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HLA-L major histocompatibility complex, class I, L (pseudogene) [ Homo sapiens (human) ]

Gene ID: 3139, updated on 27-Dec-2023

Summary

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Official Symbol
HLA-Lprovided by HGNC
Official Full Name
major histocompatibility complex, class I, L (pseudogene)provided by HGNC
Primary source
HGNC:HGNC:4970
See related
Ensembl:ENSG00000291097 AllianceGenome:HGNC:4970
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
HLAL; HLA92; HLA-92
Expression
Broad expression in brain (RPKM 1.3), lymph node (RPKM 1.1) and 21 other tissues See more
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Genomic context

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Location:
6p22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30259562..30266951)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30123789..30131178)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30227339..30234728)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5749 silencer Neighboring gene PAIP1 pseudogene 1 Neighboring gene tripartite motif containing 26 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:30168993-30169678 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:30169679-30170363 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30175183-30176130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30181514-30182402 Neighboring gene tripartite motif containing 26B, pseudogene Neighboring gene HLA complex group 17 Neighboring gene MPRA-validated peak5750 silencer Neighboring gene HLA complex group 18 Neighboring gene MPRA-validated peak5752 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:30292740-30293383 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:30296621-30297820 Neighboring gene TRIM39-RPP21 readthrough Neighboring gene tripartite motif containing 39 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:30308084-30309283 Neighboring gene ribonuclease P/MRP subunit p21

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. Examination of four HLA class I pseudogenes. Common events in the evolution of HLA genes and pseudogenes. Geraghty DE, et al. J Immunol, 1992 Sep 15. PMID 1517564
  2. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. Barcellos LF, et al. PLoS Genet, 2009 Oct. PMID 19851445, Free PMC Article
  3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Clone Names

  • FLJ45422, MGC164773, MGC167006

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.

RNA

  1. NR_027822.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK127349, AL662782, DA108297
    Related
    ENST00000463348.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    30259562..30266951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    1739329..1746646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    1515431..1522820
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    1569799..1577184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    1514659..1522046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    1558042..1565431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    30123789..30131178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_002771.2: Suppressed sequence

    Description
    NG_002771.2: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
Nucleotide Protein
Heading Accession and Version

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