. phenotype.
    Orphaneti369913. Combined oxidative phosphorylation defect type 17.
    1331. Familial prostate cancer.
    PharmGKBiPA27739.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 1616MitochondrionSequence AnalysisAdd
    BLAST
    Chaini17 – 826810Zinc phosphodiesterase ELAC protein 2PRO_0000155828Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei199 – 1991Phosphoserine1 Publication
    Modified residuei208 – 2081PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9BQ52.
    PaxDbiQ9BQ52.
    PRIDEiQ9BQ52.

    PTM databases

    PhosphoSiteiQ9BQ52.

    Expressioni

    Tissue specificityi

    Widely expressed. Highly expressed in heart, placenta, liver, skeletal muscle, kidney, pancreas, testis and ovary. Weakly expressed in brain, lung, spleen, thymus, prostate, small intestine, colon and leukocytes.1 Publication

    Gene expression databases

    ArrayExpressiQ9BQ52.
    BgeeiQ9BQ52.
    CleanExiHS_ELAC2.
    GenevestigatoriQ9BQ52.

    Organism-specific databases

    HPAiHPA019535.

    Interactioni

    Subunit structurei

    Homodimer By similarity. Interacts with PTCD1.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PUF60Q9UHX11EBI-718223,EBI-1053259

    Protein-protein interaction databases

    BioGridi121937. 24 interactions.
    IntActiQ9BQ52. 5 interactions.
    MINTiMINT-1401619.
    STRINGi9606.ENSP00000337445.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BQ52.
    SMRiQ9BQ52. Positions 482-734.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the RNase Z family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG1234.
    HOGENOMiHOG000007499.
    HOVERGENiHBG050042.
    InParanoidiQ9BQ52.
    KOiK00784.
    OMAiKAWLQQY.
    OrthoDBiEOG7B05CB.
    PhylomeDBiQ9BQ52.
    TreeFamiTF105797.

    Family and domain databases

    Gene3Di3.60.15.10. 3 hits.
    InterProiIPR001279. Beta-lactamas-like.
    IPR027794. tRNase_Z_dom.
    [Graphical view]
    PfamiPF13691. Lactamase_B_4. 1 hit.
    [Graphical view]
    SMARTiSM00849. Lactamase_B. 1 hit.
    [Graphical view]
    SUPFAMiSSF56281. SSF56281. 3 hits.

    Sequences (4)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BQ52-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MWALCSLLRS AAGRTMSQGR TISQAPARRE RPRKDPLRHL RTREKRGPSG    50
    CSGGPNTVYL QVVAAGSRDS GAALYVFSEF NRYLFNCGEG VQRLMQEHKL 100
    KVARLDNIFL TRMHWSNVGG LSGMILTLKE TGLPKCVLSG PPQLEKYLEA 150
    IKIFSGPLKG IELAVRPHSA PEYEDETMTV YQIPIHSEQR RGKHQPWQSP 200
    ERPLSRLSPE RSSDSESNEN EPHLPHGVSQ RRGVRDSSLV VAFICKLHLK 250
    RGNFLVLKAK EMGLPVGTAA IAPIIAAVKD GKSITHEGRE ILAEELCTPP 300
    DPGAAFVVVE CPDESFIQPI CENATFQRYQ GKADAPVALV VHMAPASVLV 350
    DSRYQQWMER FGPDTQHLVL NENCASVHNL RSHKIQTQLN LIHPDIFPLL 400
    TSFRCKKEGP TLSVPMVQGE CLLKYQLRPR REWQRDAIIT CNPEEFIVEA 450
    LQLPNFQQSV QEYRRSAQDG PAPAEKRSQY PEIIFLGTGS AIPMKIRNVS 500
    ATLVNISPDT SLLLDCGEGT FGQLCRHYGD QVDRVLGTLA AVFVSHLHAD 550
    HHTGLPSILL QRERALASLG KPLHPLLVVA PNQLKAWLQQ YHNQCQEVLH 600
    HISMIPAKCL QEGAEISSPA VERLISSLLR TCDLEEFQTC LVRHCKHAFG 650
    CALVHTSGWK VVYSGDTMPC EALVRMGKDA TLLIHEATLE DGLEEEAVEK 700
    THSTTSQAIS VGMRMNAEFI MLNHFSQRYA KVPLFSPNFS EKVGVAFDHM 750
    KVCFGDFPTM PKLIPPLKAL FAGDIEEMEE RREKRELRQV RAALLSRELA 800
    GGLEDGEPQQ KRAHTEEPQA KKVRAQ 826
    Length:826
    Mass (Da):92,219
    Last modified:January 16, 2004 - v2
    Checksum:i4AE701C755EC7339
    GO
    Isoform 2 (identifier: Q9BQ52-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-94: Missing.
         554-595: GLPSILLQRE...AWLQQYHNQC → VSVGLDHKAG...CPELLLLISG
         596-826: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:501
    Mass (Da):56,095
    Checksum:iC1C61F066EE55707
    GO
    Isoform 3 (identifier: Q9BQ52-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-372: Missing.
         373-406: NCASVHNLRSHKIQTQLNLIHPDIFPLLTSFRCK → MRTVPQFTTFAATRFKPSSTSSTRTSSPCSPVSA

