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; OMA:PUDP - orthologs
Gene location (Human) Chr. X chromosome (human) [1] Band Xp22.31 Start 6,667,865 bp [1] End 7,148,158 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 D1 Start 50,696,948 bp [2] End 50,734,491 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 8226 67365 Ensembl ENSG00000130021 ENSMUSG00000048875 UniProt Q08623 Q9D5U5 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]}

References

1. GRCh38: Ensembl release 89: ENSG00000130021 – Ensembl, May 2017
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.
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

• 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.