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UniProtKB - P17181 (INAR1_HUMAN)

Entry version 196 (02 Dec 2020)
Sequence version 3 (07 Mar 2006)
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Protein

Interferon alpha/beta receptor 1

Gene

IFNAR1

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

Component of the receptor for type I interferons, including interferons alpha, IFNB1 and IFNW1 (PubMed:2153461, PubMed:7665574, PubMed:10049744, PubMed:14532120, PubMed:15337770, PubMed:21854986). Functions in general as heterodimer with IFNAR2 (PubMed:7665574, PubMed:10049744, PubMed:21854986). Type I interferon binding activates the JAK-STAT signaling cascade, and triggers tyrosine phosphorylation of a number of proteins including JAKs, TYK2, STAT proteins and the IFNR alpha- and beta-subunits themselves (PubMed:7665574, PubMed:21854986). Can form an active IFNB1 receptor by itself and activate a signaling cascade that does not involve activation of the JAK-STAT pathway (By similarity).By similarity1 Publication6 Publications

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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

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

Molecular functionReceptor

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P17181

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-909733, Interferon alpha/beta signaling
R-HSA-912694, Regulation of IFNA signaling

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P17181

SIGNOR Signaling Network Open Resource

More...SIGNORi		P17181

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.132.1.1, the interferon/interleukin receptor (iir) family

<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%5Fand%5Ftaxonomy%5Fsection">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:
Interferon alpha/beta receptor 1
Short name:
IFN-R-1
Short name:
IFN-alpha/beta receptor 1
Alternative name(s):
Cytokine receptor class-II member 1
Cytokine receptor family 2 member 1
Short name:
CRF2-1
Type I interferon receptor 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:IFNAR1
Synonyms:IFNAR
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 21

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000142166.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:5432, IFNAR1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		107450, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P17181

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini28 – 436ExtracellularSequence analysisAdd BLAST409
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei437 – 457HelicalSequence analysisAdd BLAST21
Topological domaini458 – 557CytoplasmicSequence analysisAdd BLAST100

Keywords - Cellular componenti

Cell membrane, Endosome, Lysosome, Membrane

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi466Y → F: Impairs internalization in response to interferon. 1 Publication1
Mutagenesisi491 – 492LL → AA: Impairs interaction with TYK2. 1 Publication2
Mutagenesisi496 – 497EE → AA: Impairs interaction with TYK2. 1 Publication2
Mutagenesisi500E → A: Impairs interaction with TYK2. 1 Publication1
Mutagenesisi501K → R: Mildly reduces ubiquitination. Nearly abolishes ubiquitination and subsequent degradation; when associated with 525-R-R-526. 1 Publication1
Mutagenesisi525 – 526KK → RR: Reduces ubiquitination. Nearly abolishes ubiquitination and subsequent degradation; when associated with R-501. 1 Publication2
Mutagenesisi535S → A: Abolishes interaction with FBXW11 and decreases ubiquitination. 2 Publications1
Mutagenesisi535S → A: Abolishes phosphorylation at this site and interaction with SHMT2. 1 Publication1
Mutagenesisi539S → A: Abolishes interaction with FBXW11 and decreases ubiquitination. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		3454

Open Targets

More...OpenTargetsi		ENSG00000142166

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29670

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P17181, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1887

Drug and drug target database

More...DrugBanki		DB14999, Human interferon beta
DB05258, Interferon alfa
DB00034, Interferon alfa-2a, Recombinant
DB00105, Interferon alfa-2b
DB00011, Interferon alfa-n1
DB00018, Interferon alfa-n3
DB00069, Interferon alfacon-1
DB00060, Interferon beta-1a
DB00068, Interferon beta-1b
DB05472, omega interferon
DB00008, Peginterferon alfa-2a
DB00022, Peginterferon alfa-2b

DrugCentral

More...DrugCentrali		P17181

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		1723

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IFNAR1

Domain mapping of disease mutations (DMDM)

More...DMDMi		90110827

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 27Sequence analysisAdd BLAST27
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001100128 – 557Interferon alpha/beta receptor 1Add BLAST530

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi50N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi58N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi79 ↔ 87Combined sources1 Publication
Glycosylationi81N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi88N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi110N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi172N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Disulfide bondi199 ↔ 220Combined sources1 Publication
Glycosylationi254N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi283 ↔ 291Combined sources1 Publication
Glycosylationi313N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi314N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi376N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi403 ↔ 426By similarity
Glycosylationi416N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi433N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi463S-palmitoyl cysteine1 Publication1
<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 residuei466Phosphotyrosine; by TYK21 Publication1
Modified residuei481Phosphotyrosine; by TYK21 Publication1
Modified residuei495PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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-linki501Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki525Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki526Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei535Phosphoserine4 Publications1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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, leading to its internalization and degradation (PubMed:14532120, PubMed:15337770). Polyubiquitinated via 'Lys-48'-linked and 'Lys-63'-linked ubiquitin chains, leading to receptor internalization and lysosomal degradation (PubMed:18056411). The 'Lys-63'-linked ubiquitin chains are cleaved off by the BRISC complex (PubMed:24075985).4 Publications
Phosphorylated on serine residues in response to interferon binding; this promotes interaction with FBXW11 and ubiquitination (PubMed:14532120, PubMed:15337770, PubMed:24075985). Phosphorylated on tyrosine residues by TYK2 tyrosine kinase (PubMed:7526154). Phosphorylated on tyrosine residues in response to interferon (PubMed:10049744).4 Publications
Palmitoylation at Cys-463 is required for the activation of STAT1 and STAT2.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Isopeptide bond, Lipoprotein, Palmitate, Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P17181

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P17181

MaxQB - The MaxQuant DataBase

More...MaxQBi		P17181

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

More...PaxDbi		P17181

PeptideAtlas

More...PeptideAtlasi		P17181

PRoteomics IDEntifications database

More...PRIDEi		P17181

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4722
53460 [P17181-1]
53461 [P17181-2]
53462 [P17181-3]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1946, 8 N-Linked glycans (6 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P17181, 12 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P17181

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

More...PhosphoSitePlusi		P17181

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P17181

<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

IFN receptors are present in all tissues and even on the surface of most IFN-resistant cells. Isoform 1, isoform 2 and isoform 3 are expressed in the IFN-alpha sensitive myeloma cell line U266B1. Isoform 2 and isoform 3 are expressed in the IFN-alpha resistant myeloma cell line U266R. Isoform 1 is not expressed in IFN-alpha resistant myeloma cell line U266R.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000142166, Expressed in monocyte and 215 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P17181, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P17181, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000142166, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer with IFNAR2 (PubMed:7665574, PubMed:10049744, PubMed:21854986).

Interacts with STAT1 and STAT2; the interaction requires its phosphorylation at Tyr-466 (PubMed:9121453).

Interacts with TYK2 (PubMed:7526154, PubMed:15337770, PubMed:24704786).

Interacts (serine-phosphorylated form) with FBXW11, the substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex (PubMed:14532120, PubMed:15337770, PubMed:18056411).

Interacts with SHMT2; this promotes interaction with ABRAXAS2 and the BRISC complex (PubMed:24075985).

10 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109676, 30 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P17181

Database of interacting proteins

More...DIPi		DIP-57N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P17181

Protein interaction database and analysis system

More...IntActi		P17181, 13 interactors

Molecular INTeraction database

More...MINTi		P17181

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000270139

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P17181

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P17181, protein

<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

1557
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P17181

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P17181

<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%5Fand%5Fdomains%5Fsection">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>Domaini32 – 126Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST95
Domaini127 – 227Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST101
Domaini231 – 329Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST99
Domaini331 – 432Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST102

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>Regioni491 – 500Important for interaction with TYK21 Publication10

<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 type II cytokine receptor family.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502RISU, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158406

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_035134_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P17181

Identification of Orthologs from Complete Genome Data

More...OMAi		KLPGCQH

Database of Orthologous Groups

More...OrthoDBi		941128at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P17181

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 5 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR013783, Ig-like_fold
IPR015373, Interferon/interleukin_rcp_dom
IPR016669, Interferon_alpha/beta_rcpt-1

Pfam protein domain database

More...Pfami		View protein in Pfam
PF09294, Interfer-bind, 2 hits
PF01108, Tissue_fac, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF016567, IFN_alpha/beta_recept-1, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49265, SSF49265, 4 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50853, FN3, 4 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P17181-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MMVVLLGATT LVLVAVAPWV LSAAAGGKNL KSPQKVEVDI IDDNFILRWN 
        60         70         80         90        100
RSDESVGNVT FSFDYQKTGM DNWIKLSGCQ NITSTKCNFS SLKLNVYEEI 
       110        120        130        140        150
KLRIRAEKEN TSSWYEVDSF TPFRKAQIGP PEVHLEAEDK AIVIHISPGT 
       160        170        180        190        200
KDSVMWALDG LSFTYSLVIW KNSSGVEERI ENIYSRHKIY KLSPETTYCL 
       210        220        230        240        250
KVKAALLTSW KIGVYSPVHC IKTTVENELP PPENIEVSVQ NQNYVLKWDY 
       260        270        280        290        300
TYANMTFQVQ WLHAFLKRNP GNHLYKWKQI PDCENVKTTQ CVFPQNVFQK 
       310        320        330        340        350
GIYLLRVQAS DGNNTSFWSE EIKFDTEIQA FLLPPVFNIR SLSDSFHIYI 
       360        370        380        390        400
GAPKQSGNTP VIQDYPLIYE IIFWENTSNA ERKIIEKKTD VTVPNLKPLT 
       410        420        430        440        450
VYCVKARAHT MDEKLNKSSV FSDAVCEKTK PGNTSKIWLI VGICIALFAL 
       460        470        480        490        500
PFVIYAAKVF LRCINYVFFP SLKPSSSIDE YFSEQPLKNL LLSTSEEQIE 
       510        520        530        540        550
KCFIIENIST IATVEETNQT DEDHKKYSSQ TSQDSGNYSN EDESESKTSE 

ELQQDFV
Length:557
Mass (Da):63,525
Last modified:March 7, 2006 - v3
<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:i24A01779DB7F356F
GO
Isoform 2 (identifier: P17181-2) [UniParc]FASTAAdd to basket
Also known as: Sol-1, Soluble form 1

The sequence of this isoform differs from the canonical sequence as follows:
     428-434: KTKPGNT → NISLNSH
     435-557: Missing.

Note: Incomplete sequence.Curated
Show »
Length:434
Mass (Da):49,547
Checksum:i4744EF06968FD2EA
GO
Isoform 3 (identifier: P17181-3) [UniParc]FASTAAdd to basket
Also known as: Sol-2, Soluble form 2

The sequence of this isoform differs from the canonical sequence as follows:
     414-421: Missing.
     428-480: Missing.

Note: Incomplete sequence.Curated
Show »
Length:496
Mass (Da):56,718
Checksum:i16984A61FE2BF41C
GO
Isoform 4 (identifier: P17181-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-69: Missing.

Show »
Length:488
Mass (Da):56,046
Checksum:i29AF6E22379E2E7C
GO

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

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J114C9J114_HUMAN
Interferon alpha/beta receptor 1
IFNAR1
189Annotation 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>
A0A494C0E2A0A494C0E2_HUMAN
Interferon alpha/beta receptor 1
IFNAR1
270Annotation 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>
A0A494BZU5A0A494BZU5_HUMAN
Interferon alpha/beta receptor 1
IFNAR1
236Annotation 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>
A0A494C0P2A0A494C0P2_HUMAN
Interferon alpha/beta receptor 1
IFNAR1
128Annotation 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>
A0A494C0K3A0A494C0K3_HUMAN
Interferon alpha/beta receptor 1
IFNAR1
67Annotation 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 AAH02590 differs from that shown. Contaminating sequence. Potential poly-A sequence.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 conflicti17A → G in AAA52730 (PubMed:2153461).Curated1
Sequence conflicti59V → M in BAD96532 (Ref. 4) Curated1
Sequence conflicti279Q → R in BAD96532 (Ref. 4) Curated1
Sequence conflicti344D → G in BAG35516 (PubMed:14702039).Curated1
Sequence conflicti479D → N in BAD96532 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_002717168V → L3 PublicationsCorresponds to variant dbSNP:rs2257167Ensembl.1
Natural variantiVAR_020502307V → I1 PublicationCorresponds to variant dbSNP:rs17875833Ensembl.1
Natural variantiVAR_020503359T → M1 PublicationCorresponds to variant dbSNP:rs17875834Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0553221 – 69Missing in isoform 4. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_029928414 – 421Missing in isoform 3. 1 Publication8
Alternative sequenceiVSP_029929428 – 480Missing in isoform 3. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_029930428 – 434KTKPGNT → NISLNSH in isoform 2. 1 Publication7
Alternative sequenceiVSP_029931435 – 557Missing in isoform 2. 1 PublicationAdd BLAST123

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
J03171 mRNA Translation: AAA52730.1
X60459 Genomic DNA Translation: CAA42992.1
AK298051 mRNA Translation: BAG60345.1
AK312631 mRNA Translation: BAG35516.1
AK222770 mRNA Translation: BAD96490.1
AK222812 mRNA Translation: BAD96532.1
AY654286 Genomic DNA Translation: AAT49100.1
AF039907 Genomic DNA No translation available.
AP000296 Genomic DNA No translation available.
AP000297 Genomic DNA No translation available.
AP000298 Genomic DNA No translation available.
CH471079 Genomic DNA Translation: EAX09837.1
CH471079 Genomic DNA Translation: EAX09839.1
BC002590 mRNA Translation: AAH02590.1 Sequence problems.
BC021825 mRNA Translation: AAH21825.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13624.1 [P17181-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A32694
S41602

NCBI Reference Sequences

More...RefSeqi		NP_000620.2, NM_000629.2 [P17181-1]
XP_005261021.1, XM_005260964.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000270139; ENSP00000270139; ENSG00000142166 [P17181-1]
ENST00000652450; ENSP00000498654; ENSG00000142166 [P17181-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3454

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3454

UCSC genome browser

More...UCSCi		uc002yrn.4, human [P17181-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">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

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03171 mRNA Translation: AAA52730.1
X60459 Genomic DNA Translation: CAA42992.1
AK298051 mRNA Translation: BAG60345.1
AK312631 mRNA Translation: BAG35516.1
AK222770 mRNA Translation: BAD96490.1
AK222812 mRNA Translation: BAD96532.1
AY654286 Genomic DNA Translation: AAT49100.1
AF039907 Genomic DNA No translation available.
AP000296 Genomic DNA No translation available.
AP000297 Genomic DNA No translation available.
AP000298 Genomic DNA No translation available.
CH471079 Genomic DNA Translation: EAX09837.1
CH471079 Genomic DNA Translation: EAX09839.1
BC002590 mRNA Translation: AAH02590.1 Sequence problems.
BC021825 mRNA Translation: AAH21825.1
CCDSiCCDS13624.1 [P17181-1]
PIRiA32694
S41602
RefSeqiNP_000620.2, NM_000629.2 [P17181-1]
XP_005261021.1, XM_005260964.2

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
3S98X-ray1.90A30-332[»]
3SE3X-ray4.00A28-436[»]
3SE4X-ray3.50A28-436[»]
4PO6X-ray1.99B478-507[»]
SMRiP17181
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109676, 30 interactors
CORUMiP17181
DIPiDIP-57N
ELMiP17181
IntActiP17181, 13 interactors
MINTiP17181
STRINGi9606.ENSP00000270139

Chemistry databases

BindingDBiP17181
ChEMBLiCHEMBL1887
DrugBankiDB14999, Human interferon beta
DB05258, Interferon alfa
DB00034, Interferon alfa-2a, Recombinant
DB00105, Interferon alfa-2b
DB00011, Interferon alfa-n1
DB00018, Interferon alfa-n3
DB00069, Interferon alfacon-1
DB00060, Interferon beta-1a
DB00068, Interferon beta-1b
DB05472, omega interferon
DB00008, Peginterferon alfa-2a
DB00022, Peginterferon alfa-2b
DrugCentraliP17181
GuidetoPHARMACOLOGYi1723

Protein family/group databases

TCDBi8.A.132.1.1, the interferon/interleukin receptor (iir) family

PTM databases

GlyConnecti1946, 8 N-Linked glycans (6 sites)
GlyGeniP17181, 12 sites
iPTMnetiP17181
PhosphoSitePlusiP17181
SwissPalmiP17181

Polymorphism and mutation databases

BioMutaiIFNAR1
DMDMi90110827

Proteomic databases

jPOSTiP17181
MassIVEiP17181
MaxQBiP17181
PaxDbiP17181
PeptideAtlasiP17181
PRIDEiP17181
ProteomicsDBi4722
53460 [P17181-1]
53461 [P17181-2]
53462 [P17181-3]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		P17181, 19 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3016, 785 antibodies

The DNASU plasmid repository

More...DNASUi		3454

Genome annotation databases

EnsembliENST00000270139; ENSP00000270139; ENSG00000142166 [P17181-1]
ENST00000652450; ENSP00000498654; ENSG00000142166 [P17181-4]
GeneIDi3454
KEGGihsa:3454
UCSCiuc002yrn.4, human [P17181-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3454
DisGeNETi3454
EuPathDBiHostDB:ENSG00000142166.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		IFNAR1
HGNCiHGNC:5432, IFNAR1
HPAiENSG00000142166, Low tissue specificity
MIMi107450, gene
neXtProtiNX_P17181
OpenTargetsiENSG00000142166
PharmGKBiPA29670

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502RISU, Eukaryota
GeneTreeiENSGT00940000158406
HOGENOMiCLU_035134_0_0_1
InParanoidiP17181
OMAiKLPGCQH
OrthoDBi941128at2759
PhylomeDBiP17181

Enzyme and pathway databases

PathwayCommonsiP17181
ReactomeiR-HSA-909733, Interferon alpha/beta signaling
R-HSA-912694, Regulation of IFNA signaling
SignaLinkiP17181
SIGNORiP17181

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3454, 6 hits in 845 CRISPR screens

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

More...ChiTaRSi		IFNAR1, human
EvolutionaryTraceiP17181

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		IFNAR1

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

More...GenomeRNAii		3454
PharosiP17181, Tclin

Protein Ontology

More...PROi		PR:P17181
RNActiP17181, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000142166, Expressed in monocyte and 215 other tissues
ExpressionAtlasiP17181, baseline and differential
GenevisibleiP17181, HS

Family and domain databases

Gene3Di2.60.40.10, 5 hits
InterProiView protein in InterPro
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR013783, Ig-like_fold
IPR015373, Interferon/interleukin_rcp_dom
IPR016669, Interferon_alpha/beta_rcpt-1
PfamiView protein in Pfam
PF09294, Interfer-bind, 2 hits
PF01108, Tissue_fac, 1 hit
PIRSFiPIRSF016567, IFN_alpha/beta_recept-1, 1 hit
SUPFAMiSSF49265, SSF49265, 4 hits
PROSITEiView protein in PROSITE
PS50853, FN3, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiINAR1_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: P17181
Secondary accession number(s): B2R6L9
, B4DNT3, D3DSF0, Q53GW9, Q53H11, Q6PKD7, Q7M4L2, Q8WTZ2
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: March 7, 2006
Last modified: December 2, 2020
This is version 196 of the entry and version 3 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, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 21
    Human chromosome 21: 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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