    Note: No experimental confirmation available.

    Show »
    Length:454
    Mass (Da):50,615
    Checksum:i8A85498B4B0BFDED
    GO
    Isoform 4 (identifier: Q9BQ52-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         188-227: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:786
    Mass (Da):87,564
    Checksum:i783F20F15CB91BAC
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti165 – 1651V → M in AK001392. (PubMed:14702039)Curated
    Sequence conflicti406 – 4061Missing in AK001392. (PubMed:14702039)Curated
    Sequence conflicti592 – 5921H → Y in AK001392. (PubMed:14702039)Curated
    Sequence conflicti754 – 7541F → L in AK001392. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti52 – 521S → F.
    Corresponds to variant rs9895963 [ dbSNP | Ensembl ].
    VAR_038210
    Natural varianti154 – 1541F → L in COXPD17. 1 Publication
    VAR_070844
    Natural varianti211 – 2111R → Q in HPC2. 1 Publication
    VAR_017425
    Natural varianti217 – 2171S → L in HPC2; does not affect the enzymatic activity. 9 Publications
    Corresponds to variant rs4792311 [ dbSNP | Ensembl ].
    VAR_017426
    Natural varianti423 – 4231L → F in COXPD17. 1 Publication
    VAR_070845
    Natural varianti436 – 4361D → N.
    Corresponds to variant rs3760317 [ dbSNP | Ensembl ].
    VAR_038211
    Natural varianti487 – 4871G → R in HPC2. 1 Publication
    VAR_017427
    Natural varianti520 – 5201T → I in COXPD17. 1 Publication
    VAR_070846
    Natural varianti541 – 5411A → T in HPC2; does not affect the enzymatic activity. 6 Publications
    Corresponds to variant rs34152967 [ dbSNP | Ensembl ].
    VAR_017428
    Natural varianti622 – 6221E → V in HPC2; higher frequency in prostate cancer cases. 1 Publication
    Corresponds to variant rs119484087 [ dbSNP | Ensembl ].
    VAR_017429
    Natural varianti627 – 6271S → L.1 Publication
    Corresponds to variant rs78105154 [ dbSNP | Ensembl ].
    VAR_017430
    Natural varianti781 – 7811R → H in HPC2; does not affect the enzymatic activity. 1 Publication
    VAR_017431
    Natural varianti806 – 8061G → R in HPC2. 1 Publication
    VAR_017432

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 372372Missing in isoform 3. 1 PublicationVSP_009168Add
    BLAST
    Alternative sequencei1 – 9494Missing in isoform 2. 1 PublicationVSP_009169Add
    BLAST
    Alternative sequencei188 – 22740Missing in isoform 4. 1 PublicationVSP_043449Add
    BLAST
    Alternative sequencei373 – 40634NCASV…SFRCK → MRTVPQFTTFAATRFKPSST SSTRTSSPCSPVSA in isoform 3. 1 PublicationVSP_009170Add
    BLAST
    Alternative sequencei554 – 59542GLPSI…YHNQC → VSVGLDHKAGAWRRHCHVEL ALWLRLFLRFQTCPELLLLI SG in isoform 2. 1 PublicationVSP_009171Add
    BLAST
    Alternative sequencei596 – 826231Missing in isoform 2. 1 PublicationVSP_009172Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF304369 Genomic DNA. Translation: AAG24440.1.
    AF304370 mRNA. Translation: AAG24441.1.
    AK001392 mRNA. No translation available.
    AK124838 mRNA. Translation: BAC85964.1.
    AK125030 mRNA. Translation: BAC86026.1.
    AK298397 mRNA. Translation: BAG60631.1.
    CR457261 mRNA. Translation: CAG33542.1.
    AC005277 Genomic DNA. No translation available.
    BC001939 mRNA. Translation: AAH01939.1.
    BC004158 mRNA. Translation: AAH04158.1.
    CCDSiCCDS11164.1. [Q9BQ52-1]
    CCDS54093.1. [Q9BQ52-4]
    RefSeqiNP_001159434.1. NM_001165962.1. [Q9BQ52-4]
    NP_060597.4. NM_018127.6. [Q9BQ52-1]
    NP_776065.1. NM_173717.1.
    UniGeneiHs.434232.

    Genome annotation databases

    EnsembliENST00000338034; ENSP00000337445; ENSG00000006744. [Q9BQ52-1]
    ENST00000426905; ENSP00000405223; ENSG00000006744. [Q9BQ52-4]
    GeneIDi60528.
    KEGGihsa:60528.
    UCSCiuc002gnv.4. human. [Q9BQ52-3]
    uc002gnz.4. human. [Q9BQ52-1]
    uc010vvr.2. human. [Q9BQ52-4]

    Polymorphism databases

    DMDMi41017788.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF304369 Genomic DNA. Translation: AAG24440.1 .
    AF304370 mRNA. Translation: AAG24441.1 .
    AK001392 mRNA. No translation available.
    AK124838 mRNA. Translation: BAC85964.1 .
    AK125030 mRNA. Translation: BAC86026.1 .
    AK298397 mRNA. Translation: BAG60631.1 .
    CR457261 mRNA. Translation: CAG33542.1 .
    AC005277 Genomic DNA. No translation available.
    BC001939 mRNA. Translation: AAH01939.1 .
    BC004158 mRNA. Translation: AAH04158.1 .
    CCDSi CCDS11164.1. [Q9BQ52-1 ]
    CCDS54093.1. [Q9BQ52-4 ]
    RefSeqi NP_001159434.1. NM_001165962.1. [Q9BQ52-4 ]
    NP_060597.4. NM_018127.6. [Q9BQ52-1 ]
    NP_776065.1. NM_173717.1.
    UniGenei Hs.434232.

    3D structure databases

    ProteinModelPortali Q9BQ52.
    SMRi Q9BQ52. Positions 482-734.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121937. 24 interactions.
    IntActi Q9BQ52. 5 interactions.
    MINTi MINT-1401619.
    STRINGi 9606.ENSP00000337445.

    PTM databases

    PhosphoSitei Q9BQ52.

    Polymorphism databases

    DMDMi 41017788.

    Proteomic databases

    MaxQBi Q9BQ52.
    PaxDbi Q9BQ52.
    PRIDEi Q9BQ52.

    Protocols and materials databases

    DNASUi 60528.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000338034 ; ENSP00000337445 ; ENSG00000006744 . [Q9BQ52-1 ]
    ENST00000426905 ; ENSP00000405223 ; ENSG00000006744 . [Q9BQ52-4 ]
    GeneIDi 60528.
    KEGGi hsa:60528.
    UCSCi uc002gnv.4. human. [Q9BQ52-3 ]
    uc002gnz.4. human. [Q9BQ52-1 ]
    uc010vvr.2. human. [Q9BQ52-4 ]

    Organism-specific databases

    CTDi 60528.
    GeneCardsi GC17M012894.
    HGNCi HGNC:14198. ELAC2.
    HPAi HPA019535.
    MIMi 176807. phenotype.
    605367. gene.
    614731. phenotype.
    615440. phenotype.
    neXtProti NX_Q9BQ52.
    Orphaneti 369913. Combined oxidative phosphorylation defect type 17.
    1331. Familial prostate cancer.
    PharmGKBi PA27739.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1234.
    HOGENOMi HOG000007499.
    HOVERGENi HBG050042.
    InParanoidi Q9BQ52.
    KOi K00784.
    OMAi KAWLQQY.
    OrthoDBi EOG7B05CB.
    PhylomeDBi Q9BQ52.
    TreeFami TF105797.

