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UniProtKB - O75643 (U520_HUMAN)

Protein

U5 small nuclear ribonucleoprotein 200 kDa helicase

Gene

SNRNP200

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

RNA helicase that plays an essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome.4 Publications

<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

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 bindingi503 – 510ATPPROSITE-ProRule annotation1 Publication8
Nucleotide bindingi1350 – 1357ATPPROSITE-ProRule annotation1 Publication8

<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

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent helicase activity Source: HGNC
  • ATP-dependent RNA helicase activity Source: UniProtKB
  • identical protein binding Source: IntAct
  • RNA binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cis assembly of pre-catalytic spliceosome Source: HGNC
  • mRNA splicing, via spliceosome Source: UniProtKB
  • osteoblast differentiation Source: UniProtKB
  • spliceosome conformational change to release U4 (or U4atac) and U1 (or U11) Source: GO_Central
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 functionHelicase, Hydrolase
Biological processmRNA processing, mRNA splicing
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway

<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:
U5 small nuclear ribonucleoprotein 200 kDa helicase (EC:3.6.4.131 Publication)
Alternative name(s):
Activating signal cointegrator 1 complex subunit 3-like 1
BRR2 homolog
U5 snRNP-specific 200 kDa protein
Short name:
U5-200KD
<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:SNRNP200
Synonyms:ASCC3L1, HELIC2, KIAA0788
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000144028.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:30859 SNRNP200

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601664 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75643

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

<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

Retinitis pigmentosa 33 (RP33)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:610359
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_071689502C → R in RP33. 1 Publication1
Natural variantiVAR_071690542A → V in RP33. 1 Publication1
Natural variantiVAR_065587681R → C in RP33. 2 PublicationsCorresponds to variant dbSNP:rs959069360Ensembl.1
Natural variantiVAR_065588681R → H in RP33. 2 PublicationsCorresponds to variant dbSNP:rs527236113EnsemblClinVar.1
Natural variantiVAR_071691682P → S in RP33. 1 Publication1
Natural variantiVAR_065589683V → L in RP33; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs527236114EnsemblClinVar.1
Natural variantiVAR_065590689Y → C in RP33. 1 Publication1
Natural variantiVAR_071692698I → V in RP33. 1 Publication1
Natural variantiVAR_071693885Q → E in RP33. 1 PublicationCorresponds to variant dbSNP:rs397514575EnsemblClinVar.1
Natural variantiVAR_0635391087S → L in RP33; strongly reduced RNA helicase activity. 5 PublicationsCorresponds to variant dbSNP:rs267607077EnsemblClinVar.1
Natural variantiVAR_0635401090R → L in RP33. 1 PublicationCorresponds to variant dbSNP:rs397514574EnsemblClinVar.1
Natural variantiVAR_0716941779R → H in RP33. 1 PublicationCorresponds to variant dbSNP:rs749546665Ensembl.1

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>Mutagenesisi603R → A: Strongly decreased ATP-dependent RNA helicase activity. 1 Publication1
Mutagenesisi637R → A: Strongly decreased ATP-dependent RNA helicase activity. 1 Publication1
Mutagenesisi1544K → A: Decreased ATP-dependent RNA helicase activity. 1 Publication1
Mutagenesisi1548H → A: Strongly decreased ATP-dependent RNA helicase activity. 1 Publication1
Mutagenesisi1578T → A: Decreased ATP-dependent RNA helicase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...DisGeNETi		23020

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

More...GeneReviewsi		SNRNP200

MalaCards human disease database

More...MalaCardsi		SNRNP200
MIMi610359 phenotype

Open Targets

More...OpenTargetsi		ENSG00000144028

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

More...Orphaneti		791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164726004

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SNRNP200

<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_00001020871 – 2136U5 small nuclear ribonucleoprotein 200 kDa helicaseAdd BLAST2136

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 residuei17PhosphoserineCombined sources1
Modified residuei26PhosphoserineCombined sources1
<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-linki46Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei225PhosphoserineCombined sources1
Modified residuei389PhosphothreonineCombined sources1
Modified residuei709PhosphotyrosineBy similarity1
Modified residuei971N6-acetyllysineCombined sources1
Modified residuei1428PhosphothreonineCombined sources1
Modified residuei1765PhosphothreonineBy similarity1
Modified residuei2002PhosphoserineCombined sources1
Modified residuei2131PhosphothreonineCombined sources1
Modified residuei2133PhosphoserineCombined sources1
Modified residuei2135PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75643

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75643

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

More...PaxDbi		O75643

PeptideAtlas

More...PeptideAtlasi		O75643

PRoteomics IDEntifications database

More...PRIDEi		O75643

ProteomicsDB human proteome resource

More...ProteomicsDBi		50136
50137 [O75643-2]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		O75643

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75643

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

More...PhosphoSitePlusi		O75643

SwissPalm database of S-palmitoylation events

More...SwissPalmi		O75643

<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.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000144028 Expressed in 244 organ(s), highest expression level in metanephros

CleanEx database of gene expression profiles

More...CleanExi		HS_SNRNP200

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75643 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75643 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA029321

<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

Component of a core complex containing at least PRPF8, SNRNP200, EFTUD2 and SNRNP40. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Identified in the spliceosome C complex.4 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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		116661, 197 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O75643

Database of interacting proteins

More...DIPi		DIP-31659N

Protein interaction database and analysis system

More...IntActi		O75643, 68 interactors

Molecular INTeraction database

More...MINTi		O75643

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000317123

<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

12136
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O75643

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

More...SMRi		O75643

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O75643

<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>Domaini490 – 673Helicase ATP-binding 1PROSITE-ProRule annotationAdd BLAST184
Domaini684 – 921Helicase C-terminal 1PROSITE-ProRule annotationAdd BLAST238
Domaini981 – 1286SEC63 1Add BLAST306
Domaini1337 – 1512Helicase ATP-binding 2PROSITE-ProRule annotationAdd BLAST176
Domaini1545 – 1753Helicase C-terminal 2PROSITE-ProRule annotationAdd BLAST209
Domaini1812 – 2124SEC63 2Add BLAST313

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili54 – 84Sequence analysisAdd BLAST31

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>Motifi615 – 618DEIH box4
Motifi1454 – 1457DEVH box4

<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

Contains two helicase domains. The N-terminal helicase domain has catalytic activity by itself, contrary to the C-terminal helicase domain that may have a regulatory role and enhance the activity of the first helicase domain.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 helicase family. SKI2 subfamily.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0952 Eukaryota
COG1204 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154966

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051896

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75643

KEGG Orthology (KO)

More...KOi		K12854

Identification of Orthologs from Complete Genome Data

More...OMAi		TLCKMID

Database of Orthologous Groups

More...OrthoDBi		EOG091G0HE5

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75643

TreeFam database of animal gene trees

More...TreeFami		TF300056

Family and domain databases

Conserved Domains Database

More...CDDi		cd00079 HELICc, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.150, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR035892 C2_domain_sf
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR014756 Ig_E-set
IPR027417 P-loop_NTPase
IPR004179 Sec63-dom
IPR036390 WH_DNA-bd_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00270 DEAD, 2 hits
PF00271 Helicase_C, 1 hit
PF02889 Sec63, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00487 DEXDc, 2 hits
SM00490 HELICc, 2 hits
SM00973 Sec63, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46785 SSF46785, 2 hits
SSF52540 SSF52540, 4 hits
SSF81296 SSF81296, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 2 hits
PS51194 HELICASE_CTER, 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>.<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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O75643-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MADVTARSLQ YEYKANSNLV LQADRSLIDR TRRDEPTGEV LSLVGKLEGT 
        60         70         80         90        100
RMGDKAQRTK PQMQEERRAK RRKRDEDRHD INKMKGYTLL SEGIDEMVGI 
       110        120        130        140        150
IYKPKTKETR ETYEVLLSFI QAALGDQPRD ILCGAADEVL AVLKNEKLRD 
       160        170        180        190        200
KERRKEIDLL LGQTDDTRYH VLVNLGKKIT DYGGDKEIQN MDDNIDETYG 
       210        220        230        240        250
VNVQFESDEE EGDEDVYGEV REEASDDDME GDEAVVRCTL SANLVASGEL 
       260        270        280        290        300
MSSKKKDLHP RDIDAFWLQR QLSRFYDDAI VSQKKADEVL EILKTASDDR 
       310        320        330        340        350
ECENQLVLLL GFNTFDFIKV LRQHRMMILY CTLLASAQSE AEKERIMGKM 
       360        370        380        390        400
EADPELSKFL YQLHETEKED LIREERSRRE RVRQSRMDTD LETMDLDQGG 
       410        420        430        440        450
EALAPRQVLD LEDLVFTQGS HFMANKRCQL PDGSFRRQRK GYEEVHVPAL 
       460        470        480        490        500
KPKPFGSEEQ LLPVEKLPKY AQAGFEGFKT LNRIQSKLYR AALETDENLL 
       510        520        530        540        550
LCAPTGAGKT NVALMCMLRE IGKHINMDGT INVDDFKIIY IAPMRSLVQE 
       560        570        580        590        600
MVGSFGKRLA TYGITVAELT GDHQLCKEEI SATQIIVCTP EKWDIITRKG 
       610        620        630        640        650
GERTYTQLVR LIILDEIHLL HDDRGPVLEA LVARAIRNIE MTQEDVRLIG 
       660        670        680        690        700
LSATLPNYED VATFLRVDPA KGLFYFDNSF RPVPLEQTYV GITEKKAIKR 
       710        720        730        740        750
FQIMNEIVYE KIMEHAGKNQ VLVFVHSRKE TGKTARAIRD MCLEKDTLGL 
       760        770        780        790        800
FLREGSASTE VLRTEAEQCK NLELKDLLPY GFAIHHAGMT RVDRTLVEDL 
       810        820        830        840        850
FADKHIQVLV STATLAWGVN LPAHTVIIKG TQVYSPEKGR WTELGALDIL 
       860        870        880        890        900
QMLGRAGRPQ YDTKGEGILI TSHGELQYYL SLLNQQLPIE SQMVSKLPDM 
       910        920        930        940        950
LNAEIVLGNV QNAKDAVNWL GYAYLYIRML RSPTLYGISH DDLKGDPLLD 
       960        970        980        990       1000
QRRLDLVHTA ALMLDKNNLV KYDKKTGNFQ VTELGRIASH YYITNDTVQT 
      1010       1020       1030       1040       1050
YNQLLKPTLS EIELFRVFSL SSEFKNITVR EEEKLELQKL LERVPIPVKE 
      1060       1070       1080       1090       1100
SIEEPSAKIN VLLQAFISQL KLEGFALMAD MVYVTQSAGR LMRAIFEIVL 
      1110       1120       1130       1140       1150
NRGWAQLTDK TLNLCKMIDK RMWQSMCPLR QFRKLPEEVV KKIEKKNFPF 
      1160       1170       1180       1190       1200
ERLYDLNHNE IGELIRMPKM GKTIHKYVHL FPKLELSVHL QPITRSTLKV 
      1210       1220       1230       1240       1250
ELTITPDFQW DEKVHGSSEA FWILVEDVDS EVILHHEYFL LKAKYAQDEH 
      1260       1270       1280       1290       1300
LITFFVPVFE PLPPQYFIRV VSDRWLSCET QLPVSFRHLI LPEKYPPPTE 
      1310       1320       1330       1340       1350
LLDLQPLPVS ALRNSAFESL YQDKFPFFNP IQTQVFNTVY NSDDNVFVGA 
      1360       1370       1380       1390       1400
PTGSGKTICA EFAILRMLLQ SSEGRCVYIT PMEALAEQVY MDWYEKFQDR 
      1410       1420       1430       1440       1450
LNKKVVLLTG ETSTDLKLLG KGNIIISTPE KWDILSRRWK QRKNVQNINL 
      1460       1470       1480       1490       1500
FVVDEVHLIG GENGPVLEVI CSRMRYISSQ IERPIRIVAL SSSLSNAKDV 
      1510       1520       1530       1540       1550
AHWLGCSATS TFNFHPNVRP VPLELHIQGF NISHTQTRLL SMAKPVYHAI 
      1560       1570       1580       1590       1600
TKHSPKKPVI VFVPSRKQTR LTAIDILTTC AADIQRQRFL HCTEKDLIPY 
      1610       1620       1630       1640       1650
LEKLSDSTLK ETLLNGVGYL HEGLSPMERR LVEQLFSSGA IQVVVASRSL 
      1660       1670       1680       1690       1700
CWGMNVAAHL VIIMDTQYYN GKIHAYVDYP IYDVLQMVGH ANRPLQDDEG 
      1710       1720       1730       1740       1750
RCVIMCQGSK KDFFKKFLYE PLPVESHLDH CMHDHFNAEI VTKTIENKQD 
      1760       1770       1780       1790       1800
AVDYLTWTFL YRRMTQNPNY YNLQGISHRH LSDHLSELVE QTLSDLEQSK 
      1810       1820       1830       1840       1850
CISIEDEMDV APLNLGMIAA YYYINYTTIE LFSMSLNAKT KVRGLIEIIS 
      1860       1870       1880       1890       1900
NAAEYENIPI RHHEDNLLRQ LAQKVPHKLN NPKFNDPHVK TNLLLQAHLS 
      1910       1920       1930       1940       1950
RMQLSAELQS DTEEILSKAI RLIQACVDVL SSNGWLSPAL AAMELAQMVT 
      1960       1970       1980       1990       2000
QAMWSKDSYL KQLPHFTSEH IKRCTDKGVE SVFDIMEMED EERNALLQLT 
      2010       2020       2030       2040       2050
DSQIADVARF CNRYPNIELS YEVVDKDSIR SGGPVVVLVQ LEREEEVTGP 
      2060       2070       2080       2090       2100
VIAPLFPQKR EEGWWVVIGD AKSNSLISIK RLTLQQKAKV KLDFVAPATG 
      2110       2120       2130 
AHNYTLYFMS DAYMGCDQEY KFSVDVKEAE TDSDSD
Length:2,136
Mass (Da):244,508
Last modified:December 7, 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:i3F3811BDCCC9DDB7
GO
Isoform 2 (identifier: O75643-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     561-2071: Missing.

Note: No experimental confirmation available.
Show »
Length:625
Mass (Da):71,472
Checksum:iEDC83DE90411A495
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4E0P5B4E0P5_HUMAN
U5 small nuclear ribonucleoprotein ...
SNRNP200
595Annotation 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 BAB14906 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti588C → F in AAH65924 (PubMed:15489334).Curated1
Sequence conflicti613I → V in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti802A → G in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti840R → H in BAB14906 (PubMed:14702039).Curated1
Sequence conflicti1322Q → R in BAB14906 (PubMed:14702039).Curated1
Sequence conflicti1371S → N in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti1383 – 1386EALA → RLWQ in CAA94089 (PubMed:8670905).Curated4
Sequence conflicti1476Y → N in BAB14906 (PubMed:14702039).Curated1
Sequence conflicti1547Y → F in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti1667Q → L in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti1956K → E in CAA94089 (PubMed:8670905).Curated1
Sequence conflicti1961 – 1962KQ → RR in CAA94089 (PubMed:8670905).Curated2
Sequence conflicti1965 – 1971HFTSEHI → PFPSGLF in CAA94089 (PubMed:8670905).Curated7
Sequence conflicti2031S → R in BAB14906 (PubMed:14702039).Curated1
Sequence conflicti2065W → L in AAH65924 (PubMed:15489334).Curated1
Sequence conflicti2101 – 2104AHNY → GRHN in CAA94089 (PubMed:8670905).Curated4

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071689502C → R in RP33. 1 Publication1
Natural variantiVAR_071690542A → V in RP33. 1 Publication1
Natural variantiVAR_065587681R → C in RP33. 2 PublicationsCorresponds to variant dbSNP:rs959069360Ensembl.1
Natural variantiVAR_065588681R → H in RP33. 2 PublicationsCorresponds to variant dbSNP:rs527236113EnsemblClinVar.1
Natural variantiVAR_071691682P → S in RP33. 1 Publication1
Natural variantiVAR_065589683V → L in RP33; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs527236114EnsemblClinVar.1
Natural variantiVAR_065590689Y → C in RP33. 1 Publication1
Natural variantiVAR_071692698I → V in RP33. 1 Publication1
Natural variantiVAR_071693885Q → E in RP33. 1 PublicationCorresponds to variant dbSNP:rs397514575EnsemblClinVar.1
Natural variantiVAR_0635391087S → L in RP33; strongly reduced RNA helicase activity. 5 PublicationsCorresponds to variant dbSNP:rs267607077EnsemblClinVar.1
Natural variantiVAR_0635401090R → L in RP33. 1 PublicationCorresponds to variant dbSNP:rs397514574EnsemblClinVar.1
Natural variantiVAR_0359431736F → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0716941779R → H in RP33. 1 PublicationCorresponds to variant dbSNP:rs749546665Ensembl.1
Natural variantiVAR_0716951995A → T1 PublicationCorresponds to variant dbSNP:rs201691299EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_026622561 – 2071Missing in isoform 2. 1 PublicationAdd BLAST1511

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
AY572488 mRNA Translation: AAS78571.1
AK024391 mRNA Translation: BAB14906.1 Different initiation.
AK090671 mRNA Translation: BAC03499.1
AB018331 mRNA Translation: BAA34508.2
Z70200 Genomic DNA Translation: CAA94089.1
BC065924 mRNA Translation: AAH65924.1
BC007577 mRNA Translation: AAH07577.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2020.1 [O75643-1]

NCBI Reference Sequences

More...RefSeqi		NP_054733.2, NM_014014.4 [O75643-1]
XP_016859092.1, XM_017003603.1

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.246112

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000323853; ENSP00000317123; ENSG00000144028 [O75643-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23020

