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P15509

- CSF2R_HUMAN

UniProt

P15509 - CSF2R_HUMAN

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Protein

Granulocyte-macrophage colony-stimulating factor receptor subunit alpha

Gene
CSF2RA, CSF2R, CSF2RY
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.

GO - Molecular functioni

  1. cytokine receptor activity Source: InterPro
  2. receptor activity Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

ReactomeiREACT_23837. Interleukin-3, 5 and GM-CSF signaling.
REACT_23891. Interleukin receptor SHC signaling.
SignaLinkiP15509.

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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:2435. CSF2RA.

Subcellular locationi

Isoform 3 : Secreted Inferred
Isoform 4 : Secreted Inferred
Isoform 6 : Secreted Inferred

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 320298Extracellular Reviewed predictionAdd
BLAST
Transmembranei321 – 34626Helical; Reviewed predictionAdd
BLAST
Topological domaini347 – 40054Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-SubCell
  2. integral component of plasma membrane Source: ProtInc
  3. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti196 – 1961G → R in SMDP4. 1 Publication
VAR_058507

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi300770. phenotype.
Orphaneti264675. Congenital pulmonary alveolar proteinosis.
PharmGKBiPA26938.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Add
BLAST
Chaini23 – 400378Granulocyte-macrophage colony-stimulating factor receptor subunit alphaPRO_0000010872Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi46 – 461N-linked (GlcNAc...) Reviewed prediction
Glycosylationi54 – 541N-linked (GlcNAc...) Reviewed prediction
Glycosylationi99 – 991N-linked (GlcNAc...) Reviewed prediction
Glycosylationi123 – 1231N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi126 ↔ 136 By similarity
Glycosylationi135 – 1351N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi165 ↔ 178 By similarity
Glycosylationi182 – 1821N-linked (GlcNAc...) Reviewed prediction
Glycosylationi195 – 1951N-linked (GlcNAc...) Reviewed prediction
Glycosylationi223 – 2231N-linked (GlcNAc...) Reviewed prediction
Glycosylationi229 – 2291N-linked (GlcNAc...)1 Publication
Glycosylationi272 – 2721N-linked (GlcNAc...) Reviewed prediction
Glycosylationi305 – 3051N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP15509.
PaxDbiP15509.
PRIDEiP15509.

PTM databases

PhosphoSiteiP15509.

Expressioni

Gene expression databases

ArrayExpressiP15509.
BgeeiP15509.
CleanExiHS_CSF2RA.
GenevestigatoriP15509.

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

Protein-protein interaction databases

BioGridi107825. 4 interactions.
DIPiDIP-635N.
IntActiP15509. 2 interactions.
MINTiMINT-7242386.
STRINGi9606.ENSP00000370935.

Structurei

Secondary structure

1
400
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi226 – 2283
Beta strandi230 – 2356
Beta strandi249 – 2546
Beta strandi269 – 2713
Beta strandi275 – 2773
Beta strandi295 – 3006

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3CXEX-ray3.30C218-300[»]
ProteinModelPortaliP15509.
SMRiP15509. Positions 110-316.

Miscellaneous databases

EvolutionaryTraceiP15509.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini220 – 320101Fibronectin type-IIIAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi306 – 3105WSXWS motif
Motifi355 – 3639Box 1 motif

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

eggNOGiNOG74889.
HOGENOMiHOG000004539.
HOVERGENiHBG103561.
KOiK05066.
OMAiNTTYLEC.
OrthoDBiEOG73BVCJ.
PhylomeDBiP15509.
TreeFamiTF331549.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR015321. IL-6_rcpt_alpha-bd.
IPR003532. Short_hematopoietin_rcpt_2_CS.
[Graphical view]
PfamiPF09240. IL6Ra-bind. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 1 hit.
PS01356. HEMATOPO_REC_S_F2. 1 hit.
[Graphical view]

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. Align

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

MLLLVTSLLL CELPHPAFLL IPEKSDLRTV APASSLNVRF DSRTMNLSWD    50
CQENTTFSKC FLTDKKNRVV EPRLSNNECS CTFREICLHE GVTFEVHVNT 100
SQRGFQQKLL YPNSGREGTA AQNFSCFIYN ADLMNCTWAR GPTAPRDVQY 150
FLYIRNSKRR REIRCPYYIQ DSGTHVGCHL DNLSGLTSRN YFLVNGTSRE 200
IGIQFFDSLL DTKKIERFNP PSNVTVRCNT THCLVRWKQP RTYQKLSYLD 250
FQYQLDVHRK NTQPGTENLL INVSGDLENR YNFPSSEPRA KHSVKIRAAD 300
VRILNWSSWS EAIEFGSDDG NLGSVYIYVL LIVGTLVCGI VLGFLFKRFL 350
RIQRLFPPVP QIKDKLNDNH EVEDEIIWEE FTPEEGKGYR EEVLTVKEIT 400
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 AAA60962.1 differs from that shown. Reason:

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti196 – 1961G → R in SMDP4. 1 Publication
VAR_058507

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 133133Missing in isoform 8. VSP_044272Add
BLAST
Alternative sequencei216 – 23318ERFNP…NTTHC → GSLGYSGCSRQFHRSKTN in isoform 6. VSP_001663Add
BLAST
Alternative sequencei234 – 400167Missing in isoform 6. VSP_001664Add
BLAST
Alternative sequencei271 – 28616INVSG…NFPSS → VVLTTGTSALCTFMCS in isoform 4. VSP_001665Add
BLAST
Alternative sequencei287 – 400114Missing in isoform 4. VSP_001666Add
BLAST
Alternative sequencei315 – 3151F → FGSHSVTQAGVQWHNLGSLQ PPSPRLKRFSCLRLP in isoform 7. VSP_043715
Alternative sequencei316 – 40085GSDDG…VKEIT → DHLGGIHPRGRERLPRRGLD REGNYLRPRGCRNGMDISAS ATRGNCFLDDAVNLYIIFYV FI in isoform 5. VSP_001667Add
BLAST
Alternative sequencei318 – 33316DDGNL…VLLIV → LGYSGCSRQFHRSKTN in isoform 3. VSP_001668Add
BLAST
Alternative sequencei334 – 40067Missing in isoform 3. VSP_001669Add
BLAST
Alternative sequencei376 – 40025IIWEE…VKEIT → MGPQRHHRCGWNLYPTPGPS PGSGSSPRLGSESSL in isoform 2. VSP_001670Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Translation: CAI95727.1.
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]
UniGeneiHs.520937.

Genome annotation databases

EnsembliENST00000355432; ENSP00000347606; ENSG00000198223. [P15509-5]
ENST00000355805; ENSP00000348058; ENSG00000198223. [P15509-6]
ENST00000361536; ENSP00000354836; ENSG00000198223. [P15509-3]
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.2. human. [P15509-1]
uc010ncv.2. human. [P15509-7]
uc011mhb.1. human. [P15509-2]

Polymorphism databases

DMDMi121509.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Translation: CAI95727.1 .
BC002635 mRNA. Translation: AAH02635.1 .
BC071835 mRNA. Translation: AAH71835.1 .
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 ]
PIRi S06945.
S13684.
S50039.
S50040.
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 ]
UniGenei Hs.520937.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3CXE X-ray 3.30 C 218-300 [» ]
ProteinModelPortali P15509.
SMRi P15509. Positions 110-316.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107825. 4 interactions.
DIPi DIP-635N.
IntActi P15509. 2 interactions.
MINTi MINT-7242386.
STRINGi 9606.ENSP00000370935.

Chemistry

ChEMBLi CHEMBL2364169.
DrugBanki DB00020. Sargramostim.
GuidetoPHARMACOLOGYi 1707.

PTM databases

PhosphoSitei P15509.

Polymorphism databases

DMDMi 121509.

Proteomic databases

MaxQBi P15509.
PaxDbi P15509.
PRIDEi P15509.

Protocols and materials databases

DNASUi 1438.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000355432 ; ENSP00000347606 ; ENSG00000198223 . [P15509-5 ]
ENST00000355805 ; ENSP00000348058 ; ENSG00000198223 . [P15509-6 ]
ENST00000361536 ; ENSP00000354836 ; ENSG00000198223 . [P15509-3 ]
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 ]
GeneIDi 1438.
KEGGi hsa:1438.
UCSCi uc004cpn.2. human. [P15509-1 ]
uc010ncv.2. human. [P15509-7 ]
uc011mhb.1. human. [P15509-2 ]

Organism-specific databases

CTDi 1438.
GeneCardsi GC0XP001347.
HGNCi HGNC:2435. CSF2RA.
HPAi CAB016148.
MIMi 300770. phenotype.
306250. gene.
425000. gene.
neXtProti NX_P15509.
Orphaneti 264675. Congenital pulmonary alveolar proteinosis.
PharmGKBi PA26938.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG74889.
HOGENOMi HOG000004539.
HOVERGENi HBG103561.
KOi K05066.
OMAi NTTYLEC.
OrthoDBi EOG73BVCJ.
PhylomeDBi P15509.
TreeFami TF331549.

Enzyme and pathway databases

Reactomei REACT_23837. Interleukin-3, 5 and GM-CSF signaling.
REACT_23891. Interleukin receptor SHC signaling.
SignaLinki P15509.

Miscellaneous databases

EvolutionaryTracei P15509.
GenomeRNAii 1438.
NextBioi 35534741.
PROi P15509.
SOURCEi Search...

Gene expression databases

ArrayExpressi P15509.
Bgeei P15509.
CleanExi HS_CSF2RA.
Genevestigatori P15509.

Family and domain databases

Gene3Di 2.60.40.10. 2 hits.
InterProi IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR015321. IL-6_rcpt_alpha-bd.
IPR003532. Short_hematopoietin_rcpt_2_CS.
[Graphical view ]
Pfami PF09240. IL6Ra-bind. 1 hit.
[Graphical view ]
SMARTi SM00060. FN3. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 2 hits.
PROSITEi PS50853. FN3. 1 hit.
PS01356. HEMATOPO_REC_S_F2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Expression cloning of a receptor for human granulocyte-macrophage colony-stimulating factor."
    Gearing D.P., King J.A., Gough N.M., Nicola N.A.
    EMBO J. 8:3667-3676(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Placenta.
  2. "Structure of the gene encoding the alpha subunit of the human granulocyte-macrophage colony stimulating factor receptor. Implications for the evolution of the cytokine receptor superfamily."
    Nakagawa Y., Kosugi H., Miyajima A., Arai K., Yokota T.
    J. Biol. Chem. 269:10905-10912(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  3. "A functional isoform of the human granulocyte/macrophage colony-stimulating factor receptor has an unusual cytoplasmic domain."
    Crosier K.E., Wong G.G., Mathey-Prevot B., Nathan D.G., Sieff C.A.
    Proc. Natl. Acad. Sci. U.S.A. 88:7744-7748(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  4. "Cloning of a potentially soluble receptor for human GM-CSF."
    Ashworth A., Kraft A.
    Nucleic Acids Res. 18:7178-7178(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    Tissue: Placenta.
  5. "Identification and molecular cloning of a soluble human granulocyte-macrophage colony-stimulating factor receptor."
    Raines M.A., Liu L., Quan S.G., Joe V., DiPersio J.F., Golde D.W.
    Proc. Natl. Acad. Sci. U.S.A. 88:8203-8207(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
  6. "Cloning and sequencing of the cDNAs encoding two alternative splicing-derived variants of the alpha subunit of the granulocyte-macrophage colony-stimulating factor receptor."
    Hu X., Emanuel P.D., Zuckerman K.S.
    Biochim. Biophys. Acta 1223:306-308(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
    Tissue: Blood.
  7. "Cloning and sequencing of the cDNA variant with 397 bp missing for the GM-CSF receptor alpha subunit."
    Hu X., Zuckerman K.S.
    Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6).
  8. "Discovery and characterization of a novel splice variant of the GM-CSF receptor alpha subunit."
    Pelley J.L., Nicholls C.D., Beattie T.L., Brown C.B.
    Exp. Hematol. 35:1483-1494(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7).
  9. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 8).
    Tissue: Synovium and Uterus.
  10. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  11. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta and Uterus.
  12. "Arrangement and localization of the human GM-CSF receptor alpha chain gene CSF2RA within the X-Y pseudoautosomal region."
    Rappold G., Willson T.A., Henke A., Gough N.M.
    Genomics 14:455-461(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE OF 376-400.
  13. "Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1."
    Martinez-Moczygemba M., Doan M.L., Elidemir O., Fan L.L., Cheung S.W., Lei J.T., Moore J.P., Tavana G., Lewis L.R., Zhu Y., Muzny D.M., Gibbs R.A., Huston D.P.
    J. Exp. Med. 205:2711-2716(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SMDP4.
  14. "The structure of the GM-CSF receptor complex reveals a distinct mode of cytokine receptor activation."
    Hansen G., Hercus T.R., McClure B.J., Stomski F.C., Dottore M., Powell J., Ramshaw H., Woodcock J.M., Xu Y., Guthridge M., McKinstry W.J., Lopez A.F., Parker M.W.
    Cell 134:496-507(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (3.3 ANGSTROMS) OF 218-320 IN COMPLEX WITH CSF2RB AND CSF2, SUBUNIT, GLYCOSYLATION AT ASN-229.
  15. Cited for: VARIANT SMDP4 ARG-196.

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 historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: September 3, 2014
This is version 157 of the entry and version 1 of the sequence. [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

Miscellaneous

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

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