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UniProtKB - Q03468 (ERCC6_HUMAN)

Entry version 204 (13 Feb 2019)
Sequence version 1 (01 Oct 1993)
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Protein

DNA excision repair protein ERCC-6

Gene

ERCC6

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

Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions.4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi532 – 539ATPPROSITE-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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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, Transcription, Transcription regulation
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-73762 RNA Polymerase I Transcription Initiation

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q03468

<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 (EC:3.6.4.-)
Alternative name(s):
ATP-dependent helicase ERCC6
Cockayne syndrome protein CSB
<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:ERCC6
Synonyms:CSB
<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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000225830.10
HostDB:ENSG00000258838.5

Human Gene Nomenclature Database

More...HGNCi		HGNC:3438 ERCC6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609413 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q03468

<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

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

Cockayne syndrome B (CSB)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.
See also OMIM:133540
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_001218670R → W in CSB. 2 PublicationsCorresponds to variant dbSNP:rs202080674EnsemblClinVar.1
Natural variantiVAR_063511680N → D in CSB. 1 Publication1
Natural variantiVAR_063512686W → C in CSB. 1 PublicationCorresponds to variant dbSNP:rs751292948Ensembl.1
Natural variantiVAR_063513687S → L in CSB. 1 PublicationCorresponds to variant dbSNP:rs1026438103EnsemblClinVar.1
Natural variantiVAR_001219851W → R in CSB. 2 PublicationsCorresponds to variant dbSNP:rs368728467EnsemblClinVar.1
Natural variantiVAR_001220957V → G in CSB. 2 Publications1
Natural variantiVAR_0012211042P → L in CSB. 2 Publications1
Cerebro-oculo-facio-skeletal syndrome 1 (COFS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
See also OMIM:214150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063514871L → P in COFS1. 1 Publication1
Natural variantiVAR_063515987L → P in COFS1. 1 PublicationCorresponds to variant dbSNP:rs121917905EnsemblClinVar.1
De Sanctis-Cacchione syndrome (DSC)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset.
See also OMIM:278800
Macular degeneration, age-related, 5 (ARMD5)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
See also OMIM:613761
UV-sensitive syndrome 1 (UVSS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors.
See also OMIM:600630

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1427 – 1428LL → GG: Fails to bind polyubiquitin chains. 1 Publication2

Keywords - Diseasei

Age-related macular degeneration, Cataract, Cockayne syndrome, Deafness, Disease mutation, Dwarfism, Mental retardation, Xeroderma pigmentosum

Organism-specific databases

DisGeNET

More...DisGeNETi		2074
267004

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ERCC6

MalaCards human disease database

More...MalaCardsi		ERCC6
MIMi133540 phenotype
214150 phenotype
278800 phenotype
600630 phenotype
613761 phenotype

Open Targets

More...OpenTargetsi		ENSG00000225830

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

More...Orphaneti		90321 Cockayne syndrome type 1
90322 Cockayne syndrome type 2
90324 Cockayne syndrome type 3
1466 COFS syndrome
619 NON RARE IN EUROPE: Primary ovarian failure
178338 UV-sensitive syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27852

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ERCC6

Domain mapping of disease mutations (DMDM)

More...DMDMi		416959

<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_00000743141 – 1493DNA excision repair protein ERCC-6Add BLAST1493

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 residuei158PhosphoserineCombined sources1
Modified residuei170N6-methylated lysine; by EHMT21 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki255Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei297N6-methylated lysine; by EHMT21 Publication1
Modified residuei429PhosphoserineCombined sources1
Modified residuei430PhosphoserineCombined sources1
Modified residuei448N6-methylated lysine; by EHMT21 Publication1
Modified residuei486PhosphoserineCombined sources1
Modified residuei489PhosphoserineCombined sources1
Modified residuei1054N6-methylated lysine; by EHMT21 Publication1
Modified residuei1142PhosphoserineCombined sources1
Modified residuei1348PhosphoserineCombined 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

Ubiquitinated at the C-terminus. Ubiquitination by the CSA complex leads to ERCC6 proteasomal degradation in a UV-dependent manner. Stabilized following interaction with KIAA1530/UVSSA, which promotes recruitment of deubiquitinating enzyme USP7, leading to deubiquitination of ERCC6 thereby preventing UV-induced degradation of ERCC6 by the proteasome.5 Publications

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q03468

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q03468

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q03468

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

More...PaxDbi		Q03468

PeptideAtlas

More...PeptideAtlasi		Q03468

PRoteomics IDEntifications database

More...PRIDEi		Q03468

ProteomicsDB human proteome resource

More...ProteomicsDBi		58213

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q03468

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

More...PhosphoSitePlusi		Q03468

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000258838 Expressed in 89 organ(s), highest expression level in leukocyte

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q03468 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q03468 HS

<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. Binds DNA. Interacts with ERCC8. Interacts with a subunit of RNA polymerase II TFIIH. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Interacts with KIAA1530/UVSSA.5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
ERCC8Q13216-12EBI-295284,EBI-596556

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108386, 55 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1099 B-WICH chromatin remodelling complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q03468

Database of interacting proteins

More...DIPi		DIP-193N

Protein interaction database and analysis system

More...IntActi		Q03468, 22 interactors

Molecular INTeraction database

More...MINTi		Q03468

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000348089

<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

11493
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
4CVOX-ray1.85A84-160[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q03468

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

More...SMRi		Q03468

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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>Domaini519 – 695Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST177
Domaini843 – 1002Helicase C-terminalPROSITE-ProRule annotationAdd BLAST160

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1400 – 1428Ubiquitin-binding domain (UBD)Add BLAST29

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>Motifi466 – 481Nuclear localization signalSequence analysisAdd BLAST16
Motifi646 – 649DEGH box4
Motifi1038 – 1055Nuclear localization signalSequence analysisAdd BLAST18

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi356 – 394Asp/Glu-rich (acidic)Add BLAST39
Compositional biasi442 – 446Gly-rich5

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

A C-terminal ubiquitin-binding domain (UBD) is essential for transcription-coupled nucleotide excision repair to proceed.1 Publication

<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		ENOG410IHMN Eukaryota
KOG0387 Eukaryota
ENOG410XP4Z LUCA
ENOG410ZDPG LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158057

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000170952

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051502

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q03468

KEGG Orthology (KO)

More...KOi		K10841

Identification of Orthologs from Complete Genome Data

More...OMAi		QVDSAIH

Database of Orthologous Groups

More...OrthoDBi		1227195at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q03468

TreeFam database of animal gene trees

More...TreeFami		TF101236
TF328011

Family and domain databases

Conserved Domains Database

More...CDDi		cd00079 HELICc, 1 hit

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
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
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

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
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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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 2 <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 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform CSB1 Publication (identifier: Q03468-1) [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.

