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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.

No data available for Entrez Gene 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
GH01F023809 1.3 Ensembl ENCODE 11.6 +32.0 31977 2.1 HDGF PKNOX1 ATF1 ARID4B ZNF48 ZNF2 YY1 GTF3C2 GATA2 ZNF143 FUCA1 ELOA ELOA-AS1 PITHD1 RPL11 LINC01355 PIR41142 GC01P023838
GH01F022824 1.2 Ensembl ENCODE 10.3 -949.5 -949453 8.4 HDAC1 TBP NFXL1 RAD21 BRCA1 YY1 RCOR1 FOS EGR2 SMARCA5 EPHB2 ZNF436-AS1 LINC01355 PITHD1 ENSG00000225952 GC01M022785
GH01F023894 1 Ensembl ENCODE 10.9 +118.0 118015 3.6 BCOR ELF3 MAX ZNF23 ZNF316 EED ETV6 CREM HLF CEBPB FUCA1 PITHD1 ELOA-AS1 SRSF10 HMGCL BTBD6P1 GC01M023881
GH01F023899 0.8 Ensembl ENCODE 10.9 +121.0 121015 0.8 ARID1B ESRRA ZNF512 BHLHE40 CBFB CREM FUCA1 ELOA-AS1 PITHD1 SRSF10 MYOM3 BTBD6P1 GC01M023881
GH01F023751 0.7 ENCODE 12.4 -26.9 -26911 0.3 SCRT1 ELF3 CTCF ZNF654 WRNIP1 ARID4B TRIM22 REST ZNF2 RAD21 PITHD1 ELOA-AS1 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

Genomic Location for PITHD1 Gene

23,778,386 bp from pter
23,788,232 bp from pter
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
    • Sequence=CAI23142.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PITHD1 Gene


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

Protein Domains for PITHD1 Gene


Suggested Antigen Peptide Sequences for PITHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 PITH domain.
  • Belongs to the PITHD1 family.
  • Contains 1 PITH domain.
  • Belongs to the PITHD1 family.
genes like me logo Genes that share domains with PITHD1: view

No data available for Gene Families for PITHD1 Gene

Function for PITHD1 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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 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 for PITHD1 Gene

Pathways & Interactions for PITHD1 Gene

SuperPathways for PITHD1 Gene

No Data Available

Interacting Proteins for PITHD1 Gene

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

Transcripts for PITHD1 Gene

Unigene Clusters for PITHD1 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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:


SOURCE GeneReport for Unigene cluster for PITHD1 Gene:

genes like me logo Genes that share expression patterns with PITHD1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.05 (n)
(Bos Taurus)
Mammalia MGC159500 35
  • 99 (a)
  • 95.73 (n)
(Canis familiaris)
Mammalia PITHD1 34 35
  • 96.52 (n)
(Monodelphis domestica)
Mammalia PITHD1 35
  • 96 (a)
(Rattus norvegicus)
Mammalia Pithd1 34
  • 92.73 (n)
(Mus musculus)
Mammalia Pithd1 34 16 35
  • 91.47 (n)
(Ornithorhynchus anatinus)
Mammalia PITHD1 35
  • 69 (a)
(Gallus gallus)
Aves PITHD1 34 35
  • 72.08 (n)
(Anolis carolinensis)
Reptilia PITHD1 35
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pithd1 34
  • 69.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30364 34
(Danio rerio)
Actinopterygii pithd1 34
  • 69.9 (n)
  • 59 (a)
Dr.13623 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10155 34
fruit fly
(Drosophila melanogaster)
Insecta CG6153 34 35
  • 60.99 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010236 34
  • 60.53 (n)
(Caenorhabditis elegans)
Secernentea ZK353.9 34 35
  • 54.66 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G25950 34
  • 49.03 (n)
(Oryza sativa)
Liliopsida Os01g0559000 34
  • 52.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBP35G2.02 34
  • 46.99 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06751 34
  • 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)

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
rs1046924 -- 23,787,334(+) GACCA(C/T)AGGGT reference, synonymous-codon
rs10636542 -- 23,786,639(+) ATATA(-/AT)ATATA intron-variant
rs10917425 -- 23,782,193(+) gcagg(C/T)ggatt intron-variant
rs111948422 -- 23,787,468(+) GAGAG(C/T)TGGCT utr-variant-3-prime
rs112266351 -- 23,786,834(+) TGATC(A/T)GCCCA intron-variant

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

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

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

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:

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 R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  2. 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. (Cell. Mol. Life Sci. 2015) 3 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64

Products for PITHD1 Gene

Sources for PITHD1 Gene

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