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Aliases for PITHD1 Gene

Aliases for PITHD1 Gene

  • PITH Domain Containing 1 2 3 5
  • PITH (C-Terminal Proteasome-Interacting Domain Of Thioredoxin-Like) Domain Containing 1 2 3
  • TXNL1 C-Terminal Like 2 3
  • C1orf128 3 4
  • Chromosome 1 Open Reading Frame 128 2
  • PITH Domain-Containing Protein 1 3
  • TXNL1CL 3
  • HT014 3

External Ids for PITHD1 Gene

Previous HGNC Symbols for PITHD1 Gene

  • C1orf128

Previous GeneCards Identifiers for PITHD1 Gene

  • GC01P024105
  • GC01P024108

Summaries for PITHD1 Gene

GeneCards Summary for PITHD1 Gene

PITHD1 (PITH Domain Containing 1) is a Protein Coding gene.

Additional gene information for PITHD1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PITHD1 Gene

Genomics for PITHD1 Gene

Regulatory Elements for PITHD1 Gene

Enhancers for PITHD1 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
GH01H023809 1.5 Ensembl ENCODE dbSUPER 11.7 +32.0 31977 2 HDGF PKNOX1 ATF1 ARNT ARID4B ZNF2 YY1 GTF3C2 ZNF766 GATA2 FUCA1 ELOA SRSF10 KDM1A PITHD1 ELOA-AS1 SRRM1 RPL11 LINC01355 PIR41142
GH01H023895 1.3 Ensembl ENCODE dbSUPER 10.9 +118.2 118176 3 BCOR MAX CEBPG YY1 ZNF316 POLR2A EED ETV6 RUNX3 CREM FUCA1 ELOA-AS1 PITHD1 SRSF10 BTBD6P1 GC01M023881
GH01H023899 0.9 ENCODE dbSUPER 10.9 +120.9 120850 0 ZNF687 CBFB TAL1 BHLHE40 BATF ZNF766 BCL11A POLR2A RUNX3 CREM FUCA1 ELOA-AS1 PITHD1 SRSF10 BTBD6P1 GC01M023881
GH01H023776 1.4 ENCODE dbSUPER 6.3 +0.4 363 3 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 ZNF766 SRSF10 SRRM1 KDM1A HNRNPR ELOA FUCA1 LINC01355 PITHD1 LYPLA2
GH01H023751 0.7 ENCODE 12.4 -26.9 -26911 0 ELF3 HDGF CTCF ARID4B ZNF2 RAD21 CC2D1A SCRT2 SMC3 ZNF143 ELOA-AS1 PITHD1 LYPLA2 GC01P023754 ELOA
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PITHD1 on UCSC Golden Path with GeneCards custom track

Promoters for PITHD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000003089 14 1601 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 FOS

Genomic Location for PITHD1 Gene

Chromosome:
1
Start:
23,778,386 bp from pter
End:
23,788,232 bp from pter
Size:
9,847 bases
Orientation:
Plus strand

Genomic View for PITHD1 Gene

Genes around PITHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PITHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PITHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PITHD1 Gene

Proteins for PITHD1 Gene

  • Protein details for PITHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZP4-PITH1_HUMAN
    Recommended name:
    PITH domain-containing protein 1
    Protein Accession:
    Q9GZP4
    Secondary Accessions:
    • B2R7J4
    • Q5QPN6
    • Q5QPN7
    • Q9NRI8

    Protein attributes for PITHD1 Gene

    Size:
    211 amino acids
    Molecular mass:
    24178 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI23142.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PITHD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PITHD1 Gene

Post-translational modifications for PITHD1 Gene

Other Protein References for PITHD1 Gene

No data available for DME Specific Peptides for PITHD1 Gene

Domains & Families for PITHD1 Gene

Gene Families for PITHD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PITHD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PITHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9GZP4

UniProtKB/Swiss-Prot:

PITH1_HUMAN :
  • Belongs to the PITHD1 family.
Family:
  • Belongs to the PITHD1 family.
genes like me logo Genes that share domains with PITHD1: view