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MPNEGIPHSS QTQEQDCLQS QPVSNNEEMA IKQESGGDGE VEEYLSFRSV 
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GDGLSTSAVG CASAAPRRGP ALLHIDRHQI QAVEPSAQAL ELQGLGVDVY 
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DQDVLEQGVL QQVDNAIHEA SRASQLVDVE KEYRSVLDDL TSCTTSLRQI 
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NKIIEQLSPQ AATSRDINRK LDSVKRQKYN KEQQLKKITA KQKHLQAILG 
       210        220        230        240        250
GAEVKIELDH ASLEEDAEPG PSSLGSMLMP VQETAWEELI RTGQMTPFGT 
       260        270        280        290        300
QIPQKQEKKP RKIMLNEASG FEKYLADQAK LSFERKKQGC NKRAARKAPA 
       310        320        330        340        350
PVTPPAPVQN KNKPNKKARV LSKKEERLKK HIKKLQKRAL QFQGKVGLPK 
       360        370        380        390        400
ARRPWESDMR PEAEGDSEGE ESEYFPTEEE EEEEDDEVEG AEADLSGDGT 
       410        420        430        440        450
DYELKPLPKG GKRQKKVPVQ EIDDDFFPSS GEEAEAASVG EGGGGGRKVG 
       460        470        480        490        500
RYRDDGDEDY YKQRLRRWNK LRLQDKEKRL KLEDDSEESD AEFDEGFKVP 
       510        520        530        540        550
GFLFKKLFKY QQTGVRWLWE LHCQQAGGIL GDEMGLGKTI QIIAFLAGLS 
       560        570        580        590        600
YSKIRTRGSN YRFEGLGPTV IVCPTTVMHQ WVKEFHTWWP PFRVAILHET 
       610        620        630        640        650
GSYTHKKEKL IRDVAHCHGI LITSYSYIRL MQDDISRYDW HYVILDEGHK 
       660        670        680        690        700
IRNPNAAVTL ACKQFRTPHR IILSGSPMQN NLRELWSLFD FIFPGKLGTL 
       710        720        730        740        750
PVFMEQFSVP ITMGGYSNAS PVQVKTAYKC ACVLRDTINP YLLRRMKSDV 
       760        770        780        790        800
KMSLSLPDKN EQVLFCRLTD EQHKVYQNFV DSKEVYRILN GEMQIFSGLI 
       810        820        830        840        850
ALRKICNHPD LFSGGPKNLK GLPDDELEED QFGYWKRSGK MIVVESLLKI 
       860        870        880        890        900
WHKQGQRVLL FSQSRQMLDI LEVFLRAQKY TYLKMDGTTT IASRQPLITR 
       910        920        930        940        950
YNEDTSIFVF LLTTRVGGLG VNLTGANRVV IYDPDWNPST DTQARERAWR 
       960        970        980        990       1000
IGQKKQVTVY RLLTAGTIEE KIYHRQIFKQ FLTNRVLKDP KQRRFFKSND 
      1010       1020       1030       1040       1050
LYELFTLTSP DASQSTETSA IFAGTGSDVQ TPKCHLKRRI QPAFGADHDV 
      1060       1070       1080       1090       1100
PKRKKFPASN ISVNDATSSE EKSEAKGAEV NAVTSNRSDP LKDDPHMSSN 
      1110       1120       1130       1140       1150
VTSNDRLGEE TNAVSGPEEL SVISGNGECS NSSGTGKTSM PSGDESIDEK 
      1160       1170       1180       1190       1200
LGLSYKRERP SQAQTEAFWE NKQMENNFYK HKSKTKHHSV AEEETLEKHL 
      1210       1220       1230       1240       1250
RPKQKPKNSK HCRDAKFEGT RIPHLVKKRR YQKQDSENKS EAKEQSNDDY 
      1260       1270       1280       1290       1300
VLEKLFKKSV GVHSVMKHDA IMDGASPDYV LVEAEANRVA QDALKALRLS 
      1310       1320       1330       1340       1350
RQRCLGAVSG VPTWTGHRGI SGAPAGKKSR FGKKRNSNFS VQHPSSTSPT 
      1360       1370       1380       1390       1400
EKCQDGIMKK EGKDNVPEHF SGRAEDADSS SGPLASSSLL AKMRARNHLI 
      1410       1420       1430       1440       1450
LPERLESESG HLQEASALLP TTEHDDLLVE MRNFIAFQAH TDGQASTREI 
      1460       1470       1480       1490 
LQEFESKLSA SQSCVFRELL RNLCTFHRTS GGEGIWKLKP EYC
Length:1,493
Mass (Da):168,416
Last modified:October 1, 1993 - v1
<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:i285257E2AEC071AC
GO
Isoform CSB-PGBD31 Publication (identifier: P0DP91-1) [UniParc] [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry P0DP91.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Produced by an alternative splicing event that joins the first 5 exons of ERCC6 gene in frame to the entire PGBD3 coding region, which is located within ERCC6 intron 5. The resulting chimeric protein consists of the N-terminal 465 residues of ERCC6 tethered to the entire PGBD3 sequence.1 Publication
