[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT PRO-66.
TISSUE=Placenta;
DOI=10.1016/0378-1119(89)90299-0; PubMed=2479590 [NCBI, ExPASy, EBI, Israel, Japan]
Tomatsu S.,
Kobayashi Y.,
Fukumaki Y.,
Yubisui T.,
Orii T.,
Sakaki Y.;
"The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene.";
Gene 80:353-361(1989).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
Voice M.W.;
Submitted (NOV-1996) to the EMBL/GenBank/DDBJ databases.
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[3]
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NUCLEOTIDE SEQUENCE [MRNA].
Yoon B.,
Chung H.,
Ko E.,
Lee D.;
Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [MRNA], VARIANT PRO-66, AND VARIANTS HM GLN-58; PRO-73 AND TYR-204.
TISSUE=Leukocyte;
Lan F.;
Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases.
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kalnine N.,
Chen X.,
Rolfs A.,
Halleck A.,
Hines L.,
Eisenstein S.,
Koundinya M.,
Raphael J.,
Moreira D.,
Kelley T.,
LaBaer J.,
Lin Y.,
Phelan M.,
Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1186/gb-2004-5-10-r84; PubMed=15461802 [NCBI, ExPASy, EBI, Israel, Japan]
Collins J.E.,
Wright C.L.,
Edwards C.A.,
Davis M.P.,
Grinham J.A.,
Cole C.G.,
Goward M.E.,
Aguado B.,
Mallya M.,
Mokrab Y.,
Huckle E.J.,
Beare D.M.,
Dunham I.;
"A genome annotation-driven approach to cloning the human ORFeome.";
Genome Biol. 5:RESEARCH84.1-RESEARCH84.11(2004).
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[7]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT SER-117.
Rieder M.J.,
Livingston R.J.,
Daniels M.R.,
Chung M.-W.,
Miyamoto K.E.,
Nguyen C.P.,
Nguyen D.A.,
Poel C.L.,
Robertson P.D.,
Schackwitz W.S.,
Sherwood J.K.,
Witrak L.A.,
Nickerson D.A.;
"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
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[8]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/990031; PubMed=10591208 [NCBI, ExPASy, EBI, Israel, Japan]
Dunham I.,
Hunt A.R.,
Collins J.E.,
Bruskiewich R.,
Beare D.M.,
Clamp M.,
Smink L.J.,
Ainscough R.,
Almeida J.P.,
Babbage A.K.,
Bagguley C.,
Bailey J.,
Barlow K.F.,
Bates K.N.,
Beasley O.P.,
Bird C.P.,
Blakey S.E.,
Bridgeman A.M.,
Buck D., ![]()
Burgess J.,
Burrill W.D.,
Burton J.,
Carder C.,
Carter N.P.,
Chen Y.,
Clark G.,
Clegg S.M.,
Cobley V.E.,
Cole C.G.,
Collier R.E.,
Connor R.,
Conroy D.,
Corby N.R.,
Coville G.J.,
Cox A.V.,
Davis J.,
Dawson E.,
Dhami P.D.,
Dockree C.,
Dodsworth S.J.,
Durbin R.M.,
Ellington A.G.,
Evans K.L.,
Fey J.M.,
Fleming K.,
French L.,
Garner A.A.,
Gilbert J.G.R.,
Goward M.E.,
Grafham D.V.,
Griffiths M.N.D.,
Hall C.,
Hall R.E.,
Hall-Tamlyn G.,
Heathcott R.W.,
Ho S.,
Holmes S.,
Hunt S.E.,
Jones M.C.,
Kershaw J.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.F.,
Leversha M.A.,
Lloyd C.,
Lloyd D.M.,
Martyn I.D.,
Mashreghi-Mohammadi M.,
Matthews L.H.,
Mccann O.T.,
Mcclay J.,
Mclaren S.,
McMurray A.A.,
Milne S.A.,
Mortimore B.J.,
Odell C.N.,
Pavitt R.,
Pearce A.V.,
Pearson D.,
Phillimore B.J.C.T.,
Phillips S.H.,
Plumb R.W.,
Ramsay H.,
Ramsey Y.,
Rogers L.,
Ross M.T.,
Scott C.E.,
Sehra H.K.,
Skuce C.D.,
Smalley S.,
Smith M.L.,
Soderlund C.,
Spragon L.,
Steward C.A.,
Sulston J.E.,
Swann R.M.,
Vaudin M.,
Wall M.,
Wallis J.M.,
Whiteley M.N.,
Willey D.L.,
Williams L.,
Williams S.A.,
Williamson H.,
Wilmer T.E.,
Wilming L.,
Wright C.L.,
Hubbard T.,
Bentley D.R.,
Beck S.,
Rogers J.,
Shimizu N.,
Minoshima S.,
Kawasaki K.,
Sasaki T.,
Asakawa S.,
Kudoh J.,
Shintani A.,
Shibuya K.,
Yoshizaki Y.,
Aoki N.,
Mitsuyama S.,
Roe B.A.,
Chen F.,
Chu L.,
Crabtree J.,
Deschamps S.,
Do A.,
Do T.,
Dorman A.,
Fang F.,
Fu Y.,
Hu P.,
Hua A.,
Kenton S.,
Lai H.,
Lao H.I.,
Lewis J.,
Lewis S.,
Lin S.-P.,
Loh P.,
Malaj E.,
Nguyen T.,
Pan H.,
Phan S.,
Qi S.,
Qian Y.,
Ray L.,
Ren Q.,
Shaull S.,
Sloan D.,
Song L.,
Wang Q.,
Wang Y.,
Wang Z.,
White J.,
Willingham D.,
Wu H.,
Yao Z.,
Zhan M.,
Zhang G.,
Chissoe S.,
Murray J.,
Miller N.,
Minx P.,
Fulton R.,
Johnson D.,
Bemis G.,
Bentley D.,
Bradshaw H.,
Bourne S.,
Cordes M.,
Du Z.,
Fulton L.,
Goela D.,
Graves T.,
Hawkins J.,
Hinds K.,
Kemp K.,
Latreille P.,
Layman D.,
Ozersky P.,
Rohlfing T.,
Scheet P.,
Walker C.,
Wamsley A.,
Wohldmann P.,
Pepin K.,
Nelson J.,
Korf I.,
Bedell J.A.,
Hillier L.W.,
Mardis E.,
Waterston R.,
Wilson R.,
Emanuel B.S.,
Shaikh T.,
Kurahashi H.,
Saitta S.,
Budarf M.L.,
McDermid H.E.,
Johnson A.,
Wong A.C.C.,
Morrow B.E.,
Edelmann L.,
Kim U.J.,
Shizuya H.,
Simon M.I.,
Dumanski J.P.,
Peyrard M.,
Kedra D.,
Seroussi E.,
Fransson I.,
Tapia I.,
Bruder C.E.,
O'Brien K.P.,
Wilkinson P.,
Bodenteich A.,
Hartman K.,
Hu X.,
Khan A.S.,
Lane L.,
Tilahun Y.,
Wright H.;
"The DNA sequence of human chromosome 22.";
Nature 402:489-495(1999).
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[9]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Placenta;
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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[10]
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NUCLEOTIDE SEQUENCE [MRNA] OF 8-301, AND VARIANT PRO-66.
TISSUE=Liver;
PubMed=3035541 [NCBI, ExPASy, EBI, Israel, Japan]
Yubisui T.,
Naitoh Y.,
Zenno S.,
Tamura M.,
Takeshita M.,
Sakaki Y.;
"Molecular cloning of cDNAs of human liver and placenta NADH-cytochrome b5 reductase.";
Proc. Natl. Acad. Sci. U.S.A. 84:3609-3613(1987).
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[11]
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NUCLEOTIDE SEQUENCE [MRNA] OF 101-250.
Diss J.K.J.,
Fraser S.P.,
Coombes R.C.,
Djamgoz M.B.A.;
"Upregulation of voltage-gated Na+ channel expression and metastatic potential in human breast cancer: correlative studies on cell lines and biopsy tissues.";
Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases.
