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Q9NRG1 (PRDC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Phosphoribosyltransferase domain-containing protein 1
Gene names
Name:PRTFDC1
Synonyms:HHGP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length225 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Homodimer. Ref.9

Sequence similarities

Belongs to the purine/pyrimidine phosphoribosyltransferase family.

Caution

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

Sequence caution

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NRG1-1)

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.
Isoform 2 (identifier: Q9NRG1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     185-225: YAGFEIPNLFVVGYALDYNEYFRDLNHICVINEHGKEKYRV → SHMRHQ
Isoform 3 (identifier: Q9NRG1-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.7
Chain2 – 225224Phosphoribosyltransferase domain-containing protein 1
PRO_0000318176

Regions

Nucleotide binding141 – 1499GMP
Nucleotide binding194 – 1952GMP

Sites

Metal binding1411Magnesium Probable
Metal binding1421Magnesium Probable
Metal binding2011Magnesium Probable
Binding site1731GMP
Binding site2011GMP; via amide nitrogen and carbonyl oxygen

Amino acid modifications

Modified residue21N-acetylalanine Ref.7 Ref.8

Natural variations

Alternative sequence114 – 225112NDQSM…EKYRV → LRARLKRTTICDRGGLAFSQ GYMSSCAPLQESPNTLWRGY LQVLIPCFHIRFQLPRSEQN in isoform 3.
VSP_031179
Alternative sequence185 – 22541YAGFE…EKYRV → SHMRHQ in isoform 2.
VSP_031180

Experimental info

Sequence conflict391L → W in BAD93029. Ref.3
Sequence conflict651G → R in BAD96394. Ref.3

Secondary structure

................................ 225
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: CD612C2783AC3071

FASTA22525,674
        10         20         30         40         50         60 
MAGSSEEAPD YGRGVVIMDD WPGYDLNLFT YPQHYYGDLE YVLIPHGIIV DRIERLAKDI 

        70         80         90        100        110        120 
MKDIGYSDIM VLCVLKGGYK FCADLVEHLK NISRNSDRFV SMKVDFIRLK SYRNDQSMGE 

       130        140        150        160        170        180 
MQIIGGDDLS TLAGKNVLIV EDVVGTGRTM KALLSNIEKY KPNMIKVASL LVKRTSRSDG 

       190        200        210        220 
FRPDYAGFEI PNLFVVGYAL DYNEYFRDLN HICVINEHGK EKYRV 

« Hide

Isoform 2 [UniParc].

Checksum: 97D7F77097F49A5A
Show »

FASTA19021,558
Isoform 3 [UniParc].

Checksum: C807E4679F19B334
Show »

FASTA17319,983

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]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].
[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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001269715.1. NM_001282786.1.
NP_064585.1. NM_020200.6.
UniGeneHs.405619.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2JBHX-ray1.70A/B1-225[»]
ProteinModelPortalQ9NRG1.
SMRQ9NRG1. Positions 9-225.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121276. 9 interactions.
IntActQ9NRG1. 7 interactions.
MINTMINT-1447274.
STRING9606.ENSP00000318602.

PTM databases

PhosphoSiteQ9NRG1.

Polymorphism databases

DMDM74752920.

Proteomic databases

PaxDbQ9NRG1.
PRIDEQ9NRG1.

Protocols and materials databases

DNASU56952.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320152; ENSP00000318602; ENSG00000099256. [Q9NRG1-1]
ENST00000376376; ENSP00000365556; ENSG00000099256. [Q9NRG1-3]
ENST00000376378; ENSP00000365558; ENSG00000099256. [Q9NRG1-2]
GeneID56952.
KEGGhsa:56952.
UCSCuc001ise.1. human. [Q9NRG1-1]
uc010qdd.1. human. [Q9NRG1-2]

Organism-specific databases

CTD56952.
GeneCardsGC10M025177.
HGNCHGNC:23333. PRTFDC1.
HPAHPA021458.
MIM610751. gene.
neXtProtNX_Q9NRG1.
PharmGKBPA134888009.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0634.
HOGENOMHOG000236521.
HOVERGENHBG000242.
OMASIKIVTL.
OrthoDBEOG7673CK.
PhylomeDBQ9NRG1.
TreeFamTF313367.

Gene expression databases

BgeeQ9NRG1.
CleanExHS_PRTFDC1.
GenevestigatorQ9NRG1.

Family and domain databases

InterProIPR005904. Hxn_phspho_trans.
IPR000836. PRibTrfase_dom.
[Graphical view]
PfamPF00156. Pribosyltran. 1 hit.
[Graphical view]
TIGRFAMsTIGR01203. HGPRTase. 1 hit.
ProtoNetSearch...

Other

ChiTaRSPRTFDC1. human.
EvolutionaryTraceQ9NRG1.
GenomeRNAi56952.
NextBio62559.
PROQ9NRG1.
SOURCESearch...

Entry information

Entry namePRDC1_HUMAN
AccessionPrimary (citable) accession number: Q9NRG1
Secondary accession number(s): B7Z1Z3 expand/collapse secondary AC list , Q53HA7, Q59EL9, Q5VV18, Q5VV20
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 123 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM