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Q9NRG1

- PRDC1_HUMAN

UniProt

Q9NRG1 - PRDC1_HUMAN

Protein

Phosphoribosyltransferase domain-containing protein 1

Gene

PRTFDC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Has low, barely detectable phosphoribosyltransferase activity (in vitro). Binds GMP, IMP and alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). Is not expected to contribute to purine metabolism or GMP salvage.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi141 – 1411MagnesiumCurated
    Metal bindingi142 – 1421MagnesiumCurated
    Binding sitei173 – 1731GMP1 Publication
    Metal bindingi201 – 2011MagnesiumCurated
    Binding sitei201 – 2011GMP; via amide nitrogen and carbonyl oxygen1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi141 – 1499GMP1 Publication
    Nucleotide bindingi194 – 1952GMP1 Publication

    GO - Molecular functioni

    1. magnesium ion binding Source: UniProtKB
    2. nucleotide binding Source: UniProtKB-KW
    3. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. nucleoside metabolic process Source: InterPro

    Keywords - Ligandi

    Magnesium, Metal-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Phosphoribosyltransferase domain-containing protein 1
    Gene namesi
    Name:PRTFDC1
    Synonyms:HHGP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23333. PRTFDC1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: RefGenome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134888009.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 225224Phosphoribosyltransferase domain-containing protein 1PRO_0000318176Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine2 Publications

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9NRG1.
    PaxDbiQ9NRG1.
    PRIDEiQ9NRG1.

    PTM databases

    PhosphoSiteiQ9NRG1.

    Expressioni

    Gene expression databases

    BgeeiQ9NRG1.
    CleanExiHS_PRTFDC1.
    GenevestigatoriQ9NRG1.

    Organism-specific databases

    HPAiHPA021458.

    Interactioni

    Subunit structurei

    Homodimer.1 Publication

    Protein-protein interaction databases

    BioGridi121276. 9 interactions.
    IntActiQ9NRG1. 7 interactions.
    MINTiMINT-1447274.
    STRINGi9606.ENSP00000318602.

    Structurei

    Secondary structure

    1
    225
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi11 – 133
    Helixi26 – 283
    Helixi33 – 353
    Beta strandi38 – 447
    Helixi46 – 6419
    Beta strandi69 – 757
    Turni76 – 783
    Helixi79 – 9517
    Beta strandi102 – 1098
    Beta strandi123 – 1275
    Helixi129 – 1324
    Beta strandi135 – 14713
    Helixi148 – 15811
    Beta strandi163 – 17311
    Beta strandi184 – 1907
    Beta strandi210 – 2156
    Helixi217 – 2226

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2JBHX-ray1.70A/B1-225[»]
    ProteinModelPortaliQ9NRG1.
    SMRiQ9NRG1. Positions 9-225.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9NRG1.

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0634.
    HOGENOMiHOG000236521.
    HOVERGENiHBG000242.
    OMAiECHAHEA.
    OrthoDBiEOG7673CK.
    PhylomeDBiQ9NRG1.
    TreeFamiTF313367.

    Family and domain databases

    Gene3Di3.40.50.2020. 1 hit.
    InterProiIPR005904. Hxn_phspho_trans.
    IPR000836. PRibTrfase_dom.
    IPR029057. PRTase-like.
    [Graphical view]
    PfamiPF00156. Pribosyltran. 1 hit.
    [Graphical view]
    SUPFAMiSSF53271. SSF53271. 1 hit.
    TIGRFAMsiTIGR01203. HGPRTase. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NRG1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAGSSEEAPD YGRGVVIMDD WPGYDLNLFT YPQHYYGDLE YVLIPHGIIV    50
    DRIERLAKDI MKDIGYSDIM VLCVLKGGYK FCADLVEHLK NISRNSDRFV 100
    SMKVDFIRLK SYRNDQSMGE MQIIGGDDLS TLAGKNVLIV EDVVGTGRTM 150
    KALLSNIEKY KPNMIKVASL LVKRTSRSDG FRPDYAGFEI PNLFVVGYAL 200
    DYNEYFRDLN HICVINEHGK EKYRV 225
    Length:225
    Mass (Da):25,674
    Last modified:October 1, 2000 - v1
    Checksum:iCD612C2783AC3071
    GO
    Isoform 2 (identifier: Q9NRG1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         185-225: YAGFEIPNLFVVGYALDYNEYFRDLNHICVINEHGKEKYRV → SHMRHQ

