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Aliases for PIH1D1 Gene
Aliases for PIH1D1 Gene
External Ids for PIH1D1 Gene
- HGNC: 26075
- Entrez Gene: 55011
- Ensembl: ENSG00000104872
- OMIM: 611480
- UniProtKB: Q9NWS0
Previous HGNC Symbols for PIH1D1 Gene
- NOP17
Previous GeneCards Identifiers for PIH1D1 Gene
- GC19M054644
- GC19M049949
- GC19M046326
Summaries for PIH1D1 Gene
GeneCards Summary for PIH1D1 Gene
PIH1D1 (PIH1 Domain Containing 1) is a Protein Coding gene. Diseases associated with PIH1D1 include Primary Ciliary Dyskinesia. An important paralog of this gene is PIH1D2.
UniProtKB/Swiss-Prot Summary for PIH1D1 Gene
-
Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles (PubMed:17636026). Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription (PubMed:22368283, PubMed:24036451). Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1 (PubMed:20864032). Positively regulates the assembly and activity of the mTORC1 complex (PubMed:24036451).
Additional gene information for PIH1D1 Gene
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIH1D1 Gene
Genomics for PIH1D1 Gene
GeneHancer (GH) Regulatory Elements for PIH1D1 Gene
Promoters and enhancers for PIH1D1 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 PIH1D1 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIH1D1
- Top Transcription factor binding sites by QIAGEN in the PIH1D1 gene promoter:
-
- AP-2alpha
- AP-2alphaA
- AP-2beta
- AP-2gamma
- HOXA5
- MRF-2
- NF-kappaB
- NF-kappaB1
- Pax-5
- RelA
Genomic Locations for PIH1D1 Gene
Genomic Locations for PIH1D1 Gene
- chr19:49,446,293-49,453,497
- (GRCh38/hg38)
- Size:
- 7,205 bases
- Orientation:
- Minus strand
- chr19:49,949,550-49,956,754
- (GRCh37/hg19)
- Size:
- 7,205 bases
- Orientation:
- Minus strand
Genomic View for PIH1D1 Gene
Genes around PIH1D1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
PIH1D1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PIH1D1 Gene
Proteins for PIH1D1 Gene
-
Protein details for PIH1D1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NWS0-PIHD1_HUMAN
- Recommended name:
- PIH1 domain-containing protein 1
- Protein Accession:
- Q9NWS0
- B4DGN7
- B4E2X7
- Q9BVL0
Protein attributes for PIH1D1 Gene
- Size:
- 290 amino acids
- Molecular mass:
- 32363 Da
- Quaternary structure:
-
- Component of the R2TP complex composed at least of PIHD1, RUVBL1, RUVBL2 and RPAP3 (PubMed:20864032). Interacts with phosphorylated TELO2 and mediates interaction of TELO2 with the R2TP complex (PubMed:20864032, PubMed:24656813). Interacts with phosphorylated ECD, EFTUD2/SNRP116, RPB1 and UBR5 and with RPB1 in a phosphorylation-independent manner (PubMed:24656813). Interacts with the core C/D box snoRNP particle components NOP58 and FBL and with RUVBL1/TIP49 (PubMed:17636026). Interacts with RPAP3 and WDR92 (PubMed:21078300). Interacts with histone H4 and with SWI/SNF complex member SMARCB1/SNF5 (PubMed:22368283). Interacts with the mTORC1 complex member RPTOR (PubMed:24036451). Interacts with MSL1 (By similarity).
Protein Expression for PIH1D1 Gene
Post-translational modifications for PIH1D1 Gene
Other Protein References for PIH1D1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-PIH1D1 (aa 234-283) polyclonal antibody
- Creative Biolabs Recombinant Mouse anti-Human PIH1D1 Monoclonal antibody (EML1691)
-
Custom Antibody ServicesOriGene Antibodies for PIH1D1
- Novus Biologicals Antibodies for PIH1D1
- Invitrogen Antibodies for PIH1D1 (AFLGC-PIH1D1)
- antibodies-online: Show 13 available PIH1D1 Antibodies ranked by validation data
-
Biorbyt antibodies for PIH1D1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PIH1D1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PIH1D1
- Origene Custom Protein Services for PIH1D1
- ProSpec Recombinant Proteins for PIH1D1
-
Abcam proteins for PIH1D1
Assay Products
- Creative Diagnostics Human PIH1D1 ELISA Matched Antibody Pair
No data available for DME Specific Peptides for PIH1D1 Gene
Domains & Families for PIH1D1 Gene
Gene Families for PIH1D1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PIH1D1 Gene
- Blocks:
-
- Nop17p
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PIH1D1 Gene
- GenScript: Design optimal peptide antigens:
-
- Nucleolar protein 17 homolog (PIHD1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NWS0UniProtKB/Swiss-Prot:
PIHD1_HUMAN :- The N-terminal region is required for binding to phosphorylated substrates while the C-terminal region binds to the other R2TP complex components.
