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Q86XF0

- DYRL1_HUMAN

UniProt

Q86XF0 - DYRL1_HUMAN

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Protein

Dihydrofolate reductase, mitochondrial

Gene
DHFRL1, DHFRP4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.2 Publications

Catalytic activityi

5,6,7,8-tetrahydrofolate + NADP+ = 7,8-dihydrofolate + NADPH.1 Publication

Kineticsi

  1. KM=209 µM for dihydrofolate1 Publication
  2. KM=20 µM for NADPH

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei10 – 101NADP; via amide nitrogen and carbonyl oxygen By similarity
Binding sitei71 – 711Substrate By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi16 – 227NADP By similarity
Nucleotide bindingi55 – 573NADP By similarity
Nucleotide bindingi77 – 793NADP By similarity
Nucleotide bindingi117 – 1248NADP By similarity

GO - Molecular functioni

  1. dihydrofolate reductase activity Source: UniProtKB
  2. mRNA binding Source: UniProtKB
  3. NADP binding Source: InterPro

GO - Biological processi

  1. glycine biosynthetic process Source: InterPro
  2. nucleotide biosynthetic process Source: InterPro
  3. one-carbon metabolic process Source: UniProtKB-KW
  4. tetrahydrofolate biosynthetic process Source: UniProtKB-UniPathway
  5. tetrahydrofolate metabolic process Source: UniProtKB
  6. thymidine biosynthetic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

One-carbon metabolism

Keywords - Ligandi

NADP

Enzyme and pathway databases

ReactomeiREACT_11167. Metabolism of folate and pterines.
UniPathwayiUPA00077; UER00158.

Names & Taxonomyi

Protein namesi
Recommended name:
Dihydrofolate reductase, mitochondrial (EC:1.5.1.3)
Alternative name(s):
Dihydrofolate reductase-like protein 1
Gene namesi
Name:DHFRL1
Synonyms:DHFRP4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:27309. DHFRL1.

Subcellular locationi

Mitochondrion. Mitochondrion matrix. Mitochondrion inner membrane 2 Publications

GO - Cellular componenti

  1. mitochondrial inner membrane Source: UniProtKB
  2. mitochondrial matrix Source: UniProtKB
  3. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134889916.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 187187Dihydrofolate reductase, mitochondrialPRO_0000186368Add
BLAST

Proteomic databases

PaxDbiQ86XF0.
PRIDEiQ86XF0.

PTM databases

PhosphoSiteiQ86XF0.

Expressioni

Tissue specificityi

Expressed in numerous cell lines.1 Publication

Gene expression databases

ArrayExpressiQ86XF0.
BgeeiQ86XF0.
GenevestigatoriQ86XF0.

Organism-specific databases

HPAiHPA051465.

Interactioni

Protein-protein interaction databases

BioGridi128354. 1 interaction.
IntActiQ86XF0. 1 interaction.
STRINGi9606.ENSP00000319170.

Structurei

3D structure databases

ProteinModelPortaliQ86XF0.
SMRiQ86XF0. Positions 5-186.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 185182DHFRAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni31 – 366Substrate binding By similarity

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0262.
HOGENOMiHOG000040235.
HOVERGENiHBG000773.
InParanoidiQ86XF0.
KOiK00287.
OMAiGADEICV.
OrthoDBiEOG7V1FS3.
PhylomeDBiQ86XF0.
TreeFamiTF317636.

Family and domain databases

Gene3Di3.40.430.10. 1 hit.
InterProiIPR012259. DHFR.
IPR024072. DHFR-like_dom.
IPR001796. DHFR_dom.
[Graphical view]
PfamiPF00186. DHFR_1. 1 hit.
[Graphical view]
PRINTSiPR00070. DHFR.
SUPFAMiSSF53597. SSF53597. 1 hit.
PROSITEiPS51330. DHFR_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q86XF0-1 [UniParc]FASTAAdd to Basket

« Hide

MFLLLNCIVA VSQNMGIGKN GDLPRPPLRN EFRYFQRMTT TSSVEGKQNL    50
VIMGRKTWFS IPEKNRPLKD RINLVLSREL KEPPQGAHFL ARSLDDALKL 100
TERPELANKV DMIWIVGGSS VYKEAMNHLG HLKLFVTRIM QDFESDTFFS 150
EIDLEKYKLL PEYPGVLSDV QEGKHIKYKF EVCEKDD 187
Length:187
Mass (Da):21,620
Last modified:June 1, 2003 - v1
Checksum:iBA6548FB0F576FF7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti166 – 1661V → I.1 Publication
Corresponds to variant rs17855824 [ dbSNP | Ensembl ].
VAR_061135

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS2926.1.
RefSeqiNP_001182572.1. NM_001195643.1.
NP_789785.1. NM_176815.4.
UniGeneiHs.718516.

Genome annotation databases

EnsembliENST00000314636; ENSP00000319170; ENSG00000178700.
ENST00000394221; ENSP00000377768; ENSG00000178700.
ENST00000461173; ENSP00000418415; ENSG00000178700.
GeneIDi200895.
KEGGihsa:200895.
UCSCiuc003dri.3. human.

Polymorphism databases

DMDMi74727819.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS2926.1.
RefSeqi NP_001182572.1. NM_001195643.1.
NP_789785.1. NM_176815.4.
UniGenei Hs.718516.

3D structure databases

ProteinModelPortali Q86XF0.
SMRi Q86XF0. Positions 5-186.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128354. 1 interaction.
IntActi Q86XF0. 1 interaction.
STRINGi 9606.ENSP00000319170.

PTM databases

PhosphoSitei Q86XF0.

Polymorphism databases

DMDMi 74727819.

Proteomic databases

PaxDbi Q86XF0.
PRIDEi Q86XF0.

Protocols and materials databases

DNASUi 200895.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000314636 ; ENSP00000319170 ; ENSG00000178700 .
ENST00000394221 ; ENSP00000377768 ; ENSG00000178700 .
ENST00000461173 ; ENSP00000418415 ; ENSG00000178700 .
GeneIDi 200895.
KEGGi hsa:200895.
UCSCi uc003dri.3. human.

Organism-specific databases

CTDi 200895.
GeneCardsi GC03M093766.
HGNCi HGNC:27309. DHFRL1.
HPAi HPA051465.
neXtProti NX_Q86XF0.
PharmGKBi PA134889916.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0262.
HOGENOMi HOG000040235.
HOVERGENi HBG000773.
InParanoidi Q86XF0.
KOi K00287.
OMAi GADEICV.
OrthoDBi EOG7V1FS3.
PhylomeDBi Q86XF0.
TreeFami TF317636.

Enzyme and pathway databases

UniPathwayi UPA00077 ; UER00158 .
Reactomei REACT_11167. Metabolism of folate and pterines.

Miscellaneous databases

ChiTaRSi DHFRL1. human.
GenomeRNAii 200895.
NextBioi 90000.
PROi Q86XF0.

Gene expression databases

ArrayExpressi Q86XF0.
Bgeei Q86XF0.
Genevestigatori Q86XF0.

Family and domain databases

Gene3Di 3.40.430.10. 1 hit.
InterProi IPR012259. DHFR.
IPR024072. DHFR-like_dom.
IPR001796. DHFR_dom.
[Graphical view ]
Pfami PF00186. DHFR_1. 1 hit.
[Graphical view ]
PRINTSi PR00070. DHFR.
SUPFAMi SSF53597. SSF53597. 1 hit.
PROSITEi PS51330. DHFR_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Melanoma.
  2. 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.

Entry informationi

Entry nameiDYRL1_HUMAN
AccessioniPrimary (citable) accession number: Q86XF0
Secondary accession number(s): D3DN30, Q6P4I9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: June 1, 2003
Last modified: September 3, 2014
This is version 93 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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