HDHD1A

Protein-coding gene in the species Homo sapiens
PUDP
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3L5K

Identifiers
AliasesPUDP, DXF68S1E, FAM16AX, GS1, HDHD1A, HDHD1, pseudouridine 5'-phosphatase
External IDsOMIM: 306480; MGI: 1914615; HomoloGene: 8093; GeneCards: PUDP; OMA:PUDP - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for PUDP
Genomic location for PUDP
BandXp22.31Start6,667,865 bp[1]
End7,148,158 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for PUDP
Genomic location for PUDP
Band18|18 D1Start50,696,948 bp[2]
End50,734,491 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000130021 – Ensembl, May 2017
  2. ^ a b c 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.


  • v
  • t
  • e