HDHD1A

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
Kraj	7,148,158 bp
Lokacija gena (miš)
Hrom.	Hromosom 18 (miš)
Kraj	50,734,491 bp
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
	8226
	67365
	ENSG00000130021
	ENSMUSG00000048875
	Q08623
	Q9D5U5
	NM_012080; NM_001135565; NM_001178135; NM_001178136
	NM_026108
	NP_001129037; NP_001171606; NP_001171607; NP_036212
	NP_080384
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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]

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 2 3 GRCh38: Ensembl release 89: ENSG00000130021 - Ensembl, maj 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000048875 - Ensembl, maj 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
↑ "Entrez Gene: HDHD1A haloacid dehalogenase-like hydrolase domain containing 1A".
↑ 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.
↑ 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.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000130021 - Ensembl, maj 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid1734713-5] 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.

[pmid1284467-6] 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.

[entrez-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.

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