Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22827
Gene name	Poly(U) binding splicing factor 60
Gene symbol	PUF60
Synonyms (NCBI Gene)	FIRRoBPISIAHBP1VRJS
Chromosome	8
Chromosome location	8q24.3
Summary	This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs398123001	G>A	Pathogenic	Coding sequence variant, missense variant
rs886041995	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057518046	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307135	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1085307137	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692232	GGGCAAAGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1554643142	CCTGCCCTATGTTGCTGGG>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1554643168	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1554643463	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554643473	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554643584	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554643598	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563826453	TAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586590135	G>-	Pathogenic	Stop gained, coding sequence variant

Show/Hide all (35)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042259	hsa-miR-484	CLASH	23622248
MIRT038851	hsa-miR-93-3p	CLASH	23622248
MIRT439856	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439856	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1276851	hsa-miR-103a	CLIP-seq
MIRT1276852	hsa-miR-107	CLIP-seq
MIRT1276853	hsa-miR-1285	CLIP-seq
MIRT1276854	hsa-miR-1587	CLIP-seq
MIRT1276855	hsa-miR-15a	CLIP-seq
MIRT1276856	hsa-miR-15b	CLIP-seq
MIRT1276857	hsa-miR-16	CLIP-seq
MIRT1276858	hsa-miR-195	CLIP-seq
MIRT1276859	hsa-miR-3127-5p	CLIP-seq
MIRT1276860	hsa-miR-3187-5p	CLIP-seq
MIRT1276861	hsa-miR-34c-3p	CLIP-seq
MIRT1276862	hsa-miR-378g	CLIP-seq
MIRT1276863	hsa-miR-3918	CLIP-seq
MIRT1276864	hsa-miR-424	CLIP-seq
MIRT1276865	hsa-miR-4492	CLIP-seq
MIRT1276866	hsa-miR-4498	CLIP-seq
MIRT1276867	hsa-miR-4505	CLIP-seq
MIRT1276868	hsa-miR-4530	CLIP-seq
MIRT1276869	hsa-miR-4532	CLIP-seq
MIRT1276870	hsa-miR-4640-5p	CLIP-seq
MIRT1276871	hsa-miR-4656	CLIP-seq
MIRT1276872	hsa-miR-4675	CLIP-seq
MIRT1276873	hsa-miR-4726-5p	CLIP-seq
MIRT1276874	hsa-miR-4741	CLIP-seq
MIRT1276875	hsa-miR-4783-5p	CLIP-seq
MIRT1276876	hsa-miR-497	CLIP-seq
MIRT1276877	hsa-miR-612	CLIP-seq
MIRT1276878	hsa-miR-762	CLIP-seq
MIRT2081487	hsa-miR-3929	CLIP-seq
MIRT2081488	hsa-miR-4419b	CLIP-seq
MIRT2081489	hsa-miR-4478	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IBA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IBA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16169070, 16189514, 16713569, 18255255, 20711187, 21078624, 21516116, 21988832, 22365833, 25416956, 26871637, 30698747, 32296183, 32814053, 33961781, 39251607
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006376	Process	MRNA splice site recognition	IBA
GO:0006397	Process	MRNA processing	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0030054	Component	Cell junction	IDA
GO:0042802	Function	Identical protein binding	IPI	16189514, 21516116, 22365833, 25416956, 32296183
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
604819	17042	ENSG00000179950

Q9UHX1

Protein name

Poly(U)-binding-splicing factor PUF60 (60 kDa poly(U)-binding-splicing factor) (FUSE-binding protein-interacting repressor) (FBP-interacting repressor) (Ro-binding protein 1) (RoBP1) (Siah-binding protein 1) (Siah-BP1)

Protein 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 transcri

PDB

2DNY , 2KXF , 2KXH , 2QFJ , 3DXB , 3UE2 , 3US5 , 3UWT , 5KVY , 5KW1 , 5KW6 , 5KWQ , 6LUR , 6SLO , 7Q8A , 7Z3X

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	131 → 201	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	228 → 298	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

