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Protein

Transcriptional activator protein Pur-alpha

Gene

PURA

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

Functioni

This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene. May play a role in the initiation of DNA replication and in recombination.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiQ00577
SIGNORiQ00577

Names & Taxonomyi

Protein namesi
Recommended name:
Transcriptional activator protein Pur-alpha
Alternative name(s):
Purine-rich single-stranded DNA-binding protein alpha
Gene namesi
Name:PURA
Synonyms:PUR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000185129.5
HGNCiHGNC:9701 PURA
MIMi600473 gene
neXtProtiNX_Q00577

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 31 (MRD31)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD31 patients manifest neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay.
See also OMIM:616158
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07269888 – 89IA → T in MRD31. 1 Publication2
Natural variantiVAR_07269989A → P in MRD31. 1 PublicationCorresponds to variant dbSNP:rs587782999EnsemblClinVar.1
Natural variantiVAR_07270097K → E in MRD31. 1 PublicationCorresponds to variant dbSNP:rs587782994EnsemblClinVar.1
Natural variantiVAR_072701100L → P in MRD31. 1 PublicationCorresponds to variant dbSNP:rs587782995EnsemblClinVar.1
Natural variantiVAR_072702157M → K in MRD31. 1 PublicationCorresponds to variant dbSNP:rs587782998EnsemblClinVar.1
Natural variantiVAR_072703199R → P in MRD31. 1 PublicationCorresponds to variant dbSNP:rs587783001EnsemblClinVar.1
Natural variantiVAR_073993206I → F in MRD31. 1 PublicationCorresponds to variant dbSNP:rs786204834EnsemblClinVar.1
Natural variantiVAR_073994233Missing in MRD31. 1 Publication1
Natural variantiVAR_072704271Missing in MRD31. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi5813
MalaCardsiPURA
MIMi616158 phenotype
OpenTargetsiENSG00000185129
PharmGKBiPA34045

Polymorphism and mutation databases

BioMutaiPURA
DMDMi1346918

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000971072 – 322Transcriptional activator protein Pur-alphaAdd BLAST321

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei182PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ00577
MaxQBiQ00577
PaxDbiQ00577
PeptideAtlasiQ00577
PRIDEiQ00577
ProteomicsDBi57857

PTM databases

iPTMnetiQ00577
PhosphoSitePlusiQ00577
SwissPalmiQ00577

Expressioni

Gene expression databases

BgeeiENSG00000185129
CleanExiHS_PURA
GenevisibleiQ00577 HS

Interactioni

Subunit structurei

Homodimer, heterodimer with PURB and heterotrimer with PURB and YBX1/Y-box protein 1. Interacts with FMR1; this interaction occurs in association with polyribosome.By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111772, 39 interactors
IntActiQ00577, 17 interactors
MINTiQ00577
STRINGi9606.ENSP00000332706

Structurei

3D structure databases

ProteinModelPortaliQ00577
SMRiQ00577
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi11 – 53Gly-richAdd BLAST43
Compositional biasi293 – 322Gln/Glu-rich (part of the transcriptional activation domain)Add BLAST30

Sequence similaritiesi

Belongs to the PUR DNA-binding protein family.Curated

Phylogenomic databases

eggNOGiKOG3074 Eukaryota
ENOG410ZKKR LUCA
GeneTreeiENSGT00390000015406
HOGENOMiHOG000232132
HOVERGENiHBG006888
InParanoidiQ00577
KOiK21772
OMAiVPYKVWS
OrthoDBiEOG091G0JS7
PhylomeDBiQ00577
TreeFamiTF313701

Family and domain databases

InterProiView protein in InterPro
IPR006628 PUR-bd_fam
IPR030500 PURalpha
PANTHERiPTHR12611 PTHR12611, 1 hit
PTHR12611:SF2 PTHR12611:SF2, 1 hit
PfamiView protein in Pfam
PF04845 PurA, 1 hit
SMARTiView protein in SMART
SM00712 PUR, 3 hits

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q00577-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MADRDSGSEQ GGAALGSGGS LGHPGSGSGS GGGGGGGGGG GGSGGGGGGA
60 70 80 90 100
PGGLQHETQE LASKRVDIQN KRFYLDVKQN AKGRFLKIAE VGAGGNKSRL
110 120 130 140 150
TLSMSVAVEF RDYLGDFIEH YAQLGPSQPP DLAQAQDEPR RALKSEFLVR
160 170 180 190 200
ENRKYYMDLK ENQRGRFLRI RQTVNRGPGL GSTQGQTIAL PAQGLIEFRD
210 220 230 240 250
ALAKLIDDYG VEEEPAELPE GTSLTVDNKR FFFDVGSNKY GVFMRVSEVK
260 270 280 290 300
PTYRNSITVP YKVWAKFGHT FCKYSEEMKK IQEKQREKRA ACEQLHQQQQ
310 320
QQQEETAAAT LLLQGEEEGE ED
Length:322
Mass (Da):34,911
Last modified:February 1, 1996 - v2
Checksum:i797968504D01B356
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07269888 – 89IA → T in MRD31. 1 Publication2
Natural variantiVAR_07269989A → P in MRD31. 1 PublicationCorresponds to variant dbSNP:rs587782999EnsemblClinVar.1
Natural variantiVAR_07270097K → E in MRD31. 1 PublicationCorresponds to variant dbSNP:rs587782994EnsemblClinVar.1
Natural variantiVAR_072701100L → P in MRD31. 1 PublicationCorresponds to variant dbSNP:rs587782995EnsemblClinVar.1
Natural variantiVAR_072702157M → K in MRD31. 1 PublicationCorresponds to variant dbSNP:rs587782998EnsemblClinVar.1
Natural variantiVAR_072703199R → P in MRD31. 1 PublicationCorresponds to variant dbSNP:rs587783001EnsemblClinVar.1
Natural variantiVAR_073993206I → F in MRD31. 1 PublicationCorresponds to variant dbSNP:rs786204834EnsemblClinVar.1
Natural variantiVAR_073994233Missing in MRD31. 1 Publication1
Natural variantiVAR_072704271Missing in MRD31. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M96684 mRNA Translation: AAA60229.1
U02098 mRNA No translation available.
CCDSiCCDS4220.1
PIRiA45036
RefSeqiNP_005850.1, NM_005859.4
UniGeneiHs.443121
Hs.733524

Genome annotation databases

EnsembliENST00000331327; ENSP00000332706; ENSG00000185129
GeneIDi5813
KEGGihsa:5813
UCSCiuc003lfa.4 human

Similar proteinsi

Entry informationi

Entry nameiPURA_HUMAN
AccessioniPrimary (citable) accession number: Q00577
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: February 1, 1996
Last modified: June 20, 2018
This is version 155 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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