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[12]
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PROTEIN SEQUENCE OF 2-25, AND MYRISTOYLATION AT GLY-2.
PubMed=2498303 [NCBI, ExPASy, EBI, Israel, Japan]
Murakami K.,
Yubisui T.,
Takeshita M.,
Miyata T.;
"The NH2-terminal structures of human and rat liver microsomal NADH-cytochrome b5 reductases.";
J. Biochem. 105:312-317(1989).
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[13]
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PROTEIN SEQUENCE OF 27-301.
TISSUE=Erythrocyte;
PubMed=3700359 [NCBI, ExPASy, EBI, Israel, Japan]
Yubisui T.,
Miyata T.,
Iwanaga S.,
Tamura M.,
Takeshita M.;
"Complete amino acid sequence of NADH-cytochrome b5 reductase purified from human erythrocytes.";
J. Biochem. 99:407-422(1986).
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[14]
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PROTEIN SEQUENCE OF 27-301.
TISSUE=Erythrocyte;
PubMed=6389526 [NCBI, ExPASy, EBI, Israel, Japan]
Yubisui T.,
Miyata T.,
Iwanaga S.,
Tamura M.,
Yoshida S.,
Takeshita M.,
Nakajima H.;
"Amino acid sequence of NADH-cytochrome b5 reductase of human erythrocytes.";
J. Biochem. 96:579-582(1984).
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[15]
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ALTERNATIVE PROMOTER USAGE.
PubMed=9639531 [NCBI, ExPASy, EBI, Israel, Japan]
Bulbarelli A.,
Valentini A.,
De Silvestris M.,
Cappellini M.D.,
Borgese N.;
"An erythroid-specific transcript generates the soluble form of NADH-cytochrome b5 reductase in humans.";
Blood 92:310-319(1998).
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[16]
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MUTAGENESIS OF CYSTEINE RESIDUES.
PubMed=2019583 [NCBI, ExPASy, EBI, Israel, Japan]
Shirabe K.,
Yubisui T.,
Nishino T.,
Takeshita M.;
"Role of cysteine residues in human NADH-cytochrome b5 reductase studied by site-directed mutagenesis. Cys-273 and Cys-283 are located close to the NADH-binding site but are not catalytically essential.";
J. Biol. Chem. 266:7531-7536(1991).
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[17]
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X-RAY CRYSTALLOGRAPHY (1.75 ANGSTROMS) OF 31-301.
DOI=10.1107/S0907444904020645; PubMed=15502298 [NCBI, ExPASy, EBI, Israel, Japan]
Bando S.,
Takano T.,
Yubisui T.,
Shirabe K.,
Takeshita M.,
Nakagawa A.;
"Structure of human erythrocyte NADH-cytochrome b5 reductase.";
Acta Crystallogr. D 60:1929-1934(2004).
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[18]
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VARIANT HM PRO-128.
PubMed=1898726 [NCBI, ExPASy, EBI, Israel, Japan]
Yubisui T.,
Shirabe K.,
Takeshita M.,
Kobayashi Y.,
Fukumaki Y.,
Sakaki Y.,
Takano T.;
"Structural role of serine 127 in the NADH-binding site of human NADH-cytochrome b5 reductase.";
J. Biol. Chem. 266:66-70(1991).
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[19]
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VARIANTS HM GLN-58 AND PRO-149.
PubMed=1707593 [NCBI, ExPASy, EBI, Israel, Japan]
Katsube T.,
Sakamoto N.,
Kobayashi Y.,
Seki R.,
Hirano M.,
Tanishima K.,
Tomoda A.,
Takazakura E.,
Yubisui T.,
Takeshita M.,
Sakaki Y.,
Fukumaki Y.;
"Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency.";
Am. J. Hum. Genet. 48:799-808(1991).
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[20]
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VARIANT HM MET-106.
