IGLL1

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]

Description

Immunoglobulin lambda like polypeptide 1

Tissue specificity

Group enriched (bone marrow, testis)

Subcell location

Endoplasmic reticulum

Predicted location

Intracellular, Secreted to blood

Protein family

CD markers
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

22 (23573125 - 23580302)

Ensembl ID

ENSG00000128322  (ver. 103.38)

Orthologs

-

UniProt

P15814

neXtProt

NX_P15814

Human splice variants

Protein structure