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Protein

Poly(U)-binding-splicing factor PUF60

Gene

PUF60

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 TROVE2. Binds to poly(U) RNA.6 Publications

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • DNA binding Source: UniProtKB-KW
  • nucleotide binding Source: InterPro
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor, Ribonucleoprotein

Keywords - Biological processi

Apoptosis, mRNA processing, mRNA splicing, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, RNA-binding

Enzyme and pathway databases

ReactomeiR-HSA-72163. mRNA Splicing - Major Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Poly(U)-binding-splicing factor PUF60
Alternative name(s):
60 kDa poly(U)-binding-splicing factor
FUSE-binding protein-interacting repressor
Short name:
FBP-interacting repressor
Ro-binding protein 1
Short name:
RoBP1
Siah-binding protein 1
Short name:
Siah-BP1
Gene namesi
Name:PUF60
Synonyms:FIR, ROBPI, SIAHBP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:17042. PUF60.

Subcellular locationi

  • Nucleus 2 Publications

  • Note: Colocalizes partially with TROVE2.

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Verheij syndrome (VRJS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615583
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070939169H → Y in VRJS; loss of function mutation; results in altered dosage of dfferent PUF60 protein forms and abnormal splicing profile of several target genes. 1 PublicationCorresponds to variant rs398123001dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi22827.
MalaCardsiPUF60.
MIMi615583. phenotype.
OpenTargetsiENSG00000179950.
ENSG00000274081.
PharmGKBiPA162400364.

Polymorphism and mutation databases

DMDMi74761960.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002995191 – 559Poly(U)-binding-splicing factor PUF60Add BLAST559

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei60PhosphothreonineCombined sources1
Modified residuei112PhosphoserineCombined sources1
Modified residuei244PhosphoserineBy similarity1
Modified residuei251N6-acetyllysineCombined sources1
Modified residuei314PhosphothreonineCombined sources1
Modified residuei454N6-acetyllysineCombined sources1
Cross-linki458Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 5 (identifier: Q9UHX1-5)
Cross-linki14Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 6 (identifier: Q9UHX1-6)
Cross-linki14Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9UHX1.
PaxDbiQ9UHX1.
PeptideAtlasiQ9UHX1.
PRIDEiQ9UHX1.
TopDownProteomicsiQ9UHX1-3. [Q9UHX1-3]

PTM databases

iPTMnetiQ9UHX1.
PhosphoSitePlusiQ9UHX1.
SwissPalmiQ9UHX1.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000179950.
CleanExiHS_PUF60.
ExpressionAtlasiQ9UHX1. baseline and differential.
GenevisibleiQ9UHX1. HS.

Organism-specific databases

HPAiHPA045733.
HPA052096.
HPA059714.

Interactioni

Subunit structurei

Homodimer. Associates with the spliceosome. Found in a complex with TROVE2 and Y5 RNA. Found in a complex with FUBP1 and far upstream element (FUSE) DNA segment. Interacts directly with ERCC3. Interacts with CDK7, GTF2H1 and SFRS11. Does not interact with ERCC3 in xeroderma pigmentosum complementation group B (XPB) cells.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself4EBI-1053259,EBI-1053259
ARL8AQ96BM93EBI-1053259,EBI-4401082
CACNA1AO005552EBI-1053259,EBI-766279
CCNCP248633EBI-1053259,EBI-395261
KIAA0907Q7Z7F03EBI-1053259,EBI-751942
KIAA1683Q9H0B33EBI-1053259,EBI-745878
LOH12CR1Q969J34EBI-1053259,EBI-747707
MED28Q9H2046EBI-1053259,EBI-514199
PCBP1Q153652EBI-1053259,EBI-946095
PPP1R16AQ96I342EBI-1053259,EBI-710402
QRICH1Q2TAL83EBI-1053259,EBI-2798044
RAD23BP547273EBI-1053259,EBI-954531
SAP30BPQ9UHR59EBI-1053259,EBI-751683
SDCBPO005603EBI-1053259,EBI-727004
SIAH1Q8IUQ47EBI-1053259,EBI-747107
SRSF11Q055196EBI-1053259,EBI-1051785
SRSF11Q05519-24EBI-11529177,EBI-11975029
U2AF2P263685EBI-1053259,EBI-742339
UBE2IQ7KZS03EBI-1053259,EBI-10180829
UPF2Q9HAU53EBI-1053259,EBI-372073
ZG16O608443EBI-1053259,EBI-746479

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL

Protein-protein interaction databases

BioGridi116502. 128 interactors.
DIPiDIP-34636N.
IntActiQ9UHX1. 56 interactors.
MINTiMINT-1374433.
STRINGi9606.ENSP00000434359.

Structurei

Secondary structure

1559
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi118 – 128Combined sources11
Beta strandi130 – 134Combined sources5
Helixi142 – 149Combined sources8
Helixi150 – 152Combined sources3
Beta strandi155 – 160Combined sources6
Turni164 – 166Combined sources3
Beta strandi171 – 179Combined sources9
Helixi180 – 190Combined sources11
Beta strandi194 – 199Combined sources6
Beta strandi201 – 203Combined sources3
Helixi206 – 208Combined sources3
Helixi209 – 211Combined sources3
Helixi212 – 222Combined sources11
Helixi223 – 225Combined sources3
Beta strandi227 – 231Combined sources5
Beta strandi235 – 237Combined sources3
Helixi239 – 246Combined sources8
Beta strandi252 – 259Combined sources8
Turni261 – 263Combined sources3
Beta strandi266 – 276Combined sources11
Helixi277 – 287Combined sources11
Beta strandi293 – 296Combined sources4
Beta strandi298 – 301Combined sources4
Beta strandi306 – 309Combined sources4
Helixi445 – 448Combined sources4
Turni449 – 452Combined sources4
Helixi453 – 459Combined sources7
Beta strandi463 – 468Combined sources6
Helixi472 – 474Combined sources3
Helixi479 – 487Combined sources9
Turni488 – 490Combined sources3
Beta strandi493 – 506Combined sources14
Beta strandi510 – 521Combined sources12
Helixi522 – 532Combined sources11
Beta strandi543 – 547Combined sources5
Helixi549 – 553Combined sources5
Beta strandi557 – 559Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DNYNMR-A454-559[»]
2KXFNMR-A119-314[»]
2KXHNMR-A119-314[»]
2QFJX-ray2.10A/B118-316[»]
3DXBX-ray2.20A/B/C/D/E/F/G/H460-499[»]
3UE2X-ray1.23A443-559[»]
3US5X-ray1.38A443-559[»]
3UWTX-ray2.50A118-316[»]
ProteinModelPortaliQ9UHX1.
SMRiQ9UHX1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UHX1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini129 – 207RRM 1PROSITE-ProRule annotationAdd BLAST79
Domaini226 – 304RRM 2PROSITE-ProRule annotationAdd BLAST79
Domaini462 – 549RRM 3; atypicalPROSITE-ProRule annotationAdd BLAST88

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 516Inhibits homodimerizationAdd BLAST516
Regioni77 – 559Inhibits transcriptional repression, interaction with ERCC3 and apoptosis inductionAdd BLAST483

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi321 – 343Ala-richAdd BLAST23

Domaini

The third RNA recognition motif, called PUMP domain, is atypical and may rather mediate homodimerization and/or protein-protein interactions.

Sequence similaritiesi

Belongs to the RRM half pint family.Curated
Contains 3 RRM (RNA recognition motif) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0124. Eukaryota.
ENOG410XSGH. LUCA.
GeneTreeiENSGT00760000118913.
HOVERGENiHBG055622.
InParanoidiQ9UHX1.
KOiK12838.
OMAiGTESIKM.
OrthoDBiEOG091G08UV.
PhylomeDBiQ9UHX1.
TreeFamiTF313987.

