Pseudouridine-5'-phosphatase

PUDP
Identifiers
Aliases	PUDP, DXF68S1E, FAM16AX, GS1, HDHD1A, HDHD1, pseudouridine 5'-phosphatase
External IDs	OMIM: 306480; MGI: 1914615; GeneCards: PUDP
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3L5K
Enzyme activity
Gene location (Human)
Chr.	X chromosome (human)
End	7,148,158 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	50,734,491 bp
RNA expression pattern
	Top expressed in
	Skeletal muscle tissue of rectus abdominis; ; gonad; ; mucosa of sigmoid colon; ; biceps brachii; ; secondary oocyte; ; deltoid muscle; ; Skeletal muscle tissue of biceps brachii; ; tibialis anterior muscle; ; epithelium of bronchus; ; bronchial epithelial cell;
	Top expressed in
	seminiferous tubule; ; spermatid; ; spermatocyte; ; zygote; ; secondary oocyte; ; primary oocyte; ; islet of Langerhans;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	pseudouridine 5'-phosphatase activity; hydrolase activity; metal ion binding; phosphatase activity; molecular function; magnesium ion binding;
Cellular component	cytosol; cytoplasm;
Biological process	pyrimidine nucleoside salvage; metabolism; nucleotide metabolic process; dephosphorylation; biological process;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	8226
	67365
	ENSG00000130021
	ENSMUSG00000048875
	Q08623
	Q9D5U5
	NM_012080; NM_001135565; NM_001178135; NM_001178136
	NM_026108
	NP_001129037; NP_001171606; NP_001171607; NP_036212
	NP_080384
	Wikidata
View/Edit Human	View/Edit Mouse

Pseudouridine-5'-phosphatase is an enzyme that in humans is encoded by the PUDP gene (previously HDHD1A). This enzyme acts to remove the phosphate from pseudouridine 5'-phosphate, producing pseudouridine which is excreted intact in urine. In addition to pseudouridine 5'-phosphate, it can also accommodate other phopshorylated metabolites but with a lower affinity.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000130021 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000048875 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ (February 1992). "The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes". American Journal of Human Genetics. 50 (2): 303–16. PMC 1682460. PMID 1734713.
↑ Yen PH, Ellison J, Salido EC, Mohandas T, Shapiro L (April 1992). "Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation". Human Molecular Genetics. 1 (1): 47–52. doi:10.1093/hmg/1.1.47. PMID 1284467.
↑ "Entrez Gene: HDHD1A haloacid dehalogenase-like hydrolase domain containing 1A".
↑ "Q08623 · HDHD1_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-08-27.
↑ Preumont A, Rzem R, Vertommen D, Van Schaftingen E (October 2010). "HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase" (PDF). The Biochemical Journal. 431 (2): 237–44. doi:10.1042/bj20100174. PMID 20722631.
↑ Defenouillère Q, Verraes A, Laussel C, Friedrich A, Schacherer J, Léon S (September 2019). "The induction of HAD-like phosphatases by multiple signaling pathways confers resistance to the metabolic inhibitor 2-deoxyglucose" (PDF). Science Signaling. 12 (597) eaaw8000. doi:10.1126/scisignal.aaw8000. PMID 31481524. S2CID 201829818.

Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Suzuki Y, Tsunoda T, Sese J, Taira H, Mizushima-Sugano J, Hata H, et al. (May 2001). "Identification and characterization of the potential promoter regions of 1031 kinds of human genes". Genome Research. 11 (5): 677–84. doi:10.1101/gr.gr-1640r. PMC 311086. PMID 11337467.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000130021 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000048875 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1734713-5] Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ (February 1992). "The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes". American Journal of Human Genetics. 50 (2): 303–16. PMC 1682460. PMID 1734713.

[pmid1284467-6] Yen PH, Ellison J, Salido EC, Mohandas T, Shapiro L (April 1992). "Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation". Human Molecular Genetics. 1 (1): 47–52. doi:10.1093/hmg/1.1.47. PMID 1284467.

[entrez-7] "Entrez Gene: HDHD1A haloacid dehalogenase-like hydrolase domain containing 1A".

[8] "Q08623 · HDHD1_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-08-27.

[9] Preumont A, Rzem R, Vertommen D, Van Schaftingen E (October 2010). "HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase" (PDF). The Biochemical Journal. 431 (2): 237–44. doi:10.1042/bj20100174. PMID 20722631.

[10] Defenouillère Q, Verraes A, Laussel C, Friedrich A, Schacherer J, Léon S (September 2019). "The induction of HAD-like phosphatases by multiple signaling pathways confers resistance to the metabolic inhibitor 2-deoxyglucose" (PDF). Science Signaling. 12 (597) eaaw8000. doi:10.1126/scisignal.aaw8000. PMID 31481524. S2CID 201829818.

Pseudouridine-5'-phosphatase

References

Further reading