Length:1,061
Mass (Da):119,487
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6R9X7D6R9X7_HUMAN
DNA excision repair protein ERCC-6
ERCC6
179Annotation 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>
A0A096LNQ7A0A096LNQ7_HUMAN
DNA excision repair protein ERCC-6
ERCC6
77Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054153134R → W1 PublicationCorresponds to variant dbSNP:rs148095899EnsemblClinVar.1
Natural variantiVAR_001216255K → T1 Publication1
Natural variantiVAR_001217399G → D2 PublicationsCorresponds to variant dbSNP:rs2228528EnsemblClinVar.1
Natural variantiVAR_016301425D → A1 PublicationCorresponds to variant dbSNP:rs4253046EnsemblClinVar.1
Natural variantiVAR_016302446G → D1 PublicationCorresponds to variant dbSNP:rs4253047EnsemblClinVar.1
Natural variantiVAR_036021591P → A in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1184760254Ensembl.1
Natural variantiVAR_036022652R → L in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1365187961Ensembl.1
Natural variantiVAR_001218670R → W in CSB. 2 PublicationsCorresponds to variant dbSNP:rs202080674EnsemblClinVar.1
Natural variantiVAR_063511680N → D in CSB. 1 Publication1
Natural variantiVAR_063512686W → C in CSB. 1 PublicationCorresponds to variant dbSNP:rs751292948Ensembl.1
Natural variantiVAR_063513687S → L in CSB. 1 PublicationCorresponds to variant dbSNP:rs1026438103EnsemblClinVar.1
Natural variantiVAR_001219851W → R in CSB. 2 PublicationsCorresponds to variant dbSNP:rs368728467EnsemblClinVar.1
Natural variantiVAR_063514871L → P in COFS1. 1 Publication1
Natural variantiVAR_016303942T → M1 PublicationCorresponds to variant dbSNP:rs2228525EnsemblClinVar.1
Natural variantiVAR_001220957V → G in CSB. 2 Publications1
Natural variantiVAR_063515987L → P in COFS1. 1 PublicationCorresponds to variant dbSNP:rs121917905EnsemblClinVar.1
Natural variantiVAR_0163041002Y → C1 PublicationCorresponds to variant dbSNP:rs4253206Ensembl.1
Natural variantiVAR_0360231038R → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0012211042P → L in CSB. 2 Publications1
Natural variantiVAR_0012221095P → R3 PublicationsCorresponds to variant dbSNP:rs4253208EnsemblClinVar.1
Natural variantiVAR_0012231097M → V2 PublicationsCorresponds to variant dbSNP:rs2228526EnsemblClinVar.1
Natural variantiVAR_0360241119E → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0360251119E → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0012241213R → G3 PublicationsCorresponds to variant dbSNP:rs2228527EnsemblClinVar.1
Natural variantiVAR_0374361220T → I. Corresponds to variant dbSNP:rs34704611EnsemblClinVar.1
Natural variantiVAR_0163051230R → P1 PublicationCorresponds to variant dbSNP:rs4253211EnsemblClinVar.1
Natural variantiVAR_0163061308V → L1 PublicationCorresponds to variant dbSNP:rs2229761EnsemblClinVar.1
Natural variantiVAR_0163071322G → V1 PublicationCorresponds to variant dbSNP:rs4253219EnsemblClinVar.1
Natural variantiVAR_0374371355D → E. Corresponds to variant dbSNP:rs34917815EnsemblClinVar.1
Natural variantiVAR_0163081372G → R1 PublicationCorresponds to variant dbSNP:rs4253227EnsemblClinVar.1
Natural variantiVAR_0163091382G → R1 PublicationCorresponds to variant dbSNP:rs4253228Ensembl.1
Natural variantiVAR_0163101410G → R1 PublicationCorresponds to variant dbSNP:rs4253229Ensembl.1
Natural variantiVAR_0012251413Q → R2 PublicationsCorresponds to variant dbSNP:rs2228529EnsemblClinVar.1
Natural variantiVAR_0163111441T → I1 PublicationCorresponds to variant dbSNP:rs4253230EnsemblClinVar.1

