PUF60
entrez
22827
canonical
uniprot
Q9UHX1
canonical
ensembl
ENSG00000179950
resolver
ensp
ENSP00000322016
resolver
ensp
ENSP00000322036
resolver
ensp
ENSP00000395417
resolver
ensp
ENSP00000402953
resolver
ensp
ENSP00000431960
resolver
ensp
ENSP00000432610
resolver
ensp
ENSP00000433403
resolver
ensp
ENSP00000434359
resolver
ensp
ENSP00000436131
resolver
ensp
ENSP00000515499
resolver
enst
ENST00000526459
resolver
enst
ENST00000527744
resolver
enst
ENST00000533162
resolver
enst
ENST00000703847
resolver
genesymbol
PUF60
resolver
genesymbol_syn
FIR
resolver
genesymbol_syn
ROBPI
resolver
genesymbol_syn
SIAHBP1
resolver
hgnc
HGNC:17042
resolver
uniprot
A8K8K8
resolver
uniprot
E9PL19
resolver
uniprot
E9PQ56
resolver
uniprot
H0YEM1
resolver
uniprot
Q969E7
resolver
uniprot
Q96D94
resolver
uniprot
Q96H63
resolver
uniprot
Q99628
resolver
uniprot
Q9NZA0
resolver
uniprot
Q9UJY7
resolver
uniprot_entry
E9PL19_HUMAN
resolver
uniprot_entry
E9PQ56_HUMAN
resolver
uniprot_entry
H0YEM1_HUMAN
resolver
uniprot_entry
PUF60_HUMAN
resolver
uniprot_sec
A8K8K8
resolver
uniprot_sec
Q969E7
resolver
uniprot_sec
Q96D94
resolver
uniprot_sec
Q96H63
resolver
uniprot_sec
Q99628
resolver
uniprot_sec
Q9NZA0
resolver
uniprot_sec
Q9UJY7
resolver
amino_acid_sequence
MATATIALQVNGQQGGGSEPAAAAAVVAAGDKWKPPQGTDSIKMENGQSTAAKLGLPPLTPEQQEALQKAKKYAMEQSIKSVLVKQTIAHQQQQLTNLQMAAVTMGFGDPLSPLQSMAAQRQRALAIMCRVYVGSIYYELGEDTIRQAFAPFGPIKSIDMSWDSVTMKHKGFAFVEYEVPEAAQLALEQMNSVMLGGRNIKVGRPSNIGQAQPIIDQLAEEARAFNRIYVASVHQDLSDDDIKSVFEAFGKIKSCTLARDPTTGKHKGYGFIEYEKAQSSQDAVSSMNLFDLGGQYLRVGKAVTPPMPLLTPATPGGLPPAAAVAAAAATAKITAQEAVAGAAVLGTLGTPGLVSPALTLAQPLGTLPQAVMAAQAPGVITGVTPARPPIPVTIPSVGVVNPILASPPTLGLLEPKKEKEEEELFPESERPEMLSEQEHMSISGSSARHMVMQKLLRKQESTVMVLRNMVDPKDIDDDLEGEVTEECGKFGAVNRVIIYQEKQGEEEDAEIIVKIFVEFSIASETHKAIQALNGRWFAGRKVVAEVYDQERFDNSDLSA
uniprot
proteins
disease_involvement
DISEASE: Verheij syndrome (VRJS) [MIM:615583]: A syndrome characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects. {ECO:0000269|PubMed:24140112}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with RO60. Binds to poly(U) RNA. {ECO:0000269|PubMed:10606266, ECO:0000269|PubMed:10882074, ECO:0000269|PubMed:11239393, ECO:0000269|PubMed:16452196, ECO:0000269|PubMed:16628215, ECO:0000269|PubMed:17579712}.
uniprot
proteins
mass_dalton
59875
uniprot
proteins
protein_family
RRM half pint family
uniprot
proteins
pubmed
10606266
uniprot
proteins
pubmed
10668799
uniprot
proteins
pubmed
10882074
uniprot
proteins
pubmed
11239393
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16452196
uniprot
proteins
pubmed
16628215
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17579712
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24140112
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30698747
uniprot
proteins
sequence_length
559
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10606266, ECO:0000269|PubMed:10668799, ECO:0000269|PubMed:17579712}. Note=Colocalizes partially with RO60. {ECO:0000269|PubMed:10668799}.
uniprot
proteins