U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    LOC100500719 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 pseudogene [ Homo sapiens (human) ]

    Gene ID: 100500719, updated on 17-Sep-2024

    Summary

    Go to the top of the page Help
    Gene symbol
    LOC100500719
    Gene description
    HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 pseudogene
    See related
    Ensembl:ENSG00000188078
    Gene type
    pseudo
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See LOC100500719 in Genome Data Viewer
    Location:
    22q12.3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36536609..36537756, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (36996779..36997926, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36932656..36933803, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13670 Neighboring gene FAD dependent oxidoreductase domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18938 Neighboring gene eukaryotic translation initiation factor 3 subunit D Neighboring gene Sharpr-MPRA regulatory region 13009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36959107-36959622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36966399-36966990 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37004893-37005557 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37005558-37006221 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37006222-37006886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37080862-37081403 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:37104667-37104810 Neighboring gene CACNG2 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37121981-37122481 Neighboring gene uncharacterized LOC124905112

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection. Huizing M, et al. Hum Genet, 2000 Mar. PMID 10798370

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

    Go to the top of the page Help

    Other Names

    • Hermansky-Pudlak syndrome 1 pseudogene

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_027540.3 

      Range
      101..1248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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
      36536609..36537756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      36996779..36997926 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials