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Protein

Zinc phosphodiesterase ELAC protein 2

Gene

ELAC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

  • mitochondrial tRNA 3'-trailer cleavage, endonucleolytic Source: UniProtKB
  • mitochondrial tRNA processing Source: Reactome
  • tRNA 3'-end processing Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Hydrolase, Nuclease

Keywords - Biological processi

tRNA processing

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:HS12017-MONOMER.
BRENDAi3.1.26.11. 2681.
ReactomeiR-HSA-6784531. tRNA processing in the nucleus.
R-HSA-6785470. tRNA processing in the mitochondrion.
R-HSA-8868766. rRNA processing in the mitochondrion.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:14198. ELAC2.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial matrix Source: Reactome
  • mitochondrial nucleoid Source: Ensembl
  • mitochondrion Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Prostate cancer, hereditary, 2 (HPC2)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614731
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017425211R → Q in HPC2. 1 PublicationCorresponds to variant rs148419785dbSNPEnsembl.1
Natural variantiVAR_017426217S → L in HPC2; does not affect the enzymatic activity. 10 PublicationsCorresponds to variant rs4792311dbSNPEnsembl.1
Natural variantiVAR_017427487G → R in HPC2. 1 PublicationCorresponds to variant rs752234492dbSNPEnsembl.1
Natural variantiVAR_017428541A → T in HPC2; does not affect the enzymatic activity. 7 PublicationsCorresponds to variant rs34152967dbSNPEnsembl.1
Natural variantiVAR_017429622E → V in HPC2; higher frequency in prostate cancer cases. 1 PublicationCorresponds to variant rs119484087dbSNPEnsembl.1
Natural variantiVAR_017431781R → H in HPC2; does not affect the enzymatic activity. 2 PublicationsCorresponds to variant rs119484086dbSNPEnsembl.1
Natural variantiVAR_017432806G → R in HPC2. 1 PublicationCorresponds to variant rs770669443dbSNPEnsembl.1
Combined oxidative phosphorylation deficiency 17 (COXPD17)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:615440
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070844154F → L in COXPD17. 1 PublicationCorresponds to variant rs397515465dbSNPEnsembl.1
Natural variantiVAR_070845423L → F in COXPD17. 1 PublicationCorresponds to variant rs397515466dbSNPEnsembl.1
Natural variantiVAR_070846520T → I in COXPD17. 1 PublicationCorresponds to variant rs397515463dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

DisGeNETi60528.
MalaCardsiELAC2.
MIMi176807. phenotype.
614731. phenotype.
615440. phenotype.
OpenTargetsiENSG00000006744.
Orphaneti369913. Combined oxidative phosphorylation defect type 17.
1331. Familial prostate cancer.
PharmGKBiPA27739.

Polymorphism and mutation databases

BioMutaiELAC2.
DMDMi41017788.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 16MitochondrionSequence analysisAdd BLAST16
ChainiPRO_000015582817 – 826Zinc phosphodiesterase ELAC protein 2Add BLAST810

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei199PhosphoserineCombined sources1
Modified residuei208PhosphoserineCombined sources1
Modified residuei212PhosphoserineCombined sources1
Modified residuei229PhosphoserineCombined sources1
Modified residuei618PhosphoserineCombined sources1
Modified residuei736PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BQ52.
MaxQBiQ9BQ52.
PaxDbiQ9BQ52.
PeptideAtlasiQ9BQ52.
PRIDEiQ9BQ52.

PTM databases

iPTMnetiQ9BQ52.
PhosphoSitePlusiQ9BQ52.
SwissPalmiQ9BQ52.

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

BgeeiENSG00000006744.
CleanExiHS_ELAC2.
ExpressionAtlasiQ9BQ52. baseline and differential.
GenevisibleiQ9BQ52. HS.

Organism-specific databases

HPAiHPA019535.

Interactioni

Subunit structurei

Homodimer (By similarity). Interacts with PTCD1.By similarity1 Publication

Protein-protein interaction databases

BioGridi121937. 51 interactors.
IntActiQ9BQ52. 9 interactors.
MINTiMINT-1401619.
STRINGi9606.ENSP00000337445.

Structurei

3D structure databases

ProteinModelPortaliQ9BQ52.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RNase Z family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2121. Eukaryota.
COG1234. LUCA.
GeneTreeiENSGT00730000111191.
HOGENOMiHOG000007499.
HOVERGENiHBG050042.
InParanoidiQ9BQ52.
KOiK00784.
OMAiHNQCQEV.
OrthoDBiEOG091G028A.
PhylomeDBiQ9BQ52.
TreeFamiTF105797.

