Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9BQ52

- RNZ2_HUMAN

UniProt

Q9BQ52 - RNZ2_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

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

Zn2+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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9BQ52.
CleanExiHS_ELAC2.
ExpressionAtlasiQ9BQ52. baseline and differential.
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. 25 interactions.
IntActiQ9BQ52. 5 interactions.
MINTiMINT-1401619.
STRINGi9606.ENSP00000337445.

Structurei

3D structure databases

ProteinModelPortaliQ9BQ52.
SMRiQ9BQ52. Positions 59-158, 482-734.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RNase Z family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG1234.
GeneTreeiENSGT00730000111191.
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

        10         20         30         40         50
MWALCSLLRS AAGRTMSQGR TISQAPARRE RPRKDPLRHL RTREKRGPSG
60 70 80 90 100
CSGGPNTVYL QVVAAGSRDS GAALYVFSEF NRYLFNCGEG VQRLMQEHKL
110 120 130 140 150
KVARLDNIFL TRMHWSNVGG LSGMILTLKE TGLPKCVLSG PPQLEKYLEA
160 170 180 190 200
IKIFSGPLKG IELAVRPHSA PEYEDETMTV YQIPIHSEQR RGKHQPWQSP
210 220 230 240 250
ERPLSRLSPE RSSDSESNEN EPHLPHGVSQ RRGVRDSSLV VAFICKLHLK
260 270 280 290 300
RGNFLVLKAK EMGLPVGTAA IAPIIAAVKD GKSITHEGRE ILAEELCTPP
310 320 330 340 350
DPGAAFVVVE CPDESFIQPI CENATFQRYQ GKADAPVALV VHMAPASVLV
360 370 380 390 400
DSRYQQWMER FGPDTQHLVL NENCASVHNL RSHKIQTQLN LIHPDIFPLL
410 420 430 440 450
TSFRCKKEGP TLSVPMVQGE CLLKYQLRPR REWQRDAIIT CNPEEFIVEA
460 470 480 490 500
LQLPNFQQSV QEYRRSAQDG PAPAEKRSQY PEIIFLGTGS AIPMKIRNVS
510 520 530 540 550
ATLVNISPDT SLLLDCGEGT FGQLCRHYGD QVDRVLGTLA AVFVSHLHAD
560 570 580 590 600
HHTGLPSILL QRERALASLG KPLHPLLVVA PNQLKAWLQQ YHNQCQEVLH
610 620 630 640 650
HISMIPAKCL QEGAEISSPA VERLISSLLR TCDLEEFQTC LVRHCKHAFG
660 670 680 690 700
CALVHTSGWK VVYSGDTMPC EALVRMGKDA TLLIHEATLE DGLEEEAVEK
710 720 730 740 750
THSTTSQAIS VGMRMNAEFI MLNHFSQRYA KVPLFSPNFS EKVGVAFDHM
760 770 780 790 800
KVCFGDFPTM PKLIPPLKAL FAGDIEEMEE RREKRELRQV RAALLSRELA
810 820
GGLEDGEPQQ KRAHTEEPQA KKVRAQ
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 59-158, 482-734.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121937. 25 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.
GeneTreei ENSGT00730000111191.
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

Bgeei Q9BQ52.
CleanExi HS_ELAC2.
ExpressionAtlasi Q9BQ52. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 127 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