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UniProtKB - Q5T890 (ER6L2_HUMAN)

Entry version 133 (31 Jul 2019)
Sequence version 2 (14 May 2014)
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Protein

DNA excision repair protein ERCC-6-like 2

Gene

ERCC6L2

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

May be involved in early DNA damage response.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi159 – 166ATPPROSITE-ProRule annotation8

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionDNA-binding, Helicase, Hydrolase
Biological processDNA damage, DNA repair
LigandATP-binding, Nucleotide-binding

<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:
DNA excision repair protein ERCC-6-like 2 (EC:3.6.4.-)
Alternative name(s):
DNA repair and recombination protein RAD26-like
<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:ERCC6L2
Synonyms:C9orf102, RAD26L
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:26922 ERCC6L2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615667 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q5T890

<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

Cytoplasm, Cytoskeleton, 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

Bone marrow failure syndrome 2 (BMFS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		375748

MalaCards human disease database

More...MalaCardsi		ERCC6L2
MIMi615715 phenotype

Open Targets

More...OpenTargetsi		ENSG00000182150

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

More...Orphaneti		401764 Pancytopenia-developmental delay syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134961240

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ERCC6L2

Domain mapping of disease mutations (DMDM)

More...DMDMi		74756405

<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 polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003260861 – 1561DNA excision repair protein ERCC-6-like 2Add BLAST1561

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 residuei991PhosphoserineBy similarity1
Modified residuei994PhosphoserineBy similarity1
Modified residuei1384PhosphoserineCombined sources1
Modified residuei1387PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by NEK6.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q5T890

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q5T890

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

More...PaxDbi		Q5T890

PeptideAtlas

More...PeptideAtlasi		Q5T890

PRoteomics IDEntifications database

More...PRIDEi		Q5T890

ProteomicsDB human proteome resource

More...ProteomicsDBi		64714 [Q5T890-1]
64715 [Q5T890-2]
652

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q5T890

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q5T890

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

More...PhosphoSitePlusi		Q5T890

<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

Expressed in bone marrow (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000182150 Expressed in 151 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q5T890 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5T890 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA021260

<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

Isoform 2 interacts with NEK6.

1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		131996, 2 interactors

Protein interaction database and analysis system

More...IntActi		Q5T890, 7 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000288985

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11561
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q5T890

Database of comparative protein structure models

More...ModBasei		Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini146 – 332Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST187
Domaini523 – 673Helicase C-terminalPROSITE-ProRule annotationAdd BLAST151

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi283 – 286DEAH box4

<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 SNF2/RAD54 helicase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0387 Eukaryota
ENOG410XP4Z LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161328

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000111653

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5T890

KEGG Orthology (KO)

More...KOi		K20098

Identification of Orthologs from Complete Genome Data

More...OMAi		LFDWVAP

Database of Orthologous Groups

More...OrthoDBi		372069at2759

TreeFam database of animal gene trees

More...TreeFami		TF351516

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.10810, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR029256 Heliccase-ass-bd
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
PF14773 VIGSSK, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00690 DEAH_ATP_HELICASE, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

<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 (3+)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.

