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Protein

Granulocyte-macrophage colony-stimulating factor receptor subunit alpha

Gene

CSF2RA

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

Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.

Miscellaneous

The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.

<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
  • protein tyrosine kinase activity Source: Reactome
  • Ras guanyl-nucleotide exchange factor activity Source: Reactome
  • signaling receptor activity Source: ProtInc

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-512988 Interleukin-3, Interleukin-5 and GM-CSF signaling
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5683826 Surfactant metabolism
R-HSA-5688849 Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
R-HSA-5688890 Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
R-HSA-912526 Interleukin receptor SHC signaling

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

More...
SignaLinki
P15509

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P15509

<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:
Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
Short name:
GM-CSF-R-alpha
Short name:
GMCSFR-alpha
Short name:
GMR-alpha
Alternative name(s):
CDw116
CD_antigen: CD116
<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:CSF2RA
Synonyms:CSF2R, CSF2RY
<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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000198223.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2435 CSF2RA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
306250 gene
425000 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P15509

<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 domaini23 – 320ExtracellularSequence analysisAdd BLAST298
<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>Transmembranei321 – 346HelicalSequence analysisAdd BLAST26
Topological domaini347 – 400CytoplasmicSequence analysisAdd BLAST54

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

<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

Pulmonary surfactant metabolism dysfunction 4 (SMDP4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.
See also OMIM:300770
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_058507196G → R in SMDP4. 1 PublicationCorresponds to variant dbSNP:rs137852353EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1438

MalaCards human disease database

More...
MalaCardsi
CSF2RA
MIMi300770 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198223

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

More...
Orphaneti
264675 Hereditary pulmonary alveolar proteinosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26938

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2364169

Drug and drug target database

More...
DrugBanki
DB05194 KB002
DB05386 recombinant human GM-CSF
DB00020 Sargramostim

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
1707

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CSF2RA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
121509

<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 – 22Add BLAST22
<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_000001087223 – 400Granulocyte-macrophage colony-stimulating factor receptor subunit alphaAdd BLAST378

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi46N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi54N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi99N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi123N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi126 ↔ 136By similarity
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi165 ↔ 178By similarity
Glycosylationi182N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi223N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi229N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi272N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi305N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P15509

PeptideAtlas

More...
PeptideAtlasi
P15509

PRoteomics IDEntifications database

More...
PRIDEi
P15509

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53157
53158 [P15509-2]
53159 [P15509-3]
53160 [P15509-4]
53161 [P15509-5]
53162 [P15509-6]
53163 [P15509-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P15509

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

More...
PhosphoSitePlusi
P15509

<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
ENSG00000198223 Expressed in 145 organ(s), highest expression level in blood

CleanEx database of gene expression profiles

More...
CleanExi
HS_CSF2RA

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P15509 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P15509 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB016148

<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

Heterodimer of an alpha and a beta subunit. The beta subunit is common to the IL3, IL5 and GM-CSF receptors. The signaling GM-CSF receptor complex is a dodecamer of two head-to-head hexamers of two alpha, two beta, and two ligand subunits.1 Publication

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

WithEntry#Exp.IntActNotes
FATE1Q969F03EBI-1763264,EBI-743099

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107825, 6 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P15509

Database of interacting proteins

More...
DIPi
DIP-635N

Protein interaction database and analysis system

More...
IntActi
P15509, 5 interactors

<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

1400
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
P15509

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

More...
SMRi
P15509

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
P15509

<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>Domaini220 – 320Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST101

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>Motifi306 – 310WSXWS motif5
Motifi355 – 363Box 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

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00520000055993

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000004539

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG103561

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P15509

KEGG Orthology (KO)

More...
KOi
K05066

Identification of Orthologs from Complete Genome Data

More...
OMAi
NWSSWSE

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0935

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P15509

TreeFam database of animal gene trees

More...
TreeFami
TF331549

Family and domain databases

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
IPR013783 Ig-like_fold
IPR003532 Short_hematopoietin_rcpt_2_CS
IPR015321 TypeI_recpt_CBD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF09240 IL6Ra-bind, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49265 SSF49265, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50853 FN3, 1 hit
PS01356 HEMATOPO_REC_S_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 (8+)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 8 <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 8 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P15509-1) [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
MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD
60 70 80 90 100
CQENTTFSKC FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT
110 120 130 140 150
SQRGFQQKLL YPNSGREGTA AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY
160 170 180 190 200
FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL DNLSGLTSRN YFLVNGTSRE
210 220 230 240 250
IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP RTYQKLSYLD
260 270 280 290 300
FQYQLDVHRK NTQPGTENLL INVSGDLENR YNFPSSEPRA KHSVKIRAAD
310 320 330 340 350
VRILNWSSWS EAIEFGSDDG NLGSVYIYVL LIVGTLVCGI VLGFLFKRFL
360 370 380 390 400
RIQRLFPPVP QIKDKLNDNH EVEDEIIWEE FTPEEGKGYR EEVLTVKEIT
Length:400
Mass (Da):46,207
Last modified:April 1, 1990 - 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:iD9025B981E41311D
GO
Isoform 2 (identifier: P15509-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     376-400: IIWEEFTPEEGKGYREEVLTVKEIT → MGPQRHHRCGWNLYPTPGPSPGSGSSPRLGSESSL

Show »
Length:410
Mass (Da):46,901
Checksum:iC95FD645760C19DB
GO
Isoform 3 (identifier: P15509-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     318-333: DDGNLGSVYIYVLLIV → LGYSGCSRQFHRSKTN
     334-400: Missing.

Show »
Length:333
Mass (Da):38,439
Checksum:i8F13C90D460D6255
GO
Isoform 4 (identifier: P15509-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     271-286: INVSGDLENRYNFPSS → VVLTTGTSALCTFMCS
     287-400: Missing.

Show »
Length:286
Mass (Da):32,915
Checksum:i4222498F3A1F31F1
GO
Isoform 5 (identifier: P15509-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     316-400: GSDDGNLGSV...EEVLTVKEIT → DHLGGIHPRG...NLYIIFYVFI

Show »
Length:377
Mass (Da):43,545
Checksum:iCAC52B3055225400
GO
Isoform 6 (identifier: P15509-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     216-233: ERFNPPSNVTVRCNTTHC → GSLGYSGCSRQFHRSKTN
     234-400: Missing.

Show »
Length:233
Mass (Da):26,648
Checksum:iE73741ADEDD70478
GO
Isoform 7 (identifier: P15509-7) [UniParc]FASTAAdd to basket
Also known as: Alu-GMRalpha

The sequence of this isoform differs from the canonical sequence as follows:
     315-315: F → FGSHSVTQAGVQWHNLGSLQPPSPRLKRFSCLRLP

Show »
Length:434
Mass (Da):49,944
Checksum:i8190BD7AF28C93EC
GO
Isoform 8 (identifier: P15509-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-133: Missing.

Show »
Length:267
Mass (Da):31,101
Checksum:iFBF60C31AC0E0B3A
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
F2Z3C9F2Z3C9_HUMAN
Granulocyte-macrophage colony-stimu...
CSF2RA
285Annotation 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>
J3JS74J3JS74_HUMAN
Granulocyte-macrophage colony-stimu...
CSF2RA
238Annotation 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>
V9GYE9V9GYE9_HUMAN
Granulocyte-macrophage colony-stimu...
CSF2RA
90Annotation 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 AAA60962 differs from that shown.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058507196G → R in SMDP4. 1 PublicationCorresponds to variant dbSNP:rs137852353EnsemblClinVar.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_0442721 – 133Missing in isoform 8. 1 PublicationAdd BLAST133
Alternative sequenceiVSP_001663216 – 233ERFNP…NTTHC → GSLGYSGCSRQFHRSKTN in isoform 6. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_001664234 – 400Missing in isoform 6. 1 PublicationAdd BLAST167
Alternative sequenceiVSP_001665271 – 286INVSG…NFPSS → VVLTTGTSALCTFMCS in isoform 4. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_001666287 – 400Missing in isoform 4. 1 PublicationAdd BLAST114
Alternative sequenceiVSP_043715315F → FGSHSVTQAGVQWHNLGSLQ PPSPRLKRFSCLRLP in isoform 7. 1 Publication1
Alternative sequenceiVSP_001667316 – 400GSDDG…VKEIT → DHLGGIHPRGRERLPRRGLD REGNYLRPRGCRNGMDISAS ATRGNCFLDDAVNLYIIFYV FI in isoform 5. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_001668318 – 333DDGNL…VLLIV → LGYSGCSRQFHRSKTN in isoform 3. 2 PublicationsAdd BLAST16
Alternative sequenceiVSP_001669334 – 400Missing in isoform 3. 2 PublicationsAdd BLAST67
Alternative sequenceiVSP_001670376 – 400IIWEE…VKEIT → MGPQRHHRCGWNLYPTPGPS PGSGSSPRLGSESSL in isoform 2. 1 PublicationAdd BLAST25

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
X17648 mRNA Translation: CAA35638.1
D26628 Genomic DNA Translation: BAA05656.1
M64445 mRNA Translation: AAA35908.1
X54935 mRNA Translation: CAA38697.1
M73832 mRNA Translation: AAA35909.1
L29348 mRNA Translation: AAA60961.1
L29349 mRNA Translation: AAA60962.1 Sequence problems.
U93096 mRNA Translation: AAB51535.1
DQ841258 mRNA Translation: ABI32309.1
AK293086 mRNA Translation: BAF85775.1
AK301395 mRNA Translation: BAG62930.1
BX649553 Genomic DNA No translation available.
BC002635 mRNA Translation: AAH02635.1
BC071835 mRNA Translation: AAH71835.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS35190.1 [P15509-5]
CCDS35191.1 [P15509-1]
CCDS35192.1 [P15509-3]
CCDS35193.1 [P15509-6]
CCDS55359.1 [P15509-7]
CCDS55360.1 [P15509-2]
CCDS55361.1 [P15509-8]

Protein sequence database of the Protein Information Resource

More...
PIRi
S06945
S13684
S50039
S50040

NCBI Reference Sequences

More...
RefSeqi
NP_001155001.1, NM_001161529.1 [P15509-1]
NP_001155002.1, NM_001161530.1 [P15509-7]
NP_001155003.1, NM_001161531.1 [P15509-2]
NP_001155004.1, NM_001161532.1 [P15509-8]
NP_006131.2, NM_006140.4 [P15509-1]
NP_758448.1, NM_172245.2 [P15509-1]
NP_758449.1, NM_172246.2 [P15509-5]
NP_758450.1, NM_172247.2 [P15509-3]
NP_758452.1, NM_172249.2 [P15509-6]
XP_011543920.1, XM_011545618.2 [P15509-2]
XP_011543921.1, XM_011545619.1 [P15509-1]
XP_011543928.1, XM_011545626.1 [P15509-3]
XP_011543929.1, XM_011545627.2 [P15509-3]
XP_011543930.1, XM_011545628.2 [P15509-3]
XP_011544467.1, XM_011546165.2 [P15509-2]
XP_011544468.1, XM_011546166.1 [P15509-1]
XP_011544475.1, XM_011546173.1 [P15509-3]
XP_011544476.1, XM_011546174.2 [P15509-3]
XP_011544477.1, XM_011546175.2 [P15509-3]
XP_016884777.1, XM_017029288.1 [P15509-3]
XP_016885518.1, XM_017030029.1 [P15509-3]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.520937

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000355432; ENSP00000347606; ENSG00000198223 [P15509-5]
ENST00000355805; ENSP00000348058; ENSG00000198223 [P15509-6]
ENST00000381500; ENSP00000370911; ENSG00000198223 [P15509-3]
ENST00000381509; ENSP00000370920; ENSG00000198223 [P15509-2]
ENST00000381524; ENSP00000370935; ENSG00000198223 [P15509-1]
ENST00000381529; ENSP00000370940; ENSG00000198223 [P15509-1]
ENST00000417535; ENSP00000394227; ENSG00000198223 [P15509-7]
ENST00000432318; ENSP00000416437; ENSG00000198223 [P15509-1]
ENST00000501036; ENSP00000440491; ENSG00000198223 [P15509-8]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1438

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1438

UCSC genome browser

More...
UCSCi
uc004cpn.3 human [P15509-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
X17648 mRNA Translation: CAA35638.1
D26628 Genomic DNA Translation: BAA05656.1
M64445 mRNA Translation: AAA35908.1
X54935 mRNA Translation: CAA38697.1
M73832 mRNA Translation: AAA35909.1
L29348 mRNA Translation: AAA60961.1
L29349 mRNA Translation: AAA60962.1 Sequence problems.
U93096 mRNA Translation: AAB51535.1
DQ841258 mRNA Translation: ABI32309.1
AK293086 mRNA Translation: BAF85775.1
AK301395 mRNA Translation: BAG62930.1
BX649553 Genomic DNA No translation available.
BC002635 mRNA Translation: AAH02635.1
BC071835 mRNA Translation: AAH71835.1
CCDSiCCDS35190.1 [P15509-5]
CCDS35191.1 [P15509-1]
CCDS35192.1 [P15509-3]
CCDS35193.1 [P15509-6]
CCDS55359.1 [P15509-7]
CCDS55360.1 [P15509-2]
CCDS55361.1 [P15509-8]
PIRiS06945
S13684
S50039
S50040
RefSeqiNP_001155001.1, NM_001161529.1 [P15509-1]
NP_001155002.1, NM_001161530.1 [P15509-7]
NP_001155003.1, NM_001161531.1 [P15509-2]
NP_001155004.1, NM_001161532.1 [P15509-8]
NP_006131.2, NM_006140.4 [P15509-1]
NP_758448.1, NM_172245.2 [P15509-1]
NP_758449.1, NM_172246.2 [P15509-5]
NP_758450.1, NM_172247.2 [P15509-3]
NP_758452.1, NM_172249.2 [P15509-6]
XP_011543920.1, XM_011545618.2 [P15509-2]
XP_011543921.1, XM_011545619.1 [P15509-1]
XP_011543928.1, XM_011545626.1 [P15509-3]
XP_011543929.1, XM_011545627.2 [P15509-3]
XP_011543930.1, XM_011545628.2 [P15509-3]
XP_011544467.1, XM_011546165.2 [P15509-2]
XP_011544468.1, XM_011546166.1 [P15509-1]
XP_011544475.1, XM_011546173.1 [P15509-3]
XP_011544476.1, XM_011546174.2 [P15509-3]
XP_011544477.1, XM_011546175.2 [P15509-3]
XP_016884777.1, XM_017029288.1 [P15509-3]
XP_016885518.1, XM_017030029.1 [P15509-3]
UniGeneiHs.520937

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
4NKQX-ray3.30C113-400[»]
4RS1X-ray2.68B35-315[»]
ProteinModelPortaliP15509
SMRiP15509
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107825, 6 interactors
CORUMiP15509
DIPiDIP-635N
IntActiP15509, 5 interactors

Chemistry databases

ChEMBLiCHEMBL2364169
DrugBankiDB05194 KB002
DB05386 recombinant human GM-CSF
DB00020 Sargramostim
GuidetoPHARMACOLOGYi1707

PTM databases

iPTMnetiP15509
PhosphoSitePlusiP15509

Polymorphism and mutation databases

BioMutaiCSF2RA
DMDMi121509

Proteomic databases

MaxQBiP15509
PeptideAtlasiP15509
PRIDEiP15509
ProteomicsDBi53157
53158 [P15509-2]
53159 [P15509-3]
53160 [P15509-4]
53161 [P15509-5]
53162 [P15509-6]
53163 [P15509-7]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1438
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355432; ENSP00000347606; ENSG00000198223 [P15509-5]
ENST00000355805; ENSP00000348058; ENSG00000198223 [P15509-6]
ENST00000381500; ENSP00000370911; ENSG00000198223 [P15509-3]
ENST00000381509; ENSP00000370920; ENSG00000198223 [P15509-2]
ENST00000381524; ENSP00000370935; ENSG00000198223 [P15509-1]
ENST00000381529; ENSP00000370940; ENSG00000198223 [P15509-1]
ENST00000417535; ENSP00000394227; ENSG00000198223 [P15509-7]
ENST00000432318; ENSP00000416437; ENSG00000198223 [P15509-1]
ENST00000501036; ENSP00000440491; ENSG00000198223 [P15509-8]
GeneIDi1438
KEGGihsa:1438
UCSCiuc004cpn.3 human [P15509-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1438
DisGeNETi1438
EuPathDBiHostDB:ENSG00000198223.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CSF2RA
HGNCiHGNC:2435 CSF2RA
HPAiCAB016148
MalaCardsiCSF2RA
MIMi300770 phenotype
306250 gene
425000 gene
neXtProtiNX_P15509
OpenTargetsiENSG00000198223
Orphaneti264675 Hereditary pulmonary alveolar proteinosis
PharmGKBiPA26938

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00520000055993
HOGENOMiHOG000004539
HOVERGENiHBG103561
InParanoidiP15509
KOiK05066
OMAiNWSSWSE
OrthoDBiEOG091G0935
PhylomeDBiP15509
TreeFamiTF331549

Enzyme and pathway databases

ReactomeiR-HSA-512988 Interleukin-3, Interleukin-5 and GM-CSF signaling
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5683826 Surfactant metabolism
R-HSA-5688849 Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
R-HSA-5688890 Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)
R-HSA-912526 Interleukin receptor SHC signaling
SignaLinkiP15509
SIGNORiP15509

Miscellaneous databases

EvolutionaryTraceiP15509

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

More...
GenomeRNAii
1438

Protein Ontology

More...
PROi
PR:P15509

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198223 Expressed in 145 organ(s), highest expression level in blood
CleanExiHS_CSF2RA
ExpressionAtlasiP15509 baseline and differential
GenevisibleiP15509 HS

Family and domain databases

Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR003532 Short_hematopoietin_rcpt_2_CS
IPR015321 TypeI_recpt_CBD
PfamiView protein in Pfam
PF09240 IL6Ra-bind, 1 hit
SUPFAMiSSF49265 SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
PS01356 HEMATOPO_REC_S_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 nameiCSF2R_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: P15509
Secondary accession number(s): A7J003
, A8KAM1, B4DW68, J3JS76, J3JS77, O00207, Q14429, Q14430, Q14431, Q16564
<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: April 1, 1990
Last sequence update: April 1, 1990
Last modified: December 5, 2018
This is version 192 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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