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Aliases for PCNX1 Gene

Aliases for PCNX1 Gene

  • Pecanex Homolog 1 (Drosophila) 2 3 5
  • PCNXL1 3 4
  • PCNX 3 4
  • Pecanex Homolog (Drosophila) 2
  • Pecanex-Like 1 (Drosophila) 2
  • Pecanex Homolog Protein 1 4
  • Pecanex-Like Protein 1 3
  • KIAA0805 4
  • KIAA0995 4
  • Pecanex 3

External Ids for PCNX1 Gene

Previous HGNC Symbols for PCNX1 Gene

  • PCNXL1
  • PCNX

Summaries for PCNX1 Gene

Entrez Gene Summary for PCNX1 Gene

  • 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]

GeneCards Summary for PCNX1 Gene

PCNX1 (Pecanex Homolog 1 (Drosophila)) is a Protein Coding gene. An important paralog of this gene is PCNX3.

Gene Wiki entry for PCNX1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCNX1 Gene

Genomics for PCNX1 Gene

Regulatory Elements for PCNX1 Gene

Enhancers for PCNX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G070885 1.8 FANTOM5 Ensembl ENCODE dbSUPER 50.7 -19.7 -19714 4.0 PKNOX1 FEZF1 TCF12 ZNF766 GATA2 ELK1 FOS JUNB TBX21 ZNF592 PCNX1 MED6 ENSG00000274818 LOC100287335
GH14G070904 1.6 Ensembl ENCODE dbSUPER 52.7 +1.9 1890 9.5 PKNOX1 FOXA2 ARNT WRNIP1 ARID4B SIN3A FEZF1 YY1 ZNF207 ZNF143 PCNX1 LOC105370557
GH14G070881 1.7 FANTOM5 Ensembl ENCODE dbSUPER 48.7 -24.4 -24405 2.8 PKNOX1 TBL1XR1 CBX5 ZNF366 ELK1 FOS RELB ETV6 IKZF2 CREM PCNX1 MED6 ENSG00000274818 LOC100287335
GH14G071115 1.4 Ensembl ENCODE dbSUPER 43.5 +210.8 210771 4.4 ELF3 FOXA2 THRB RAD21 RARA YY1 SCRT2 CREM HMG20B CEBPB PCNX1 ENSG00000269927 GC14P071114
GH14G071129 1.4 Ensembl ENCODE dbSUPER 43 +223.7 223697 2.9 PKNOX1 ATF1 TCF12 ELK1 GATA2 FOS JUNB NCOA1 TBX21 MEF2D PCNX1 ENSG00000269927 GC14P071114
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCNX1 on UCSC Golden Path with GeneCards custom track

Promoters for PCNX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000070364 695 2601 WRNIP1 ARID4B SIN3A ZNF48 YY1 GLIS2 ZNF143 ZNF207 ZNF263 MXD4

Genomic Location for PCNX1 Gene

Chromosome:
14
Start:
70,907,405 bp from pter
End:
71,115,382 bp from pter
Size:
207,978 bases
Orientation:
Plus strand

Genomic View for PCNX1 Gene

Genes around PCNX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCNX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCNX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCNX1 Gene

Proteins for PCNX1 Gene

  • Protein details for PCNX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RV3-PCX1_HUMAN
    Recommended name:
    Pecanex-like protein 1
    Protein Accession:
    Q96RV3
    Secondary Accessions:
    • B2RTR6
    • O94897
    • Q96AI7
    • Q9Y2J9

    Protein attributes for PCNX1 Gene

    Size:
    2341 amino acids
    Molecular mass:
    258676 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76839.1; Type=Frameshift; Positions=41; Evidence={ECO:0000305};

    Alternative splice isoforms for PCNX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCNX1 Gene

Post-translational modifications for PCNX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PCNX1 Gene

Domains & Families for PCNX1 Gene

Protein Domains for PCNX1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PCNX1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96RV3

UniProtKB/Swiss-Prot:

PCX1_HUMAN :
  • Belongs to the pecanex family.
Family:
  • Belongs to the pecanex family.
genes like me logo Genes that share domains with PCNX1: view

No data available for Gene Families for PCNX1 Gene

Function for PCNX1 Gene

Phenotypes for PCNX1 Gene

GenomeRNAi human phenotypes for PCNX1:
genes like me logo Genes that share phenotypes with PCNX1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCNX1 Gene

Localization for PCNX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCNX1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCNX1 gene
Compartment Confidence
plasma membrane 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PCNX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCNX1: view

