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Entry version 171 (18 Sep 2019)
Sequence version 2 (16 Jan 2004)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>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 EC:3.1.26.11

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionEndonuclease, Hydrolase, Nuclease
Biological processtRNA processing
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.1.26.11 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6784531 tRNA processing in the nucleus
R-HSA-6785470 tRNA processing in the mitochondrion
R-HSA-8868766 rRNA processing in the mitochondrion

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ELAC2
Synonyms:HPC2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14198 ELAC2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605367 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BQ52

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Prostate cancer, hereditary, 2 (HPC2)11 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017425211R → Q in HPC2. 1 PublicationCorresponds to variant dbSNP:rs148419785Ensembl.1
Natural variantiVAR_017426217S → L in HPC2; does not affect the enzymatic activity. 10 PublicationsCorresponds to variant dbSNP:rs4792311EnsemblClinVar.1
Natural variantiVAR_017427487G → R in HPC2. 1 PublicationCorresponds to variant dbSNP:rs752234492Ensembl.1
Natural variantiVAR_017428541A → T in HPC2; does not affect the enzymatic activity. 7 PublicationsCorresponds to variant dbSNP:rs5030739EnsemblClinVar.1
Natural variantiVAR_017429622E → V in HPC2; higher frequency in prostate cancer cases. 1 PublicationCorresponds to variant dbSNP:rs119484087EnsemblClinVar.1
Natural variantiVAR_017431781R → H in HPC2; does not affect the enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs119484086EnsemblClinVar.1
Natural variantiVAR_017432806G → R in HPC2. 1 PublicationCorresponds to variant dbSNP:rs770669443Ensembl.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070844154F → L in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515465EnsemblClinVar.1
Natural variantiVAR_070845423L → F in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515466EnsemblClinVar.1
Natural variantiVAR_070846520T → I in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515463EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease, Proto-oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
60528

MalaCards human disease database

More...
MalaCardsi
ELAC2
MIMi176807 phenotype
614731 phenotype
615440 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000006744

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
369913 Combined oxidative phosphorylation defect type 17
1331 Familial prostate cancer

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27739

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ELAC2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
41017788

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 16MitochondrionSequence analysisAdd BLAST16
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000015582817 – 826Zinc phosphodiesterase ELAC protein 2Add BLAST810

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei199PhosphoserineCombined sources1
Modified residuei208PhosphoserineCombined sources1
Modified residuei212PhosphoserineCombined sources1
Modified residuei229PhosphoserineCombined sources1
Modified residuei618PhosphoserineCombined sources1
Modified residuei736PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9BQ52

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9BQ52

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9BQ52

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BQ52

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9BQ52

PeptideAtlas

More...
PeptideAtlasi
Q9BQ52

PRoteomics IDEntifications database

More...
PRIDEi
Q9BQ52

ProteomicsDB human proteome resource

More...
ProteomicsDBi
78627 [Q9BQ52-1]
78628 [Q9BQ52-2]
78629 [Q9BQ52-3]
78630 [Q9BQ52-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BQ52

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9BQ52

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9BQ52

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000006744 Expressed in 229 organ(s), highest expression level in lower esophagus muscularis layer

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BQ52 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BQ52 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA019535

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer (By similarity).

Interacts with PTCD1.

By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121937, 62 interactors

Protein interaction database and analysis system

More...
IntActi
Q9BQ52, 20 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000337445

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RNase Z family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2121 Eukaryota
COG1234 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00730000111191

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007499

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BQ52

KEGG Orthology (KO)

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KOi
K00784

Identification of Orthologs from Complete Genome Data

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OMAi
YICQLKP

Database of Orthologous Groups

More...
OrthoDBi
454909at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BQ52