Function for PITHD1 Gene

Phenotypes From GWAS Catalog for PITHD1 Gene

genes like me logo Genes that share phenotypes with PITHD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PITHD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 PITHD1 Gene

Localization for PITHD1 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 PITHD1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PITHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
genes like me logo Genes that share ontologies with PITHD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for PITHD1 Gene

Pathways & Interactions for PITHD1 Gene

SuperPathways for PITHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PITHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IBA --
genes like me logo Genes that share ontologies with PITHD1: view

No data available for Pathways by source and SIGNOR curated interactions for PITHD1 Gene

Drugs & Compounds for PITHD1 Gene

No Compound Related Data Available

Transcripts for PITHD1 Gene

Unigene Clusters for PITHD1 Gene

PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PITHD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PITHD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c
SP1: -
SP2: - - -
SP3:
SP4: - -
SP5: - - - -
SP6:

Relevant External Links for PITHD1 Gene

GeneLoc Exon Structure for
PITHD1
ECgene alternative splicing isoforms for
PITHD1

Expression for PITHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PITHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PITHD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PITHD1 Gene



Protein tissue co-expression partners for PITHD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PITHD1 Gene:

PITHD1

SOURCE GeneReport for Unigene cluster for PITHD1 Gene:

Hs.31819

Evidence on tissue expression from TISSUES for PITHD1 Gene

  • Nervous system(4.8)
  • Adrenal gland(4.3)
  • Liver(4.3)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with PITHD1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PITHD1 Gene

Orthologs for PITHD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PITHD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PITHD1 34 33
  • 99.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MGC159500 34
  • 99 (a)
OneToOne
PITHD1 33
  • 95.73 (n)
dog
(Canis familiaris)
Mammalia PITHD1 34 33
  • 96.52 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PITHD1 34
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pithd1 33
  • 92.73 (n)
mouse
(Mus musculus)
Mammalia Pithd1 16 34 33
  • 91.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PITHD1 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PITHD1 33 34
  • 72.08 (n)
lizard
(Anolis carolinensis)
Reptilia PITHD1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pithd1 33
  • 69.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30364 33
zebrafish
(Danio rerio)
Actinopterygii pithd1 33
  • 69.9 (n)
PITHD1 34
  • 59 (a)
OneToOne
Dr.13623 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10155 33
fruit fly
(Drosophila melanogaster)
Insecta CG6153 33 34
  • 60.99 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010236 33
  • 60.53 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK353.9 34 33
  • 54.66 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G25950 33
  • 49.03 (n)
rice
(Oryza sativa)
Liliopsida Os01g0559000 33
  • 52.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBP35G2.02 33
  • 46.99 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06751 33
  • 45.16 (n)
Species where no ortholog for PITHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PITHD1 Gene

ENSEMBL:
Gene Tree for PITHD1 (if available)
TreeFam:
Gene Tree for PITHD1 (if available)

Paralogs for PITHD1 Gene

No data available for Paralogs for PITHD1 Gene

Variants for PITHD1 Gene

Sequence variations from dbSNP and Humsavar for PITHD1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000108231 -- 23,781,807(+) AGTGC(A/C)TACAT intron-variant
rs1000337744 -- 23,781,235(+) AGGCG(A/G)GCGGA intron-variant
rs1000405384 -- 23,786,906(+) CATTT(A/G)TATTA intron-variant
rs1000498460 -- 23,788,340(+) GTAGA(-/T)TATAG downstream-variant-500B
rs1000565832 -- 23,786,979(+) GAACC(A/G)GGGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PITHD1 Gene

Variant ID Type Subtype PubMed ID
esv2671952 CNV deletion 23128226
esv3585492 CNV loss 21293372
nsv1137742 CNV deletion 24896259
nsv1149837 CNV insertion 26484159

Variation tolerance for PITHD1 Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 3.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PITHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PITHD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PITHD1 Gene

Disorders for PITHD1 Gene

Relevant External Links for PITHD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PITHD1

No disorders were found for PITHD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PITHD1 Gene

Publications for PITHD1 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 60
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 60

Products for PITHD1 Gene

Sources for PITHD1 Gene

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