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

    Gene ID: 3543, updated on 8-Jul-2021

    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
    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
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    Genomic context

    See IGLL1 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (23573125..23580290, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (23915312..23922477, 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 GUSB 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 Apr 4 07:08:55 2018

    Bibliography

    Phenotypes

    Associated conditions

    Description Tests
    Agammaglobulinemia 2, autosomal recessive
    MedGen: C3150750 OMIM: 613500 GeneReviews: Not available
    Compare labs
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    GeneReviews: Not available
    Meta-analysis of genome-wide association for migraine in six population-based European cohorts.
    GeneReviews: Not available
    The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables antigen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables immunoglobulin receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in B cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in complement activation, classical pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phagocytosis, engulfment IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phagocytosis, recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of B cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    part_of immunoglobulin complex, circulating IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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_001369906.1NP_001356835.1  immunoglobulin lambda-like polypeptide 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AP000345
      Related
      ENSP00000403391.1, ENST00000438703.1
      Conserved Domains (1) summary
      cd07699
      Location:115210
      IgC_L; Immunoglobulin Constant domain
    2. NM_020070.4NP_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, ENST00000330377.3
      Conserved Domains (1) summary
      cd07699
      Location:114206
      IgC_L; Immunoglobulin Constant domain
    3. NM_152855.3NP_690594.1  immunoglobulin lambda-like polypeptide 1 isoform b precursor

      See identical proteins and their annotated locations for NP_690594.1

      Status: REVIEWED

      Source sequence(s)
      AP000345
      Consensus CDS
      CCDS13810.1
      UniProtKB/Swiss-Prot
      P15814
      Related
      ENSP00000249053.3, ENST00000249053.3

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      23573125..23580290 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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