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Q86XF0 (DYRL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dihydrofolate reductase, mitochondrial

EC=1.5.1.3
Alternative name(s):
Dihydrofolate reductase-like protein 1
Gene names
Name:DHFRL1
Synonyms:DHFRP4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length187 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Required to prevent uracil accumulation in mtDNA. Binds its own mRNA and that of DHFR. Ref.4 Ref.5

Catalytic activity

5,6,7,8-tetrahydrofolate + NADP+ = 7,8-dihydrofolate + NADPH. Ref.5

Pathway

Cofactor biosynthesis; tetrahydrofolate biosynthesis; 5,6,7,8-tetrahydrofolate from 7,8-dihydrofolate: step 1/1.

Subcellular location

Mitochondrion. Mitochondrion matrix. Mitochondrion inner membrane Ref.4 Ref.5.

Tissue specificity

Expressed in numerous cell lines. Ref.5

Sequence similarities

Belongs to the dihydrofolate reductase family.

Contains 1 DHFR (dihydrofolate reductase) domain.

Biophysicochemical properties

Kinetic parameters:

KM=209 µM for dihydrofolate Ref.5

KM=20 µM for NADPH

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 187187Dihydrofolate reductase, mitochondrial
PRO_0000186368

Regions

Domain4 – 185182DHFR
Nucleotide binding16 – 227NADP By similarity
Nucleotide binding55 – 573NADP By similarity
Nucleotide binding77 – 793NADP By similarity
Nucleotide binding117 – 1248NADP By similarity
Region31 – 366Substrate binding By similarity

Sites

Binding site101NADP; via amide nitrogen and carbonyl oxygen By similarity
Binding site711Substrate By similarity

Natural variations

Natural variant1661V → I. Ref.3
Corresponds to variant rs17855824 [ dbSNP | Ensembl ].
VAR_061135

Sequences

Sequence LengthMass (Da)Tools
Q86XF0 [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: BA6548FB0F576FF7

FASTA18721,620
        10         20         30         40         50         60 
MFLLLNCIVA VSQNMGIGKN GDLPRPPLRN EFRYFQRMTT TSSVEGKQNL VIMGRKTWFS 

        70         80         90        100        110        120 
IPEKNRPLKD RINLVLSREL KEPPQGAHFL ARSLDDALKL TERPELANKV DMIWIVGGSS 

       130        140        150        160        170        180 
VYKEAMNHLG HLKLFVTRIM QDFESDTFFS EIDLEKYKLL PEYPGVLSDV QEGKHIKYKF 


EVCEKDD 

« Hide

References

« Hide 'large scale' references
[1]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Melanoma.
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-166.
Tissue: Brain and Muscle.
[4]"Identification of a de novo thymidylate biosynthesis pathway in mammalian mitochondria."
Anderson D.D., Quintero C.M., Stover P.J.
Proc. Natl. Acad. Sci. U.S.A. 108:15163-15168(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[5]"The former annotated human pseudogene dihydrofolate reductase-like 1 (DHFRL1) is expressed and functional."
McEntee G., Minguzzi S., O'Brien K., Ben Larbi N., Loscher C., O'Fagain C., Parle-McDermott A.
Proc. Natl. Acad. Sci. U.S.A. 108:15157-15162(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, RNA-BINDING, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL832912 mRNA. Translation: CAH10617.1.
CH471052 Genomic DNA. Translation: EAW79895.1.
CH471052 Genomic DNA. Translation: EAW79896.1.
BC045541 mRNA. Translation: AAH45541.1.
BC063379 mRNA. Translation: AAH63379.1.
RefSeqNP_001182572.1. NM_001195643.1.
NP_789785.1. NM_176815.4.
UniGeneHs.718516.

3D structure databases

ProteinModelPortalQ86XF0.
SMRQ86XF0. Positions 5-186.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128354. 1 interaction.
IntActQ86XF0. 1 interaction.
STRING9606.ENSP00000319170.

PTM databases

PhosphoSiteQ86XF0.

Polymorphism databases

DMDM74727819.

Proteomic databases

PaxDbQ86XF0.
PRIDEQ86XF0.

Protocols and materials databases

DNASU200895.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000314636; ENSP00000319170; ENSG00000178700.
ENST00000394221; ENSP00000377768; ENSG00000178700.
ENST00000461173; ENSP00000418415; ENSG00000178700.
GeneID200895.
KEGGhsa:200895.
UCSCuc003dri.3. human.

Organism-specific databases

CTD200895.
GeneCardsGC03M093766.
HGNCHGNC:27309. DHFRL1.
HPAHPA051465.
neXtProtNX_Q86XF0.
PharmGKBPA134889916.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0262.
HOGENOMHOG000040235.
HOVERGENHBG000773.
InParanoidQ86XF0.
KOK00287.
OMASDTFFSE.
OrthoDBEOG7V1FS3.
PhylomeDBQ86XF0.
TreeFamTF317636.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
UniPathwayUPA00077; UER00158.

Gene expression databases

ArrayExpressQ86XF0.
BgeeQ86XF0.
GenevestigatorQ86XF0.

Family and domain databases

Gene3D3.40.430.10. 1 hit.
InterProIPR012259. DHFR.
IPR024072. DHFR-like_dom.
IPR001796. DHFR_dom.
[Graphical view]
PfamPF00186. DHFR_1. 1 hit.
[Graphical view]
PRINTSPR00070. DHFR.
SUPFAMSSF53597. SSF53597. 1 hit.
PROSITEPS51330. DHFR_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDHFRL1. human.
GenomeRNAi200895.
NextBio90000.
PROQ86XF0.

Entry information

Entry nameDYRL1_HUMAN
AccessionPrimary (citable) accession number: Q86XF0
Secondary accession number(s): D3DN30, Q6P4I9
Entry history
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: June 1, 2003
Last modified: April 16, 2014
This is version 90 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM