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    PXDC1 PX domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 221749, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PXDC1provided by HGNC
    Official Full Name
    PX domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:21361
    See related
    Ensembl:ENSG00000168994 AllianceGenome:HGNC:21361
    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
    C6orf145
    Summary
    Predicted to enable phosphatidylinositol binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 40.1), placenta (RPKM 24.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PXDC1 in Genome Data Viewer
    Location:
    6p25.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3722619..3751713, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3591565..3620651, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3722853..3751947, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 22 member 23 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16854 Neighboring gene Sharpr-MPRA regulatory region 3383 Neighboring gene uncharacterized LOC643327 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3490051-3490550 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:3511328-3512180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3540364-3540864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3563205-3563704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3568820-3569322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3579367-3580278 Neighboring gene uncharacterized LOC100507336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3603461-3603960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3724209-3724747 Neighboring gene Sharpr-MPRA regulatory region 15708 Neighboring gene TOMM5 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3737712-3738338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16857 Neighboring gene NANOG hESC enhancer GRCh37_chr6:3756018-3756884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3757047-3758012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3761087-3761600 Neighboring gene Sharpr-MPRA regulatory region 8997 Neighboring gene uncharacterized LOC124901244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3810000-3810500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3810501-3811001 Neighboring gene uncharacterized LOC107986557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16858 Neighboring gene family with sequence similarity 50 member B

    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. Parent of origin gene expression in a founder population identifies two new candidate imprinted genes at known imprinted regions. Mozaffari SV, et al. PLoS One, 2018. PMID 30204804, Free PMC Article
    2. Interaction proteome of human Hippo signaling: modular control of the co-activator YAP1. Hauri S, et al. Mol Syst Biol, 2013. PMID 24366813, Free PMC Article
    3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    4. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article
    5. Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases. Buljan M, et al. Mol Cell, 2020 Aug 6. PMID 32707033, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    PX domain-containing protein 1
    Names
    PX domain-containing protein C6orf145

    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_183373.4 → NP_899229.2  PX domain-containing protein 1

      See identical proteins and their annotated locations for NP_899229.2

      Status: VALIDATED

      Source sequence(s)
      AK024828, AK289598, BC056908, DA164068
      Consensus CDS
      CCDS4486.1
      UniProtKB/Swiss-Prot
      A8K0N3, Q5TGL8, Q6PGP0, Q86XB7
      Related
      ENSP00000369636.5, ENST00000380283.5
      Conserved Domains (1) summary
      cl02563
      Location:46 → 127
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      3722619..3751713 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514393.4 → XP_011512695.1  PX domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      H0Y3G1
      Conserved Domains (1) summary
      cl02563
      Location:35 → 67
      PX_domain; The Phox Homology domain, a phosphoinositide binding module

    2. XM_047418376.1 → XP_047274332.1  PX domain-containing protein 1 isoform X1

      Related
      ENSP00000369630.2, ENST00000380277.6

    RNA

    1. XR_007059222.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      3591565..3620651 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354641.1 → XP_054210616.1  PX domain-containing protein 1 isoform X1

    2. XM_054354640.1 → XP_054210615.1  PX domain-containing protein 1 isoform X1

    RNA

    1. XR_008487280.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TGL8.3 GenPept UniProtKB/Swiss-Prot:Q5TGL8

    Gene LinkOut

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

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