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
L04791 mRNA Translation: AAA52397.1
AY204752 Genomic DNA Translation: AAO13487.1
AC073366 Genomic DNA No translation available.
AL138760 Genomic DNA No translation available.
CH471187 Genomic DNA Translation: EAW93094.1
CH471187 Genomic DNA Translation: EAW93097.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7229.1 [Q03468-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A44224

NCBI Reference Sequences

More...RefSeqi		NP_000115.1, NM_000124.3 [Q03468-1]
NP_001333369.1, NM_001346440.1 [Q03468-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.49063

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000355832; ENSP00000348089; ENSG00000225830 [Q03468-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2074

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2074

UCSC genome browser

More...UCSCi		uc001jhs.6 human [Q03468-1]
uc001jhu.4 human

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
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L04791 mRNA Translation: AAA52397.1
AY204752 Genomic DNA Translation: AAO13487.1
AC073366 Genomic DNA No translation available.
AL138760 Genomic DNA No translation available.
CH471187 Genomic DNA Translation: EAW93094.1
CH471187 Genomic DNA Translation: EAW93097.1
CCDSiCCDS7229.1 [Q03468-1]
PIRiA44224
RefSeqiNP_000115.1, NM_000124.3 [Q03468-1]
NP_001333369.1, NM_001346440.1 [Q03468-1]
UniGeneiHs.49063

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4CVOX-ray1.85A84-160[»]
ProteinModelPortaliQ03468
SMRiQ03468
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108386, 55 interactors
ComplexPortaliCPX-1099 B-WICH chromatin remodelling complex
CORUMiQ03468
DIPiDIP-193N
IntActiQ03468, 22 interactors
MINTiQ03468
STRINGi9606.ENSP00000348089

PTM databases

iPTMnetiQ03468
PhosphoSitePlusiQ03468

Polymorphism and mutation databases

BioMutaiERCC6
DMDMi416959

Proteomic databases

EPDiQ03468
jPOSTiQ03468
MaxQBiQ03468
PaxDbiQ03468
PeptideAtlasiQ03468
PRIDEiQ03468
ProteomicsDBi58213

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355832; ENSP00000348089; ENSG00000225830 [Q03468-1]
GeneIDi2074
KEGGihsa:2074
UCSCiuc001jhs.6 human [Q03468-1]
uc001jhu.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2074
DisGeNETi2074
267004
EuPathDBiHostDB:ENSG00000225830.10
HostDB:ENSG00000258838.5

GeneCards: human genes, protein and diseases

More...GeneCardsi		ERCC6
GeneReviewsiERCC6
HGNCiHGNC:3438 ERCC6
MalaCardsiERCC6
MIMi133540 phenotype
214150 phenotype
278800 phenotype
600630 phenotype
609413 gene
613761 phenotype
neXtProtiNX_Q03468
OpenTargetsiENSG00000225830
Orphaneti90321 Cockayne syndrome type 1
90322 Cockayne syndrome type 2
90324 Cockayne syndrome type 3
1466 COFS syndrome
619 NON RARE IN EUROPE: Primary ovarian failure
178338 UV-sensitive syndrome
PharmGKBiPA27852

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IHMN Eukaryota
KOG0387 Eukaryota
ENOG410XP4Z LUCA
ENOG410ZDPG LUCA
GeneTreeiENSGT00940000158057
HOGENOMiHOG000170952
HOVERGENiHBG051502
InParanoidiQ03468
KOiK10841
OMAiQVDSAIH
OrthoDBi1227195at2759
PhylomeDBiQ03468
TreeFamiTF101236
TF328011

Enzyme and pathway databases

ReactomeiR-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-73762 RNA Polymerase I Transcription Initiation
SIGNORiQ03468

Miscellaneous databases

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

More...ChiTaRSi		ERCC6 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ERCC6

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

More...GenomeRNAii		2074

Protein Ontology

More...PROi		PR:Q03468

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000258838 Expressed in 89 organ(s), highest expression level in leukocyte
ExpressionAtlasiQ03468 baseline and differential
GenevisibleiQ03468 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
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
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiERCC6_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: Q03468
Secondary accession number(s): D3DX94, E7EV46, Q5W0L9
<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: October 1, 1993
Last sequence update: October 1, 1993
Last modified: February 13, 2019
This is version 204 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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