| Gene Symbol |
PUF60
|
| Entrez Gene |
22827
|
| Alt Symbol |
FIR, RoBPI, SIAHBP1, VRJS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
poly-U binding splicing factor 60KDa
|
| Other Description |
FBP interacting repressor|FUSE-binding protein-interacting repressor|Ro ribonucleoprotein-binding protein 1|Siah binding protein 1|poly(U)-binding-splicing factor PUF60|pyrimidine tract binding splicing factor
|
| Swissprots |
Q96D94 Q969E7 Q96H63 Q9NZA0 A8K8K8 Q9UHX1 Q9UJY7 Q99628
|
| Accessions |
EAW82184 EAW82185 EAW82186 EAW82187 EAW82188 EAW82189 EAW82190 EAW82191 EAW82192 EAW82193 EAW82194 EAW82195 Q9UHX1 AF114818 AAF23589 AF190744 AAF05605 AF217197 AAF27522 AK055941 AK292373 BAF85062 AL522753 AW249619 BC008875 AAH08875 BC009734 AAH09734 BC011265 AAH11265 BC011979 AAH11979 BC035435 BG771821 BX418925 CN371576 CR457143 CAG33424 CT000277 CX163878 U51586 AAB41656 XM_011516929 XP_011515231 XM_011516930 XP_011515232 NM_001136033 NP_001129505 NM_001271096 NP_001258025 NM_001271097 NP_001258026 NM_001271098 NP_001258027 NM_001271099 NP_001258028 NM_001271100 NP_001258029 NM_014281 NP_055096 NM_078480 NP_510965
|
| 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
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:10668799, ECO:0000269|PubMed:17579712}. Note=Colocalizes partially with TROVE2.
|
| Tissue Specificity |
Isoform 2 is expressed in colonic epithelium and colorectal epithelium cancer (at protein level). Isoform 6 is expressed in colorectal epithelial cancer but below detection level in colonic epithelium. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes. {ECO:0000269|PubMed:10668799, ECO:0000269|PubMed:16452196}.
|
| Top Pathways |
Spliceosome
|