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    PCNX1 pecanex 1 [ Homo sapiens (human) ]

    Gene ID: 22990, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PCNX1provided by HGNC
    Official Full Name
    pecanex 1provided by HGNC
    Primary source
    HGNC:HGNC:19740
    See related
    Ensembl:ENSG00000100731 MIM:617655; AllianceGenome:HGNC:19740
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PCNX; PCNXL1; pecanex
    Summary
    This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in testis (RPKM 10.7), adrenal (RPKM 10.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCNX1 in Genome Data Viewer
    Location:
    14q24.2
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (70907459..71115382)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (65113121..65320755)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (71374176..71582099)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5892 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:71331248-71332447 Neighboring gene TMEM183A pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5893 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5895 Neighboring gene uncharacterized LOC105370557 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:71542720-71543919 Neighboring gene general transcription factor IIIA pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 3093 Neighboring gene PTTG1 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:71654848-71656047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8670 Neighboring gene uncharacterized LOC105370706 Neighboring gene Sharpr-MPRA regulatory region 2320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8671 Neighboring gene uncharacterized LOC107984654 Neighboring gene Sharpr-MPRA regulatory region 5380 Neighboring gene SIPA1L1 antisense RNA 1

    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. Physical and transcription map in the region 14q24.3: identification of six novel transcripts. Roux AF, et al. Genomics, 1997 Jul 15. PMID 9244429
    2. Pecanex functions as a competitive endogenous RNA of S-phase kinase associated protein 2 in lung cancer. Li J, et al. Cancer Lett, 2017 Oct 10. PMID 28789966
    3. The mammalian gene pecanex 1 is differentially expressed during spermatogenesis. Geisinger A, et al. Biochim Biophys Acta, 2005 Apr 5. PMID 15777640
    4. Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. Frank J, et al. Addict Biol, 2012 Jan. PMID 22004471, Free PMC Article
    5. Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene. Cummings AC, et al. Ann Hum Genet, 2012 Sep. PMID 22881374, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High PCNX expression is associated with lung cancer.
      Title: Pecanex functions as a competitive endogenous RNA of S-phase kinase associated protein 2 in lung cancer.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog
    Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
    EBI GWAS Catalog
    Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23409, FLJ45663, KIAA0805, KIAA0995

    Gene Ontology Provided by GOA

    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 1
    Names
    pecanex homolog 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.

    Genomic

    1. NG_051070.1 RefSeqGene

      Range
      5055..212978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001308160.2 → NP_001295089.1  pecanex-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001295089.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons and uses an alternate in-frame splice site compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AB023212, AC004817, AW976844, BC140784, BE503620, BI518749, BM973139, DB287279
      Consensus CDS
      CCDS76695.1
      UniProtKB/Swiss-Prot
      Q96RV3
      Related
      ENSP00000396617.3, ENST00000439984.7
      Conserved Domains (3) summary
      pfam05041
      Location:1671 → 1896
      Pecanex_C; Pecanex protein (C-terminus)
      pfam12730
      Location:921 → 1168
      ABC2_membrane_4; ABC-2 family transporter protein
      cl11542
      Location:1288 → 1413
      EcsB; Bacterial ABC transporter protein EcsB

    2. NM_014982.3 → NP_055797.2  pecanex-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_055797.2

      Status: REVIEWED

      Description
      Transcript Variant: This transcript represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC004817, AC004825, AC005230, AF233450, AK027062, AW137672
      Consensus CDS
      CCDS9806.1
      UniProtKB/Swiss-Prot
      B2RTR6, O94897, Q96AI7, Q96RV3, Q9Y2J9
      Related
      ENSP00000304192.2, ENST00000304743.7
      Conserved Domains (3) summary
      pfam05041
      Location:1782 → 2007
      Pecanex_C; Pecanex protein (C-terminus)
      pfam12730
      Location:1032 → 1279
      ABC2_membrane_4; ABC-2 family transporter protein
      cl11542
      Location:1399 → 1524
      EcsB; Bacterial ABC transporter protein EcsB

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      70907459..71115382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267420.5 → XP_005267477.1  pecanex-like protein 1 isoform X1

      Conserved Domains (3) summary
      pfam05041
      Location:1790 → 2015
      Pecanex_C; Pecanex protein (C-terminus)
      pfam12730
      Location:1032 → 1279
      ABC2_membrane_4; ABC-2 family transporter protein
      cl11542
      Location:1407 → 1532
      EcsB; Bacterial ABC transporter protein EcsB

    2. XM_005267422.5 → XP_005267479.1  pecanex-like protein 1 isoform X3

      Conserved Domains (3) summary
      pfam05041
      Location:1785 → 2010
      Pecanex_C; Pecanex protein (C-terminus)
      pfam12730
      Location:1027 → 1274
      ABC2_membrane_4; ABC-2 family transporter protein
      cl11542
      Location:1402 → 1527
      EcsB; Bacterial ABC transporter protein EcsB

    3. XM_005267423.5 → XP_005267480.1  pecanex-like protein 1 isoform X5

      Conserved Domains (3) summary
      pfam05041
      Location:1777 → 2002
      Pecanex_C; Pecanex protein (C-terminus)
      pfam12730
      Location:1027 → 1274
      ABC2_membrane_4; ABC-2 family transporter protein
      cl11542
      Location:1394 → 1519
      EcsB; Bacterial ABC transporter protein EcsB

    4. XM_005267421.5 → XP_005267478.1  pecanex-like protein 1 isoform X2

      Conserved Domains (3) summary
      pfam05041
      Location:1789 → 2014
      Pecanex_C; Pecanex protein (C-terminus)
      pfam12730
      Location:1031 → 1278
      ABC2_membrane_4; ABC-2 family transporter protein
      cl11542
      Location:1406 → 1531
      EcsB; Bacterial ABC transporter protein EcsB

