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Protein

Granulocyte-macrophage colony-stimulating factor receptor subunit alpha

Gene

CSF2RA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

ReactomeiR-HSA-392451 G beta:gamma signalling through PI3Kgamma
R-HSA-512988 Interleukin-3, 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

Names & Taxonomyi

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
Gene namesi
Name:CSF2RA
Synonyms:CSF2R, CSF2RY
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000198223.15
HGNCiHGNC:2435 CSF2RA
MIMi306250 gene
425000 gene
neXtProtiNX_P15509

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

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

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
Natural variantiVAR_058507196G → R in SMDP4. 1 PublicationCorresponds to variant dbSNP:rs137852353EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1438
MalaCardsiCSF2RA
MIMi300770 phenotype
OpenTargetsiENSG00000198223
Orphaneti264675 Congenital pulmonary alveolar proteinosis
PharmGKBiPA26938

Chemistry databases

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

Polymorphism and mutation databases

BioMutaiCSF2RA
DMDMi121509

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Add BLAST22
ChainiPRO_000001087223 – 400Granulocyte-macrophage colony-stimulating factor receptor subunit alphaAdd BLAST378

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi46N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi54N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi99N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi123N-linked (GlcNAc...) asparagineSequence analysis1
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

MaxQBiP15509
PeptideAtlasiP15509
PRIDEiP15509

PTM databases

iPTMnetiP15509
PhosphoSitePlusiP15509

Expressioni

Gene expression databases

BgeeiENSG00000198223
CleanExiHS_CSF2RA
ExpressionAtlasiP15509 baseline and differential
GenevisibleiP15509 HS

Organism-specific databases

HPAiCAB016148

Interactioni

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

Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

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

Structurei

Secondary structure

1400
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi42 – 44Combined sources3
Beta strandi46 – 48Combined sources3
Beta strandi59 – 67Combined sources9
Beta strandi69 – 72Combined sources4
Beta strandi80 – 82Combined sources3
Beta strandi89 – 97Combined sources9
Beta strandi122 – 129Combined sources8
Turni130 – 132Combined sources3
Beta strandi133 – 139Combined sources7
Beta strandi149 – 155Combined sources7
Beta strandi166 – 181Combined sources16
Beta strandi188 – 197Combined sources10
Beta strandi199 – 201Combined sources3
Beta strandi206 – 211Combined sources6
Helixi212 – 215Combined sources4
Beta strandi222 – 227Combined sources6
Beta strandi233 – 238Combined sources6
Helixi248 – 250Combined sources3
Beta strandi251 – 259Combined sources9
Beta strandi260 – 262Combined sources3
Beta strandi268 – 274Combined sources7
Beta strandi280 – 283Combined sources4
Beta strandi292 – 300Combined sources9
Turni301 – 303Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NKQX-ray3.30C113-400[»]
4RS1X-ray2.68B35-315[»]
ProteinModelPortaliP15509
SMRiP15509
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP15509

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini220 – 320Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST101

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi306 – 310WSXWS motif5
Motifi355 – 363Box 1 motif9

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.

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00520000055993
HOGENOMiHOG000004539
HOVERGENiHBG103561
InParanoidiP15509
KOiK05066
OMAiYLDFQYQ
OrthoDBiEOG091G0935
PhylomeDBiP15509
TreeFamiTF331549

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

Sequences (8)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

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
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiCSF2R_HUMAN
AccessioniPrimary (citable) accession number: P15509
Secondary accession number(s): A7J003
, A8KAM1, B4DW68, J3JS76, J3JS77, O00207, Q14429, Q14430, Q14431, Q16564
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: May 23, 2018
This is version 188 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health