| UniProt Protein Function: | IGLL1: Critical for B-cell development. Defects in IGLL1 are the cause of agammaglobulinemia type 2 (AGM2). It is 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. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Secreted, signal peptide; Secreted Chromosomal Location of Human Ortholog: 22q11.23 Cellular Component: external side of plasma membrane; membrane Molecular Function: antigen binding Biological Process: B cell receptor signaling pathway; complement activation, classical pathway; defense response to bacterium; immune response; innate immune response; phagocytosis, engulfment; phagocytosis, recognition; positive regulation of B cell activation Disease: Agammaglobulinemia 2, Autosomal Recessive |
| UniProt Protein Details: | |
| NCBI Summary: | The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P15814 |
| NCBI GenInfo Identifier: | 123944 |
| NCBI Gene ID: | 3543 |
| NCBI Accession: | P15814.1 |
| UniProt Secondary Accession: | P15814,Q0P681 |
| UniProt Related Accession: | P15814 |
| Molecular Weight: | 8,574 Da |
| NCBI Full Name: | Immunoglobulin lambda-like polypeptide 1 |
| NCBI Synonym Full Names: | immunoglobulin lambda like polypeptide 1 |
| NCBI Official Symbol: | IGLL1 |
| NCBI Official Synonym Symbols: | IGO; 14.1; AGM2; IGL1; IGL5; IGLL; IGVPB; CD179b; VPREB2; IGLJ14.1 |
| NCBI Protein Information: | immunoglobulin lambda-like polypeptide 1 |
| UniProt Protein Name: | Immunoglobulin lambda-like polypeptide 1 |
| UniProt Synonym Protein Names: | CD179 antigen-like family member B; Ig lambda-5; Immunoglobulin omega polypeptide; Immunoglobulin-related protein 14.1; CD_antigen: CD179b |
| Protein Family: | Ig lambda chain C region |
| UniProt Gene Name: | IGLL1 |
| UniProt Entry Name: | IGLL1_HUMAN |
