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    PYDC1 pyrin domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 260434, updated on 5-Mar-2024

    Summary

    Official Symbol
    PYDC1provided by HGNC
    Official Full Name
    pyrin domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:30261
    See related
    Ensembl:ENSG00000169900 MIM:615700; AllianceGenome:HGNC:30261
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASC2; POP1; PYC1; cPOP1
    Summary
    Predicted to enable cysteine-type endopeptidase activity. Involved in several processes, including negative regulation of tumor necrosis factor-mediated signaling pathway; regulation of gene expression; and tumor necrosis factor-mediated signaling pathway. Located in cytosol and nucleus. Part of IkappaB kinase complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in skin (RPKM 1.7), brain (RPKM 0.2) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    Location:
    16p11.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31215962..31217135, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31603392..31604565, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31227283..31228456, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31190697-31191457 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31191458-31192219 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31192220-31192980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31193602-31194102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31212912-31213542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7416 Neighboring gene FUS RNA binding protein Neighboring gene PYCARD antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31224931-31225846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31225847-31226761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31227677-31228591 Neighboring gene PYD and CARD domain containing Neighboring gene tripartite motif containing 72 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31255701-31256205 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31256206-31256709 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:31257215-31257717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10759 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:31276375-31277574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31282603-31283128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31283129-31283654 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:31284654-31285853 Neighboring gene integrin subunit alpha M Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:31295357-31296556 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:31336636-31336863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10763 Neighboring gene integrin subunit alpha X pseudogene Neighboring gene integrin subunit alpha X

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    General protein information

    Preferred Names
    pyrin domain-containing protein 1
    Names
    PAAD-only protein 1
    PYD (pyrin domain) containing 1
    cellular POP1
    pyrin-only protein 1

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_152901.4NP_690865.1  pyrin domain-containing protein 1

      See identical proteins and their annotated locations for NP_690865.1

      Status: VALIDATED

      Source sequence(s)
      AC009088, AF086332
      Consensus CDS
      CCDS10710.1
      UniProtKB/Swiss-Prot
      B2R8L4, Q8NFP8, Q8WXC3
      Related
      ENSP00000304336.4, ENST00000302964.4
      Conserved Domains (1) summary
      cd08321
      Location:587
      Pyrin_ASC-like; Pyrin Death Domain found in ASC

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      31215962..31217135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31603392..31604565 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)