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PCNX1 pecanex 1 [ Homo sapiens (human) ]

Gene ID: 22990, updated on 2-Nov-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
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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 Variation Viewer (GRCh37.p13)

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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