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

Gene ID: 260434, updated on 17-Jun-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
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Genomic context

See PYDC1 in Genome Data Viewer
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine/threonine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine/threonine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of IkappaB kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

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)

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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.

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)