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Q86XF0

- DYRL1_HUMAN

UniProt

Q86XF0 - DYRL1_HUMAN

Protein

Dihydrofolate reductase, mitochondrial

Gene

DHFRL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 1 (01 Jun 2003)
      Previous versions | rss
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    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 PublicationPROSITE-ProRule annotation

    Kineticsi

    1. KM=209 µM for dihydrofolate1 Publication
    2. KM=20 µM for NADPH1 Publication

    Pathwayi

    Sites

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

    Regions

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

    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

    GO - Cellular componenti

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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini4 – 185182DHFRPROSITE-ProRule annotationAdd
    BLAST

    Region

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

    Sequence similaritiesi

    Belongs to the dihydrofolate reductase family.Curated
    Contains 1 DHFR (dihydrofolate reductase) domain.PROSITE-ProRule annotation

    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

    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: October 1, 2014
    This is version 94 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