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Aliases for PIH1D3 Gene

Aliases for PIH1D3 Gene

  • PIH1 Domain Containing 3 2 3 5
  • Sarcoma Antigen NY-SAR-97 2 3 4
  • PIH1 Domain-Containing Protein 3 3 4
  • CXorf41 3 4
  • Chromosome X Open Reading Frame 41 2
  • Protein PIH1D3 3
  • NYSAR97 3
  • CILD36 3

External Ids for PIH1D3 Gene

Previous HGNC Symbols for PIH1D3 Gene

  • CXorf41

Previous GeneCards Identifiers for PIH1D3 Gene

  • GC0XP106450

Summaries for PIH1D3 Gene

GeneCards Summary for PIH1D3 Gene

PIH1D3 (PIH1 Domain Containing 3) is a Protein Coding gene. Diseases associated with PIH1D3 include Ciliary Dyskinesia, Primary, 36, X-Linked and Primary Ciliary Dyskinesia 36: Pih1d3-Related Primary Ciliary Dyskinesia. GO annotations related to this gene include chaperone binding.

UniProtKB/Swiss-Prot for PIH1D3 Gene

  • Plays a role in cytoplasmic pre-assembly of axonemal dynein.

Additional gene information for PIH1D3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIH1D3 Gene

Genomics for PIH1D3 Gene

Regulatory Elements for PIH1D3 Gene

Enhancers for PIH1D3 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
GH0XH107134 1.1 Ensembl ENCODE 12.6 -70.1 -70141 3 TBP SOX13 LEF1 GTF2E2 NFRKB ETV1 JUN ZNF175 CEBPG ZBTB40 PIH1D3 NUP62CL RBM41 FRMPD3 MYCLP1 LOC644563 GC0XM107132
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIH1D3 on UCSC Golden Path with GeneCards custom track

Promoters for PIH1D3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247833 -458 1399 PKNOX1 ATF1 ARID4B SIN3A TCF12 FOS SP3 NFYC REST ZNF592

Genomic Location for PIH1D3 Gene

107,206,559 bp from pter
107,244,243 bp from pter
37,685 bases
Plus strand

Genomic View for PIH1D3 Gene

Genes around PIH1D3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIH1D3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIH1D3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIH1D3 Gene

Proteins for PIH1D3 Gene

  • Protein details for PIH1D3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein PIH1D3
    Protein Accession:
    Secondary Accessions:
    • D3DUX5
    • Q86WE1

    Protein attributes for PIH1D3 Gene

    214 amino acids
    Molecular mass:
    24069 Da
    Quaternary structure:
    • Interacts with HSPA1A/B, HSP90AA1 and DNAI2 (By similarity). Interacts with DNAAF2 and DNAAF4 (PubMed:28041644).
    • Sequence=AAO65181.1; Type=Frameshift; Positions=162; Evidence={ECO:0000305};

neXtProt entry for PIH1D3 Gene

Post-translational modifications for PIH1D3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIH1D3 Gene

No data available for DME Specific Peptides for PIH1D3 Gene

Domains & Families for PIH1D3 Gene

Gene Families for PIH1D3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PIH1D3 Gene

Suggested Antigen Peptide Sequences for PIH1D3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PIH1 family.
  • Belongs to the PIH1 family.
genes like me logo Genes that share domains with PIH1D3: view

Function for PIH1D3 Gene

Molecular function for PIH1D3 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in cytoplasmic pre-assembly of axonemal dynein.

Gene Ontology (GO) - Molecular Function for PIH1D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0051087 chaperone binding ISS --
genes like me logo Genes that share ontologies with PIH1D3: view

Phenotypes for PIH1D3 Gene

GenomeRNAi human phenotypes for PIH1D3:
genes like me logo Genes that share phenotypes with PIH1D3: view

Human Phenotype Ontology for PIH1D3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PIH1D3 Gene

miRTarBase miRNAs that target PIH1D3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PIH1D3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for PIH1D3 Gene

Localization for PIH1D3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIH1D3 Gene

Cytoplasm. Note=Localized to the cytoplasm of spermatogenic cells. {ECO:0000250 UniProtKB:Q3KNI6}.

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 PIH1D3 gene
Compartment Confidence
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for PIH1D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with PIH1D3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIH1D3 Gene

Pathways & Interactions for PIH1D3 Gene

SuperPathways for PIH1D3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PIH1D3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IMP 28041644
GO:0030317 flagellated sperm motility ISS --
GO:0070286 axonemal dynein complex assembly ISS --
genes like me logo Genes that share ontologies with PIH1D3: view

No data available for Pathways by source and SIGNOR curated interactions for PIH1D3 Gene

Drugs & Compounds for PIH1D3 Gene

No Compound Related Data Available

Transcripts for PIH1D3 Gene

mRNA/cDNA for PIH1D3 Gene

(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PIH1D3 Gene

PIH1 domain containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PIH1D3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PIH1D3 Gene

No ASD Table

Relevant External Links for PIH1D3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PIH1D3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIH1D3 Gene

mRNA differential expression in normal tissues according to GTEx for PIH1D3 Gene

This gene is overexpressed in Testis (x31.2).

NURSA nuclear receptor signaling pathways regulating expression of PIH1D3 Gene:


SOURCE GeneReport for Unigene cluster for PIH1D3 Gene:


mRNA Expression by UniProt/SwissProt for PIH1D3 Gene:

Tissue specificity: Expressed in testis, small intestine, prostate, adrenal gland, spleen, lung, bladder, breast and ovary.

Evidence on tissue expression from TISSUES for PIH1D3 Gene

  • Lung(4.1)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with PIH1D3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIH1D3 Gene

Orthologs for PIH1D3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PIH1D3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PIH1D3 33 34
  • 89.95 (n)
(Canis familiaris)
Mammalia PIH1D3 33 34
  • 81.46 (n)
(Bos Taurus)
Mammalia PIH1D3 33
  • 76.91 (n)
  • 70 (a)
(Rattus norvegicus)
Mammalia Pih1d3 33
  • 75.4 (n)
(Mus musculus)
Mammalia Pih1d3 33 34
  • 73.97 (n)
E230019M04Rik 34
  • 59 (a)
Pih1h3b 16
(Monodelphis domestica)
Mammalia PIH1D3 34
  • 56 (a)
(Ornithorhynchus anatinus)
Mammalia PIH1D3 34
  • 55 (a)
(Gallus gallus)
Aves C4HXORF41 33
  • 61.99 (n)
PIH1D3 34
  • 50 (a)
(Anolis carolinensis)
Reptilia PIH1D3 34
  • 43 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pih1d3 33
  • 58.42 (n)
(Danio rerio)
Actinopterygii pih1d3 33 34
  • 54.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5048 34 33
  • 44.64 (n)
Species where no ortholog for PIH1D3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PIH1D3 Gene

Gene Tree for PIH1D3 (if available)
Gene Tree for PIH1D3 (if available)

Paralogs for PIH1D3 Gene

No data available for Paralogs for PIH1D3 Gene

Variants for PIH1D3 Gene

Sequence variations from dbSNP and Humsavar for PIH1D3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1057519568 Pathogenic 107,222,769(+) CAGCA(-/GGTGGGA)ACTGA reference, frameshift-variant
rs1057519569 Pathogenic 107,222,767(+) GACAG(C/T)AGGTG reference, stop-gained
rs1000173182 -- 107,230,943(+) TTCCA(C/T)CTAGT intron-variant
rs1000231442 -- 107,209,992(+) GTCTG(A/G)AGCCA intron-variant
rs1000314060 -- 107,204,721(+) AATTA(A/T)TTATT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PIH1D3 Gene

Variant ID Type Subtype PubMed ID
esv2740376 CNV deletion 23290073
nsv519484 CNV gain 19592680
nsv7027 CNV insertion 18451855

Variation tolerance for PIH1D3 Gene

Residual Variation Intolerance Score: 39.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.23; 5.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIH1D3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIH1D3 Gene

Disorders for PIH1D3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PIH1D3 Gene - From: HGMD, OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 36, x-linked
  • ciliary dyskinesia, primary, 36, with or without situs inversus
primary ciliary dyskinesia 36: pih1d3-related primary ciliary dyskinesia
  • ciliary dyskinesia, primary, 36, x-linked
primary ciliary dyskinesia
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Ciliary dyskinesia, primary, 36, X-linked (CILD36) [MIM:300991]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node. {ECO:0000269 PubMed:28041644}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIH1D3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PIH1D3: view

No data available for Genatlas for PIH1D3 Gene

Publications for PIH1D3 Gene

  1. Immunomic analysis of human sarcoma. (PMID: 12601173) Lee SY … Scanlan MJ (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4 60
  2. Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. (PMID: 28041644) Paff T … Micha D (American journal of human genetics 2016) 3 4 60
  3. Pih1d3 is required for cytoplasmic preassembly of axonemal dynein in mouse sperm. (PMID: 24421334) Dong F … Hamada H (The Journal of cell biology 2014) 2 3 60
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for PIH1D3 Gene

Sources for PIH1D3 Gene

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