Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9BQ52 (RNZ2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ELAC2
Synonyms:HPC2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length826 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA. Ref.10

Catalytic activity

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. Ref.6

Cofactor

Zinc Probable.

Subunit structure

Homodimer By similarity. Interacts with PTCD1. Ref.9

Subcellular location

Mitochondrion. Nucleus. Note: Mainly mitochondrial. Ref.10

Tissue specificity

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. Ref.1

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.3 Ref.5 Ref.6 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.18

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.20

Sequence similarities

Belongs to the RNase Z family.

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PUF60Q9UHX11EBI-718223,EBI-1053259

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BQ52-1)

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.
Isoform 2 (identifier: Q9BQ52-2)

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.
Isoform 3 (identifier: Q9BQ52-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-372: Missing.
     373-406: NCASVHNLRSHKIQTQLNLIHPDIFPLLTSFRCK → MRTVPQFTTFAATRFKPSSTSSTRTSSPCSPVSA
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9BQ52-4)

The sequence of this isoform differs from the canonical sequence as follows:
     188-227: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 1616Mitochondrion Potential
Chain17 – 826810Zinc phosphodiesterase ELAC protein 2
PRO_0000155828

Amino acid modifications

Modified residue1991Phosphoserine Ref.7
Modified residue2081Phosphoserine By similarity

Natural variations

Alternative sequence1 – 372372Missing in isoform 3.
VSP_009168
Alternative sequence1 – 9494Missing in isoform 2.
VSP_009169
Alternative sequence188 – 22740Missing in isoform 4.
VSP_043449
Alternative sequence373 – 40634NCASV…SFRCK → MRTVPQFTTFAATRFKPSST SSTRTSSPCSPVSA in isoform 3.
VSP_009170
Alternative sequence554 – 59542GLPSI…YHNQC → VSVGLDHKAGAWRRHCHVEL ALWLRLFLRFQTCPELLLLI SG in isoform 2.
VSP_009171
Alternative sequence596 – 826231Missing in isoform 2.
VSP_009172
Natural variant521S → F.
Corresponds to variant rs9895963 [ dbSNP | Ensembl ].
VAR_038210
Natural variant1541F → L in COXPD17. Ref.20
VAR_070844
Natural variant2111R → Q in HPC2. Ref.14
VAR_017425
Natural variant2171S → L in HPC2; does not affect the enzymatic activity. Ref.1 Ref.3 Ref.5 Ref.6 Ref.12 Ref.14 Ref.15 Ref.16 Ref.18 Ref.19
Corresponds to variant rs4792311 [ dbSNP | Ensembl ].
VAR_017426
Natural variant4231L → F in COXPD17. Ref.20
VAR_070845
Natural variant4361D → N.
Corresponds to variant rs3760317 [ dbSNP | Ensembl ].
VAR_038211
Natural variant4871G → R in HPC2. Ref.14
VAR_017427
Natural variant5201T → I in COXPD17. Ref.20
VAR_070846
Natural variant5411A → T in HPC2; does not affect the enzymatic activity. Ref.1 Ref.6 Ref.12 Ref.14 Ref.15 Ref.16 Ref.18
Corresponds to variant rs34152967 [ dbSNP | Ensembl ].
VAR_017428
Natural variant6221E → V in HPC2; higher frequency in prostate cancer cases. Ref.13
Corresponds to variant rs119484087 [ dbSNP | Ensembl ].
VAR_017429
Natural variant6271S → L. Ref.17
Corresponds to variant rs78105154 [ dbSNP | Ensembl ].
VAR_017430
Natural variant7811R → H in HPC2; does not affect the enzymatic activity. Ref.1 Ref.6
VAR_017431
Natural variant8061G → R in HPC2. Ref.14
VAR_017432

Experimental info

Sequence conflict1651V → M in AK001392. Ref.2
Sequence conflict4061Missing in AK001392. Ref.2
Sequence conflict5921H → Y in AK001392. Ref.2
Sequence conflict7541F → L in AK001392. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 16, 2004. Version 2.
Checksum: 4AE701C755EC7339

FASTA82692,219
        10         20         30         40         50         60 
MWALCSLLRS AAGRTMSQGR TISQAPARRE RPRKDPLRHL RTREKRGPSG CSGGPNTVYL 

        70         80         90        100        110        120 
QVVAAGSRDS GAALYVFSEF NRYLFNCGEG VQRLMQEHKL KVARLDNIFL TRMHWSNVGG 

       130        140        150        160        170        180 
LSGMILTLKE TGLPKCVLSG PPQLEKYLEA IKIFSGPLKG IELAVRPHSA PEYEDETMTV 

       190        200        210        220        230        240 
YQIPIHSEQR RGKHQPWQSP ERPLSRLSPE RSSDSESNEN EPHLPHGVSQ RRGVRDSSLV 

       250        260        270        280        290        300 
VAFICKLHLK RGNFLVLKAK EMGLPVGTAA IAPIIAAVKD GKSITHEGRE ILAEELCTPP 

       310        320        330        340        350        360 
DPGAAFVVVE CPDESFIQPI CENATFQRYQ GKADAPVALV VHMAPASVLV DSRYQQWMER 

       370        380        390        400        410        420 
FGPDTQHLVL NENCASVHNL RSHKIQTQLN LIHPDIFPLL TSFRCKKEGP TLSVPMVQGE 

       430        440        450        460        470        480 
CLLKYQLRPR REWQRDAIIT CNPEEFIVEA LQLPNFQQSV QEYRRSAQDG PAPAEKRSQY 

       490        500        510        520        530        540 
PEIIFLGTGS AIPMKIRNVS ATLVNISPDT SLLLDCGEGT FGQLCRHYGD QVDRVLGTLA 

       550        560        570        580        590        600 
AVFVSHLHAD HHTGLPSILL QRERALASLG KPLHPLLVVA PNQLKAWLQQ YHNQCQEVLH 

       610        620        630        640        650        660 
HISMIPAKCL QEGAEISSPA VERLISSLLR TCDLEEFQTC LVRHCKHAFG CALVHTSGWK 

       670        680        690        700        710        720 
VVYSGDTMPC EALVRMGKDA TLLIHEATLE DGLEEEAVEK THSTTSQAIS VGMRMNAEFI 

       730        740        750        760        770        780 
MLNHFSQRYA KVPLFSPNFS EKVGVAFDHM KVCFGDFPTM PKLIPPLKAL FAGDIEEMEE 

       790        800        810        820 
RREKRELRQV RAALLSRELA GGLEDGEPQQ KRAHTEEPQA KKVRAQ 

« Hide

Isoform 2 [UniParc].

Checksum: C1C61F066EE55707
Show »

FASTA50156,095
Isoform 3 [UniParc].

Checksum: 8A85498B4B0BFDED
Show »

FASTA45450,615
Isoform 4 [UniParc].

Checksum: 783F20F15CB91BAC
Show »

FASTA78687,564

References

« Hide 'large scale' references
[1]"A candidate prostate cancer susceptibility gene at chromosome 17p."
Tavtigian S.V., Simard J., Teng D.H.F., Abtin V., Baumgard M., Beck A., Camp N.J., Carillo A.R., Chen Y., Dayananth P., Desrochers M., Dumont M., Farnham J.M., Frank D., Frye C., Ghaffari S., Gupte J.S., Hu R. expand/collapse author list , Iliev D., Janecki T., Kort E.N., Laity K.E., Leavitt A., Leblanc G., McArthur-Morrison J., Pederson A., Penn B., Peterson K.T., Reid J.E., Richards S., Schroeder M., Smith R., Snyder S.C., Swedlund B., Swensen J., Thomas A., Tranchant M., Woodland A.-M., Labrie F., Skolnick M.H., Neuhausen S., Rommens J., Cannon-Albright L.A.
Nat. Genet. 27:172-180(2001) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-199, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"Association of HPC2/ELAC2 genotypes and prostate cancer."
Rebbeck T.R., Walker A.H., Zeigler-Johnson C., Weisburg S., Martin A.-M., Nathanson K.L., Wein A.J., Malkowicz S.B.
Am. J. Hum. Genet. 67:1014-1019(2000) [PubMed] [Europe PMC] [Abstract]
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]"Role of HPC2/ELAC2 in hereditary prostate cancer."
Wang L., McDonnell S.K., Elkins D.A., Slager S.L., Christensen E., Marks A.F., Cunningham J.M., Peterson B.J., Jacobsen S.J., Cerhan J.R., Blute M.L., Schaid D.J., Thibodeau S.N.
Cancer Res. 61:6494-6499(2001) [PubMed] [Europe PMC] [Abstract]
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]"ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer."
Severi G., Giles G.G., Southey M.C., Tesoriero A., Tilley W., Neufing P., Morris H., English D.R., McCredie M.R., Boyle P., Hopper J.L.
J. Natl. Cancer Inst. 95:818-824(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HPC2 LEU-217 AND THR-541.
[19]"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S. expand/collapse author list , Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K.
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] HPC2 LEU-217.
[20]"ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy."
Haack T.B., Kopajtich R., Freisinger P., Wieland T., Rorbach J., Nicholls T.J., Baruffini E., Walther A., Danhauser K., Zimmermann F.A., Husain R.A., Schum J., Mundy H., Ferrero I., Strom T.M., Meitinger T., Taylor R.W., Minczuk M., Mayr J.A., Prokisch H.
Am. J. Hum. Genet. 93:211-223(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS COXPD17 LEU-154; PHE-423 AND ILE-520.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001159434.1. NM_001165962.1.
NP_060597.4. NM_018127.6.
NP_776065.1. NM_173717.1.
UniGeneHs.434232.

