Human Gene IGLL1 (ENST00000249053.3) from GENCODE V44
Description: Homo sapiens immunoglobulin lambda like polypeptide 1 (IGLL1), transcript variant 2, mRNA. (from RefSeq NM_152855) RefSeq Summary (NM_152855): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000249053.3 Gencode Gene: ENSG00000128322.7 Transcript (Including UTRs) Position: hg38 chr22:23,573,125-23,580,239 Size: 7,115 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr22:23,573,537-23,580,190 Size: 6,654 Coding Exon Count: 2
ID:IGLL1_HUMAN DESCRIPTION: RecName: Full=Immunoglobulin lambda-like polypeptide 1; AltName: Full=CD179 antigen-like family member B; AltName: Full=Ig lambda-5; AltName: Full=Immunoglobulin omega polypeptide; AltName: Full=Immunoglobulin-related protein 14.1; AltName: CD_antigen=CD179b; Flags: Precursor; FUNCTION: Critical for B-cell development. SUBUNIT: Associates non-covalently with VPREB1. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Expressed only in pre-B-cells and a special B- cell line (which is surface Ig negative). DISEASE: Defects in IGLL1 are the cause of agammaglobulinemia type 2 (AGM2) [MIM:613500]. 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. SIMILARITY: Contains 1 Ig-like C1-type (immunoglobulin-like) domain. WEB RESOURCE: Name=IGLL1base; Note=IGLL1 mutation db; URL="http://bioinf.uta.fi/IGLL1base/"; WEB RESOURCE: Name=Wikipedia; Note=IGLL1; URL="http://en.wikipedia.org/wiki/IGLL1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P15814
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Gene Ontology (GO) Annotations with Structured Vocabulary
US Server