Pathways & Interactions for PCNX1 Gene

SuperPathways for PCNX1 Gene

No Data Available

Interacting Proteins for PCNX1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000304192%0d%0a9606.ENSP00000356234%0d%0a9606.ENSP00000376436%0d%0a
Selected Interacting proteins: Q96RV3-PCX1_HUMAN ENSP00000304192 for PCNX1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for PCNX1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PCNX1 Gene

Drugs & Compounds for PCNX1 Gene

No Compound Related Data Available

Transcripts for PCNX1 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCNX1 Gene

No ASD Table

Relevant External Links for PCNX1 Gene

GeneLoc Exon Structure for
PCNX1
ECgene alternative splicing isoforms for
PCNX1

Expression for PCNX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCNX1 Gene:

PCNX1

Evidence on tissue expression from TISSUES for PCNX1 Gene

  • Nervous system(4.7)
  • Intestine(4.2)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCNX1 Gene

Orthologs for PCNX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCNX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCNX 34 35
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia PCNX 34 35
  • 92.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PCNX 34 35
  • 90.16 (n)
oppossum
(Monodelphis domestica)
Mammalia PCNX 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcnx 34
  • 86.27 (n)
mouse
(Mus musculus)
Mammalia Pcnx 34 16 35
  • 85.8 (n)
chicken
(Gallus gallus)
Aves PCNX 34 35
  • 81.11 (n)
lizard
(Anolis carolinensis)
Reptilia PCNX 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100135121 34
  • 76.11 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7316 34
zebrafish
(Danio rerio)
Actinopterygii pcnx 34 35
  • 66.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta pcx 35
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0511.12 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13499 34
Species where no ortholog for PCNX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCNX1 Gene

ENSEMBL:
Gene Tree for PCNX1 (if available)
TreeFam:
Gene Tree for PCNX1 (if available)

Paralogs for PCNX1 Gene

Paralogs for PCNX1 Gene

genes like me logo Genes that share paralogs with PCNX1: view

Variants for PCNX1 Gene

Sequence variations from dbSNP and Humsavar for PCNX1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs193920949 Uncertain significance 71,019,061(+) TCGTG(G/T)CCTTT nc-transcript-variant, reference, missense
rs1000009196 -- 70,965,612(+) GAGCT(A/G)AGATG intron-variant, upstream-variant-2KB
rs1000011274 -- 70,943,657(+) CATAA(C/G)TAACG intron-variant, upstream-variant-2KB
rs1000014897 -- 71,090,170(+) TAGGA(C/T)AGACT intron-variant
rs1000016893 -- 70,913,201(+) TCATA(C/T)TAGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCNX1 Gene

Variant ID Type Subtype PubMed ID
esv1004840 CNV deletion 20482838
esv1181559 CNV deletion 17803354
esv2229536 CNV deletion 18987734
esv2392889 CNV deletion 18987734
esv2496217 CNV deletion 19546169
esv2590666 CNV deletion 19546169
esv2660325 CNV deletion 23128226
esv2675445 CNV deletion 23128226
esv2748851 CNV deletion 23290073
esv2748853 CNV deletion 23290073
esv2748854 CNV deletion 23290073
esv2748855 CNV deletion 23290073
esv3325758 CNV insertion 20981092
esv3551732 CNV deletion 23714750
esv3551734 CNV deletion 23714750
esv3551736 CNV deletion 23714750
esv3581282 CNV loss 25503493
esv3634871 CNV loss 21293372
esv7102 CNV loss 19470904
nsv1036929 CNV gain 25217958
nsv1038007 CNV gain 25217958
nsv1044090 CNV gain 25217958
nsv1053303 CNV gain 25217958
nsv1134387 CNV deletion 24896259
nsv1153692 CNV duplication 26484159
nsv1340 CNV insertion 18451855
nsv471996 CNV novel sequence insertion 20440878
nsv565043 CNV gain 21841781
nsv826973 CNV loss 20364138
nsv85150 CNV deletion 16902084
nsv957514 CNV deletion 24416366

Variation tolerance for PCNX1 Gene

Residual Variation Intolerance Score: 0.482% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.91; 59.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCNX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCNX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCNX1 Gene

Disorders for PCNX1 Gene

Relevant External Links for PCNX1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCNX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCNX1

No disorders were found for PCNX1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCNX1 Gene

Publications for PCNX1 Gene

  1. The mammalian gene pecanex 1 is differentially expressed during spermatogenesis. (PMID: 15777640) Geisinger A. … Wettstein R. (Biochim. Biophys. Acta 2005) 2 3 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 3 4 64
  4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 3 4 64

Products for PCNX1 Gene

Sources for PCNX1 Gene

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