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Aliases for PUDP Gene

Aliases for PUDP Gene

  • Pseudouridine 5'-Phosphatase 2
  • Haloacid Dehalogenase-Like Hydrolase Domain-Containing Protein 1A 3 4
  • Haloacid Dehalogenase-Like Hydrolase Domain-Containing Protein 1 3 4
  • Haloacid Dehalogenase-Like Hydrolase Domain Containing 1A 2 3
  • Haloacid Dehalogenase-Like Hydrolase Domain Containing 1 2 3
  • Family With Sequence Similarity 16, Member A, X-Linked 2 3
  • Pseudouridine-5-Monophosphatase 3 4
  • Pseudouridine 5-Phosphatase 2 3
  • 5-PsiMPase 3 4
  • DXF68S1E 3 4
  • FAM16AX 3 4
  • HDHD1A 3 4
  • GS1 3 4
  • Protein GS1 4
  • EC 3.1.3.96 4
  • HDHD1 3

External Ids for PUDP Gene

Previous HGNC Symbols for PUDP Gene

  • FAM16AX
  • HDHD1A
  • HDHD1

Summaries for PUDP Gene

Entrez Gene Summary for PUDP Gene

  • This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

GeneCards Summary for PUDP Gene

PUDP (Pseudouridine 5'-Phosphatase) is a Protein Coding gene. Diseases associated with PUDP include griscelli syndrome, type 1.

UniProtKB/Swiss-Prot for PUDP Gene

  • Dephosphorylates pseudouridine 5-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine.

Gene Wiki entry for PUDP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PUDP Gene

Genomics for PUDP Gene

Genomic Location for PUDP Gene

Chromosome:
X
Start:
7,048,920 bp from pter
End:
7,148,190 bp from pter
Size:
99,271 bases
Orientation:
Minus strand

Genomic View for PUDP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PUDP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PUDP Gene

No data available for Regulatory Elements for PUDP Gene

Proteins for PUDP Gene

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

    Protein Symbol:
    Q08623-HDHD1_HUMAN
    Recommended name:
    Pseudouridine-5-phosphatase
    Protein Accession:
    Q08623
    Secondary Accessions:
    • B2R7X6
    • B4DV93
    • B7Z6Q3
    • E9PAV8
    • F5GWZ2
    • Q53F84
    • Q96EB8

    Protein attributes for PUDP Gene

    Size:
    228 amino acids
    Molecular mass:
    25249 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA58622.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH12494.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD97125.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG35973.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PUDP Gene

    Alternative splice isoforms for PUDP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PUDP Gene

Proteomics data for PUDP Gene at MOPED

Post-translational modifications for PUDP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PUDP Gene

Domains & Families for PUDP Gene

Gene Families for PUDP Gene

Protein Domains for PUDP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PUDP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q08623

UniProtKB/Swiss-Prot:

HDHD1_HUMAN :
  • Belongs to the HAD-like hydrolase superfamily. CbbY/CbbZ/Gph/YieH family.
Family:
  • Belongs to the HAD-like hydrolase superfamily. CbbY/CbbZ/Gph/YieH family.
genes like me logo Genes that share domains with PUDP: view

Function for PUDP Gene

Molecular function for PUDP Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.38 uM for 5-PsiMP {ECO:0000269 PubMed:20722631}; KM=1.5 mM for 3-AMP {ECO:0000269 PubMed:20722631}; KM=5.9 mM for Fructose-6-P {ECO:0000269 PubMed:20722631}; KM=9.4 mM for 5-UMP {ECO:0000269 PubMed:20722631};
UniProtKB/Swiss-Prot CatalyticActivity:
Pseudouridine 5-phosphate + H(2)O = pseudouridine + phosphate.
UniProtKB/Swiss-Prot Function:
Dephosphorylates pseudouridine 5-phosphate, a potential intermediate in rRNA degradation. Pseudouridine is then excreted intact in urine.
UniProtKB/Swiss-Prot Induction:
Inhibited by low concentrations of calcium

Enzyme Numbers (IUBMB) for PUDP Gene

Gene Ontology (GO) - Molecular Function for PUDP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016787 hydrolase activity --
GO:0046872 metal ion binding IEA --
GO:1990738 pseudouridine 5-phosphatase activity IEA --
genes like me logo Genes that share ontologies with PUDP: view

Phenotypes for PUDP Gene

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

miRNA for PUDP Gene

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PUDP Gene

Localization for PUDP Gene

Gene Ontology (GO) - Cellular Components for PUDP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PUDP: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for PUDP Gene

