LOCUS NP_000782 187 aa linear PRI 22-OCT-2008
DEFINITION dihydrofolate reductase [Homo sapiens].
ACCESSION NP_000782
VERSION NP_000782.1 GI:4503323
DBSOURCE REFSEQ: accession NM_000791.3
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 187)
AUTHORS Hosgood,H.D. III, Menashe,I., Shen,M., Yeager,M., Yuenger,J.,
Rajaraman,P., He,X., Chatterjee,N., Caporaso,N.E., Zhu,Y.,
Chanock,S.J., Zheng,T. and Lan,Q.
TITLE Pathway-based evaluation of 380 candidate genes and lung cancer
susceptibility suggests the importance of the cell cycle pathway
JOURNAL Carcinogenesis 29 (10), 1938-1943 (2008)
PUBMED 18676680
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (residues 1 to 187)
AUTHORS Summers,C.M., Cucchiara,A.J., Nackos,E., Hammons,A.L., Mohr,E.,
Whitehead,A.S. and Von Feldt,J.M.
TITLE Functional Polymorphisms of Folate-Metabolizing Enzymes in Relation
to Homocysteine Concentrations in Systemic Lupus Erythematosus
JOURNAL J. Rheumatol. (2008) In press
PUBMED 18785313
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 3 (residues 1 to 187)
AUTHORS Eroglu,A., Egin,Y., Cam,R. and Akar,N.
TITLE The 19-bp deletion of dihydrofolate reductase (DHFR),
methylenetetrahydrofolate reductase (MTHFR) C677T, Factor V Leiden,
prothrombin G20210A polymorphisms in cancer patients with and
without thrombosis
JOURNAL Ann. Hematol. (2008) In press
PUBMED 18682947
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 4 (residues 1 to 187)
AUTHORS Velez,D.R., Fortunato,S.J., Thorsen,P., Lombardi,S.J.,
Williams,S.M. and Menon,R.
TITLE Preterm birth in Caucasians is associated with coagulation and
inflammation pathway gene variants
JOURNAL PLoS ONE 3 (9), E3283 (2008)
PUBMED 18818748
REMARK GeneRIF: Observational study of gene-disease association and
gene-gene interaction. (HuGE Navigator)
Publication Status: Online-Only
REFERENCE 5 (residues 1 to 187)
AUTHORS Semmler,A., Linnebank,M., Krex,D., Gotz,A., Moskau,S., Ziegler,A.
and Simon,M.
TITLE Polymorphisms of homocysteine metabolism are associated with
intracranial aneurysms
JOURNAL Cerebrovasc. Dis. 26 (4), 425-429 (2008)
PUBMED 18799873
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (residues 1 to 187)
AUTHORS Stockman,B.J., Nirmala,N.R., Wagner,G., Delcamp,T.J., DeYarman,M.T.
and Freisheim,J.H.
TITLE Sequence-specific 1H and 15N resonance assignments for human
dihydrofolate reductase in solution
JOURNAL Biochemistry 31 (1), 218-229 (1992)
PUBMED 1731871
REFERENCE 7 (residues 1 to 187)
AUTHORS Beltzer,J.P. and Spiess,M.
TITLE In vitro binding of the asialoglycoprotein receptor to the beta
adaptin of plasma membrane coated vesicles
JOURNAL EMBO J. 10 (12), 3735-3742 (1991)
PUBMED 1935897
REFERENCE 8 (residues 1 to 187)
AUTHORS Davies,J.F. II, Delcamp,T.J., Prendergast,N.J., Ashford,V.A.,
Freisheim,J.H. and Kraut,J.
TITLE Crystal structures of recombinant human dihydrofolate reductase
complexed with folate and 5-deazafolate
JOURNAL Biochemistry 29 (40), 9467-9479 (1990)
PUBMED 2248959
REFERENCE 9 (residues 1 to 187)
AUTHORS Will,C.L. and Dolnick,B.J.
TITLE 5-Fluorouracil inhibits dihydrofolate reductase precursor mRNA
processing and/or nuclear mRNA stability in methotrexate-resistant
KB cells
JOURNAL J. Biol. Chem. 264 (35), 21413-21421 (1989)
PUBMED 2592384
REFERENCE 10 (residues 1 to 187)
AUTHORS Masters,J.N. and Attardi,G.
TITLE Discrete human dihydrofolate reductase gene transcripts present in
polysomal RNA map with their 5' ends several hundred nucleotides
upstream of the main mRNA start site
JOURNAL Mol. Cell. Biol. 5 (3), 493-500 (1985)
PUBMED 2859520
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from CB988944.1, AC008434.5,
BC003584.1 and AA489055.1.
Summary: Dihydrofolate reductase converts dihydrofolate into
tetrahydrofolate, a methyl group shuttle required for the de novo
synthesis of purines, thymidylic acid, and certain amino acids.
While the functional dihydrofolate reductase gene has been mapped
to chromosome 5, multiple intronless processed pseudogenes or
dihydrofolate reductase-like genes have been identified on separate
chromosomes. Dihydrofolate reductase deficiency has been linked to
megaloblastic anemia. [provided by RefSeq].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..187
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q11.2-q13.2"
Protein 1..187
/product="dihydrofolate reductase"
/EC_number="1.5.1.3"
/calculated_mol_wt=21322
CDS 1..187
/gene="DHFR"
/coded_by="NM_000791.3:493..1056"
/db_xref="GeneID:1719"
/db_xref="HGNC:2861"
/db_xref="HPRD:00519"
/db_xref="MIM:126060"
ORIGIN
1 mvgslnciva vsqnmgigkn gdlpwpplrn efryfqrmtt tssvegkqnl vimgkktwfs
61 ipeknrplkg rinlvlsrel keppqgahfl srslddalkl teqpelankv dmvwivggss
121 vykeamnhpg hlklfvtrim qdfesdtffp eidlekykll peypgvlsdv qeekgikykf
181 evyeknd
//