Reviewed, UniProtKB/Swiss-Prot Q9NRG1 (PRDC1_HUMAN)

Names and origin

Protein names

Recommended name:
    Phosphoribosyltransferase domain-containing protein 1

Gene names

Name:	PRTFDC1
Synonyms:	HHGP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	225 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Sequence similarities

Belongs to the purine/pyrimidine phosphoribosyltransferase family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Technical term	3D-structure
Gene Ontology (GO)
Biological process	purine ribonucleoside salvage Inferred from electronic annotation. Source: InterPro
Cellular component	cytoplasm Inferred from electronic annotation. Source: InterPro
Molecular function	hypoxanthine phosphoribosyltransferase activity Inferred from electronic annotation. Source: InterPro
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
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

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. 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. 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

[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: 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: 15164054] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Eye.

Cross-references

Sequence databases

EMBLGenBankDDBJ

AF226056 mRNA. Translation: AAF86956.1.
AK021950 mRNA. Translation: BAB13944.1.
AB209792 mRNA. Translation: BAD93029.1. Different initiation.
AK222674 mRNA. Translation: BAD96394.1.
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.

UniGene

Hs.405619

3D structure databases

PDBPDBe

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

SMR

Q9NRG1. Positions 9-225.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9NRG1. 7 interactions.

Proteomic databases

PRIDE

Q9NRG1.

Genome annotation databases

Ensembl

ENSG00000099256. Homo sapiens. [Contig view]

GeneID

56952.

KEGG

hsa:56952.

Organism-specific databases

GeneCards

GC10M025177.

HGNC

HGNC:23333. PRTFDC1.

MIM

610751. gene.

PharmGKB

PA134888009.

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

Q9NRG1.

OMA

Q9NRG1. MSSCAPL.

Gene expression databases

ArrayExpress

Q9NRG1.

Bgee

Q9NRG1.

CleanEx

HS_PRTFDC1.

Family and domain databases

InterPro

IPR005904. Hxn_phspho_trans.
IPR002375. Pr/py_Pribosyl_transf_CS.
IPR000836. PRibTrfase.
[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 Resources

NextBio

62559.

SOURCE

Search...

Entry information

Entry name

PRDC1_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 5, 2008
Last sequence update:	October 1, 2000
Last modified:	June 16, 2009
This is version 78 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)