    Enzyme and pathway databases

    BRENDAi 3.1.26.11. 2681.

    Miscellaneous databases

    ChiTaRSi ELAC2. human.
    GeneWikii ELAC2.
    GenomeRNAii 60528.
    NextBioi 65429.
    PROi Q9BQ52.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BQ52.
    Bgeei Q9BQ52.
    CleanExi HS_ELAC2.
    Genevestigatori Q9BQ52.

    Family and domain databases

    Gene3Di 3.60.15.10. 3 hits.
    InterProi IPR001279. Beta-lactamas-like.
    IPR027794. tRNase_Z_dom.
    [Graphical view ]
    Pfami PF13691. Lactamase_B_4. 1 hit.
    [Graphical view ]
    SMARTi SM00849. Lactamase_B. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56281. SSF56281. 3 hits.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS HPC2 LEU-217; THR-541 AND HIS-781.
    2. "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] (ISOFORMS 1; 2; 3 AND 4).
      Tissue: Hippocampus, Liver, Teratocarcinoma and Thalamus.
    3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HPC2 LEU-217.
    4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HPC2 LEU-217.
      Tissue: Lung.
    6. "A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease."
      Takaku H., Minagawa A., Takagi M., Nashimoto M.
      Nucleic Acids Res. 31:2272-2278(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: ENZYME ACTIVITY, CHARACTERIZATION OF VARIANTS HPC2 LEU-217; THR-541 AND HIS-781.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-199, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "RNA processing in human mitochondria."
      Sanchez M.I., Mercer T.R., Davies S.M., Shearwood A.M., Nygard K.K., Richman T.R., Mattick J.S., Rackham O., Filipovska A.
      Cell Cycle 10:2904-2916(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PTCD1.
    10. "Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs."
      Brzezniak L.K., Bijata M., Szczesny R.J., Stepien P.P.
      RNA Biol. 8:616-626(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.
    11. "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: VARIANTS HPC2 LEU-217 AND THR-541.
    13. "ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer."
      Roekman A., Ikonen T., Mononen N., Autio V., Matikainen M.P., Koivisto P.A., Tammela T.L.J., Kallioniemi O.-P., Schleutker J.
      Cancer Res. 61:6038-6041(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HPC2 VAL-622.
    14. Cited for: VARIANTS HPC2 GLN-211; LEU-217; ARG-487; THR-541 AND ARG-806.
    15. "Association of common missense changes in ELAC2 (HPC2) with prostate cancer in a Japanese case-control series."
      Fujiwara H., Emi M., Nagai H., Nishimura T., Konishi N., Kubota Y., Ichikawa T., Takahashi S., Shuin T., Habuchi T., Ogawa O., Inoue K., Skolnick M.H., Swensen J., Camp N.J., Tavtigian S.V.
      J. Hum. Genet. 47:641-648(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HPC2 LEU-217 AND THR-541.
    16. "Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer."
      Camp N.J., Tavtigian S.V.
      Am. J. Hum. Genet. 71:1475-1478(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HPC2 LEU-217 AND THR-541.
    17. "Ser217Leu polymorphism of the HPC2/ELAC2 gene associated with prostatic cancer risk in Japanese men."
      Takahashi H., Lu W., Watanabe M., Katoh T., Furusato M., Tsukino H., Nakao H., Sudo A., Suzuki H., Akakura K., Ikemoto I., Asano K., Ito T., Wakui S., Muto T., Hano H.
      Int. J. Cancer 107:224-228(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LEU-627.
    18. Cited for: VARIANTS HPC2 LEU-217 AND THR-541.
    19. Cited for: VARIANT [LARGE SCALE ANALYSIS] HPC2 LEU-217.
    20. Cited for: VARIANTS COXPD17 LEU-154; PHE-423 AND ILE-520.

    Entry informationi

    Entry nameiRNZ2_HUMAN
    AccessioniPrimary (citable) accession number: Q9BQ52
    Secondary accession number(s): B4DPL9
    , Q6IA94, Q9HAS8, Q9HAS9, Q9NVT1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 16, 2004
    Last sequence update: January 16, 2004
    Last modified: October 1, 2014
    This is version 125 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 17
      Human chromosome 17: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3