Family and domain databases

Gene3Di3.30.70.330. 3 hits.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR006532. PolyU-bd.
IPR000504. RRM_dom.
IPR003954. RRM_dom_euk.
[Graphical view]
PfamiPF00076. RRM_1. 2 hits.
[Graphical view]
SMARTiSM00360. RRM. 3 hits.
SM00361. RRM_1. 2 hits.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 3 hits.
TIGRFAMsiTIGR01645. half-pint. 1 hit.
PROSITEiPS50102. RRM. 3 hits.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UHX1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MATATIALQV NGQQGGGSEP AAAAAVVAAG DKWKPPQGTD SIKMENGQST
60 70 80 90 100
AAKLGLPPLT PEQQEALQKA KKYAMEQSIK SVLVKQTIAH QQQQLTNLQM
110 120 130 140 150
AAVTMGFGDP LSPLQSMAAQ RQRALAIMCR VYVGSIYYEL GEDTIRQAFA
160 170 180 190 200
PFGPIKSIDM SWDSVTMKHK GFAFVEYEVP EAAQLALEQM NSVMLGGRNI
210 220 230 240 250
KVGRPSNIGQ AQPIIDQLAE EARAFNRIYV ASVHQDLSDD DIKSVFEAFG
260 270 280 290 300
KIKSCTLARD PTTGKHKGYG FIEYEKAQSS QDAVSSMNLF DLGGQYLRVG
310 320 330 340 350
KAVTPPMPLL TPATPGGLPP AAAVAAAAAT AKITAQEAVA GAAVLGTLGT
360 370 380 390 400
PGLVSPALTL AQPLGTLPQA VMAAQAPGVI TGVTPARPPI PVTIPSVGVV
410 420 430 440 450
NPILASPPTL GLLEPKKEKE EEELFPESER PEMLSEQEHM SISGSSARHM
460 470 480 490 500
VMQKLLRKQE STVMVLRNMV DPKDIDDDLE GEVTEECGKF GAVNRVIIYQ
510 520 530 540 550
EKQGEEEDAE IIVKIFVEFS IASETHKAIQ ALNGRWFAGR KVVAEVYDQE

RFDNSDLSA
Length:559
Mass (Da):59,875
Last modified:May 1, 2000 - v1
Checksum:i619F3C30D1C5951C
GO
Isoform 2 (identifier: Q9UHX1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-117: Missing.

Show »
Length:542
Mass (Da):58,171
Checksum:i2C67EBE529A0922E
GO
Isoform 3 (identifier: Q9UHX1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.

Show »
Length:516
Mass (Da):55,729
Checksum:iF52D8C619E874B55
GO
Isoform 4 (identifier: Q9UHX1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.
     101-117: Missing.

Show »
Length:499
Mass (Da):54,025
Checksum:i77881512A09C3EFD
GO
Isoform 5 (identifier: Q9UHX1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     9-37: Missing.

Show »
Length:530
Mass (Da):57,103
Checksum:i850251A390ECD30C
GO
Isoform 6 (identifier: Q9UHX1-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     9-37: Missing.
     101-117: Missing.

Show »
Length:513
Mass (Da):55,399
Checksum:i2A5BA6848E391E3A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti3T → R in AAB41656 (Ref. 7) Curated1
Sequence conflicti123R → G in AAB41656 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070939169H → Y in VRJS; loss of function mutation; results in altered dosage of dfferent PUF60 protein forms and abnormal splicing profile of several target genes. 1 PublicationCorresponds to variant rs398123001dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0277171 – 43Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_0277189 – 37Missing in isoform 5 and isoform 6. CuratedAdd BLAST29
Alternative sequenceiVSP_027719101 – 117Missing in isoform 2, isoform 4 and isoform 6. 3 PublicationsAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF217197 mRNA. Translation: AAF27522.2.
AF114818 mRNA. Translation: AAF23589.1.
AK292373 mRNA. Translation: BAF85062.1.
CR457143 mRNA. Translation: CAG33424.1.
CH471162 Genomic DNA. Translation: EAW82187.1.
CH471162 Genomic DNA. Translation: EAW82189.1.
BC008875 mRNA. Translation: AAH08875.1.
BC009734 mRNA. Translation: AAH09734.1.
BC011265 mRNA. Translation: AAH11265.1.
BC011979 mRNA. Translation: AAH11979.1.
U51586 mRNA. Translation: AAB41656.1.
AF190744 mRNA. Translation: AAF05605.1.
CCDSiCCDS47933.1. [Q9UHX1-2]
CCDS47934.1. [Q9UHX1-1]
CCDS47935.1. [Q9UHX1-3]
CCDS59514.1. [Q9UHX1-4]
CCDS59515.1. [Q9UHX1-6]
CCDS59516.1. [Q9UHX1-5]
RefSeqiNP_001129505.1. NM_001136033.2. [Q9UHX1-3]
NP_001258025.1. NM_001271096.1.
NP_001258026.1. NM_001271097.1. [Q9UHX1-6]
NP_001258027.1. NM_001271098.1.
NP_001258028.1. NM_001271099.1. [Q9UHX1-5]
NP_001258029.1. NM_001271100.1. [Q9UHX1-4]
NP_055096.2. NM_014281.4. [Q9UHX1-2]
NP_510965.1. NM_078480.2. [Q9UHX1-1]
XP_016868728.1. XM_017013239.1. [Q9UHX1-3]
XP_016868729.1. XM_017013240.1. [Q9UHX1-4]
UniGeneiHs.521924.

