HDHD1A

Last updated
PUDP
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PUDP , DXF68S1E, FAM16AX, GS1, HDHD1A, HDHD1, pseudouridine 5'-phosphatase
External IDs OMIM: 306480 MGI: 1914615 HomoloGene: 8093 GeneCards: PUDP
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 Mb Chr 18: 50.7 – 50.73 Mb
PubMed search [3] [4]
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]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000130021 - Ensembl, May 2017
  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.
  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