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Protein

Phosphoribosyltransferase domain-containing protein 1

Gene

PRTFDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

Caution

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

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

EuPathDBiHostDB:ENSG00000099256.18
HGNCiHGNC:23333 PRTFDC1
MIMi610751 gene
neXtProtiNX_Q9NRG1

Subcellular locationi

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
ProteomicsDBi82352
82353 [Q9NRG1-2]
82354 [Q9NRG1-3]

PTM databases

iPTMnetiQ9NRG1
PhosphoSitePlusiQ9NRG1

Expressioni

Gene expression databases

BgeeiENSG00000099256 Expressed in 189 organ(s), highest expression level in corpus callosum
CleanExiHS_PRTFDC1
GenevisibleiQ9NRG1 HS

Organism-specific databases

HPAiHPA021458

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121276, 33 interactors
IntActiQ9NRG1, 19 interactors
MINTiQ9NRG1
STRINGi9606.ENSP00000318602

Structurei

Secondary structure

1225
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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 Genomic DNA No translation available.
AL512598 Genomic DNA No translation available.
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: September 12, 2018
This is version 163 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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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