Aliases for PXDC1 Gene

Aliases for PXDC1 Gene

  • PX Domain Containing 1 2 3 5
  • PX Domain-Containing Protein 1 3 4
  • C6orf145 3 4
  • PX Domain-Containing Protein C6orf145 3
  • Chromosome 6 Open Reading Frame 145 2

External Ids for PXDC1 Gene

Previous HGNC Symbols for PXDC1 Gene

  • C6orf145

Summaries for PXDC1 Gene

GeneCards Summary for PXDC1 Gene

PXDC1 (PX Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol binding.

Additional gene information for PXDC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PXDC1 Gene

Genomics for PXDC1 Gene

GeneHancer (GH) Regulatory Elements for PXDC1 Gene

Promoters and enhancers for PXDC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J003742 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 756.6 +3.9 3862 12.3 SP1 ZBTB40 CTCF LCORL FOXA1 RBPJ NR2F1 NR2F6 MIXL1 MYC PXDC1 ENSG00000238158 ENSG00000237716 ENSG00000228365 FAM136BP LINC02533 PSMC1P11 ENSG00000219992 ENSG00000260604 TUBB2BP1
GH06J002979 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +765.9 765906 13.6 FOXK2 ZBTB40 SP1 CTCF SREBF1 SIX5 ZBTB6 FOXA1 RBPJ SMARCE1 NQO2 LINC01011 RF00017-5204 RIPK1 PSMG4 WRNIP1 ENSG00000228170 ENSG00000272320 ENSG00000224846 SERPINB9
GH06J003156 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +591.1 591073 13.9 ZBTB40 CTCF ZBTB6 SMARCE1 RBPJ POLR2A CREB1 RUNX1 NFYC ELF1 TUBB2A TUBB2B PSMG4 TUBB2BP1 PRPF4B WRNIP1 PXDC1 ENSG00000272320 RIPK1 BPHL
GH06J003052 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +698.1 698125 1.8 GTF3C2 ZBTB40 RBPJ SMARCE1 NR2F6 RUNX1 CC2D1A L3MBTL2 SREBF1 POLR2A ENSG00000229282 piR-31432-559 lnc-RIPK1-4 lnc-SERPINB6-2 PRPF4B RIPK1 ENSG00000272277 PSMG4 WRNIP1 TUBB2B
GH06J003021 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +727.5 727467 6.3 SIN3A SP1 ZBTB40 SMARCE1 POLR2A NR2F1 NR2F6 MYC NFYC ETV6 HTATSF1P2 LOC101927759 lnc-RIPK1-11 lnc-SERPINB6-1 NQO2 RIPK1 PRPF4B PXDC1 LINC01011 ENSG00000270504
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PXDC1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PXDC1 Gene

Genomic Locations for PXDC1 Gene
chr6:3,722,602-3,752,026
(GRCh38/hg38)
Size:
29,425 bases
Orientation:
Minus strand
chr6:3,722,836-3,752,260
(GRCh37/hg19)
Size:
29,425 bases
Orientation:
Minus strand

Genomic View for PXDC1 Gene

Genes around PXDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PXDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PXDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PXDC1 Gene

Proteins for PXDC1 Gene

  • Protein details for PXDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TGL8-PXDC1_HUMAN
    Recommended name:
    PX domain-containing protein 1
    Protein Accession:
    Q5TGL8
    Secondary Accessions:
    • A8K0N3
    • Q6PGP0
    • Q86XB7

    Protein attributes for PXDC1 Gene

    Size:
    231 amino acids
    Molecular mass:
    26560 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PXDC1 Gene

Post-translational modifications for PXDC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PXDC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PXDC1 Gene

Domains & Families for PXDC1 Gene

Gene Families for PXDC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PXDC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PXDC1 Gene

GenScript: Design optimal peptide antigens:
  • PX domain-containing protein C6orf145 (CF145_HUMAN)
genes like me logo Genes that share domains with PXDC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PXDC1 Gene

Function for PXDC1 Gene

Phenotypes From GWAS Catalog for PXDC1 Gene

Gene Ontology (GO) - Molecular Function for PXDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035091 phosphatidylinositol binding IEA --
genes like me logo Genes that share ontologies with PXDC1: view
genes like me logo Genes that share phenotypes with PXDC1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PXDC1 Gene

Localization for PXDC1 Gene

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 PXDC1 gene
Compartment Confidence
mitochondrion 2
nucleus 1
cytosol 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PXDC1 Gene

Pathways & Interactions for PXDC1 Gene

PathCards logo

SuperPathways for PXDC1 Gene

No Data Available

Interacting Proteins for PXDC1 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000369636 Q5TGL8-PXDC1_HUMAN for PXDC1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for PXDC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PXDC1 Gene

Drugs & Compounds for PXDC1 Gene

No Compound Related Data Available

Transcripts for PXDC1 Gene

mRNA/cDNA for PXDC1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PXDC1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7
SP1: - - - -
SP2:
SP3:

Relevant External Links for PXDC1 Gene

GeneLoc Exon Structure for
PXDC1
ECgene alternative splicing isoforms for
PXDC1

Expression for PXDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PXDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PXDC1 Gene

This gene is overexpressed in Artery - Aorta (x5.7) and Liver (x5.2).

Protein differential expression in normal tissues from HIPED for PXDC1 Gene

This gene is overexpressed in Bone (58.2) and Placenta (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PXDC1 Gene



Protein tissue co-expression partners for PXDC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PXDC1 Gene:

PXDC1

SOURCE GeneReport for Unigene cluster for PXDC1 Gene:

Hs.484500

Evidence on tissue expression from TISSUES for PXDC1 Gene

  • Lymph node(4.2)
  • Skin(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with PXDC1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PXDC1 Gene

Orthologs for PXDC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PXDC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PXDC1 33 32
  • 98.85 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PXDC1 33
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PXDC1 33 32
  • 88.33 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pxdc1 32
  • 88.02 (n)
mouse
(Mus musculus)
Mammalia Pxdc1 17 33 32
  • 87.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PXDC1 33
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PXDC1 33 32
  • 86.72 (n)
OneToOne
chicken
(Gallus gallus)
Aves PXDC1 33
  • 84 (a)
OneToOne
C2H6ORF145 32
  • 81.53 (n)
lizard
(Anolis carolinensis)
Reptilia PXDC1 33
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pxdc1 32
  • 73.3 (n)
zebrafish
(Danio rerio)
Actinopterygii pxdc1b 33 32
  • 66.67 (n)
OneToMany
pxdc1a 33
  • 38 (a)
OneToMany
Species where no ortholog for PXDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PXDC1 Gene

ENSEMBL:
Gene Tree for PXDC1 (if available)
TreeFam:
Gene Tree for PXDC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PXDC1: view image

Paralogs for PXDC1 Gene

No data available for Paralogs for PXDC1 Gene

Variants for PXDC1 Gene

Sequence variations from dbSNP and Humsavar for PXDC1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs368727869 A breast cancer sample 3,723,708(-) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000004263 -- 3,728,773(-) T/C intron_variant
rs1000092839 -- 3,741,386(-) C/G intron_variant
rs1000140862 -- 3,726,168(-) C/A intron_variant
rs1000148426 -- 3,730,319(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PXDC1 Gene

Variant ID Type Subtype PubMed ID
esv33970 CNV gain 17666407
nsv1144132 CNV deletion 24896259
nsv5178 CNV insertion 18451855

Variation tolerance for PXDC1 Gene

Residual Variation Intolerance Score: 52.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PXDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PXDC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PXDC1 Gene

Disorders for PXDC1 Gene

Additional Disease Information for PXDC1

No disorders were found for PXDC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PXDC1 Gene

Publications for PXDC1 Gene

  1. Parent of origin gene expression in a founder population identifies two new candidate imprinted genes at known imprinted regions. (PMID: 30204804) Mozaffari SV … Ober C (PloS one 2018) 3 56
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 56
  4. Interaction proteome of human Hippo signaling: modular control of the co-activator YAP1. (PMID: 24366813) Hauri S … Gstaiger M (Molecular systems biology 2013) 3 56
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K … Gorospe M (The EMBO journal 2009) 3 56

Products for PXDC1 Gene

Sources for PXDC1 Gene