This entry describes 3 <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 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5T890-1) [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
MQPGSAPPPG RMDPSAPQPR AETSGKDIWH PGERCLAPSP DNGKLCEASI 
        60         70         80         90        100
KSITVDENGK SFAVVLYADF QERKIPLKQL QEVKFVKDCP RNLIFDDEDL 
       110        120        130        140        150
EKPYFPNRKF PSSSVAFKLS DNGDSIPYTI NRYLRDYQRE GTRFLYGHYI 
       160        170        180        190        200
HGGGCILGDD MGLGKTVQVI SFLAAVLHKK GTREDIENNM PEFLLRSMKK 
       210        220        230        240        250
EPLSSTAKKM FLIVAPLSVL YNWKDELDTW GYFRVTVLHG NRKDNELIRV 
       260        270        280        290        300
KQRKCEIALT TYETLRLCLD ELNSLEWSAV IVDEAHRIKN PKARVTEVMK 
       310        320        330        340        350
ALKCNVRIGL TGTILQNNMK ELWCVMDWAV PGLLGSGTYF KKQFSDPVEH 
       360        370        380        390        400
GQRHTATKRE LATGRKAMQR LAKKMSGWFL RRTKTLIKDQ LPKKEDRMVY 
       410        420        430        440        450
CSLTDFQKAV YQTVLETEDV TLILQSSEPC TCRSGQKRRN CCYKTNSHGE 
       460        470        480        490        500
TVKTLYLSYL TVLQKVANHV ALLQAASTSK QQETLIKRIC DQVFSRFPDF 
       510        520        530        540        550
VQKSKDAAFE TLSDPKYSGK MKVLQQLLNH CRKNRDKVLL FSFSTKLLDV 
       560        570        580        590        600
LQQYCMASGL DYRRLDGSTK SEERLKIVKE FNSTQDVNIC LVSTMAGGLG 
       610        620        630        640        650
LNFVGANVVV LFDPTWNPAN DLQAIDRAYR IGQCRDVKVL RLISLGTVEE 
       660        670        680        690        700
IMYLRQIYKQ QLHCVVVGSE NAKRYFEAVQ GSKEHQGELF GIHNLFKFRS 
       710        720        730        740        750
QGSCLTKDIL EREGQVEAGI MTATTWLKEG PPAHKLEMPR QPDCQECRGT 
       760        770        780        790        800
EQAAEPLAKE ACDLCSDFSD EEPVGATGIK TAKNKAPDSS KASSSPGQLT 
       810        820        830        840        850
LLQCGFSKLL ETKCKAVEDS DGNTASDDES SDEQPTCLST EAKDAGCEKN 
       860        870        880        890        900
QDSLGTSKHQ KLDNILNPKE KHIFYKSEKI LEQNISSKSD EKKIKNTDKH 
       910        920        930        940        950
CILQNVTESE DSDVICPTQY TTERFPDNSI RFKPPLEGSE DSETEHTVKT 
       960        970        980        990       1000
RNNDNSRNTD DKRNGIISKK LSPENTTLKS ILKRKGTSDI SDESDDIEIS 
      1010       1020       1030       1040       1050
SKSRVRKRAS SLRFKRIKET KKELHNSPKT MNKTNQVYAA NEDHNSQFID 
      1060       1070       1080       1090       1100
DYSSSDESLS VSHFSFSKQS HRPRTIRDRT SFSSKLPSHN KKNSTFIPRK 
      1110       1120       1130       1140       1150
PMKCSNEKVV NQEQSYESMD KFLDGVQEVA YIHSNQNVIG SSKAENHMSR 
      1160       1170       1180       1190       1200
WAAHDVFELK QFSQLPANIA VCSSKTYKEK VDADTLPHTK KGQQPSEGSI 
      1210       1220       1230       1240       1250
SLPLYISNPV NQKKKKVYHT NQTTFIIGET PKGIRRKQFE EMASYFNSSS 
      1260       1270       1280       1290       1300
VNEFAKHITN ATSEERQKML RDFYASQYPE VKEFFVDSVS QFNNSSFEKG 
      1310       1320       1330       1340       1350
EQRTRKKSDK RESLIKPRLS DSETLSFKDS TNKISQVCSL KTYKRKSVKF 
      1360       1370       1380       1390       1400
QNHISYREEV FFNDAETKKS PVSSTQEIDS GKNSQASEDT VTSRSLNSES 
      1410       1420       1430       1440       1450
ETRERRLENT MKDQQDLTRT GISRKEPLLK LENKKIENPV LENTSVISLL 
      1460       1470       1480       1490       1500
GDTSILDDLF KSHGNSPTQL PKKVLSGPME KAKQRPKDFW DILNEQNDES 
      1510       1520       1530       1540       1550
LSKLTDLAVI ETLCEKAPLA APFKRREEPA TSLWKSNEKF LWKKFSPSDT 
      1560 
DENATNTQST T
Note: Gene prediction based on partial EST data.
Length:1,561
Mass (Da):177,127
Last modified:May 14, 2014 - 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:i0322C679063DD958
GO
Isoform 2 (identifier: Q5T890-2) [UniParc]FASTAAdd to basket
Also known as: RAD26L

The sequence of this isoform differs from the canonical sequence as follows:
     712-712: R → V
     713-1561: Missing.

Show »
Length:712
Mass (Da):81,094
Checksum:iFD3C90B13023D89B
GO
Isoform 3 (identifier: Q5T890-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-189: Missing.
     190-209: MPEFLLRSMKKEPLSSTAKK → MQKERELQETIYFKNTWPAC
     712-712: R → V
     713-1561: Missing.

Show »
Length:523
Mass (Da):60,174
Checksum:i3B93B452A2D0E203
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BXQ9H7BXQ9_HUMAN
DNA excision repair protein ERCC-6-...
ERCC6L2
522Annotation score:

Annotation score:2 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>
H0Y3T7H0Y3T7_HUMAN
DNA excision repair protein ERCC-6-...
ERCC6L2
182Annotation 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>
F2Z2R4F2Z2R4_HUMAN
DNA excision repair protein ERCC-6-...
ERCC6L2
365Annotation 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>
X6RE28X6RE28_HUMAN
DNA excision repair protein ERCC-6-...
ERCC6L2
82Annotation 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>
S4R327S4R327_HUMAN
DNA excision repair protein ERCC-6-...
ERCC6L2
54Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH22957 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB97543 differs from that shown. Reason: Frameshift at position 135.Curated
The sequence CAB97543 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence EAW92640 differs from that shown. Reason: Erroneous gene model prediction.Curated

