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    POM121L9P POM121 transmembrane nucleoporin like 9, pseudogene [ Homo sapiens (human) ]

    Gene ID: 29774, updated on 17-Sep-2024

    Summary

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    Official Symbol
    POM121L9Pprovided by HGNC
    Official Full Name
    POM121 transmembrane nucleoporin like 9, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:30080
    See related
    Ensembl:ENSG00000290696 AllianceGenome:HGNC:30080
    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
    UNQ2565; DKFZP434P211
    Summary
    This locus is inferred to be a transcribed pseudogene based on the observation that protein homology is limited to the first of seven exons (indicated by alignment of AL117401.1 to the assembled human genome). This pattern suggests rapid turnover by the nonsense-mediated decay pathway. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 40.8) and gall bladder (RPKM 1.3) See more
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    Genomic context

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    See POM121L9P in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24251621..24265524)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24713232..24727135)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24647589..24661492)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24639831-24640386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24640387-24640942 Neighboring gene gamma-glutamyltransferase 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24642055-24642610 Neighboring gene Sharpr-MPRA regulatory region 1554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24647549-24648049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24651904-24652808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24655631-24656248 Neighboring gene SPECC1L-ADORA2A readthrough (NMD candidate) Neighboring gene gamma-glutamyltransferase light chain 4 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24660235-24660965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18768 Neighboring gene BCR pseudogene 1 Neighboring gene ribosomal protein S10 pseudogene 29 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:24680125-24680630 Neighboring gene sperm antigen with calponin homology and coiled-coil domains 1 like Neighboring gene Sharpr-MPRA regulatory region 3008 Neighboring gene Sharpr-MPRA regulatory region 3699 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:24712259-24712996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24734941-24735636 Neighboring gene uncharacterized LOC105372960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18769

    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. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Navarini AA, et al. Nat Commun, 2014 Jun 13. PMID 24927181
    2. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
    3. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
    4. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article
    5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Other Names

    • POM121 membrane glycoprotein-like 1 pseudogene
    • POM121 membrane glycoprotein-like 9, pseudogene
    • POM121-like protein

    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_003714.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL040062, AL045566, AL117401, AL117484, AP000354, AY358961, BX107726, DB072014
      Related
      ENST00000414583.6

    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
      24251621..24265524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      24713232..24727135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014549.1: Suppressed sequence

      Description
      NM_014549.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
    Nucleotide Protein
    Heading Accession and Version

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

    Chemical Information
    Molecular Biology Databases
    Research Materials