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    PCNX3 pecanex 3 [ Homo sapiens (human) ]

    Gene ID: 399909, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PCNX3provided by HGNC
    Official Full Name
    pecanex 3provided by HGNC
    Primary source
    HGNC:HGNC:18760
    See related
    Ensembl:ENSG00000197136 MIM:617657; AllianceGenome:HGNC:18760
    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
    PCNXL3
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 9.4), spleen (RPKM 6.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCNX3 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65615776..65637439)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65608472..65631609)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65383247..65404910)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene potassium two pore domain channel subfamily K member 7 Neighboring gene mitogen-activated protein kinase kinase kinase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65380127-65381014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65381903-65382789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65404393-65405183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4997 Neighboring gene microRNA 4690 Neighboring gene signal-induced proliferation-associated 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65421552-65422052 Neighboring gene microRNA 4489 Neighboring gene RELA proto-oncogene, NF-kB subunit Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5000 Neighboring gene RELA divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. ENTREP/FAM189A2 encodes a new ITCH ubiquitin ligase activator that is downregulated in breast cancer. Tsunoda T, et al. EMBO Rep, 2022 Feb 3. PMID 34927784, Free PMC Article
    2. Novel interactors and a role for supervillin in early cytokinesis. Smith TC, et al. Cytoskeleton (Hoboken), 2010 Jun. PMID 20309963, Free PMC Article
    3. A Hypoxia-Induced SCFFBXL1 E3 Ligase Ubiquitinates and Degrades the MEN1 Tumor Suppressor to Promote Colorectal Cancer Tumorigenesis. Zeng J, et al. Cancer Res Treat, 2022 Apr. PMID 34237211, Free PMC Article
    4. Engagement of the G3BP2-TRIM25 Interaction by Nucleocapsid Protein Suppresses the Type I Interferon Response in SARS-CoV-2-Infected Cells. Yang Z, et al. Vaccines (Basel), 2022 Nov 29. PMID 36560452, Free PMC Article
    5. Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer. Mavaddat N, et al. Cancer Epidemiol Biomarkers Prev, 2009 Jan. PMID 19124506, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog

    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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    Homology

    Clone Names

    • FLJ22427

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pecanex-like protein 3
    Names
    pecanex homolog 3
    pecanex homolog protein 3
    pecanex-like 3

    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_032223.4 → NP_115599.2  pecanex-like protein 3

      See identical proteins and their annotated locations for NP_115599.2

      Status: VALIDATED

      Source sequence(s)
      AP001362, KF455405
      Consensus CDS
      CCDS44650.1
      UniProtKB/Swiss-Prot
      Q6MZN8, Q9H6A9
      Related
      ENSP00000347931.3, ENST00000355703.4
      Conserved Domains (1) summary
      pfam05041
      Location:1570 → 1795
      Pecanex_C; Pecanex protein (C-terminus)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      65615776..65637439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545024.3 → XP_011543326.1  pecanex-like protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011543326.1

      Conserved Domains (1) summary
      pfam05041
      Location:1583 → 1808
      Pecanex_C; Pecanex protein (C-terminus)

    2. XM_006718549.5 → XP_006718612.1  pecanex-like protein 3 isoform X3

      Conserved Domains (1) summary
      pfam05041
      Location:1577 → 1802
      Pecanex_C; Pecanex protein (C-terminus)

    3. XM_005273987.6 → XP_005274044.1  pecanex-like protein 3 isoform X2

      Conserved Domains (2) summary
      pfam05041
      Location:1582 → 1807
      Pecanex_C; Pecanex protein (C-terminus)
      cl21589
      Location:419 → 626
      Relaxase; Relaxase/Mobilization nuclease domain

    4. XM_047426937.1 → XP_047282893.1  pecanex-like protein 3 isoform X4

    5. XM_047426938.1 → XP_047282894.1  pecanex-like protein 3 isoform X5

    6. XM_011545025.4 → XP_011543327.1  pecanex-like protein 3 isoform X6

      Conserved Domains (2) summary
      pfam05041
      Location:1583 → 1808
      Pecanex_C; Pecanex protein (C-terminus)
      cl21589
      Location:419 → 622
      Relaxase; Relaxase/Mobilization nuclease domain

    7. XM_047426939.1 → XP_047282895.1  pecanex-like protein 3 isoform X7

    8. XM_011545028.4 → XP_011543330.1  pecanex-like protein 3 isoform X8

      Conserved Domains (2) summary
      PHA03247
      Location:194 → 629
      PHA03247; large tegument protein UL36; Provisional
      COG1289
      Location:850 → 1043
      YccC; Uncharacterized membrane protein YccC [Function unknown]

    9. XM_005273990.6 → XP_005274047.1  pecanex-like protein 3 isoform X9

      Conserved Domains (2) summary
      PHA03247
      Location:194 → 629
      PHA03247; large tegument protein UL36; Provisional
      COG1289
      Location:850 → 1043
      YccC; Uncharacterized membrane protein YccC [Function unknown]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      65608472..65631609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368754.1 → XP_054224729.1  pecanex-like protein 3 isoform X1

    2. XM_054368756.1 → XP_054224731.1  pecanex-like protein 3 isoform X3

    3. XM_054368755.1 → XP_054224730.1  pecanex-like protein 3 isoform X2

    4. XM_054368757.1 → XP_054224732.1  pecanex-like protein 3 isoform X4

    5. XM_054368758.1 → XP_054224733.1  pecanex-like protein 3 isoform X5

    6. XM_054368759.1 → XP_054224734.1  pecanex-like protein 3 isoform X6

    7. XM_054368760.1 → XP_054224735.1  pecanex-like protein 3 isoform X7

    8. XM_054368761.1 → XP_054224736.1  pecanex-like protein 3 isoform X8

    9. XM_054368762.1 → XP_054224737.1  pecanex-like protein 3 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6A9.2 GenPept UniProtKB/Swiss-Prot:Q9H6A9

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