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 conflicti1551 – 1555DENAT → A in BAC04478 (PubMed:14702039).Curated5

Natural variant

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_039987592V → A. Corresponds to variant dbSNP:rs2274654Ensembl.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_0546661 – 189Missing in isoform 3. 1 PublicationAdd BLAST189
Alternative sequenceiVSP_054667190 – 209MPEFL…STAKK → MQKERELQETIYFKNTWPAC in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_054668712R → V in isoform 2 and isoform 3. 2 Publications1
Alternative sequenceiVSP_054669713 – 1561Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST849

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
AL159167 Genomic DNA No translation available.
AL161454 Genomic DNA No translation available.
CH471174 Genomic DNA Translation: EAW92636.1
CH471174 Genomic DNA Translation: EAW92640.1 Sequence problems.
BC022957 mRNA Translation: AAH22957.3 Different initiation.
BC035183 mRNA Translation: AAH35183.1
BC140702 mRNA Translation: AAI40703.1
AL389953 mRNA Translation: CAB97543.1 Sequence problems.
AK095025 mRNA Translation: BAC04478.1

NCBI Reference Sequences

More...RefSeqi		NP_001010895.1, NM_001010895.2
NP_064592.2, NM_020207.4 [Q5T890-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000288985; ENSP00000288985; ENSG00000182150 [Q5T890-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		375748

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:375748

UCSC genome browser

More...UCSCi		uc004avt.5 human [Q5T890-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL159167 Genomic DNA No translation available.
AL161454 Genomic DNA No translation available.
CH471174 Genomic DNA Translation: EAW92636.1
CH471174 Genomic DNA Translation: EAW92640.1 Sequence problems.
BC022957 mRNA Translation: AAH22957.3 Different initiation.
BC035183 mRNA Translation: AAH35183.1
BC140702 mRNA Translation: AAI40703.1
AL389953 mRNA Translation: CAB97543.1 Sequence problems.
AK095025 mRNA Translation: BAC04478.1
RefSeqiNP_001010895.1, NM_001010895.2
NP_064592.2, NM_020207.4 [Q5T890-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6HQ9X-ray1.98A/B26-92[»]
SMRiQ5T890
ModBaseiSearch...

Protein-protein interaction databases

BioGridi131996, 2 interactors
IntActiQ5T890, 7 interactors
STRINGi9606.ENSP00000288985

PTM databases

CarbonylDBiQ5T890
iPTMnetiQ5T890
PhosphoSitePlusiQ5T890

Polymorphism and mutation databases

BioMutaiERCC6L2
DMDMi74756405

Proteomic databases

EPDiQ5T890
jPOSTiQ5T890
PaxDbiQ5T890
PeptideAtlasiQ5T890
PRIDEiQ5T890
ProteomicsDBi64714 [Q5T890-1]
64715 [Q5T890-2]
652

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		375748
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000288985; ENSP00000288985; ENSG00000182150 [Q5T890-2]
GeneIDi375748
KEGGihsa:375748
UCSCiuc004avt.5 human [Q5T890-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		375748
DisGeNETi375748

GeneCards: human genes, protein and diseases

More...GeneCardsi		ERCC6L2
HGNCiHGNC:26922 ERCC6L2
HPAiHPA021260
MalaCardsiERCC6L2
MIMi615667 gene
615715 phenotype
neXtProtiNX_Q5T890
OpenTargetsiENSG00000182150
Orphaneti401764 Pancytopenia-developmental delay syndrome
PharmGKBiPA134961240

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0387 Eukaryota
ENOG410XP4Z LUCA
GeneTreeiENSGT00940000161328
HOGENOMiHOG000111653
InParanoidiQ5T890
KOiK20098
OMAiLFDWVAP
OrthoDBi372069at2759
TreeFamiTF351516

Miscellaneous databases

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

More...ChiTaRSi		ERCC6L2 human

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

More...GenomeRNAii		375748

Protein Ontology

More...PROi		PR:Q5T890

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000182150 Expressed in 151 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ5T890 baseline and differential
GenevisibleiQ5T890 HS

Family and domain databases

Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR029256 Heliccase-ass-bd
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
PF14773 VIGSSK, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00690 DEAH_ATP_HELICASE, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

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 nameiER6L2_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: Q5T890
Secondary accession number(s): A4D997
, B2RTP8, Q49AM9, Q5T892, Q8N663, Q8N9D0, Q9NPM7
<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: March 18, 2008
Last sequence update: May 14, 2014
Last modified: July 31, 2019
This is version 133 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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