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Protein

Phosphoribosyltransferase domain-containing protein 1

Gene

PRTFDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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)DescriptionActionsGraphical viewLength
Metal bindingi141MagnesiumCurated1
Metal bindingi142MagnesiumCurated1
Binding sitei173GMP1 Publication1
Metal bindingi201MagnesiumCurated1
Binding sitei201GMP; via amide nitrogen and carbonyl oxygen1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi141 – 149GMP1 Publication9
Nucleotide bindingi194 – 195GMP1 Publication2

GO - Molecular functioni

  • magnesium ion binding Source: UniProtKB
  • nucleotide binding Source: UniProtKB-KW
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

Keywordsi

LigandMagnesium, 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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:23333. PRTFDC1.

Subcellular locationi

GO - Cellular componenti

Pathology & Biotechi

Organism-specific databases

DisGeNETi56952.
OpenTargetsiENSG00000099256.
PharmGKBiPA134888009.

Polymorphism and mutation databases

DMDMi74752920.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00003181762 – 225Phosphoribosyltransferase domain-containing protein 1Add BLAST224

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9NRG1.
MaxQBiQ9NRG1.
PaxDbiQ9NRG1.
PeptideAtlasiQ9NRG1.
PRIDEiQ9NRG1.

PTM databases

iPTMnetiQ9NRG1.
PhosphoSitePlusiQ9NRG1.

Expressioni

Gene expression databases

BgeeiENSG00000099256.
CleanExiHS_PRTFDC1.
GenevisibleiQ9NRG1. HS.

Organism-specific databases

HPAiHPA021458.

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi121276. 30 interactors.
IntActiQ9NRG1. 19 interactors.
MINTiMINT-1447274.
STRINGi9606.ENSP00000318602.

Structurei

Secondary structure

1225
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi11 – 13Combined sources3
Helixi26 – 28Combined sources3
Helixi33 – 35Combined sources3
Beta strandi38 – 44Combined sources7
Helixi46 – 64Combined sources19
Beta strandi69 – 75Combined sources7
Turni76 – 78Combined sources3
Helixi79 – 95Combined sources17
Beta strandi102 – 109Combined sources8
Beta strandi111 – 113Combined sources3
Beta strandi123 – 127Combined sources5
Helixi129 – 132Combined sources4
Beta strandi135 – 147Combined sources13
Helixi148 – 158Combined sources11
Beta strandi163 – 173Combined sources11
Beta strandi184 – 190Combined sources7
Beta strandi210 – 215Combined sources6
Helixi217 – 222Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2JBHX-ray1.70A/B1-225[»]
ProteinModelPortaliQ9NRG1.
SMRiQ9NRG1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NRG1.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3367. Eukaryota.
COG0634. LUCA.
GeneTreeiENSGT00390000017323.
HOGENOMiHOG000236521.
HOVERGENiHBG000242.
InParanoidiQ9NRG1.
OMAiRNIMDDL.
OrthoDBiEOG091G0K6K.
PhylomeDBiQ9NRG1.
TreeFamiTF313367.

Family and domain databases

CDDicd06223. PRTases_typeI. 1 hit.
InterProiView protein in InterPro
IPR005904. Hxn_phspho_trans.
IPR000836. PRibTrfase_dom.
IPR029057. PRTase-like.
PfamiView protein in Pfam
PF00156. Pribosyltran. 1 hit.
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. AlignAdd to basket

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

        10         20         30         40         50
MAGSSEEAPD YGRGVVIMDD WPGYDLNLFT YPQHYYGDLE YVLIPHGIIV
60 70 80 90 100
DRIERLAKDI MKDIGYSDIM VLCVLKGGYK FCADLVEHLK NISRNSDRFV
110 120 130 140 150
SMKVDFIRLK SYRNDQSMGE MQIIGGDDLS TLAGKNVLIV EDVVGTGRTM
160 170 180 190 200
KALLSNIEKY KPNMIKVASL LVKRTSRSDG FRPDYAGFEI PNLFVVGYAL
210 220
DYNEYFRDLN HICVINEHGK EKYRV
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 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti39L → W in BAD93029 (Ref. 3) Curated1
Sequence conflicti65G → R in BAD96394 (Ref. 3) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_031179114 – 225NDQSM…EKYRV → LRARLKRTTICDRGGLAFSQ GYMSSCAPLQESPNTLWRGY LQVLIPCFHIRFQLPRSEQN in isoform 3. CuratedAdd BLAST112
Alternative sequenceiVSP_031180185 – 225YAGFE…EKYRV → SHMRHQ in isoform 2. 1 PublicationAdd BLAST41

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.3. human. [Q9NRG1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPRDC1_HUMAN
AccessioniPrimary (citable) accession number: Q9NRG1
Secondary accession number(s): B7Z1Z3
, Q53HA7, Q59EL9, Q5VV18, Q5VV20
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: October 1, 2000
Last modified: August 30, 2017
This is version 153 of the entry and version 1 of the sequence. See 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