RBCC Red Blood Cell Collection

IL3RB_HUMAN

Source: BD_CD
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: CSF2RB , IL3RB, IL5RB
Protein names and data: IL3RB_HUMAN , Cytokine receptor common subunit beta , CDw131; GM-CSF/IL-3/IL-5 receptor common beta subunit; CD131; Flags: Precursor Lenght: 897 a.a.
Mass: 97336 Da
fasta formatted sequence
Function: High affinity receptor for interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor.
Disease: ( OMIM: 138981 614370 ) Pulmonary surfactant metabolism dysfunction 5 (SMDP5) [MIM:614370]: 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.
Cellular location: Membrane; Single-pass type I membrane protein.

Genetic variants

249 - 249 E -> Q (in dbSNP:rs16845). VAR_042521 16845
603 - 603 P -> T (in dbSNP:rs1801122). VAR_014801 1801122
647 - 647 G -> V (in dbSNP:rs1801115). VAR_014802 1801115
652 - 652 V -> M (in dbSNP:rs1801114). VAR_014803 1801114
696 - 696 P -> S (in dbSNP:rs16997517). VAR_042522 16997517

Database cross-references

UniProt: P32927
Ensembl: ENST00000262825
Ensembl: ENST00000403662
Ensembl: ENST00000406230
MIM: 138981
MIM: 614370
neXtProt: NX_P32927
Antibodypedia: P32927 (may not find the protein thus also not any antibody)
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