Genome annotation databases

EnsembliENST00000313352; ENSP00000322016; ENSG00000179950. [Q9UHX1-4]
ENST00000349157; ENSP00000322036; ENSG00000179950. [Q9UHX1-2]
ENST00000453551; ENSP00000402953; ENSG00000179950. [Q9UHX1-3]
ENST00000456095; ENSP00000395417; ENSG00000179950. [Q9UHX1-5]
ENST00000526683; ENSP00000434359; ENSG00000179950. [Q9UHX1-1]
ENST00000527197; ENSP00000431960; ENSG00000179950. [Q9UHX1-6]
ENST00000612237; ENSP00000478495; ENSG00000274081. [Q9UHX1-2]
ENST00000620341; ENSP00000484860; ENSG00000274081. [Q9UHX1-1]
ENST00000620953; ENSP00000478209; ENSG00000274081. [Q9UHX1-5]
ENST00000632444; ENSP00000487945; ENSG00000274081. [Q9UHX1-3]
ENST00000633206; ENSP00000487930; ENSG00000274081. [Q9UHX1-4]
GeneIDi22827.
KEGGihsa:22827.
UCSCiuc003yzq.5. human. [Q9UHX1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF217197 mRNA. Translation: AAF27522.2.
AF114818 mRNA. Translation: AAF23589.1.
AK292373 mRNA. Translation: BAF85062.1.
CR457143 mRNA. Translation: CAG33424.1.
CH471162 Genomic DNA. Translation: EAW82187.1.
CH471162 Genomic DNA. Translation: EAW82189.1.
BC008875 mRNA. Translation: AAH08875.1.
BC009734 mRNA. Translation: AAH09734.1.
BC011265 mRNA. Translation: AAH11265.1.
BC011979 mRNA. Translation: AAH11979.1.
U51586 mRNA. Translation: AAB41656.1.
AF190744 mRNA. Translation: AAF05605.1.
CCDSiCCDS47933.1. [Q9UHX1-2]
CCDS47934.1. [Q9UHX1-1]
CCDS47935.1. [Q9UHX1-3]
CCDS59514.1. [Q9UHX1-4]
CCDS59515.1. [Q9UHX1-6]
CCDS59516.1. [Q9UHX1-5]
RefSeqiNP_001129505.1. NM_001136033.2. [Q9UHX1-3]
NP_001258025.1. NM_001271096.1.
NP_001258026.1. NM_001271097.1. [Q9UHX1-6]
NP_001258027.1. NM_001271098.1.
NP_001258028.1. NM_001271099.1. [Q9UHX1-5]
NP_001258029.1. NM_001271100.1. [Q9UHX1-4]
NP_055096.2. NM_014281.4. [Q9UHX1-2]
NP_510965.1. NM_078480.2. [Q9UHX1-1]
XP_016868728.1. XM_017013239.1. [Q9UHX1-3]
XP_016868729.1. XM_017013240.1. [Q9UHX1-4]
UniGeneiHs.521924.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DNYNMR-A454-559[»]
2KXFNMR-A119-314[»]
2KXHNMR-A119-314[»]
2QFJX-ray2.10A/B118-316[»]
3DXBX-ray2.20A/B/C/D/E/F/G/H460-499[»]
3UE2X-ray1.23A443-559[»]
3US5X-ray1.38A443-559[»]
3UWTX-ray2.50A118-316[»]
ProteinModelPortaliQ9UHX1.
SMRiQ9UHX1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116502. 128 interactors.
DIPiDIP-34636N.
IntActiQ9UHX1. 56 interactors.
MINTiMINT-1374433.
STRINGi9606.ENSP00000434359.

