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Aliases for PITHD1 Gene

Aliases for PITHD1 Gene

  • PITH Domain Containing 1 2 3
  • PITH (C-Terminal Proteasome-Interacting Domain Of Thioredoxin-Like) Domain Containing 1 2 3 5
  • 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.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around PITHD1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PITHD1 Gene at MOPED

Post-translational modifications for PITHD1 Gene

Other Protein References for PITHD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PITHD1 Gene

Domains & Families for PITHD1 Gene

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 :
  • Contains 1 PITH domain.
  • Belongs to the PITHD1 family.
Domain:
  • Contains 1 PITH domain.
Family:
  • 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

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
Jensen Localization Image for PITHD1 Gene COMPARTMENTS Subcellular localization image for PITHD1 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PITHD1 Gene

Pathways & Interactions for PITHD1 Gene

SuperPathways for PITHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PITHD1 Gene

None

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:

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 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, MOPED, and MaxQB for PITHD1 Gene



SOURCE GeneReport for Unigene cluster for PITHD1 Gene Hs.31819

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

Protein tissue co-expression partners for PITHD1 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia PITHD1 35
  • 95.73 (n)
  • 98.58 (a)
MGC159500 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PITHD1 35
  • 96.52 (n)
  • 99.05 (a)
PITHD1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pithd1 35
  • 91.47 (n)
  • 98.1 (a)
Pithd1 16
Pithd1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PITHD1 35
  • 99.05 (n)
  • 99.53 (a)
PITHD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pithd1 35
  • 92.73 (n)
  • 99.05 (a)
oppossum
(Monodelphis domestica)
Mammalia PITHD1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PITHD1 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PITHD1 35
  • 72.08 (n)
  • 71.07 (a)
PITHD1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PITHD1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pithd1 35
  • 69.51 (n)
  • 74.87 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30364 35
zebrafish
(Danio rerio)
Actinopterygii Dr.13623 35
pithd1 35
  • 69.9 (n)
  • 75 (a)
PITHD1 36
  • 59 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10155 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010236 35
  • 60.53 (n)
  • 59.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6153 35
  • 60.99 (n)
  • 56.91 (a)
CG6153 36
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ZK353.9 35
  • 54.66 (n)
  • 47.85 (a)
ZK353.9 36
  • 46 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G25950 35
  • 49.03 (n)
  • 41.86 (a)
rice
(Oryza sativa)
Liliopsida Os01g0559000 35
  • 52.08 (n)
  • 46.02 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06751 35
  • 45.16 (n)
  • 37.21 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBP35G2.02 35
  • 46.99 (n)
  • 36.17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for PITHD1:
  • 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
rs4237 -- 23,787,639(-) TGTTA(C/T)CCATG utr-variant-3-prime
rs15778 -- 23,787,311(+) ACGAA(G/T)CATCT reference, missense
rs725119 -- 23,780,718(-) tttgt(A/T)ttttt intron-variant
rs1046924 -- 23,787,334(+) GACCA(C/T)AGGGT reference, synonymous-codon
rs1801079 -- 23,788,183(-) AATAA(A/C/G/T)AGCCA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 67
  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
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Proteomic characterization of the human sperm nucleus. (PMID: 21630459) de Mateo S. … Oliva R. (Proteomics 2011) 3

Products for PITHD1 Gene

Sources for PITHD1 Gene

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