IGLL1
entrez
3543
canonical
uniprot
P15814
canonical
ensembl
ENSG00000128322
resolver
ensp
ENSP00000249053
resolver
ensp
ENSP00000329312
resolver
ensp
ENSP00000403391
resolver
genesymbol
IGLL1
resolver
genesymbol_syn
IGL1
resolver
hgnc
HGNC:5870
resolver
uniprot
Q0P681
resolver
uniprot_entry
IGLL1_HUMAN
resolver
uniprot_sec
Q0P681
resolver
amino_acid_sequence
MRPGTGQGGLEAPGEPGPNLRQRWPLLLLGLAVVTHGLLRPTAASQSRALGPGAPGGSSRSSLRSRWGRFLLQRGSWTGPRCWPRGFQSKHNSVTHVFGSGTQLTVLSQPKATPSVTLFPPSSEELQANKATLVCLMNDFYPGILTVTWKADGTPITQGVEMTTPSKQSNNKYAASSYLSLTPEQWRSRRSYSCQVMHEGSTVEKTVAPAECS
uniprot
proteins
disease_involvement
DISEASE: Agammaglobulinemia 2, autosomal recessive (AGM2) [MIM:613500]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269|PubMed:9419212}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Critical for B-cell development. {ECO:0000269|PubMed:9419212}.
uniprot
proteins
mass_dalton
22963
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1703205
uniprot
proteins
pubmed
17431183
uniprot
proteins
pubmed
2128466
uniprot
proteins
pubmed
2501791
uniprot
proteins
pubmed
3003227
uniprot
proteins
pubmed
9419212
uniprot
proteins
sequence_length
213
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250|UniProtKB:P20764}. Secreted {ECO:0000269|PubMed:9419212}. Note=In pre-B cells, localizes predominantly to the endoplasmic reticulum. {ECO:0000250|UniProtKB:P20764}.
uniprot
proteins