PTM databases

iPTMnetiQ9UHX1.
PhosphoSitePlusiQ9UHX1.
SwissPalmiQ9UHX1.

Polymorphism and mutation databases

DMDMi74761960.

Proteomic databases

EPDiQ9UHX1.
PaxDbiQ9UHX1.
PeptideAtlasiQ9UHX1.
PRIDEiQ9UHX1.
TopDownProteomicsiQ9UHX1-3. [Q9UHX1-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313352; ENSP00000322016; ENSG00000179950. [Q9UHX1-4]
ENST00000349157; ENSP00000322036; ENSG00000179950. [Q9UHX1-2]
ENST00000453551; ENSP00000402953; ENSG00000179950. [Q9UHX1-3]
ENST00000456095; ENSP00000395417; ENSG00000179950. [Q9UHX1-5]
ENST00000526683; ENSP00000434359; ENSG00000179950. [Q9UHX1-1]
ENST00000527197; ENSP00000431960; ENSG00000179950. [Q9UHX1-6]
ENST00000612237; ENSP00000478495; ENSG00000274081. [Q9UHX1-2]
ENST00000620341; ENSP00000484860; ENSG00000274081. [Q9UHX1-1]
ENST00000620953; ENSP00000478209; ENSG00000274081. [Q9UHX1-5]
ENST00000632444; ENSP00000487945; ENSG00000274081. [Q9UHX1-3]
ENST00000633206; ENSP00000487930; ENSG00000274081. [Q9UHX1-4]
GeneIDi22827.
KEGGihsa:22827.
UCSCiuc003yzq.5. human. [Q9UHX1-1]

Organism-specific databases

CTDi22827.
DisGeNETi22827.
GeneCardsiPUF60.
HGNCiHGNC:17042. PUF60.
HPAiHPA045733.
HPA052096.
HPA059714.
MalaCardsiPUF60.
MIMi604819. gene.
615583. phenotype.
neXtProtiNX_Q9UHX1.
OpenTargetsiENSG00000179950.
ENSG00000274081.
PharmGKBiPA162400364.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0124. Eukaryota.
ENOG410XSGH. LUCA.
GeneTreeiENSGT00760000118913.
HOVERGENiHBG055622.
InParanoidiQ9UHX1.
KOiK12838.
OMAiGTESIKM.
OrthoDBiEOG091G08UV.
PhylomeDBiQ9UHX1.
TreeFamiTF313987.

Enzyme and pathway databases

ReactomeiR-HSA-72163. mRNA Splicing - Major Pathway.

Miscellaneous databases

ChiTaRSiPUF60. human.
EvolutionaryTraceiQ9UHX1.
GeneWikiiPUF60.
GenomeRNAii22827.
PROiQ9UHX1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179950.
CleanExiHS_PUF60.
ExpressionAtlasiQ9UHX1. baseline and differential.
GenevisibleiQ9UHX1. HS.

Family and domain databases

Gene3Di3.30.70.330. 3 hits.
InterProiIPR012677. Nucleotide-bd_a/b_plait.
IPR006532. PolyU-bd.
IPR000504. RRM_dom.
IPR003954. RRM_dom_euk.
[Graphical view]
PfamiPF00076. RRM_1. 2 hits.
[Graphical view]
SMARTiSM00360. RRM. 3 hits.
SM00361. RRM_1. 2 hits.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 3 hits.
TIGRFAMsiTIGR01645. half-pint. 1 hit.
PROSITEiPS50102. RRM. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPUF60_HUMAN
AccessioniPrimary (citable) accession number: Q9UHX1
Secondary accession number(s): A8K8K8
, Q969E7, Q96D94, Q96H63, Q99628, Q9NZA0, Q9UJY7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 1, 2000
Last modified: November 30, 2016
This is version 150 of the entry and version 1 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

Miscellaneous

Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells.

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.