3D structure databases

ProteinModelPortalQ9BQ52.
SMRQ9BQ52. Positions 59-158, 481-754.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121937. 22 interactions.
IntActQ9BQ52. 5 interactions.
MINTMINT-1401619.
STRING9606.ENSP00000337445.

PTM databases

PhosphoSiteQ9BQ52.

Polymorphism databases

DMDM41017788.

Proteomic databases

PaxDbQ9BQ52.
PRIDEQ9BQ52.

Protocols and materials databases

DNASU60528.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000338034; ENSP00000337445; ENSG00000006744. [Q9BQ52-1]
ENST00000426905; ENSP00000405223; ENSG00000006744. [Q9BQ52-4]
GeneID60528.
KEGGhsa:60528.
UCSCuc002gnv.4. human. [Q9BQ52-3]
uc002gnz.4. human. [Q9BQ52-1]
uc010vvr.2. human. [Q9BQ52-4]

Organism-specific databases

CTD60528.
GeneCardsGC17M012894.
HGNCHGNC:14198. ELAC2.
HPAHPA019535.
MIM176807. phenotype.
605367. gene.
614731. phenotype.
615440. phenotype.
neXtProtNX_Q9BQ52.
Orphanet369913. Combined oxidative phosphorylation defect type 17.
1331. Familial prostate cancer.
PharmGKBPA27739.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1234.
HOGENOMHOG000007499.
HOVERGENHBG050042.
InParanoidQ9BQ52.
KOK00784.
OMAKAWLQQY.
OrthoDBEOG7B05CB.
PhylomeDBQ9BQ52.
TreeFamTF105797.

Enzyme and pathway databases

BRENDA3.1.26.11. 2681.

Gene expression databases

ArrayExpressQ9BQ52.
BgeeQ9BQ52.
CleanExHS_ELAC2.
GenevestigatorQ9BQ52.

Family and domain databases

Gene3D3.60.15.10. 3 hits.
InterProIPR001279. Beta-lactamas-like.
IPR027794. tRNase_Z_dom.
[Graphical view]
PfamPF13691. Lactamase_B_4. 1 hit.
[Graphical view]
SMARTSM00849. Lactamase_B. 1 hit.
[Graphical view]
SUPFAMSSF56281. SSF56281. 3 hits.
ProtoNetSearch...

Other

ChiTaRSELAC2. human.
GeneWikiELAC2.
GenomeRNAi60528.
NextBio65429.
PROQ9BQ52.
SOURCESearch...

Entry information

Entry nameRNZ2_HUMAN
AccessionPrimary (citable) accession number: Q9BQ52
Secondary accession number(s): B4DPL9 expand/collapse secondary AC list , Q6IA94, Q9HAS8, Q9HAS9, Q9NVT1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: January 16, 2004
Last modified: April 16, 2014
This is version 120 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM