Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Interleukin-12 receptor subunit beta-1

Gene

IL12RB1

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

Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade.1 Publication

<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

  • cytokine binding Source: GO_Central
  • cytokine receptor activity Source: GO_Central

GO - Biological processi

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

Molecular functionReceptor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-9020591 Interleukin-12 signaling
R-HSA-9020933 Interleukin-23 signaling

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

More...
SignaLinki
P42701

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P42701

<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:
Interleukin-12 receptor subunit beta-1
Short name:
IL-12 receptor subunit beta-1
Short name:
IL-12R subunit beta-1
Short name:
IL-12R-beta-1
Short name:
IL-12RB1
Alternative name(s):
IL-12 receptor beta component
CD_antigen: CD212
<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:IL12RB1
Synonyms:IL12R, IL12RB
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000096996.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5971 IL12RB1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601604 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P42701

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 domaini24 – 545ExtracellularSequence analysisAdd BLAST522
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei546 – 570HelicalSequence analysisAdd BLAST25
Topological domaini571 – 662CytoplasmicSequence analysisAdd BLAST92

Keywords - Cellular componenti

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

<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

Immunodeficiency 30 (IMD30)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD30 has low penetrance, and affected individuals have relatively mild disease and good prognosis. BCG disease and salmonellosis are the most frequent infections in IMD30 patients.
See also OMIM:614891
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_015577213R → W in IMD30. 1 PublicationCorresponds to variant dbSNP:rs121434494EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3594

MalaCards human disease database

More...
MalaCardsi
IL12RB1
MIMi614891 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000096996

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

More...
Orphaneti
319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
186 Primary biliary cholangitis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29786

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IL12RB1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1170462

<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 – 23Sequence analysisAdd BLAST23
<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_000001091724 – 662Interleukin-12 receptor subunit beta-1Add BLAST639

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 bondi52 ↔ 62By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi121N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi329N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi346N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi352N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi442N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi456N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P42701

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

More...
PaxDbi
P42701

PeptideAtlas

More...
PeptideAtlasi
P42701

PRoteomics IDEntifications database

More...
PRIDEi
P42701

ProteomicsDB human proteome resource

More...
ProteomicsDBi
55543
55544 [P42701-2]
55545 [P42701-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P42701

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

More...
PhosphoSitePlusi
P42701

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000096996 Expressed in 131 organ(s), highest expression level in blood

CleanEx database of gene expression profiles

More...
CleanExi
HS_IL12RB1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P42701 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P42701 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA074414

<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

Dimer or oligomer; disulfide-linked. Interacts with IL12RB2 to form the high affinity IL12 receptor. Heterodimer with IL23R; in presence of IL23. The heterodimer forms the IL23 receptor.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109808, 18 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-382 Interleukin-12-receptor complex
CPX-383 Interleukin-23-receptor complex

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P42701

Database of interacting proteins

More...
DIPi
DIP-3773N

Protein interaction database and analysis system

More...
IntActi
P42701, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000403103

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P42701

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini46 – 136Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST91
Domaini142 – 234Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST93
Domaini237 – 337Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST101
Domaini338 – 444Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST107
Domaini448 – 542Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST95

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>Motifi222 – 226WSXWS motif5
Motifi577 – 585Box 1 motif9

<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

The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
The box 1 motif is required for JAK interaction and/or activation.

<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

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IJY4 Eukaryota
ENOG410YV8S LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000012431

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000082476

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG052058

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P42701

KEGG Orthology (KO)

More...
KOi
K05063

Identification of Orthologs from Complete Genome Data

More...
OMAi
GMATYSW

Database of Orthologous Groups

More...
OrthoDBi
EOG091G052Z

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P42701

TreeFam database of animal gene trees

More...
TreeFami
TF338613

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00063 FN3, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR003529 Hematopoietin_rcpt_Gp130_CS
IPR013783 Ig-like_fold

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00041 fn3, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00060 FN3, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49265 SSF49265, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50853 FN3, 3 hits
PS01353 HEMATOPO_REC_L_F2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

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

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

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P42701-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MEPLVTWVVP LLFLFLLSRQ GAACRTSECC FQDPPYPDAD SGSASGPRDL
60 70 80 90 100
RCYRISSDRY ECSWQYEGPT AGVSHFLRCC LSSGRCCYFA AGSATRLQFS
110 120 130 140 150
DQAGVSVLYT VTLWVESWAR NQTEKSPEVT LQLYNSVKYE PPLGDIKVSK
160 170 180 190 200
LAGQLRMEWE TPDNQVGAEV QFRHRTPSSP WKLGDCGPQD DDTESCLCPL
210 220 230 240 250
EMNVAQEFQL RRRQLGSQGS SWSKWSSPVC VPPENPPQPQ VRFSVEQLGQ
260 270 280 290 300
DGRRRLTLKE QPTQLELPEG CQGLAPGTEV TYRLQLHMLS CPCKAKATRT
310 320 330 340 350
LHLGKMPYLS GAAYNVAVIS SNQFGPGLNQ TWHIPADTHT EPVALNISVG
360 370 380 390 400
TNGTTMYWPA RAQSMTYCIE WQPVGQDGGL ATCSLTAPQD PDPAGMATYS
410 420 430 440 450
WSRESGAMGQ EKCYYITIFA SAHPEKLTLW STVLSTYHFG GNASAAGTPH
460 470 480 490 500
HVSVKNHSLD SVSVDWAPSL LSTCPGVLKE YVVRCRDEDS KQVSEHPVQP
510 520 530 540 550
TETQVTLSGL RAGVAYTVQV RADTAWLRGV WSQPQRFSIE VQVSDWLIFF
560 570 580 590 600
ASLGSFLSIL LVGVLGYLGL NRAARHLCPP LPTPCASSAI EFPGGKETWQ
610 620 630 640 650
WINPVDFQEE ASLQEALVVE MSWDKGERTE PLEKTELPEG APELALDTEL
660
SLEDGDRCKA KM
Length:662
Mass (Da):73,109
Last modified:November 1, 1995 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i541ADA60F62DA1EF
GO
Isoform 2 (identifier: P42701-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     659-662: KAKM → DR

Show »
Length:660
Mass (Da):72,921
Checksum:i93B9662DA1EF27F0
GO
Isoform 3 (identifier: P42701-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     341-422: EPVALNISVG...CYYITIFASA → DGMISAHCNL...CHHTRLILYF
     423-662: Missing.

Show »
Length:381
Mass (Da):42,366
Checksum:i49C915FAD4B667BC
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6RGM1X6RGM1_HUMAN
Interleukin-12 receptor subunit bet...
IL12RB1
118Annotation 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>
M0QX06M0QX06_HUMAN
Interleukin-12 receptor subunit bet...
IL12RB1
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>
M0R382M0R382_HUMAN
Interleukin-12 receptor subunit bet...
IL12RB1
51Annotation score:

Annotation score:1 out of 5

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0212813P → Q1 PublicationCorresponds to variant dbSNP:rs17884651Ensembl.1
Natural variantiVAR_02128247P → S1 PublicationCorresponds to variant dbSNP:rs17887176EnsemblClinVar.1
Natural variantiVAR_021283156R → H1 PublicationCorresponds to variant dbSNP:rs11575926EnsemblClinVar.1
Natural variantiVAR_015577213R → W in IMD30. 1 PublicationCorresponds to variant dbSNP:rs121434494EnsemblClinVar.1
Natural variantiVAR_021284214Q → R2 PublicationsCorresponds to variant dbSNP:rs11575934EnsemblClinVar.1
Natural variantiVAR_021285339H → Q1 PublicationCorresponds to variant dbSNP:rs17884957Ensembl.1
Natural variantiVAR_011986365M → T1 PublicationCorresponds to variant dbSNP:rs375947EnsemblClinVar.1
Natural variantiVAR_011987378G → R1 PublicationCorresponds to variant dbSNP:rs401502EnsemblClinVar.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_037043341 – 422EPVAL…IFASA → DGMISAHCNLRLPDSRDSPA SASRVAGITGICHHTRLILY F in isoform 3. 2 PublicationsAdd BLAST82
Alternative sequenceiVSP_037044423 – 662Missing in isoform 3. 2 PublicationsAdd BLAST240
Alternative sequenceiVSP_001715659 – 662KAKM → DR in isoform 2. 2 Publications4

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
U03187 mRNA Translation: AAA21340.1
AJ297688
, AJ297689, AJ297690, AJ297691, AJ297692, AJ297693, AJ297694, AJ297695, AJ297696, AJ297697, AJ297698, AJ297699, AJ297700, AJ297701 Genomic DNA Translation: CAC10446.1
AY771996 Genomic DNA Translation: AAV28734.1
AK290423 mRNA Translation: BAF83112.1
AC020904 Genomic DNA No translation available.
CH471106 Genomic DNA Translation: EAW84656.1
BC029121 mRNA Translation: AAH29121.1
BC137404 mRNA Translation: AAI37405.1
BC137406 mRNA Translation: AAI37407.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32957.1 [P42701-3]
CCDS54232.1 [P42701-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I37892

NCBI Reference Sequences

More...
RefSeqi
NP_001276952.1, NM_001290023.1 [P42701-2]
NP_005526.1, NM_005535.2 [P42701-1]
NP_714912.1, NM_153701.2 [P42701-3]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.567294