    Show »
    Length:190
    Mass (Da):21,558
    Checksum:i97D7F77097F49A5A
    GO
    Isoform 3 (identifier: Q9NRG1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         114-225: NDQSMGEMQI...NEHGKEKYRV → LRARLKRTTI...RFQLPRSEQN

    Show »
    Length:173
    Mass (Da):19,983
    Checksum:iC807E4679F19B334
    GO

    Sequence cautioni

    The sequence BAD93029.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti39 – 391L → W in BAD93029. 1 PublicationCurated
    Sequence conflicti65 – 651G → R in BAD96394. 1 PublicationCurated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei114 – 225112NDQSM…EKYRV → LRARLKRTTICDRGGLAFSQ GYMSSCAPLQESPNTLWRGY LQVLIPCFHIRFQLPRSEQN in isoform 3. CuratedVSP_031179Add
    BLAST
    Alternative sequencei185 – 22541YAGFE…EKYRV → SHMRHQ in isoform 2. 1 PublicationVSP_031180Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF226056 mRNA. Translation: AAF86956.1.
    AK021950 mRNA. Translation: BAB13944.1.
    AB209792 mRNA. Translation: BAD93029.1. Different initiation.
    AK222674 mRNA. Translation: BAD96394.1.
    AK294130 mRNA. Translation: BAH11679.1.
    AL157385, AL512598 Genomic DNA. Translation: CAH70349.1.
    AL157385, AL512598 Genomic DNA. Translation: CAH70350.1.
    AL157385, AL512598 Genomic DNA. Translation: CAH70351.1.
    AL512598, AL157385 Genomic DNA. Translation: CAH70785.1.
    AL512598, AL157385 Genomic DNA. Translation: CAH70786.1.
    AL512598, AL157385 Genomic DNA. Translation: CAH70787.1.
    CH471072 Genomic DNA. Translation: EAW86120.1.
    BC008662 mRNA. Translation: AAH08662.1.
    CCDSiCCDS60506.1. [Q9NRG1-2]
    CCDS7145.1. [Q9NRG1-1]
    RefSeqiNP_001269715.1. NM_001282786.1. [Q9NRG1-2]
    NP_064585.1. NM_020200.6. [Q9NRG1-1]
    UniGeneiHs.405619.

    Genome annotation databases

    EnsembliENST00000320152; ENSP00000318602; ENSG00000099256. [Q9NRG1-1]
    ENST00000376376; ENSP00000365556; ENSG00000099256. [Q9NRG1-3]
    ENST00000376378; ENSP00000365558; ENSG00000099256. [Q9NRG1-2]
    GeneIDi56952.
    KEGGihsa:56952.
    UCSCiuc001ise.1. human. [Q9NRG1-1]
    uc010qdd.1. human. [Q9NRG1-2]

    Polymorphism databases

    DMDMi74752920.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF226056 mRNA. Translation: AAF86956.1 .
    AK021950 mRNA. Translation: BAB13944.1 .
    AB209792 mRNA. Translation: BAD93029.1 . Different initiation.
    AK222674 mRNA. Translation: BAD96394.1 .
    AK294130 mRNA. Translation: BAH11679.1 .
    AL157385 , AL512598 Genomic DNA. Translation: CAH70349.1 .
    AL157385 , AL512598 Genomic DNA. Translation: CAH70350.1 .
    AL157385 , AL512598 Genomic DNA. Translation: CAH70351.1 .
    AL512598 , AL157385 Genomic DNA. Translation: CAH70785.1 .
    AL512598 , AL157385 Genomic DNA. Translation: CAH70786.1 .
    AL512598 , AL157385 Genomic DNA. Translation: CAH70787.1 .
    CH471072 Genomic DNA. Translation: EAW86120.1 .
    BC008662 mRNA. Translation: AAH08662.1 .
    CCDSi CCDS60506.1. [Q9NRG1-2 ]
    CCDS7145.1. [Q9NRG1-1 ]
    RefSeqi NP_001269715.1. NM_001282786.1. [Q9NRG1-2 ]
    NP_064585.1. NM_020200.6. [Q9NRG1-1 ]
    UniGenei Hs.405619.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2JBH X-ray 1.70 A/B 1-225 [» ]
    ProteinModelPortali Q9NRG1.
    SMRi Q9NRG1. Positions 9-225.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121276. 9 interactions.
    IntActi Q9NRG1. 7 interactions.
    MINTi MINT-1447274.
    STRINGi 9606.ENSP00000318602.

