RBCC Red Blood Cell Collection

IGBP1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: IGBP1 , IBP1
Protein names and data: IGBP1_HUMAN , Immunoglobulin-binding protein 1 , B-cell signal transduction molecule alpha 4; Protein alpha-4; CD79a-binding protein 1; Protein phosphatase 2/4/6 regulatory subunit; Renal carcinoma antigen NY-REN-16 Lenght: 339 a.a.
Mass: 39222 Da
fasta formatted sequence
Function: Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits.
Disease: ( OMIM: 300139 300472 ) Mental retardation, X-linked, syndromic, 28 (MRXS28) [MIM:300472]: A mental retardation syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm (Potential).
Tissue specificity: Ubiquitously expressed with highest levels in heart, skeletal muscle and pancreas.

Genetic variants

20 - 20 R -> K (in dbSNP:rs6625580). VAR_049570 6625580

Database cross-references

UniProt: P78318
Ensembl: ENST00000342206
Ensembl: ENST00000356413
MIM: 300139
MIM: 300472
neXtProt: NX_P78318
Antibodypedia: P78318 (may not find the protein thus also not any antibody)
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