Aliases for PTAR1 Gene

Aliases for PTAR1 Gene

  • Protein Prenyltransferase Alpha Subunit Repeat Containing 1 2 3 5
  • Protein Prenyltransferase Alpha Subunit Repeat-Containing Protein 1 3 4

External Ids for PTAR1 Gene

Previous GeneCards Identifiers for PTAR1 Gene

  • GC09M067791
  • GC09M069562
  • GC09M071514
  • GC09M072324
  • GC09M042163

Summaries for PTAR1 Gene

GeneCards Summary for PTAR1 Gene

PTAR1 (Protein Prenyltransferase Alpha Subunit Repeat Containing 1) is a Protein Coding gene. Diseases associated with PTAR1 include Walker-Warburg Syndrome. Gene Ontology (GO) annotations related to this gene include protein prenyltransferase activity. An important paralog of this gene is RABGGTA.

Additional gene information for PTAR1 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 PTAR1 Gene

Genomics for PTAR1 Gene

GeneHancer (GH) Regulatory Elements for PTAR1 Gene

Promoters and enhancers for PTAR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTAR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTAR1

Top Transcription factor binding sites by QIAGEN in the PTAR1 gene promoter:
  • E47
  • Evi-1
  • GATA-3
  • Gfi-1
  • Hlf
  • HTF
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT5A
  • Tal-1

Genomic Locations for PTAR1 Gene

Genomic Locations for PTAR1 Gene
chr9:69,709,522-69,760,044
(GRCh38/hg38)
Size:
50,523 bases
Orientation:
Minus strand
chr9:72,324,438-72,374,876
(GRCh37/hg19)
Size:
50,439 bases
Orientation:
Minus strand

Genomic View for PTAR1 Gene

Genes around PTAR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTAR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTAR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTAR1 Gene

Proteins for PTAR1 Gene

  • Protein details for PTAR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z6K3-PTAR1_HUMAN
    Recommended name:
    Protein prenyltransferase alpha subunit repeat-containing protein 1
    Protein Accession:
    Q7Z6K3
    Secondary Accessions:
    • Q5T7V5
    • Q5T7V6

    Protein attributes for PTAR1 Gene

    Size:
    402 amino acids
    Molecular mass:
    46405 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH53622.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PTAR1 Gene

neXtProt entry for PTAR1 Gene

Post-translational modifications for PTAR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PTAR1 Gene

Domains & Families for PTAR1 Gene

Gene Families for PTAR1 Gene

Protein Domains for PTAR1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PTAR1 Gene

GenScript: Design optimal peptide antigens:
  • Protein prenyltransferase alpha subunit repeat-containing protein 1 (PTAR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z6K3

UniProtKB/Swiss-Prot:

PTAR1_HUMAN :
  • Belongs to the protein prenyltransferase subunit alpha family.
Family:
  • Belongs to the protein prenyltransferase subunit alpha family.
genes like me logo Genes that share domains with PTAR1: view

Function for PTAR1 Gene

Phenotypes From GWAS Catalog for PTAR1 Gene

Gene Ontology (GO) - Molecular Function for PTAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008318 protein prenyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PTAR1: view
genes like me logo Genes that share phenotypes with PTAR1: view

Animal Model Products

CRISPR Products

miRNA for PTAR1 Gene

miRTarBase miRNAs that target PTAR1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PTAR1 Gene

Localization for PTAR1 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 PTAR1 gene
Compartment Confidence
cytoskeleton 3
plasma membrane 1
cytosol 1
golgi apparatus 1
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Rods & Rings (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PTAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with PTAR1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PTAR1 Gene

Pathways & Interactions for PTAR1 Gene

PathCards logo

SuperPathways for PTAR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PTAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018342 protein prenylation IEA --
genes like me logo Genes that share ontologies with PTAR1: view

No data available for Pathways by source and SIGNOR curated interactions for PTAR1 Gene

Drugs & Compounds for PTAR1 Gene

No Compound Related Data Available

Transcripts for PTAR1 Gene

mRNA/cDNA for PTAR1 Gene

7 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTAR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8
SP1: - -
SP2: - - - - -
SP3: -
SP4:

Relevant External Links for PTAR1 Gene

GeneLoc Exon Structure for
PTAR1

Expression for PTAR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PTAR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTAR1 Gene

This gene is overexpressed in Adrenal (43.7), Monocytes (12.6), and Plasma (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTAR1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTAR1

SOURCE GeneReport for Unigene cluster for PTAR1 Gene:

Hs.744192

Evidence on tissue expression from TISSUES for PTAR1 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with PTAR1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTAR1 Gene

Orthologs for PTAR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTAR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTAR1 31 30
  • 99.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PTAR1 31 30
  • 92.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PTAR1 31 30
  • 92.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ptar1 17 31 30
  • 88.08 (n)
rat
(Rattus norvegicus)
Mammalia Ptar1 30
  • 86.68 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 83 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PTAR1 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTAR1 31 30
  • 77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTAR1 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptar1 30
  • 69.61 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7367 30
zebrafish
(Danio rerio)
Actinopterygii ptar1 31 30
  • 64.79 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0144 31
  • 28 (a)
OneToOne
Species where no ortholog for PTAR1 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 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 PTAR1 Gene

ENSEMBL:
Gene Tree for PTAR1 (if available)
TreeFam:
Gene Tree for PTAR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTAR1: view image

Paralogs for PTAR1 Gene

Paralogs for PTAR1 Gene

genes like me logo Genes that share paralogs with PTAR1: view

Variants for PTAR1 Gene

Additional dbSNP identifiers (rs#s) for PTAR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PTAR1 Gene

Variant ID Type Subtype PubMed ID
esv3437996 CNV insertion 20981092
esv3620566 CNV gain 21293372
nsv471309 CNV gain 18288195
nsv831611 CNV gain 17160897

Variation tolerance for PTAR1 Gene

Residual Variation Intolerance Score: 65.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.91; 48.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTAR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTAR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTAR1 Gene

Disorders for PTAR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PTAR1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
walker-warburg syndrome
  • hydrocephalus, agyria, and retinal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search PTAR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PTAR1

genes like me logo Genes that share disorders with PTAR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTAR1 Gene

Publications for PTAR1 Gene

  1. GGTase3 is a newly identified geranylgeranyltransferase targeting a ubiquitin ligase. (PMID: 31209342) Kuchay S … Pagano M (Nature structural & molecular biology 2019) 2 3 54
  2. Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability. (PMID: 30194290) Adhikari H … Counter CM (Nature communications 2018) 3 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  5. Gene essentiality and synthetic lethality in haploid human cells. (PMID: 26472760) Blomen VA … Brummelkamp TR (Science (New York, N.Y.) 2015) 3 54

Products for PTAR1 Gene

Sources for PTAR1 Gene