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[1]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1038/ng1097-185; PubMed=9326939 [NCBI, ExPASy, EBI, Israel, Japan]
Mihalik S.J.,
Morrell J.C.,
Kim D.,
Sachsteder K.A.,
Watkins P.A.,
Gould S.J.;
"Identification of PAHX, a Refsum disease gene.";
Nat. Genet. 17:185-189(1997).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
STRAIN=BALB/c;
TISSUE=Kidney;
DOI=10.1006/bbrc.1996.1805; PubMed=8954131 [NCBI, ExPASy, EBI, Israel, Japan]
Iwano M.,
Ueno M.,
Miyazaki M.,
Harada T.,
Nagai Y.,
Hirano M.,
Dohi Y.,
Akai Y.,
Kurioka H.,
Dohi K.;
"Molecular cloning and expression of a novel peptide (LN1) gene: reduced expression in the renal cortex of lupus nephritis in MRL/lpr mouse.";
Biochem. Biophys. Res. Commun. 229:355-360(1996).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
STRAIN=C57BL/6J;
TISSUE=Mammary gland;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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TISSUE SPECIFICITY, AND INTERACTION WITH PHYHIP.
DOI=10.1016/S0169-328X(99)00304-6; PubMed=10686344 [NCBI, ExPASy, EBI, Israel, Japan]
Lee Z.H.,
Kim H.-H.,
Ahn K.Y.,
Seo K.H.,
Kim J.K.,
Bae C.S.,
Kim K.K.;
"Identification of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase.";
Brain Res. Mol. Brain Res. 75:237-247(2000).
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- FUNCTION: Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.
- CATALYTIC ACTIVITY: Phytanoyl-CoA + 2-oxoglutarate + O2 = 2-hydroxyphytanoyl-CoA + succinate + CO2.
- COFACTOR: Iron.
- COFACTOR: Ascorbate.
- PATHWAY: Lipid metabolism; fatty acid metabolism.
- SUBUNIT: Interacts specifically with the immunophilin FKBP52 and PHYHIP.
- SUBCELLULAR LOCATION: Peroxisome.
- TISSUE SPECIFICITY: Ubiquitously expressed in all tissues with significant levels detected in the embryonic and neonatal heart and liver. In the adult, significant levels are detected in the liver, kidney, heart, gut, brain and aorta.
- DISEASE: Defects in Phyh are the cause of lupus nephritis, a severe autoimmune disease. Phyh could be involved in a reaction against the progression of the disease, because its expression is low in the early stage of the disease in the renal cortex of MRL/lpr mice.
- SIMILARITY: Belongs to the PhyH family.
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Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
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| Length: 338 AA [This is the length of the unprocessed precursor] |
Molecular weight: 38607 Da [This is the MW of the unprocessed precursor] |
CRC64: 9363F4322D59360E [This is a checksum on the sequence] |
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10 20 30 40 50 60
MNLTRAGARL QVLLGHLGRP SAPTIVAQPV SGLASPASFQ PEQFQYTLDN NVLTLEQRKF
70 80 90 100 110 120
YEENGFLVIK NLVSDDDIQR FRAEFERICR EEVKPPGIVI MRDVALAKQD YMPSDRMVSK
130 140 150 160 170 180
IQDFQEDEEL FRYCLLPEIL KYVECFTGPN IMALHGMLIN KPPDVGKKTS RHPLHQDLHY
190 200 210 220 230 240
FPFRPSNLIV CAWTAMEHID RNNGCLVVLP GTHKGTLKPH DYPKWEGGVN KMYHGIQDYD
250 260 270 280 290 300
PNSPRVHLVM EKGDTVFFHP LLIHGSGRNK TQGFRKAISC HFGSSDCQCI DVSGTSQENI
310 320 330
AREVVEMAEK KYGFQGVMDF KDTWIFRSRL VKGERINI
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O35386 in FASTA format |
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