Family and domain databases

Gene3Di3.60.15.10. 3 hits.
InterProiIPR001279. Metallo-B-lactamas.
IPR027794. tRNase_Z_dom.
[Graphical view]
PfamiPF12706. Lactamase_B_2. 1 hit.
PF13691. Lactamase_B_4. 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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti165V → M in AK001392 (PubMed:14702039).Curated1
Sequence conflicti406Missing in AK001392 (PubMed:14702039).Curated1
Sequence conflicti592H → Y in AK001392 (PubMed:14702039).Curated1
Sequence conflicti754F → L in AK001392 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03821052S → F.Corresponds to variant rs9895963dbSNPEnsembl.1
Natural variantiVAR_070844154F → L in COXPD17. 1 PublicationCorresponds to variant rs397515465dbSNPEnsembl.1
Natural variantiVAR_017425211R → Q in HPC2. 1 PublicationCorresponds to variant rs148419785dbSNPEnsembl.1
Natural variantiVAR_017426217S → L in HPC2; does not affect the enzymatic activity. 10 PublicationsCorresponds to variant rs4792311dbSNPEnsembl.1
Natural variantiVAR_070845423L → F in COXPD17. 1 PublicationCorresponds to variant rs397515466dbSNPEnsembl.1
Natural variantiVAR_038211436D → N.Corresponds to variant rs3760317dbSNPEnsembl.1
Natural variantiVAR_017427487G → R in HPC2. 1 PublicationCorresponds to variant rs752234492dbSNPEnsembl.1
Natural variantiVAR_070846520T → I in COXPD17. 1 PublicationCorresponds to variant rs397515463dbSNPEnsembl.1
Natural variantiVAR_017428541A → T in HPC2; does not affect the enzymatic activity. 7 PublicationsCorresponds to variant rs34152967dbSNPEnsembl.1
Natural variantiVAR_017429622E → V in HPC2; higher frequency in prostate cancer cases. 1 PublicationCorresponds to variant rs119484087dbSNPEnsembl.1
Natural variantiVAR_017430627S → L.1 PublicationCorresponds to variant rs78105154dbSNPEnsembl.1
Natural variantiVAR_017431781R → H in HPC2; does not affect the enzymatic activity. 2 PublicationsCorresponds to variant rs119484086dbSNPEnsembl.1
Natural variantiVAR_017432806G → R in HPC2. 1 PublicationCorresponds to variant rs770669443dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0091681 – 372Missing in isoform 3. 1 PublicationAdd BLAST372
Alternative sequenceiVSP_0091691 – 94Missing in isoform 2. 1 PublicationAdd BLAST94
Alternative sequenceiVSP_043449188 – 227Missing in isoform 4. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_009170373 – 406NCASV…SFRCK → MRTVPQFTTFAATRFKPSST SSTRTSSPCSPVSA in isoform 3. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_009171554 – 595GLPSI…YHNQC → VSVGLDHKAGAWRRHCHVEL ALWLRLFLRFQTCPELLLLI SG in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_009172596 – 826Missing in isoform 2. 1 PublicationAdd BLAST231

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.
UCSCiuc002gnz.5. human. [Q9BQ52-1]

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.
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.

3D structure databases

ProteinModelPortaliQ9BQ52.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121937. 51 interactors.
IntActiQ9BQ52. 9 interactors.
MINTiMINT-1401619.
STRINGi9606.ENSP00000337445.

PTM databases

iPTMnetiQ9BQ52.
PhosphoSitePlusiQ9BQ52.
SwissPalmiQ9BQ52.

Polymorphism and mutation databases

BioMutaiELAC2.
DMDMi41017788.

Proteomic databases

EPDiQ9BQ52.
MaxQBiQ9BQ52.
PaxDbiQ9BQ52.
PeptideAtlasiQ9BQ52.
PRIDEiQ9BQ52.

Protocols and materials databases

DNASUi60528.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338034; ENSP00000337445; ENSG00000006744. [Q9BQ52-1]
ENST00000426905; ENSP00000405223; ENSG00000006744. [Q9BQ52-4]
GeneIDi60528.
KEGGihsa:60528.
UCSCiuc002gnz.5. human. [Q9BQ52-1]

Organism-specific databases

CTDi60528.
DisGeNETi60528.
GeneCardsiELAC2.
HGNCiHGNC:14198. ELAC2.
HPAiHPA019535.
MalaCardsiELAC2.
MIMi176807. phenotype.
605367. gene.
614731. phenotype.
615440. phenotype.
neXtProtiNX_Q9BQ52.
OpenTargetsiENSG00000006744.
Orphaneti369913. Combined oxidative phosphorylation defect type 17.
1331. Familial prostate cancer.
PharmGKBiPA27739.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2121. Eukaryota.
COG1234. LUCA.
GeneTreeiENSGT00730000111191.
HOGENOMiHOG000007499.
HOVERGENiHBG050042.
InParanoidiQ9BQ52.
KOiK00784.
OMAiHNQCQEV.
OrthoDBiEOG091G028A.
PhylomeDBiQ9BQ52.
TreeFamiTF105797.

Enzyme and pathway databases

BioCyciZFISH:HS12017-MONOMER.
BRENDAi3.1.26.11. 2681.
ReactomeiR-HSA-6784531. tRNA processing in the nucleus.
R-HSA-6785470. tRNA processing in the mitochondrion.
R-HSA-8868766. rRNA processing in the mitochondrion.

Miscellaneous databases

ChiTaRSiELAC2. human.
GeneWikiiELAC2.
GenomeRNAii60528.
PROiQ9BQ52.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000006744.
CleanExiHS_ELAC2.
ExpressionAtlasiQ9BQ52. baseline and differential.
GenevisibleiQ9BQ52. HS.

Family and domain databases

Gene3Di3.60.15.10. 3 hits.
InterProiIPR001279. Metallo-B-lactamas.
IPR027794. tRNase_Z_dom.
[Graphical view]
PfamiPF12706. Lactamase_B_2. 1 hit.
PF13691. Lactamase_B_4. 1 hit.
[Graphical view]
SUPFAMiSSF56281. SSF56281. 3 hits.
ProtoNetiSearch...

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 2, 2016
This is version 148 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.