    PTM databases

    PhosphoSitei Q9NRG1.

    Polymorphism databases

    DMDMi 74752920.

    Proteomic databases

    MaxQBi Q9NRG1.
    PaxDbi Q9NRG1.
    PRIDEi Q9NRG1.

    Protocols and materials databases

    DNASUi 56952.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000320152 ; ENSP00000318602 ; ENSG00000099256 . [Q9NRG1-1 ]
    ENST00000376376 ; ENSP00000365556 ; ENSG00000099256 . [Q9NRG1-3 ]
    ENST00000376378 ; ENSP00000365558 ; ENSG00000099256 . [Q9NRG1-2 ]
    GeneIDi 56952.
    KEGGi hsa:56952.
    UCSCi uc001ise.1. human. [Q9NRG1-1 ]
    uc010qdd.1. human. [Q9NRG1-2 ]

    Organism-specific databases

    CTDi 56952.
    GeneCardsi GC10M025177.
    HGNCi HGNC:23333. PRTFDC1.
    HPAi HPA021458.
    MIMi 610751. gene.
    neXtProti NX_Q9NRG1.
    PharmGKBi PA134888009.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0634.
    HOGENOMi HOG000236521.
    HOVERGENi HBG000242.
    OMAi ECHAHEA.
    OrthoDBi EOG7673CK.
    PhylomeDBi Q9NRG1.
    TreeFami TF313367.

    Miscellaneous databases

    ChiTaRSi PRTFDC1. human.
    EvolutionaryTracei Q9NRG1.
    GenomeRNAii 56952.
    NextBioi 62559.
    PROi Q9NRG1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NRG1.
    CleanExi HS_PRTFDC1.
    Genevestigatori Q9NRG1.

    Family and domain databases

    Gene3Di 3.40.50.2020. 1 hit.
    InterProi IPR005904. Hxn_phspho_trans.
    IPR000836. PRibTrfase_dom.
    IPR029057. PRTase-like.
    [Graphical view ]
    Pfami PF00156. Pribosyltran. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53271. SSF53271. 1 hit.
    TIGRFAMsi TIGR01203. HGPRTase. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "A novel gene expressed in human liver cancer tissue."
      Li Y., Wu T., Xu S., Ren S., Chen Z., Han Z.
      Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Liver cancer.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Brain cortex and Embryo.
    3. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    4. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 2 AND 3).
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORM 1).
      Tissue: Eye.
    7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1."
      Welin M., Egeblad L., Johansson A., Stenmark P., Wang L., Flodin S., Nyman T., Tresaugues L., Kotenyova T., Johansson I., Eriksson S., Eklund H., Nordlund P.
      FEBS J. 277:4920-4930(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) IN COMPLEX WITH GMP; PHOSPHATE AND CALCIUM IONS, SUBUNIT, ABSENCE OF PHOSPHORIBOSYLTRANSFERASE ACTIVITY.

    Entry informationi

    Entry nameiPRDC1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NRG1
    Secondary accession number(s): B7Z1Z3
    , Q53HA7, Q59EL9, Q5VV18, Q5VV20
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 127 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

    Caution

    Lacks the conserved active site Asp and has no significant phosphoribosyltransferase activity.Curated

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3