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    IGLL5 immunoglobulin lambda like polypeptide 5 [ Homo sapiens (human) ]

    Gene ID: 100423062, updated on 3-Nov-2024

    Summary

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    Official Symbol
    IGLL5provided by HGNC
    Official Full Name
    immunoglobulin lambda like polypeptide 5provided by HGNC
    Primary source
    HGNC:HGNC:38476
    See related
    Ensembl:ENSG00000254709 AllianceGenome:HGNC:38476
    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
    IGL; IGLV; VL-MAR
    Summary
    This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
    Orthologs
    all
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    Genomic context

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    See IGLL5 in Genome Data Viewer
    Location:
    22q11.22
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (22887816..22896111)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (23310731..23319020)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (23229996..23238291)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda locus Neighboring gene uncharacterized LOC105372948 Neighboring gene uncharacterized LOC102724638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18729 Neighboring gene immunoglobulin lambda variable 3-1 Neighboring gene microRNA 5571 Neighboring gene immunoglobulin lambda joining 1 Neighboring gene immunoglobulin lambda constant 1 Neighboring gene immunoglobulin lambda joining 2 Neighboring gene immunoglobulin lambda constant 2

    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. Epitope-specific human influenza antibody repertoires diversify by B cell intraclonal sequence divergence and interclonal convergence. Krause JC, et al. J Immunol, 2011 Oct 1. PMID 21880983, Free PMC Article
    2. Utility of Doppler myocardial imaging, cardiac biomarkers, and clonal immunoglobulin genes to assess left ventricular performance and stratify risk following peripheral blood stem cell transplantation in patients with systemic light chain amyloidosis (Al). Bellavia D, et al. J Am Soc Echocardiogr, 2011 Apr. PMID 21315556, Free PMC Article
    3. IGLL5 is correlated with tumor-infiltrating immune cells in clear cell renal cell carcinoma. Xia ZN, et al. FEBS Open Bio, 2021 Mar. PMID 33449444, Free PMC Article
    4. Expression of a novel type of immunoglobulin C lambda transcripts in human mature B lymphocytes producing kappa light chains. Guglielmi P, et al. Eur J Immunol, 1991 Feb. PMID 1900243
    5. Soft tissue, joint, and bone manifestations of AL amyloidosis: clinical presentation, molecular features, and survival. Prokaeva T, et al. Arthritis Rheum, 2007 Nov. PMID 17968927

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IGLL5 is correlated with tumor-infiltrating immune cells in clear cell renal cell carcinoma.
      Title: IGLL5 is correlated with tumor-infiltrating immune cells in clear cell renal cell carcinoma.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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
    		  
    Process Evidence Code Pubs
    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 extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    immunoglobulin lambda-like polypeptide 5
    Names
    G lambda-1
    anti HBs antibody light-chain Fab fragment
    anti-SARS-CoV-2 immunoglobulin light chain
    germline immunoglobulin lambda 1
    immunoglobin anti-granzymeB light chain variable region
    immunoglobulin lambda 1 light chain
    immunoglobulin lambda 2 light chain
    immunoglobulin lambda 3 light chain
    immunoglobulin lambda chain
    immunoglobulin lambda light chain variable region
    immunoglobulin lambda-3 surrogate light chain
    immunoglobulin light chain variable region EM1-PPS-4-L1-1
    omega light chain protein 14.1

    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_000002.1 

      Range
      853944..861998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178126.2 → NP_001171597.1  immunoglobulin lambda-like polypeptide 5 isoform 1

      See identical proteins and their annotated locations for NP_001171597.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA847784, AC245028, AJ318022, BG756003
      Consensus CDS
      CCDS54506.1
      UniProtKB/Swiss-Prot
      B9A064
      UniProtKB/TrEMBL
      A0A0B4J231
      Related
      ENSP00000431254.1, ENST00000526893.6
      Conserved Domains (1) summary
      cd07699
      Location:115 → 207
      IgC_L; Immunoglobulin Constant domain

    2. NM_001256296.2 → NP_001243225.1  immunoglobulin lambda-like polypeptide 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the central coding region, and uses an alternate downstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA847784, AC245028, AJ318022, AJ319669, AJ319670
      UniProtKB/TrEMBL
      Q6PJR7
      Conserved Domains (1) summary
      cd07699
      Location:40 → 132
      IgC_L; Immunoglobulin Constant domain

    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
      22887816..22896111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      23310731..23319020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B9A064.2 GenPept UniProtKB/Swiss-Prot:B9A064

    Gene LinkOut

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

    Chemical Information
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