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
  • TXNL1CL 2 3
  • HT014 2 3
  • Chromosome 1 Open Reading Frame 128 2
  • PITHD1 5

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.

UniProtKB/Swiss-Prot Summary for PITHD1 Gene

  • Promotes megakaryocyte differentiation by up-regulating RUNX1 expression (PubMed:25134913). Regulates RUNX1 expression by activating the proximal promoter of the RUNX1 gene and by enhancing the translation activity of an internal ribosome entry site (IRES) element in the RUNX1 gene (PubMed:25134913).

Additional gene information for PITHD1 Gene

No data available for Entrez Gene Summary , CIViC 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 Pubs

Promoters and enhancers for PITHD1 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
GH01J023776 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 606.2 +0.3 332 3.9 CREB1 GATAD2A PRDM10 ZNF629 RFX1 LEF1 IKZF1 ZNF692 POLR2A BACH1 PITHD1 ELOA-AS1 MN308918 KDM1A SRRM1 SRSF10 HNRNPR ELOA E2F2 FUCA1
GH01J023809 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.7 +32.2 32184 2.8 CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 TFE3 LEF1 IKZF1 NFKBIZ FUCA1 PITHD1 ELOA-AS1 HMGCL GALE piR-48143 lnc-GALE-2 MG828730-001
GH01J023895 Enhancer 0.9 ENCODE dbSUPER 10.9 +118.3 118346 2.7 PRDM1 CEBPA EED ZBTB44 RUNX3 CEBPB ZBTB33 ATF2 MAX BCOR FUCA1 ELOA-AS1 PITHD1 SRSF10 piR-50443-007 piR-50437-020 CNR2
GH01J023807 Enhancer 0.8 Ensembl ENCODE 12.4 +29.2 29184 2.4 NFE2 ZNF316 MAFG NFIC MAFK SPI1 PRDM10 KDM1A NFE2L2 POLR2A FUCA1 PITHD1 ELOA-AS1 GALE piR-48143 lnc-GALE-2 HMGCL MG828730-001
GH01J023899 Enhancer 0.8 ENCODE dbSUPER 10.9 +120.8 120819 0.2 YY1 ZNF766 RUNX3 CBFB BCL11A ARNT BATF EBF1 BHLHE40 TAL1 piR-50443-007 FUCA1 PITHD1 ELOA-AS1 SRSF10 piR-50437-020 CNR2
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PITHD1

Genomic Locations for PITHD1 Gene

Genomic Locations for PITHD1 Gene
chr1:23,778,417-23,788,232
(GRCh38/hg38)
Size:
9,816 bases
Orientation:
Plus strand
chr1:24,104,876-24,114,722
(GRCh37/hg19)
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

    Alternative splice isoforms for PITHD1 Gene

    UniProtKB/Swiss-Prot:

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

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

Molecular function for PITHD1 Gene

UniProtKB/Swiss-Prot Function:
Promotes megakaryocyte differentiation by up-regulating RUNX1 expression (PubMed:25134913). Regulates RUNX1 expression by activating the proximal promoter of the RUNX1 gene and by enhancing the translation activity of an internal ribosome entry site (IRES) element in the RUNX1 gene (PubMed:25134913).
UniProtKB/Swiss-Prot Induction:
Up-regulated in K562 and HEL cells undergoing megakaryocyte differentiation induced by phorbol myristate acetate (PMA).

Phenotypes From GWAS Catalog for PITHD1 Gene

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

Animal Models for PITHD1 Gene

MGI Knock Outs for PITHD1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PITHD1 Gene

Localization for PITHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITHD1 Gene

Cytoplasm.

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 4
cytosol 2

Gene Ontology (GO) - Cellular Components for PITHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA,IDA 25134913
genes like me logo Genes that share ontologies with PITHD1: view

No data available for 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0045654 positive regulation of megakaryocyte differentiation IEA,IMP 25134913
GO:0045893 positive regulation of transcription, DNA-templated IDA 25134913
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

mRNA/cDNA for PITHD1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
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: - - -
SP3:
SP4: - -
SP5: - - - -
SP6:

Relevant External Links for PITHD1 Gene

GeneLoc Exon Structure for
PITHD1

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, MaxQB, and MOPED for PITHD1 Gene



Protein tissue co-expression partners for PITHD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PITHD1

SOURCE GeneReport for Unigene cluster for PITHD1 Gene:

Hs.31819

mRNA Expression by UniProt/SwissProt for PITHD1 Gene:

Q9GZP4-PITH1_HUMAN
Tissue specificity: Down-regulated in primary acute myeloid leukemia (AML) patients.

Evidence on tissue expression from TISSUES for PITHD1 Gene

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

No data available for mRNA differential expression in normal tissues 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 30 31
  • 99.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MGC159500 31
  • 99 (a)
OneToOne
PITHD1 30
  • 95.73 (n)
Dog
(Canis familiaris)
Mammalia PITHD1 30 31
  • 96.52 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PITHD1 31
  • 96 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pithd1 30
  • 92.73 (n)
Mouse
(Mus musculus)
Mammalia Pithd1 30 17 31
  • 91.47 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PITHD1 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PITHD1 30 31
  • 72.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PITHD1 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pithd1 30
  • 69.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30364 30
Zebrafish
(Danio rerio)
Actinopterygii pithd1 30
  • 69.9 (n)
PITHD1 31
  • 59 (a)
OneToOne
Dr.13623 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10155 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG6153 30 31
  • 60.99 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010236 30
  • 60.53 (n)
Worm
(Caenorhabditis elegans)
Secernentea ZK353.9 30 31
  • 54.66 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G25950 30
  • 49.03 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0559000 30
  • 52.08 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBP35G2.02 30
  • 46.99 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06751 30
  • 45.16 (n)
Species where no ortholog for PITHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PITHD1: view image

Paralogs for PITHD1 Gene

No data available for Paralogs for PITHD1 Gene

Variants for PITHD1 Gene

Additional dbSNP identifiers (rs#s) for PITHD1 Gene

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
PITHD1

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 PITHD1 Gene

Disorders for PITHD1 Gene

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 4
  2. PITHD1 is a proteasome-interacting protein essential for male fertilization. (PMID: 31915251) Kondo H … Ohigashi I (The Journal of biological chemistry 2020) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  5. Immunohistochemical validation of COL3A1, GPR158 and PITHD1 as prognostic biomarkers in early-stage ovarian carcinomas. (PMID: 31533654) Engqvist H … Helou K (BMC cancer 2019) 3

Products for PITHD1 Gene

Sources for PITHD1 Gene