Q9NRG1 (PRDC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Phosphoribosyltransferase domain-containing protein 1

Gene names

Name:	PRTFDC1
Synonyms:	HHGP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	225 AA.
Sequence status	Complete.
Protein existence	Evidence 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.7
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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Ligand	Magnesium Metal-binding Nucleotide-binding
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	nucleoside metabolic process Inferred from electronic annotation. Source: InterPro
Cellular_component	cytosol Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	magnesium ion binding Traceable author statement Ref.7. Source: UniProtKB nucleotide binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 225

225

Phosphoribosyltransferase domain-containing protein 1

PRO_0000318176

Regions

Nucleotide binding

141 – 149

9

GMP

Nucleotide binding

194 – 195

2

GMP

Sites

Metal binding

141

1

Magnesium Probable

Metal binding

142

1

Magnesium Probable

Metal binding

201

1

Magnesium Probable

Binding site

173

1

GMP

Binding site

201

1

GMP; via amide nitrogen and carbonyl oxygen

Natural variations

Alternative sequence

114 – 225

112

NDQSM…EKYRV → LRARLKRTTICDRGGLAFSQ GYMSSCAPLQESPNTLWRGY LQVLIPCFHIRFQLPRSEQN in isoform 3.

VSP_031179

Alternative sequence

185 – 225

41

YAGFE…EKYRV → SHMRHQ in isoform 2.

VSP_031180

Experimental info

Sequence conflict

39

1

L → W in BAD93029. Ref.3

Sequence conflict

65

1

G → R in BAD96394. Ref.3

Secondary structure

1

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225

Helix Strand Turn

Details...

Helix

11 – 13

3

Helix

26 – 28

3

Helix

33 – 35

3

Beta strand

38 – 44

7

Helix

46 – 64

19

Beta strand

69 – 75

7

Turn

76 – 78

3

Helix

79 – 95

17

Beta strand

102 – 109

8

Beta strand

123 – 127

5

Helix

129 – 132

4

Beta strand

135 – 147

13

Helix

148 – 158

11

Beta strand

163 – 173

11

Beta strand

184 – 190

7

Beta strand

210 – 215

6

Helix

217 – 222

6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: CD612C2783AC3071	FASTA	225	25,674
	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
	Isoform 2 [UniParc]. Checksum: 97D7F77097F49A5A	FASTA	190	21,558
	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 FRPDSHMRHQ
	Isoform 3 [UniParc]. Checksum: C807E4679F19B334	FASTA	173	19,983
	10 20 30 40 50 60 MAGSSEEAPD YGRGVVIMDD WPGYDLNLFT YPQHYYGDLE YVLIPHGIIV DRIERLAKDI 70 80 90 100 110 120 MKDIGYSDIM VLCVLKGGYK FCADLVEHLK NISRNSDRFV SMKVDFIRLK SYRLRARLKR 130 140 150 160 170 TTICDRGGLA FSQGYMSSCA PLQESPNTLW RGYLQVLIPC FHIRFQLPRS EQN

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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]	"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.

IPI

IPI00024644.
IPI00477601.
IPI00645291.

RefSeq

NP_064585.1. NM_020200.5.

UniGene

Hs.405619.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2JBH	X-ray	1.70	A/B	1-225	[»]

ProteinModelPortal

Q9NRG1.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9NRG1. 7 interactions.

MINT

MINT-1447274.

STRING

9606.ENSP00000318602.

PTM databases

PhosphoSite

Q9NRG1.

Polymorphism databases

DMDM

74752920.

Proteomic databases

PaxDb

Q9NRG1.

PRIDE

Q9NRG1.

Protocols and materials databases

DNASU

56952.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000320152; ENSP00000318602; ENSG00000099256.
ENST00000376376; ENSP00000365556; ENSG00000099256.
ENST00000376378; ENSP00000365558; ENSG00000099256.

GeneID

56952.

KEGG

hsa:56952.

UCSC

uc001ise.1. human.
uc010qdd.1. human.

Organism-specific databases

CTD

56952.

GeneCards

GC10M025177.

HGNC

HGNC:23333. PRTFDC1.

HPA

HPA021458.

MIM

610751. gene.

neXtProt

NX_Q9NRG1.

PharmGKB

PA134888009.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG0634.

HOGENOM

HOG000236521.

HOVERGEN

HBG000242.

OMA

SIKIVTL.

OrthoDB

EOG4H72CM.

PhylomeDB

Q9NRG1.

Gene expression databases

Bgee

Q9NRG1.

CleanEx

HS_PRTFDC1.

Genevestigator

Q9NRG1.

Family and domain databases

InterPro

IPR005904. Hxn_phspho_trans.
IPR000836. PRibTrfase_dom.
[Graphical view]

Pfam

PF00156. Pribosyltran. 1 hit.
[Graphical view]

TIGRFAMs

TIGR01203. HGPRTase. 1 hit.

PROSITE

PS00103. PUR_PYR_PR_TRANSFER. False negative.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

PRTFDC1. human.

EvolutionaryTrace

Q9NRG1.

GenomeRNAi

56952.

NextBio

62559.

SOURCE

Search...

Entry information

Entry name

PRDC1_HUMAN

Accession

Primary (citable) accession number: Q9NRG1
Secondary accession number(s): B7Z1Z3 , Q53HA7, Q59EL9, Q5VV18, Q5VV20

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 5, 2008
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 116 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.