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
  • PITH Domain-Containing Protein 1 3 4
  • TXNL1 C-Terminal Like 2 3
  • C1orf128 3 4
  • Chromosome 1 Open Reading Frame 128 2
  • 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PITHD1 Gene

Genomics for PITHD1 Gene

GeneHancer (GH) Regulatory Elements for PITHD1 Gene

Promoters and enhancers for PITHD1 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 PITHD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PITHD1 Gene

Genomic Locations for PITHD1 Gene
9,847 bases
Plus strand
9,847 bases
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:
    Recommended name:
    PITH domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B2R7J4
    • Q5QPN6
    • Q5QPN7
    • Q9NRI8

    Protein attributes for PITHD1 Gene

    211 amino acids
    Molecular mass:
    24178 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PITHD1 Gene


neXtProt entry for PITHD1 Gene

Post-translational modifications for PITHD1 Gene

  • Glycosylation at Thr204 and Thr207
  • Ubiquitination at Lys142
  • Modification sites at PhosphoSitePlus

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

Suggested Antigen Peptide Sequences for PITHD1 Gene

GenScript: Design optimal peptide antigens:
  • PITH domain-containing protein 1 (PITH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PITHD1 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITHD1

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

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 2
cytosol 2

Gene Ontology (GO) - Cellular Components for PITHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
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

PathCards logo

SuperPathways for PITHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PITHD1 Gene


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

mRNA/cDNA for PITHD1 Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(287) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITHD1

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: - - -
SP4: - -
SP5: - - - -

Relevant External Links for PITHD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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, 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:


SOURCE GeneReport for Unigene cluster for PITHD1 Gene:


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

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
(Pan troglodytes)
Mammalia PITHD1 33 32
  • 99.05 (n)
(Bos Taurus)
Mammalia MGC159500 33
  • 99 (a)
  • 95.73 (n)
(Canis familiaris)
Mammalia PITHD1 33 32
  • 96.52 (n)
(Monodelphis domestica)
Mammalia PITHD1 33
  • 96 (a)
(Rattus norvegicus)
Mammalia Pithd1 32
  • 92.73 (n)
(Mus musculus)
Mammalia Pithd1 17 33 32
  • 91.47 (n)
(Ornithorhynchus anatinus)
Mammalia PITHD1 33
  • 69 (a)
(Gallus gallus)
Aves PITHD1 33 32
  • 72.08 (n)
(Anolis carolinensis)
Reptilia PITHD1 33
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pithd1 32
  • 69.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30364 32
(Danio rerio)
Actinopterygii pithd1 32
  • 69.9 (n)
  • 59 (a)
Dr.13623 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10155 32
fruit fly
(Drosophila melanogaster)
Insecta CG6153 33 32
  • 60.99 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010236 32
  • 60.53 (n)
(Caenorhabditis elegans)
Secernentea ZK353.9 33 32
  • 54.66 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G25950 32
  • 49.03 (n)
(Oryza sativa)
Liliopsida Os01g0559000 32
  • 52.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 51 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBP35G2.02 32
  • 46.99 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06751 32
  • 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

Gene Tree for PITHD1 (if available)
Gene Tree for PITHD1 (if available)
Evolutionary constrained regions (ECRs) for PITHD1: view image

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 Variation AA Info Type
rs1000108231 -- 23,781,807(+) A/C intron_variant
rs1000337744 -- 23,781,235(+) G/A intron_variant
rs1000405384 -- 23,786,906(+) A/G intron_variant
rs1000498460 -- 23,788,340(+) TT/T downstream_transcript_variant
rs1000565832 -- 23,786,979(+) A/G 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)

Additional Variant Information for PITHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for PITHD1 Gene

Additional Disease Information for 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. Novel function of PITH domain-containing 1 as an activator of internal ribosomal entry site to enhance RUNX1 expression and promote megakaryocyte differentiation. (PMID: 25134913) Lu B … Huang Z (Cellular and molecular life sciences : CMLS 2015) 2 3 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways. (PMID: 26972000) Rodriguez J … von Kriegsheim A (Cell reports 2016) 3 56
  5. 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 56

Products for PITHD1 Gene

Sources for PITHD1 Gene