PURA
entrez
5813
canonical
uniprot
Q00577
canonical
ensembl
ENSG00000185129
resolver
ensp
ENSP00000332706
resolver
ensp
ENSP00000499133
resolver
enst
ENST00000331327
resolver
enst
ENST00000651386
resolver
genesymbol
PURA
resolver
genesymbol_syn
PUR1
resolver
hgnc
HGNC:9701
resolver
uniprot_entry
PURA_HUMAN
resolver
amino_acid_sequence
MADRDSGSEQGGAALGSGGSLGHPGSGSGSGGGGGGGGGGGGSGGGGGGAPGGLQHETQELASKRVDIQNKRFYLDVKQNAKGRFLKIAEVGAGGNKSRLTLSMSVAVEFRDYLGDFIEHYAQLGPSQPPDLAQAQDEPRRALKSEFLVRENRKYYMDLKENQRGRFLRIRQTVNRGPGLGSTQGQTIALPAQGLIEFRDALAKLIDDYGVEEEPAELPEGTSLTVDNKRFFFDVGSNKYGVFMRVSEVKPTYRNSITVPYKVWAKFGHTFCKYSEEMKKIQEKQREKRAACEQLHQQQQQQQEETAAATLLLQGEEEGEED
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) [MIM:616158]: An autosomal dominant disorder characterized by severe neonatal hypotonia, respiratory and feeding difficulties, encephalopathy, and severe developmental delay. Additional common features may include seizures, exaggerated startle reflex, abnormal movements, and dysmorphic facial features. {ECO:0000269|PubMed:25342064, ECO:0000269|PubMed:25439098}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene (PubMed:1448097, PubMed:20976240). May play a role in the initiation of DNA replication and in recombination. {ECO:0000269|PubMed:1448097, ECO:0000269|PubMed:20976240}.
uniprot
proteins
mass_dalton
34911
uniprot
proteins
protein_family
PUR DNA-binding protein family
uniprot
proteins
pubmed
1448097
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20976240
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25342064
uniprot
proteins
pubmed
25439098
uniprot
proteins
sequence_length
322
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins