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Protein

Transcriptional activator protein Pur-alpha

Gene

PURA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ00577.

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

HGNCiHGNC:9701. PURA.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: Ensembl
  • dendrite Source: Ensembl
  • DNA replication factor A complex Source: UniProtKB
  • neuronal cell body Source: Ensembl
  • nuclear chromosome, telomeric region Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

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 rs587782999dbSNPEnsembl.1
Natural variantiVAR_07270097K → E in MRD31. 1 PublicationCorresponds to variant rs587782994dbSNPEnsembl.1
Natural variantiVAR_072701100L → P in MRD31. 1 PublicationCorresponds to variant rs587782995dbSNPEnsembl.1
Natural variantiVAR_072702157M → K in MRD31. 1 PublicationCorresponds to variant rs587782998dbSNPEnsembl.1
Natural variantiVAR_072703199R → P in MRD31. 1 PublicationCorresponds to variant rs587783001dbSNPEnsembl.1
Natural variantiVAR_073993206I → F in MRD31. 1 PublicationCorresponds to variant rs786204834dbSNPEnsembl.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.

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

WithEntry#Exp.IntActNotes
P030702EBI-1045860,EBI-617698From a different organism.
P030724EBI-1045860,EBI-8658901From a different organism.
RB1P064006EBI-1045860,EBI-491274

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111772. 37 interactors.
IntActiQ00577. 10 interactors.
MINTiMINT-112751.
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.
OMAiVPYKVWS.
OrthoDBiEOG091G0JS7.
PhylomeDBiQ00577.
TreeFamiTF313701.

Family and domain databases

InterProiIPR006628. PUR-bd_fam.
IPR030500. PURalpha.
[Graphical view]
PANTHERiPTHR12611. PTHR12611. 1 hit.
PTHR12611:SF2. PTHR12611:SF2. 1 hit.
PfamiPF04845. PurA. 1 hit.
[Graphical view]
SMARTiSM00712. PUR. 3 hits.
[Graphical view]

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 rs587782999dbSNPEnsembl.1
Natural variantiVAR_07270097K → E in MRD31. 1 PublicationCorresponds to variant rs587782994dbSNPEnsembl.1
Natural variantiVAR_072701100L → P in MRD31. 1 PublicationCorresponds to variant rs587782995dbSNPEnsembl.1
Natural variantiVAR_072702157M → K in MRD31. 1 PublicationCorresponds to variant rs587782998dbSNPEnsembl.1
Natural variantiVAR_072703199R → P in MRD31. 1 PublicationCorresponds to variant rs587783001dbSNPEnsembl.1
Natural variantiVAR_073993206I → F in MRD31. 1 PublicationCorresponds to variant rs786204834dbSNPEnsembl.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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ00577.
SMRiQ00577.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111772. 37 interactors.
IntActiQ00577. 10 interactors.
MINTiMINT-112751.
STRINGi9606.ENSP00000332706.

PTM databases

iPTMnetiQ00577.
PhosphoSitePlusiQ00577.
SwissPalmiQ00577.

Polymorphism and mutation databases

BioMutaiPURA.
DMDMi1346918.

Proteomic databases

EPDiQ00577.
MaxQBiQ00577.
PaxDbiQ00577.
PeptideAtlasiQ00577.
PRIDEiQ00577.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi5813.
DisGeNETi5813.
GeneCardsiPURA.
HGNCiHGNC:9701. PURA.
MalaCardsiPURA.
MIMi600473. gene.
616158. phenotype.
neXtProtiNX_Q00577.
OpenTargetsiENSG00000185129.
PharmGKBiPA34045.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

SignaLinkiQ00577.

Miscellaneous databases

GeneWikiiPURA.
GenomeRNAii5813.
PROiQ00577.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185129.
CleanExiHS_PURA.
GenevisibleiQ00577. HS.

Family and domain databases

InterProiIPR006628. PUR-bd_fam.
IPR030500. PURalpha.
[Graphical view]
PANTHERiPTHR12611. PTHR12611. 1 hit.
PTHR12611:SF2. PTHR12611:SF2. 1 hit.
PfamiPF04845. PurA. 1 hit.
[Graphical view]
SMARTiSM00712. PUR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPURA_HUMAN
AccessioniPrimary (citable) accession number: Q00577
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: February 1, 1996
Last modified: November 2, 2016
This is version 143 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.