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IGLL1 immunoglobulin lambda like polypeptide 1 [ Homo sapiens (human) ]

Gene ID: 3543, updated on 5-Aug-2018

Summary

Official Symbol
IGLL1provided by HGNC
Official Full Name
immunoglobulin lambda like polypeptide 1provided by HGNC
Primary source
HGNC:HGNC:5870
See related
Ensembl:ENSG00000128322 MIM:146770; Vega:OTTHUMG00000150673
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IGO; 14.1; AGM2; IGL1; IGL5; IGLL; IGVPB; CD179b; VPREB2; IGLJ14.1
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]
Expression
Biased expression in bone marrow (RPKM 17.7) and testis (RPKM 4.8) See more
Orthologs

Genomic context

See IGLL1 in Genome Data Viewer
Location:
22q11.23
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (23573125..23580548, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (23915312..23922619, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory regions 962 and 2236 Neighboring gene prostate cancer associated transcript 14 Neighboring gene uncharacterized LOC105372957 Neighboring gene aspartate rich 1 Neighboring gene glucuronidase, beta pseudogene 11 Neighboring gene argininosuccinate lyase pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Agammaglobulinemia 2, autosomal recessive
MedGen: C3150750 OMIM: 613500 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association for migraine in six population-based European cohorts.
NHGRI GWA Catalog
The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
    Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Primary immunodeficiency, organism-specific biosystem (from KEGG)
    Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Primary immunodeficiency, conserved biosystem (from KEGG)
    Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
antigen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
immunoglobulin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
B cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
complement activation, classical pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
immune response NAS
Non-traceable Author Statement
more info
PubMed 
innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leukocyte migration TAS
Traceable Author Statement
more info
 
phagocytosis, engulfment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phagocytosis, recognition IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of B cell activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
immunoglobulin complex, circulating IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
immunoglobulin lambda-like polypeptide 1
Names
CD179 antigen-like family member B
CD179b antigen
Pre-B lymphocyte-specific protein-2
ig lambda-5
immunoglobulin omega polypeptide chain
immunoglobulin-related 14.1 protein
immunoglobulin-related protein 14.1
lambda5

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009791.1 RefSeqGene

    Range
    5001..12184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_69

mRNA and Protein(s)

  1. NM_020070.3NP_064455.1  immunoglobulin lambda-like polypeptide 1 isoform a precursor

    See identical proteins and their annotated locations for NP_064455.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC030239, M27749
    Consensus CDS
    CCDS13809.1
    UniProtKB/Swiss-Prot
    P15814
    Related
    ENSP00000329312.2, OTTHUMP00000198227, ENST00000330377.2, OTTHUMT00000319569
    Conserved Domains (1) summary
    cd07699
    Location:114206
    IgC_L; Immunoglobulin Constant domain
  2. NM_152855.2NP_690594.1  immunoglobulin lambda-like polypeptide 1 isoform b precursor

    See identical proteins and their annotated locations for NP_690594.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, which causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    BC030239, M27749
    Consensus CDS
    CCDS13810.1
    UniProtKB/Swiss-Prot
    P15814
    Related
    ENSP00000249053.3, OTTHUMP00000198226, ENST00000249053.3, OTTHUMT00000319568

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    23573125..23580548 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530169.2XP_011528471.1  immunoglobulin lambda-like polypeptide 1 isoform X1

    Related
    ENSP00000403391.1, OTTHUMP00000198228, ENST00000438703.1, OTTHUMT00000319570
    Conserved Domains (1) summary
    cd07699
    Location:115207
    IgC_L; Immunoglobulin Constant domain
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