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    KIR3DX1 killer cell immunoglobulin like receptor, three Ig domains X1 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 90011, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KIR3DX1provided by HGNC
    Official Full Name
    killer cell immunoglobulin like receptor, three Ig domains X1 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:25043
    See related
    Ensembl:ENSG00000290933 AllianceGenome:HGNC:25043
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LENG12; KIR3DL0
    Summary
    Predicted to be involved in immune response-regulating signaling pathway. Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See KIR3DX1 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54532692..54545768)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57626038..57639114)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55043909..55057050)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55018677-55019177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55020667-55021482 Neighboring gene leukocyte associated immunoglobulin like receptor 2 Neighboring gene uncharacterized LOC105372460 Neighboring gene MPRA-validated peak3555 silencer Neighboring gene uncharacterized LOC105372461 Neighboring gene uncharacterized LOC107985347 Neighboring gene leukocyte immunoglobulin like receptor A2

    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
    • 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. Identification of the ancestral killer immunoglobulin-like receptor gene in primates. Sambrook JG, et al. BMC Genomics, 2006 Aug 15. PMID 16911775, Free PMC Article
    2. Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution. Dehal P, et al. Science, 2001 Jul 6. PMID 11441184
    3. Expanding the substantial interactome of NEMO using protein microarrays. Fenner BJ, et al. PLoS One, 2010 Jan 20. PMID 20098747, Free PMC Article
    4. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496
    5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. Bennett EJ, et al. Cell, 2010 Dec 10. PMID 21145461, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    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

    Other Names

    • immunoglobulin-like receptor KIR3DL0
    • killer cell immunoglobulin-like receptor, three domains, X1
    • leukocyte receptor cluster (LRC) member 12

    Clone Names

    • FLJ00060

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immune response-regulating signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    NCBI Reference Sequences (RefSeq)

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    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.

    RNA

    1. NR_026716.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK024467, BC033195, BC171827, DQ224421
      Related
      ENST00000610811.4

    2. NR_104095.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK024467, BC033195, BC171827

    3. NR_104096.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK024467, BC033195, BC171827, BC171832

    4. NR_104097.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK024467, BC033195, BC171838

    5. NR_136268.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents an alternate allele located on the reference alternate locus, ALT_REF_LOCI_7.
      Source sequence(s)
      AC009892, AC104536

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54532692..54545768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      438900..451967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      437417..450484
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      515023..528164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57626038..57639114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001047605.1: Suppressed sequence

      Description
      NM_001047605.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    2. NM_033206.1: Suppressed sequence

      Description
      NM_033206.1: This RefSeq was suppressed because the protein and transcript are insufficiently supported by other data and the transcript is a nonsense-mediated decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H7L2.2 GenPept UniProtKB/Swiss-Prot:Q9H7L2

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials