HDHD1A

PUDP
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3L5K
Identifiers
Aliases	PUDP, DXF68S1E, FAM16AX, GS1, HDHD1A, HDHD1, pseudouridine 5'-phosphatase
External IDs	OMIM: 306480 MGI: 1914615 HomoloGene: 8093 GeneCards: PUDP
Gene location (Human)
Chr.	X chromosome (human)[1]
End	7,148,158 bp[1]
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)[2]
End	50,734,491 bp[2]
RNA expression pattern
	Top expressed in
	biceps brachii; ; secondary oocyte; ; deltoid muscle; ; tibialis anterior muscle; ; bronchial epithelial cell; ; quadriceps femoris muscle; ; vastus lateralis muscle; ; placenta; ; monocyte; ; gastrocnemius muscle;
	Top expressed in
	seminiferous tubule; ; spermatid; ; spermatocyte; ; secondary 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
	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

Haloacid dehalogenase-like hydrolase domain-containing protein 1A is an enzyme that in humans is encoded by the HDHD1A gene.[5][6][7] It encodes a pseudouridine-5'-phosphatase but can also accommodate other phopshorylated metabolites with a lower affinity.[8][9]

References

GRCh38: Ensembl release 89: ENSG00000130021 - Ensembl, May 2017
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".
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". 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.

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

[refGRCm38Ensembl-2] 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] 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". The Biochemical Journal. 431 (2): 237–44. doi:10.1042/bj20100174. PMID 20722631.

[9] 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.

HDHD1A

References

Further reading