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23020

UCSC genome browser

More...UCSCi		uc002svu.4 human [O75643-1]

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
AY572488 mRNA Translation: AAS78571.1
AK024391 mRNA Translation: BAB14906.1 Different initiation.
AK090671 mRNA Translation: BAC03499.1
AB018331 mRNA Translation: BAA34508.2
Z70200 Genomic DNA Translation: CAA94089.1
BC065924 mRNA Translation: AAH65924.1
BC007577 mRNA Translation: AAH07577.1
CCDSiCCDS2020.1 [O75643-1]
RefSeqiNP_054733.2, NM_014014.4 [O75643-1]
XP_016859092.1, XM_017003603.1
UniGeneiHs.246112

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
2Q0ZX-ray2.00X1808-2136[»]
3JCRelectron microscopy7.00C1-2136[»]
4F91X-ray2.70B402-2125[»]
4F92X-ray2.66B402-2125[»]
4F93X-ray2.92B402-2125[»]
4KITX-ray3.60B395-2129[»]
5O9Zelectron microscopy4.50C1-2136[»]
5URJX-ray2.75A395-2129[»]
5URKX-ray2.95A395-2129[»]
5URMX-ray2.80A/B395-2129[»]
5XJCelectron microscopy3.60D1-2136[»]
5YZGelectron microscopy4.10D1-2136[»]
5Z56electron microscopy5.10D1-2136[»]
5Z57electron microscopy6.50D1-2136[»]
5Z58electron microscopy4.90D1-2136[»]
ProteinModelPortaliO75643
SMRiO75643
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116661, 197 interactors
CORUMiO75643
DIPiDIP-31659N
IntActiO75643, 68 interactors
MINTiO75643
STRINGi9606.ENSP00000317123

PTM databases

CarbonylDBiO75643
iPTMnetiO75643
PhosphoSitePlusiO75643
SwissPalmiO75643

Polymorphism and mutation databases

BioMutaiSNRNP200

Proteomic databases

EPDiO75643
MaxQBiO75643
PaxDbiO75643
PeptideAtlasiO75643
PRIDEiO75643
ProteomicsDBi50136
50137 [O75643-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323853; ENSP00000317123; ENSG00000144028 [O75643-1]
GeneIDi23020
KEGGihsa:23020
UCSCiuc002svu.4 human [O75643-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23020
DisGeNETi23020
EuPathDBiHostDB:ENSG00000144028.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		SNRNP200
GeneReviewsiSNRNP200

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0002273
HGNCiHGNC:30859 SNRNP200
HPAiHPA029321
MalaCardsiSNRNP200
MIMi601664 gene
610359 phenotype
neXtProtiNX_O75643
OpenTargetsiENSG00000144028
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA164726004

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0952 Eukaryota
COG1204 LUCA
GeneTreeiENSGT00940000154966
HOVERGENiHBG051896
InParanoidiO75643
KOiK12854
OMAiTLCKMID
OrthoDBiEOG091G0HE5
PhylomeDBiO75643
TreeFamiTF300056

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway

Miscellaneous databases

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

More...ChiTaRSi		SNRNP200 human
EvolutionaryTraceiO75643

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ASCC3L1

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

More...GenomeRNAii		23020

Protein Ontology

More...PROi		PR:O75643

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000144028 Expressed in 244 organ(s), highest expression level in metanephros
CleanExiHS_SNRNP200
ExpressionAtlasiO75643 baseline and differential
GenevisibleiO75643 HS

Family and domain databases

CDDicd00079 HELICc, 2 hits
Gene3Di2.60.40.150, 2 hits
InterProiView protein in InterPro
IPR035892 C2_domain_sf
IPR011545 DEAD/DEAH_box_helicase_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR014756 Ig_E-set
IPR027417 P-loop_NTPase
IPR004179 Sec63-dom
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00270 DEAD, 2 hits
PF00271 Helicase_C, 1 hit
PF02889 Sec63, 2 hits
SMARTiView protein in SMART
SM00487 DEXDc, 2 hits
SM00490 HELICc, 2 hits
SM00973 Sec63, 2 hits
SUPFAMiSSF46785 SSF46785, 2 hits
SSF52540 SSF52540, 4 hits
SSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 2 hits
PS51194 HELICASE_CTER, 2 hits

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 nameiU520_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: O75643
Secondary accession number(s): O94884
, Q6NZY0, Q6PX59, Q8NBE6, Q96IF2, Q9H7S0
<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: December 1, 2000
Last sequence update: December 7, 2004
Last modified: December 5, 2018
This is version 199 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, Direct protein sequencing, 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 chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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