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000322153; ENSP00000314425; ENSG00000096996 [P42701-3]
ENST00000593993; ENSP00000472165; ENSG00000096996 [P42701-1]
ENST00000600835; ENSP00000470788; ENSG00000096996 [P42701-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3594

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3594

UCSC genome browser

More...
UCSCi
uc002nhw.2 human [P42701-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

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

IL12RB1base

IL12RB1 mutation db

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U03187 mRNA Translation: AAA21340.1
AJ297688
, AJ297689, AJ297690, AJ297691, AJ297692, AJ297693, AJ297694, AJ297695, AJ297696, AJ297697, AJ297698, AJ297699, AJ297700, AJ297701 Genomic DNA Translation: CAC10446.1
AY771996 Genomic DNA Translation: AAV28734.1
AK290423 mRNA Translation: BAF83112.1
AC020904 Genomic DNA No translation available.
CH471106 Genomic DNA Translation: EAW84656.1
BC029121 mRNA Translation: AAH29121.1
BC137404 mRNA Translation: AAI37405.1
BC137406 mRNA Translation: AAI37407.1
CCDSiCCDS32957.1 [P42701-3]
CCDS54232.1 [P42701-1]
PIRiI37892
RefSeqiNP_001276952.1, NM_001290023.1 [P42701-2]
NP_005526.1, NM_005535.2 [P42701-1]
NP_714912.1, NM_153701.2 [P42701-3]
UniGeneiHs.567294

3D structure databases

ProteinModelPortaliP42701
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109808, 18 interactors
ComplexPortaliCPX-382 Interleukin-12-receptor complex
CPX-383 Interleukin-23-receptor complex
CORUMiP42701
DIPiDIP-3773N
IntActiP42701, 5 interactors
STRINGi9606.ENSP00000403103

PTM databases

iPTMnetiP42701
PhosphoSitePlusiP42701

Polymorphism and mutation databases

BioMutaiIL12RB1
DMDMi1170462

Proteomic databases

MaxQBiP42701
PaxDbiP42701
PeptideAtlasiP42701
PRIDEiP42701
ProteomicsDBi55543
55544 [P42701-2]
55545 [P42701-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3594
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322153; ENSP00000314425; ENSG00000096996 [P42701-3]
ENST00000593993; ENSP00000472165; ENSG00000096996 [P42701-1]
ENST00000600835; ENSP00000470788; ENSG00000096996 [P42701-1]
GeneIDi3594
KEGGihsa:3594
UCSCiuc002nhw.2 human [P42701-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3594
DisGeNETi3594
EuPathDBiHostDB:ENSG00000096996.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
IL12RB1
HGNCiHGNC:5971 IL12RB1
HPAiHPA074414
MalaCardsiIL12RB1
MIMi601604 gene
614891 phenotype
neXtProtiNX_P42701
OpenTargetsiENSG00000096996
Orphaneti319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
186 Primary biliary cholangitis
PharmGKBiPA29786

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJY4 Eukaryota
ENOG410YV8S LUCA
GeneTreeiENSGT00390000012431
HOGENOMiHOG000082476
HOVERGENiHBG052058
InParanoidiP42701
KOiK05063
OMAiGMATYSW
OrthoDBiEOG091G052Z
PhylomeDBiP42701
TreeFamiTF338613

Enzyme and pathway databases

ReactomeiR-HSA-9020591 Interleukin-12 signaling
R-HSA-9020933 Interleukin-23 signaling
SignaLinkiP42701
SIGNORiP42701

Miscellaneous databases

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

More...
ChiTaRSi
IL12RB1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Interleukin_12_receptor,_beta_1_subunit

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

More...
GenomeRNAii
3594

Protein Ontology

More...
PROi
PR:P42701

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000096996 Expressed in 131 organ(s), highest expression level in blood
CleanExiHS_IL12RB1
ExpressionAtlasiP42701 baseline and differential
GenevisibleiP42701 HS

Family and domain databases

CDDicd00063 FN3, 1 hit
Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR003529 Hematopoietin_rcpt_Gp130_CS
IPR013783 Ig-like_fold
PfamiView protein in Pfam
PF00041 fn3, 1 hit
SMARTiView protein in SMART
SM00060 FN3, 1 hit
SUPFAMiSSF49265 SSF49265, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 3 hits
PS01353 HEMATOPO_REC_L_F2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiI12R1_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: P42701
Secondary accession number(s): A8K308
, B2RPF1, B7ZKK3, Q8N6Q7
<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: November 1, 1995
Last sequence update: November 1, 1995
Last modified: November 7, 2018
This is version 180 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again