TreeFam database of animal gene trees

More...
TreeFami
TF105797

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.60.15.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001279 Metallo-B-lactamas
IPR036866 RibonucZ/Hydroxyglut_hydro
IPR027794 tRNase_Z_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12706 Lactamase_B_2, 1 hit
PF13691 Lactamase_B_4, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56281 SSF56281, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G5E9D5G5E9D5_HUMAN
ElaC homolog 2 (E. coli), isoform C...
ELAC2 hCG_29734
807Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7ES68E7ES68_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
626Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QL08J3QL08_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
132Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GYS7V9GYS7_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
242Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2I4H7C2I4_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
286Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GZ72V9GZ72_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
158Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QRS2J3QRS2_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
122Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GYU5V9GYU5_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
124Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QLK4J3QLK4_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
148Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QQT1J3QQT1_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
45Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs9895963EnsemblClinVar.1
Natural variantiVAR_070844154F → L in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515465EnsemblClinVar.1
Natural variantiVAR_017425211R → Q in HPC2. 1 PublicationCorresponds to variant dbSNP:rs148419785Ensembl.1
Natural variantiVAR_017426217S → L in HPC2; does not affect the enzymatic activity. 10 PublicationsCorresponds to variant dbSNP:rs4792311EnsemblClinVar.1
Natural variantiVAR_070845423L → F in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515466EnsemblClinVar.1
Natural variantiVAR_038211436D → N. Corresponds to variant dbSNP:rs3760317Ensembl.1
Natural variantiVAR_017427487G → R in HPC2. 1 PublicationCorresponds to variant dbSNP:rs752234492Ensembl.1
Natural variantiVAR_070846520T → I in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515463EnsemblClinVar.1
Natural variantiVAR_017428541A → T in HPC2; does not affect the enzymatic activity. 7 PublicationsCorresponds to variant dbSNP:rs5030739EnsemblClinVar.1
Natural variantiVAR_017429622E → V in HPC2; higher frequency in prostate cancer cases. 1 PublicationCorresponds to variant dbSNP:rs119484087EnsemblClinVar.1
Natural variantiVAR_017430627S → L1 PublicationCorresponds to variant dbSNP:rs78105154Ensembl.1
Natural variantiVAR_017431781R → H in HPC2; does not affect the enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs119484086EnsemblClinVar.1
Natural variantiVAR_017432806G → R in HPC2. 1 PublicationCorresponds to variant dbSNP:rs770669443Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11164.1 [Q9BQ52-1]
CCDS54093.1 [Q9BQ52-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001159434.1, NM_001165962.1 [Q9BQ52-4]
NP_060597.4, NM_018127.6 [Q9BQ52-1]
NP_776065.1, NM_173717.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000338034; ENSP00000337445; ENSG00000006744 [Q9BQ52-1]
ENST00000426905; ENSP00000405223; ENSG00000006744 [Q9BQ52-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
60528

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:60528

UCSC genome browser

More...
UCSCi
uc002gnz.5 human [Q9BQ52-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi121937, 62 interactors
IntActiQ9BQ52, 20 interactors
STRINGi9606.ENSP00000337445

PTM databases

iPTMnetiQ9BQ52
PhosphoSitePlusiQ9BQ52
SwissPalmiQ9BQ52

Polymorphism and mutation databases

BioMutaiELAC2
DMDMi41017788

Proteomic databases

EPDiQ9BQ52
jPOSTiQ9BQ52
MassIVEiQ9BQ52
MaxQBiQ9BQ52
PaxDbiQ9BQ52
PeptideAtlasiQ9BQ52
PRIDEiQ9BQ52
ProteomicsDBi78627 [Q9BQ52-1]
78628 [Q9BQ52-2]
78629 [Q9BQ52-3]
78630 [Q9BQ52-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
60528
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

Comparative Toxicogenomics Database

More...
CTDi
60528
DisGeNETi60528

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ELAC2
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

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2121 Eukaryota
COG1234 LUCA
GeneTreeiENSGT00730000111191
HOGENOMiHOG000007499
InParanoidiQ9BQ52
KOiK00784
OMAiYICQLKP
OrthoDBi454909at2759
PhylomeDBiQ9BQ52
TreeFamiTF105797

Enzyme and pathway databases

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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ELAC2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ELAC2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
60528

Pharos

More...
Pharosi
Q9BQ52

Protein Ontology

More...
PROi
PR:Q9BQ52

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000006744 Expressed in 229 organ(s), highest expression level in lower esophagus muscularis layer
ExpressionAtlasiQ9BQ52 baseline and differential
GenevisibleiQ9BQ52 HS

Family and domain databases

Gene3Di3.60.15.10, 1 hit
InterProiView protein in InterPro
IPR001279 Metallo-B-lactamas
IPR036866 RibonucZ/Hydroxyglut_hydro
IPR027794 tRNase_Z_dom
PfamiView protein in Pfam
PF12706 Lactamase_B_2, 1 hit
PF13691 Lactamase_B_4, 1 hit
SUPFAMiSSF56281 SSF56281, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRNZ2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BQ52
Secondary accession number(s): B4DPL9
, Q6IA94, Q9HAS8, Q9HAS9, Q9NVT1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: January 16, 2004
Last modified: September 18, 2019
This is version 171 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
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