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Aliases for P3H4 Gene

Aliases for P3H4 Gene

  • Prolyl 3-Hydroxylase Family Member 4 (Non-Enzymatic) 2 3 5
  • Nucleolar Autoantigen (55kD) 2 3
  • Nucleolar Autoantigen No55 3 4
  • Leprecan-Like Protein 4 3 4
  • Leprecan-Like 4 2 3
  • LEPREL4 3 4
  • NOL55 3 4
  • SC65 3 4
  • Prolyl 3-Hydroxylase Family Member 4 4
  • Synaptonemal Complex Protein SC65 3
  • Rat Synaptonemal Complex Protein 2
  • Nucleolar Autoantigen, 55kDa 3
  • NO55 3

External Ids for P3H4 Gene

Previous HGNC Symbols for P3H4 Gene


Summaries for P3H4 Gene

Entrez Gene Summary for P3H4 Gene

  • This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]

GeneCards Summary for P3H4 Gene

P3H4 (Prolyl 3-Hydroxylase Family Member 4 (Non-Enzymatic)) is a Protein Coding gene. Diseases associated with P3H4 include Cystitis. An important paralog of this gene is CRTAP.

Gene Wiki entry for P3H4 Gene

Additional gene information for P3H4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P3H4 Gene

Genomics for P3H4 Gene

Regulatory Elements for P3H4 Gene

Enhancers for P3H4 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
GH17H042515 2 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -709.3 -709277 12.2 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 MLX TUBG2 ENSG00000267002 CAVIN1 NAGLU ENSG00000267340 RAB5C KAT2A ATP6V0A1 RNU7-97P
GH17H041687 1.7 Ensembl ENCODE dbSUPER 10.4 +122.2 122218 6.1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 ENSG00000267758 ENSG00000259623 KLHL10 CNTNAP1 HSD17B1 NT5C3B KAT2A KLHL11 ACLY TMEM99
GH17H041810 1.1 ENCODE 15.4 -0.2 -197 4.4 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF302 ZNF207 ZNF143 DHX58 NT5C3B CNTD1 P3H4 FKBP10 CAVIN1 RETREG3 KAT2A HSD17B1 ENSG00000267758
GH17H041705 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +106.8 106804 1.6 SOX5 SOX13 FOXA2 MNT HMG20A ZNF384 ZFHX2 ZNF366 POLR2A ZNF24 HAP1 RN7SL399P FKBP10 P3H4 KLHL10 NT5C3B ENSG00000267765 ZNF385C TTC25 GAST
GH17H042386 1.4 ENCODE dbSUPER 11.2 -575.8 -575832 4.3 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 NBR1 ENSG00000267340 ENSG00000267765 ENSG00000267002 KLHL10 TUBG2 PSMC3IP CAVIN1 KAT2A STAT3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around P3H4 on UCSC Golden Path with GeneCards custom track

Promoters for P3H4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094294 16 2801 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF302 ZNF207 ZNF143 SP3

Genomic Locations for P3H4 Gene

Genomic Locations for P3H4 Gene
10,670 bases
Minus strand

Genomic View for P3H4 Gene

Genes around P3H4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P3H4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P3H4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P3H4 Gene

Proteins for P3H4 Gene

  • Protein details for P3H4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Synaptonemal complex protein SC65
    Protein Accession:
    Secondary Accessions:
    • Q53GI6
    • Q9H4F6

    Protein attributes for P3H4 Gene

    437 amino acids
    Molecular mass:
    50381 Da
    Quaternary structure:
    No Data Available

neXtProt entry for P3H4 Gene

Post-translational modifications for P3H4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for P3H4 Gene

No data available for DME Specific Peptides for P3H4 Gene

Domains & Families for P3H4 Gene

Gene Families for P3H4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for P3H4 Gene


Suggested Antigen Peptide Sequences for P3H4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the leprecan family.
  • Belongs to the leprecan family.
genes like me logo Genes that share domains with P3H4: view

Function for P3H4 Gene

Phenotypes From GWAS Catalog for P3H4 Gene

Phenotypes for P3H4 Gene

genes like me logo Genes that share phenotypes with P3H4: view

Animal Models for P3H4 Gene

MGI Knock Outs for P3H4:

Animal Model Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for P3H4 Gene

Localization for P3H4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P3H4 Gene

Nucleus, nucleolus. Chromosome. Note=Localized uniformly throughout the granular component of the nucleolus and on the surface of chromosomes during mitosis.

