IGBP1
entrez
3476
canonical
uniprot
P78318
canonical
ensembl
ENSG00000089289
resolver
ensp
ENSP00000348784
resolver
ensp
ENSP00000363661
resolver
ensp
ENSP00000607225
resolver
ensp
ENSP00000607226
resolver
ensp
ENSP00000613446
resolver
ensp
ENSP00000613447
resolver
enst
ENST00000342206
resolver
enst
ENST00000356413
resolver
enst
ENST00000937166
resolver
enst
ENST00000937167
resolver
enst
ENST00000943387
resolver
genesymbol
IGBP1
resolver
genesymbol_syn
IBP1
resolver
hgnc
HGNC:5461
resolver
uniprot
Q8TAB2
resolver
uniprot_entry
IGBP1_HUMAN
resolver
uniprot_sec
Q8TAB2
resolver
amino_acid_sequence
MAAEDELQLPRLPELFETGRQLLDEVEVATEPAGSRIVQEKVFKGLDLLEKAAEMLSQLDLFSRNEDLEEIASTDLKYLLVPAFQGALTMKQVNPSKRLDHLQRAREHFINYLTQCHCYHVAEFELPKTMNNSAENHTANSSMAYPSLVAMASQRQAKIQRYKQKKELEHRLSAMKSAVESGQADDERVREYYLLHLQRWIDISLEEIESIDQEIKILRERDSSREASTSNSSRQERPPVKPFILTRNMAQAKVFGAGYPSLPTMTVSDWYEQHRKYGALPDQGIAKAAPEEFRKAAQQQEEQEEKEEEDDEQTLHRAREWDDWKDTHPRGYGNRQNMG
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked, syndromic 28 (MRXS28) [MIM:300472]: An intellectual disability syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Intellectual disability is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:14556245}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:19818709, ECO:0000269|PubMed:23591866}.
uniprot
proteins
mass_dalton
39222
uniprot
proteins
mutagenesis
MUTAGEN 155; /note="R->E: Abolishes interaction with PPP2CA."; /evidence="ECO:0000269|PubMed:23591866"; MUTAGEN 158; /note="K->D: Abolishes interaction with PPP2CA."; /evidence="ECO:0000269|PubMed:23591866"; MUTAGEN 162; /note="Y->D: Abolishes interaction with PPP2CA."; /evidence="ECO:0000269|PubMed:23591866"; MUTAGEN 214; /note="E->R: Abolishes interaction with PPP2CA."; /evidence="ECO:0000269|PubMed:23591866
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000250}.; PTM: Monoubiquitination by MID1 triggers calpain-mediated cleavage and switches IGBP1 activity from protective to destructive. {ECO:0000269|PubMed:22613722}.
uniprot
proteins
protein_family
IGBP1/TAP42 family
uniprot
proteins
pubmed
10508479
uniprot
proteins
pubmed
11806752
uniprot
proteins
pubmed
14556245
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19818709
uniprot
proteins
pubmed
20092282
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22613722
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23591866
uniprot
proteins
pubmed
9441740
uniprot
proteins
pubmed
9647778
uniprot
proteins
sequence_length
339
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
uniprot
proteins