- Belongs to the PIH1 family.
- Domain:
-
- The N-terminal region is required for binding to phosphorylated substrates while the C-terminal region binds to the other R2TP complex components.
- Family:
-
- Belongs to the PIH1 family.
Function for PIH1D1 Gene
Molecular function for PIH1D1 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in the assembly of C/D box small nucleolar ribonucleoprotein (snoRNP) particles (PubMed:17636026). Recruits the SWI/SNF complex to the core promoter of rRNA genes and enhances pre-rRNA transcription (PubMed:22368283, PubMed:24036451). Mediates interaction of TELO2 with the R2TP complex which is necessary for the stability of MTOR and SMG1 (PubMed:20864032). Positively regulates the assembly and activity of the mTORC1 complex (PubMed:24036451).
Phenotypes From GWAS Catalog for PIH1D1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001164 | RNA polymerase I CORE element sequence-specific DNA binding | IMP | 22368283 |
| GO:0001165 | NOT RNA polymerase I upstream control element sequence-specific DNA binding | IDA | 22368283 |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0019901 | protein kinase binding | IPI | 24036451 |
| GO:0042393 | histone binding | IPI | 22368283 |
Phenotypes for PIH1D1 Gene
Animal Model Products
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CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PIH1D1 - Select products 50% OFF >
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for PIH1D1
miRNA for PIH1D1 Gene
- miRTarBase miRNAs that target PIH1D1
miRNA Products
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for available PIH1D1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for PIH1D1 - Select products 50% OFF >
- * PIH1D1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PIH1D1
- Addgene plasmids for PIH1D1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIH1D1
- genomics-online: cdna clones - Search results for available PIH1D1 gene related products
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Cell Line Products
-
Horizon Cell Lines for PIH1D1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PIH1D1 Gene
Localization for PIH1D1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PIH1D1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 22368283 |
| GO:0005730 | nucleolus | IDA | 22368283 |
| GO:0005737 | cytoplasm | IBA,IDA | 22368283 |
| GO:0070761 | pre-snoRNP complex | IDA | 17636026 |
| GO:0097255 | R2TP complex | IDA | 21078300 |
Pathways & Interactions for PIH1D1 Gene
Interacting Proteins for PIH1D1 Gene
Selected Interacting proteins:
Q9NWS0-PIHD1_HUMAN
ENSP00000262265
for PIH1D1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PIH1D1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000492 | box C/D snoRNP assembly | IMP | 17636026 |
| GO:0001188 | RNA polymerase I preinitiation complex assembly | IEA | -- |
| GO:0006338 | chromatin remodeling | IMP | 22368283 |
| GO:0006364 | rRNA processing | IBA | 21873635 |
| GO:0030855 | epithelial cell differentiation | IEP | 21492153 |
No data available for Pathways by source and SIGNOR curated interactions for PIH1D1 Gene
Transcripts for PIH1D1 Gene
mRNA/cDNA for PIH1D1 Gene
- 1 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262265 1197 bps (ENST00000262265.10)
- ENST00000593629 1084 bps (ENST00000593629.5)
- ENST00000593900 932 bps (ENST00000593900.5)
- ENST00000594845 489 bps (ENST00000594845.5)
- ENST00000595074 1037 bps (ENST00000595074.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PIH1D1 - Select products 50% OFF >
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-
OriGene CRISPR knockouts for PIH1D1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIH1D1
- genomics-online: gRNA clones - Search results for available PIH1D1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIH1D1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIH1D1
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIH1D1
- genomics-online: shRNA clones - Search results for available PIH1D1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for PIH1D1 - Select products 50% OFF >
- * PIH1D1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PIH1D1
- Addgene plasmids for PIH1D1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIH1D1
- genomics-online: cdna clones - Search results for available PIH1D1 gene related products
- orf clones - Search results for available PIH1D1 gene related products
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | · | 1h | · | 1i | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | ^ | 8 | ^ | 9 | ^ | 10 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 11 |
|---|---|
| SP1: | |
| SP2: | |
| SP3: | |
| SP4: | |
| SP5: | |
| SP6: | |
| SP7: | |
| SP8: | |
| SP9: | |
| SP10: | |
| SP11: |
Relevant External Links for PIH1D1 Gene
- GeneLoc Exon Structure for
- PIH1D1
Expression for PIH1D1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Peripheral blood mononuclear cells (10.6), Breast (9.9), Lymph node (9.8), and Pancreas (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIH1D1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIH1D1
SOURCE GeneReport for Unigene cluster for PIH1D1 Gene:
Hs.5245mRNA Expression by UniProt/SwissProt for PIH1D1 Gene:
Q9NWS0-PIHD1_HUMAN
Tissue specificity:
Expressed at low levels in normal mammary epithelial cells (at protein level) (PubMed:24036451). Highest expression in lung, leukocyte and placenta. Expressed at lower levels in brain, prostate, colon, heart, small intestine, liver, ovary, pancreas, skeletal muscle, spleen, testis and thymus (PubMed:21078300).
Evidence on tissue expression from TISSUES for PIH1D1 Gene
- Nervous system(4.7)
- Skin(4.6)
- Lung(3.2)
- Eye(3)
- Pancreas(2.2)
Primer Products
-
OriGene qPCR primer pairs for PIH1D1
-
OriGene qPCR primer pairs and template standards for PIH1D1
- genomics-online: primer clones - Search results for available PIH1D1 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIH1D1 Gene
Orthologs for PIH1D1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PIH1D1 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PIH1D1 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PIH1D1 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Pih1d1 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Pih1d1 17 31 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PIH1D1 31 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PIH1D1 31 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PIH1D1 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pih1d1 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pih1d1 31 30 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG5792 30 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | F32D8.4 31 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PIH1 33 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for PIH1D1 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)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- 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 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)
Evolution for PIH1D1 Gene
- ENSEMBL:
- Gene Tree for PIH1D1 (if available)
- TreeFam:
- Gene Tree for PIH1D1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PIH1D1: view image
Paralogs for PIH1D1 Gene
Variants for PIH1D1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIH1D1 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs13394 | - | p.Val224Ile | |||
| rs2293012 | - | p.Met9Leu | |||
| rs2293013 | - | p.Gly10Glu | |||
| rs34198213 | - | p.Asp230Glu | |||
| rs7462 | - | p.Pro287Leu |
Residual Variation Intolerance Score:
62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.09;
75.40% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PIH1D1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PIH1D1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIH1D1 Gene
Disorders for PIH1D1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| primary ciliary dyskinesia |
|
|
Search PIH1D1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PIH1D1
No data available for UniProtKB/Swiss-Prot and Genatlas for PIH1D1 Gene
Publications for PIH1D1 Gene
- PIH1D1, a subunit of R2TP complex, inhibits doxorubicin-induced apoptosis. (PMID: 21078300) Inoue M … Kamisaki Y (Biochemical and biophysical research communications 2010) 2 3 4 54
- Phosphorylation-dependent PIH1D1 interactions define substrate specificity of the R2TP cochaperone complex. (PMID: 24656813) Hořejší Z … Boulton SJ (Cell reports 2014) 3 4 54
- PIH1D1 interacts with mTOR complex 1 and enhances ribosome RNA transcription. (PMID: 24036451) Kamano Y … Kamisaki Y (FEBS letters 2013) 3 4 54
- Human PIH1 associates with histone H4 to mediate the glucose-dependent enhancement of pre-rRNA synthesis. (PMID: 22368283) Zhai N … Shen YF (Journal of molecular cell biology 2012) 3 4 54
- CK2 phospho-dependent binding of R2TP complex to TEL2 is essential for mTOR and SMG1 stability. (PMID: 20864032) Horejsí Z … Boulton SJ (Molecular cell 2010) 3 4 54
ExternalLinks
Products for PIH1D1 Gene
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- Find your target
- Browse Primary Antibodies
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- VectorBuilder Stable cell line generation for PIH1D1
- Addgene plasmids for PIH1D1
- antibodies-online: Show 13 available PIH1D1 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for PIH1D1
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- Horizon Cell Lines for PIH1D1
- genomics-online: cdna clones - Search results for available PIH1D1 gene related products
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- Biorbyt antibodies for PIH1D1
Sources for PIH1D1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
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