Pathways & Interactions for PUDP Gene

SuperPathways for PUDP Gene

No Data Available

Interacting Proteins for PUDP Gene

Gene Ontology (GO) - Biological Process for PUDP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation --
GO:0008150 biological_process ND --
GO:0008152 metabolic process --
GO:0009117 nucleotide metabolic process IEA --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with PUDP: view

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

Drugs & Compounds for PUDP Gene

(3) Additional Compounds for PUDP Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
pseudouridine
  • 5-(b-D-Ribofuranosyl)uracil
  • 5-(b-delta-Ribofuranosyl)uracil
  • 5-b-D-Ribofuranosyl-Uracil
  • 5-beta-delta-Ribofuranosyl-Uracil
  • 5-Ribosyluracil
1445-07-4
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PUDP: view

Transcripts for PUDP Gene

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

No ASD Table

Relevant External Links for PUDP Gene

GeneLoc Exon Structure for
PUDP
ECgene alternative splicing isoforms for
PUDP

Expression for PUDP Gene

No Expression Related Data Available

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PUDP Gene

Orthologs for PUDP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PUDP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HDHD1 35
  • 77.78 (n)
  • 81.58 (a)
HDHD1A 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HDHD1 35
  • 83.19 (n)
  • 86.28 (a)
HDHD1 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hdhd1a 35
  • 74.92 (n)
  • 71.62 (a)
Hdhd1a 16
Hdhd1a 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hdhd1 35
  • 75.19 (n)
  • 73.54 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 62 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia HDHD1 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves HDHD1 35
  • 70.1 (n)
  • 70.4 (a)
HDHD1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 53 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hdhd1 35
  • 67.6 (n)
  • 73.36 (a)
Str.11029 35
zebrafish
(Danio rerio)
Actinopterygii hdhd1 35
  • 66.2 (n)
  • 69.01 (a)
hdhd1 36
  • 66 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5250 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003372 35
  • 59.09 (n)
  • 55.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gs1l 35
  • 58.18 (n)
  • 53.18 (a)
CG31924 36
  • 43 (a)
OneToMany
CG5556 36
  • 21 (a)
OneToMany
CG5561 36
  • 22 (a)
OneToMany
CG5565 36
  • 40 (a)
OneToMany
Gs1l 36
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R151.10 36
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 33 (a)
OneToOne
-- 38
thale cress
(Arabidopsis thaliana)
eudicotyledons GPP1 35
  • 53.54 (n)
  • 51.13 (a)
rice
(Oryza sativa)
Liliopsida Os08g0243600 35
  • 55.01 (n)
  • 50 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6535 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToOne
Species with no ortholog for PUDP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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)

Evolution for PUDP Gene

ENSEMBL:
Gene Tree for PUDP (if available)
TreeFam:
Gene Tree for PUDP (if available)

Paralogs for PUDP Gene

Pseudogenes.org Pseudogenes for PUDP Gene

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

No data available for Paralogs for PUDP Gene

Variants for PUDP Gene

Sequence variations from dbSNP and Humsavar for PUDP Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs6982 -- 7,049,134(-) CAAAC(C/T)GTAGG utr-variant-3-prime
rs10458 -- 7,049,970(-) ATACA(C/T)GTGTG utr-variant-3-prime
rs868756 -- 7,057,741(-) TCTGT(C/G)TAATC intron-variant, missense, reference
rs869505 -- 7,129,901(-) CCATT(C/G)CCCTT intron-variant
rs878561 -- 7,110,263(+) TAAGG(C/T)GGAGA intron-variant

Variation tolerance for PUDP Gene

Residual Variation Intolerance Score: 62.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.15; 84.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PUDP Gene

HapMap Linkage Disequilibrium report
PUDP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PUDP Gene

Disorders for PUDP Gene

MalaCards: The human disease database

(1) MalaCards diseases for PUDP Gene - From: OMIM

Disorder Aliases PubMed IDs
griscelli syndrome, type 1
  • griscelli syndrome type 1
- elite association
Search PUDP in MalaCards View complete list of genes associated with diseases

Relevant External Links for PUDP

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

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

Publications for PUDP Gene

  1. HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase. (PMID: 20722631) Preumont A. … Van Schaftingen E. (Biochem. J. 2010) 2 67
  2. Cloning and sequencing of ribosomal protein L27a and a gene similar to human GS1 in Drosophila. (PMID: 9055824) Soehnge H. … Stern M. (Gene 1997) 23 67
  3. Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation. (PMID: 1284467) Yen P.H. … Shapiro L. (Hum. Mol. Genet. 1992) 2 67
  4. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. (PMID: 1734713) Salido E.C. … Shapiro L.J. (Am. J. Hum. Genet. 1992) 2 67
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67

Products for PUDP Gene

Sources for PUDP Gene

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