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HDHD1A

From Wikipedia, the free encyclopedia

PUDP
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPUDP, DXF68S1E, FAM16AX, GS1, HDHD1A, HDHD1, pseudouridine 5'-phosphatase
External IDsOMIM: 306480; MGI: 1914615; HomoloGene: 8093; GeneCards: PUDP; OMA:PUDP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012080
NM_001135565
NM_001178135
NM_001178136

NM_026108

RefSeq (protein)

NP_001129037
NP_001171606
NP_001171607
NP_036212

NP_080384

Location (UCSC)Chr X: 6.67 – 7.15 MbChr 18: 50.7 – 50.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000130021Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000048875Ensembl, 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.
  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.
  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.
  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" (PDF). 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.

Further reading

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