    5. XM_047431121.1 → XP_047287077.1  pecanex-like protein 1 isoform X4

    6. XM_047431122.1 → XP_047287078.1  pecanex-like protein 1 isoform X6

    7. XM_005267425.5 → XP_005267482.1  pecanex-like protein 1 isoform X9

      Conserved Domains (3) summary
      pfam05041
      Location:1684 → 1909
      Pecanex_C; Pecanex protein (C-terminus)
      pfam12730
      Location:926 → 1173
      ABC2_membrane_4; ABC-2 family transporter protein
      cl11542
      Location:1301 → 1426
      EcsB; Bacterial ABC transporter protein EcsB

    8. XM_017021096.2 → XP_016876585.1  pecanex-like protein 1 isoform X11

    9. XM_047431124.1 → XP_047287080.1  pecanex-like protein 1 isoform X10

    10. XM_047431130.1 → XP_047287086.1  pecanex-like protein 1 isoform X18

    11. XM_005267427.5 → XP_005267484.1  pecanex-like protein 1 isoform X17

      Conserved Domains (2) summary
      COG1266
      Location:990 → 1226
      YdiL; Membrane protease YdiL, CAAX protease family [Posttranslational modification, protein turnover, chaperones]
      pfam12730
      Location:1032 → 1279
      ABC2_membrane_4; ABC-2 family transporter protein

    12. XM_005267424.4 → XP_005267481.2  pecanex-like protein 1 isoform X7

      Conserved Domains (3) summary
      pfam05041
      Location:1753 → 1978
      Pecanex_C; Pecanex protein (C-terminus)
      pfam12730
      Location:995 → 1242
      ABC2_membrane_4; ABC-2 family transporter protein
      cl11542
      Location:1370 → 1495
      EcsB; Bacterial ABC transporter protein EcsB

    13. XM_047431123.1 → XP_047287079.1  pecanex-like protein 1 isoform X8

    14. XM_047431125.1 → XP_047287081.1  pecanex-like protein 1 isoform X12

    15. XM_047431126.1 → XP_047287082.1  pecanex-like protein 1 isoform X13

    16. XM_047431127.1 → XP_047287083.1  pecanex-like protein 1 isoform X14

    17. XM_047431128.1 → XP_047287084.1  pecanex-like protein 1 isoform X15

    18. XM_047431129.1 → XP_047287085.1  pecanex-like protein 1 isoform X16

    19. XM_047431133.1 → XP_047287089.1  pecanex-like protein 1 isoform X22

    20. XM_006720082.4 → XP_006720145.1  pecanex-like protein 1 isoform X20

      UniProtKB/TrEMBL
      H0YJ91
      Conserved Domains (1) summary
      pfam05041
      Location:864 → 1089
      Pecanex_C; Pecanex protein (C-terminus)

    21. XM_047431131.1 → XP_047287087.1  pecanex-like protein 1 isoform X19

    22. XM_047431134.1 → XP_047287090.1  pecanex-like protein 1 isoform X23

      Related
      ENSP00000451016.1, ENST00000554691.5

    23. XM_047431132.1 → XP_047287088.1  pecanex-like protein 1 isoform X21

    RNA

    1. XR_245673.5 RNA Sequence

    2. XR_007063992.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      65113121..65320755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375623.1 → XP_054231598.1  pecanex-like protein 1 isoform X1

    2. XM_054375625.1 → XP_054231600.1  pecanex-like protein 1 isoform X3

    3. XM_054375627.1 → XP_054231602.1  pecanex-like protein 1 isoform X5

    4. XM_054375624.1 → XP_054231599.1  pecanex-like protein 1 isoform X2

    5. XM_054375626.1 → XP_054231601.1  pecanex-like protein 1 isoform X4

    6. XM_054375628.1 → XP_054231603.1  pecanex-like protein 1 isoform X6

    7. XM_054375631.1 → XP_054231606.1  pecanex-like protein 1 isoform X9

    8. XM_054375633.1 → XP_054231608.1  pecanex-like protein 1 isoform X11

    9. XM_054375632.1 → XP_054231607.1  pecanex-like protein 1 isoform X10

    10. XM_054375640.1 → XP_054231615.1  pecanex-like protein 1 isoform X18

    11. XM_054375639.1 → XP_054231614.1  pecanex-like protein 1 isoform X17

    12. XM_054375629.1 → XP_054231604.1  pecanex-like protein 1 isoform X7

    13. XM_054375630.1 → XP_054231605.1  pecanex-like protein 1 isoform X8

    14. XM_054375634.1 → XP_054231609.1  pecanex-like protein 1 isoform X12

    15. XM_054375635.1 → XP_054231610.1  pecanex-like protein 1 isoform X13

    16. XM_054375636.1 → XP_054231611.1  pecanex-like protein 1 isoform X14

    17. XM_054375637.1 → XP_054231612.1  pecanex-like protein 1 isoform X15

    18. XM_054375638.1 → XP_054231613.1  pecanex-like protein 1 isoform X16

    19. XM_054375644.1 → XP_054231619.1  pecanex-like protein 1 isoform X22

    20. XM_054375642.1 → XP_054231617.1  pecanex-like protein 1 isoform X20

    21. XM_054375641.1 → XP_054231616.1  pecanex-like protein 1 isoform X19

    22. XM_054375645.1 → XP_054231620.1  pecanex-like protein 1 isoform X23

    23. XM_054375643.1 → XP_054231618.1  pecanex-like protein 1 isoform X21

    RNA

    1. XR_008488827.1 RNA Sequence

    2. XR_008488828.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96RV3.2 GenPept UniProtKB/Swiss-Prot:Q96RV3

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