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

    Gene ID: 3543, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:5870
    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
    mouse all
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    Genomic context

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    See IGLL1 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23573125..23580290, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24020344..24027509, complement)
    RS_2024_09 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 endogenous retrovirus group K member 5 Gag polyprotein-like Neighboring gene Sharpr-MPRA regulatory region 4313 Neighboring gene Sharpr-MPRA regulatory regions 962 and 2236 Neighboring gene prostate cancer associated transcript 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23891199-23891699 Neighboring gene Sharpr-MPRA regulatory region 8041 Neighboring gene uncharacterized LOC105372957 Neighboring gene aspartate rich 1 Neighboring gene uncharacterized LOC124905089 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:23975547-23975684

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. The immunoglobulin lambda-like gene cluster (14.1, 16.1 and F lambda 1) contains gene(s) selectively expressed in pre-B cells and is the human counterpart of the mouse lambda 5 gene. Schiff C, et al. Int Immunol, 1990. PMID 2128466
    2. Immunoglobulin lambda light-chain-related genes 14.1 and 16.1 are expressed in pre-B cells and may encode the human immunoglobulin omega light-chain protein. Hollis GF, et al. Proc Natl Acad Sci U S A, 1989 Jul. PMID 2501791, Free PMC Article
    3. Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation. Gemayel KT, et al. Ann Allergy Asthma Immunol, 2016 Oct. PMID 27576013
    4. Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. Minegishi Y, et al. J Exp Med, 1998 Jan 5. PMID 9419212, Free PMC Article
    5. Transgenic human lambda 5 rescues the murine lambda 5 nullizygous phenotype. Donohoe ME, et al. J Immunol, 2000 May 15. PMID 10799888

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. in autosomal recessive agammaglobulinemia a homozygous missense mutation at codon 142 (CCG>with CTG) resulting in a Pro>Leu substitution was identified in exon 3 of the IGLL1 gene; 2 additional silent homozygous substitutions were identified at codons 131 (T>C) and 140 (T>C); sequencing also revealed 2 homozygous single-nucleotide polymorphisms in the noncoding region of exon 3
      Title: Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation.
    2. Irrespective of subtype, Acute Lymphoblastic Leukemia with high levels of IGHM, IGLL1 and VPREB1 are arrested at the pre-B stage and correlate with good prognosis in high-risk pediatric B-cell precursor acute lymphoblastic leukemia.
      Title: The Expression Pattern of the Pre-B Cell Receptor Components Correlates with Cellular Stage and Clinical Outcome in Acute Lymphoblastic Leukemia.
    3. Hhydrophobic residues from the lambda5-UR is crucial for the interaction with GAL1 and for pre-BCR clustering.
      Title: Structural basis for galectin-1-dependent pre-B cell receptor (pre-BCR) activation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables antigen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in immune response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in immunoglobulin mediated immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of IgG immunoglobulin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    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)

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

      Status: REVIEWED

      Source sequence(s)
      AP000345
      UniProtKB/TrEMBL
      C9JEE0
      Related
      ENSP00000403391.1, ENST00000438703.1
      Conserved Domains (1) summary
      cd07699
      Location:115 → 210
      IgC_L; Immunoglobulin Constant domain

    2. NM_020070.4 → NP_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, Q0P681
      UniProtKB/TrEMBL
      C9JEE0
      Related
      ENSP00000329312.2, ENST00000330377.3
      Conserved Domains (1) summary
      cd07699
      Location:114 → 206
      IgC_L; Immunoglobulin Constant domain

    3. NM_152855.3 → NP_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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      24020344..24027509 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15814.1 GenPept UniProtKB/Swiss-Prot:P15814

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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