PubMed=1400360 [NCBI, ExPASy, EBI, Israel, Japan]
Shirabe K.,
Yubisui T.,
Borgese N.,
Tang C.-Y.,
Hultquist D.E.,
Takeshita M.;
"Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type).";
J. Biol. Chem. 267:20416-20421(1992).
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[21]
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VARIANT HM PHE-299 DEL.
PubMed=8119939 [NCBI, ExPASy, EBI, Israel, Japan]
Shirabe K.,
Fujimoto Y.,
Yubisui T.,
Takeshita M.;
"An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II (generalized type). A functional implication for the role of the COOH-terminal region of the enzyme.";
J. Biol. Chem. 269:5952-5957(1994).
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[22]
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VARIANTS HM ARG-204 AND MET-273 DEL.
PubMed=7718898 [NCBI, ExPASy, EBI, Israel, Japan]
Vieira L.M.,
Kaplan J.-C.,
Kahn A.,
Leroux A.;
"Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.";
Blood 85:2254-2262(1995).
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[23]
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VARIANT SER-117.
DOI=10.1007/s004390050347; PubMed=9048929 [NCBI, ExPASy, EBI, Israel, Japan]
Jenkins M.M.,
Prchal J.T.;
"A high-frequency polymorphism of NADH-cytochrome b5 reductase in African-Americans.";
Hum. Genet. 99:248-250(1997).
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[24]
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VARIANT HM PRO-73.
DOI=10.1046/j.1365-2141.1998.00782.x; PubMed=9695975 [NCBI, ExPASy, EBI, Israel, Japan]
Wu Y.-S.,
Huang C.-H.,
Wan Y.,
Huang Q.-J.,
Zhu Z.-Y.;
"Identification of a novel point mutation (Leu72-to-Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I.";
Br. J. Haematol. 102:575-577(1998).
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[25]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 76-83 AND 171-187, AND VARIANT HM VAL-179.
DOI=10.1046/j.1365-2141.1998.01123.x; PubMed=9886302 [NCBI, ExPASy, EBI, Israel, Japan]
Higasa K.,
Manabe J.I.,
Yubisui T.,
Sumimoto H.,
Pung-Amritt P.,
Tanphaichitr V.S.,
Fukumaki Y.;
"Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.";
Br. J. Haematol. 103:922-930(1998).
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[26]
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VARIANT HM TYR-204.
PubMed=10807796 [NCBI, ExPASy, EBI, Israel, Japan]
Wang Y.,
Wu Y.-S.,
Zheng P.-Z.,
Yang W.-X.,
Fang G.-A.,
Tang Y.-C.,
Xie F.,
Lan F.-H.,
Zhu Z.-Y.;
"A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.";
Blood 95:3250-3255(2000).
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[27]
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VARIANT HM GLN-58.
PubMed=15622768 [NCBI, ExPASy, EBI, Israel, Japan]
Huang C.-H.,
Xie Y.,
Wang Y.,
Wu Y.-S.;
"Arginine-glutamine replacement at residue 57 of NADH-cytochrome b5 reductase in Chinese hereditary methemoglobinemia.";
Zhonghua Xue Ye Xue Za Zhi 18:200-203(1997).
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[28]
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VARIANTS HM GLU-256 DEL AND ASP-292.
DOI=10.1182/blood-2002-05-1405; PubMed=12393396 [NCBI, ExPASy, EBI, Israel, Japan]
Percy M.J.,
Gillespie M.J.S.,
Savage G.,
Hughes A.E.,
McMullin M.F.,
Lappin T.R.J.;
"Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.";
Blood 100:3447-3449(2002).
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[29]
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CHARACTERIZATION OF VARIANTS HM GLU-256 DEL AND ASP-292.
DOI=10.1111/j.1365-2141.2005.05526.x; PubMed=15953014 [NCBI, ExPASy, EBI, Israel, Japan]
Percy M.J.,
Crowley L.J.,
Davis C.A.,
McMullin M.F.,
Savage G.,
Hughes J.,
McMahon C.,
Quinn R.J.M.,
Smith O.,
Barber M.J.,
Lappin T.R.J.;
"Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase.";
Br. J. Haematol. 129:847-853(2005).
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