HDHD1A

Halokiselinski dehalogenazoliki hidrolazni domen-sadržavajući protein 1A je enzim koji je kod ljudi kodiran genom HDHD1A.^[5][6][7] Kodira pseudouridin-5'-fosfatazu, ali može primiti i druge fosforilirane metabolite s nižim afinitetom.^[8][9]

HDHD1A
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 3L5K
Identifikatori
Aliasi	PUDP
Vanjski ID-jevi	OMIM: 306480 MGI: 1914615 HomoloGene: 8093 GeneCards: PUDP
Lokacija gena (čovjek) Hrom. Hromosom X[1] Bend Xp22.31 Početak 6,667,865 bp[1] Kraj 7,148,158 bp[1]
Lokacija gena (miš) Hrom. Hromosom 18 (miš)[2] Bend 18|18 D1 Početak 50,696,948 bp[2] Kraj 50,734,491 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • pseudouridine 5'-phosphatase activity • hydrolase activity • vezivanje iona metala • GO:0098519, GO:0098518 phosphatase activity • molekularna funkcija • magnesium ion binding Ćelijska komponenta • citosol • citoplazma Biološki proces • pyrimidine nucleoside salvage • metabolizam • nucleotide metabolic process • GO:0098501, GO:0098502, GO:0006286 Defosforilacija • GO:0022610 biološki proces Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	8226	67365
Ensembl	ENSG00000130021	ENSMUSG00000048875
UniProt	Q08623	Q9D5U5
RefSeq (mRNK)	NM_012080 NM_001135565 NM_001178135 NM_001178136	NM_026108
RefSeq (bjelančevina)	NP_001129037 NP_001171606 NP_001171607 NP_036212	NP_080384
Lokacija (UCSC)	Chr X: 6.67 – 7.15 Mb	Chr 18: 50.7 – 50.73 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Funkcije

Molekulske

• pseudouridin 5'-fosfatazna aktivnost • aktivnost hidrolaze • vezivanje metalnih jona • aktivnost fosfataze • molekulska funkcija • vezivanje iona magnezija

Ćelijska komponenta

• citosol • citoplazma

Biološki proces:

• spašavanje pirimidin nukleozida • metabolizam • metabolički proces nukleotida • defosforilacija

Reference

1. GRCh38: Ensembl release 89: ENSG00000130021 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000048875 - Ensembl, maj 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 (februar 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 (oktobar 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 (septembar 2019). "The induction of HAD-like phosphatases by multiple signaling pathways confers resistance to the metabolic inhibitor 2-deoxyglucose". Science Signaling. 12 (597): eaaw8000. doi:10.1126/scisignal.aaw8000. PMID 31481524.

Dopunska literatura

• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (januar 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. (maj 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 (oktobar 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 (januar 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.