Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 3543, updated on 8-Oct-2017
    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]
    Orthologs
    Location:
    22q11.23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 prostate cancer associated transcript 14 (non-protein coding) Neighboring gene uncharacterized LOC105372957 Neighboring gene aspartate rich 1 Neighboring gene glucuronidase, beta pseudogene 11 Neighboring gene argininosuccinate lyase pseudogene 1

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • 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 ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 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

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      23927473..23934655 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center