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 P3H4 gene
Compartment Confidence
nucleus 5
extracellular 2
mitochondrion 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for P3H4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000794 condensed nuclear chromosome TAS 8862517
GO:0000795 synaptonemal complex TAS 8862517
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
GO:0005730 nucleolus TAS,IEA --
genes like me logo Genes that share ontologies with P3H4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for P3H4 Gene

Pathways & Interactions for P3H4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for P3H4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007130 synaptonemal complex assembly TAS 8862517
GO:0017185 peptidyl-lysine hydroxylation ISS --
GO:0030199 collagen fibril organization ISS --
GO:0032964 collagen biosynthetic process ISS --
GO:0046849 bone remodeling ISS --
genes like me logo Genes that share ontologies with P3H4: view

No data available for Pathways by source and SIGNOR curated interactions for P3H4 Gene

Drugs & Compounds for P3H4 Gene

No Compound Related Data Available

Transcripts for P3H4 Gene

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for P3H4 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10
SP1: - - - -
SP2: - - - -
SP5: - - -

Relevant External Links for P3H4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for P3H4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for P3H4 Gene

Protein differential expression in normal tissues from HIPED for P3H4 Gene

This gene is overexpressed in Bone (50.1) and Fetal ovary (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for P3H4 Gene

Protein tissue co-expression partners for P3H4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of P3H4 Gene:


Evidence on tissue expression from TISSUES for P3H4 Gene

  • Nervous system(4.6)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with P3H4: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for P3H4 Gene

Orthologs for P3H4 Gene

This gene was present in the common ancestor of animals.

Orthologs for P3H4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LEPREL4 33 34
  • 99.11 (n)
(Bos Taurus)
Mammalia LEPREL4 34
  • 93 (a)
(Canis familiaris)
Mammalia LEPREL4 33 34
  • 90.21 (n)
(Mus musculus)
Mammalia Leprel4 33 34
  • 88.03 (n)
P3h4 16
(Rattus norvegicus)
Mammalia Leprel4 33
  • 88.02 (n)
(Monodelphis domestica)
Mammalia LEPREL4 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia LEPREL4 34
  • 60 (a)
(Gallus gallus)
Aves LOC430099 33
  • 73.74 (n)
  • 66 (a)
(Anolis carolinensis)
Reptilia LEPREL4 34
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia leprel4 33
  • 64.7 (n)
Str.16255 33
(Danio rerio)
Actinopterygii leprel4 33 34
  • 58.33 (n)
(Caenorhabditis elegans)
Secernentea Y73F8A.26 34
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
Species where no ortholog for P3H4 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)
  • fruit fly (Drosophila melanogaster)
  • 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 P3H4 Gene

Gene Tree for P3H4 (if available)
Gene Tree for P3H4 (if available)

Paralogs for P3H4 Gene

Paralogs for P3H4 Gene

genes like me logo Genes that share paralogs with P3H4: view

Variants for P3H4 Gene

Sequence variations from dbSNP and Humsavar for P3H4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs114527140 Uncertain significance 41,812,768(+) GGGGG(A/G/T)AGGGG upstream-variant-2KB, utr-variant-5-prime
rs533813401 Uncertain significance 41,812,852(+) CCCCT(C/G)CCCCG upstream-variant-2KB, utr-variant-5-prime
rs555053677 Uncertain significance 41,812,858(+) CCCCG(C/G)TCCTC upstream-variant-2KB, utr-variant-5-prime
rs572425083 Uncertain significance 41,813,078(+) GCTCC(C/G)CCTGC upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs781985978 Uncertain significance 41,813,055(+) CCCCC(A/C/T)AGCCA upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for P3H4 Gene

Variant ID Type Subtype PubMed ID
nsv833447 CNV loss 17160897
nsv1146669 OTHER inversion 26484159
nsv1109076 CNV deletion 24896259
nsv1060502 CNV gain 25217958
esv3640595 CNV loss 21293372
esv2664779 CNV deletion 23128226
dgv3174n100 CNV gain 25217958

Variation tolerance for P3H4 Gene

Residual Variation Intolerance Score: 31.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.98; 89.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for P3H4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P3H4 Gene

Disorders for P3H4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for P3H4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
  • infective cystitis
- elite association - COSMIC cancer census association via MalaCards
Search P3H4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for P3H4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with P3H4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for P3H4 Gene

Publications for P3H4 Gene

  1. cDNA cloning and characterization of a novel nucleolar protein. (PMID: 8862517) Ochs RL … Tan EM (Molecular biology of the cell 1996) 2 3 4 60
  2. 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
  3. Identification of nucleolar protein No55 as a tumour-associated autoantigen in patients with prostate cancer. (PMID: 10952778) Fosså A … Gaudernack G (British journal of cancer 2000) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X … Chen J (Molecular systems biology 2015) 3 60

Products for P3H4 Gene

Sources for P3H4 Gene

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