Tissue specificity

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, placen

Sequence

MATATIALQVNGQQGGGSEPAAAAAVVAAGDKWKPPQGTDSIKMENGQSTAAKLGLPPLT
PEQQEALQKAKKYAMEQSIKSVLVKQTIAHQQQQLTNLQMAAVTMGFGDPLSPLQSMAAQ
RQRALAIMCRVYVGSIYYELGEDTIRQAFAPFGPIKSIDMSWDSVTMKHKGFAFVEYEVP
EAAQLALEQMNSVMLGGRNIKVGRPSNIGQAQPIIDQLAEEARAFNRIYVASVHQDLSDD
DIKSVFEAFGKIKSCTLARDPTTGKHKGYGFIEYEKAQSSQDAVSSMNLFDLGGQYLRVG
KAVTPPMPLLTPATPGGLPPAAAVAAAAATAKITAQEAVAGAAVLGTLGTPGLVSPALTL
AQPLGTLPQAVMAAQAPGVITGVTPARPPIPVTIPSVGVVNPILASPPTLGLLEPKKEKE
EEELFPESERPEMLSEQEHMSISGSSARHMVMQKLLRKQESTVMVLRNMVDPKDIDDDLE
GEVTEECGKFGAVNRVIIYQEKQGEEEDAEIIVKIFVEFSIASETHKAIQALNGRWFAGR
KVVAEVYDQERFDNSDLSA

Sequence length

559

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway

112

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
8q24.3 microdeletion syndrome	Pathogenic; Likely pathogenic	rs1816565787, rs2130258214, rs2130256693, rs1064795388, rs2130223089, rs2130244708, rs2130242101, rs2130247180, rs2130242336, rs2130205866, rs2130202692, rs1210239952, rs1464053660, rs1229324113, rs1816618311 View all (37 more)	RCV001336869 RCV002246415 RCV001782691 RCV001783649 RCV001807871 RCV001807873 RCV001807874 RCV001810515 RCV001810516 RCV001810517 RCV002071016 RCV002244260 RCV002250279 RCV002250280 RCV002273277 RCV002274454 RCV002289260 RCV002291188 RCV003142480 RCV003149137 RCV005429011 RCV003883999 RCV003883267 RCV003986000 RCV003990065 RCV004018022 RCV004595390 RCV005869409 RCV000415139 RCV001253445 RCV000735802 RCV000495893 RCV000578200 RCV001783079 RCV000622629 RCV001824846 RCV000656527 RCV000709921 RCV000735798 RCV000735799 RCV000735800 RCV000735801 RCV000825004 RCV000985093 RCV000988122 RCV001192879 RCV001249668 RCV001252601 RCV001252600 RCV001252602 RCV001254174 RCV001267730 RCV000077784
CHARGE syndrome	Likely pathogenic; Pathogenic	rs1554643584	RCV001034553
Intellectual disability	Pathogenic	rs1816565787	RCV005626402
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	Pathogenic	rs2130231971, rs2538860687, rs758941113, rs2538896067, rs1816618311	RCV003492745 RCV003492754 RCV003493285 RCV003493286 RCV003985841
Neurodevelopmental abnormality	Pathogenic	rs1816304706	RCV001264671
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	Likely pathogenic	rs1816345861	RCV001293637
PUF60-related disorder	Pathogenic	rs1816304706	RCV003983867
See cases	Pathogenic	rs1563819620	RCV003156132

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Syndromic intellectual disability	Likely benign	rs753923608	RCV005359657

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	34794751
Adenocarcinoma of Lung	Stimulate	37682709
Aksu von Stockhausen syndrome	Associate	27804958
Aortic Aneurysm Abdominal	Associate	27157464
Breast Neoplasms	Associate	32964046, 32965163, 36497066
Carcinogenesis	Associate	39781520
Carcinoma Renal Cell	Associate	33061812
Coloboma	Associate	28327570
Colorectal Neoplasms	Associate	22496461, 23594796, 27756887, 30980774
Craniofacial Abnormalities	Associate	27804958, 28327570
Daneman Davy Mancer syndrome	Associate	27804958
Deafness Craniofacial Syndrome	Associate	28327570
Dermatomyositis	Associate	27756887, 30980774
Developmental Disabilities	Associate	27804958, 28327570
Esophageal Squamous Cell Carcinoma	Associate	30980774
Facial Hypertrichosis	Associate	28327570
Fused Kidney	Associate	28327570
Glioblastoma	Associate	36932454
Growth Disorders	Associate	27804958, 28327570, 30352594
Hand Injuries	Associate	28327570
Heart Defects Congenital	Associate	27804958, 28327570
Heart Diseases	Associate	27804958
Hypereosinophilic Syndrome	Associate	26497854
Immunologic Deficiency Syndromes	Associate	29788428
Intellectual Disability	Associate	27804958, 28990276, 29788428, 30352594
Joint Instability	Associate	27804958
Lung Neoplasms	Associate	37682709
Microcephaly	Associate	27804958, 28327570
Micrognathism	Associate	28327570
Microphthalmia Isolated with Coloboma 2	Associate	33418956
Microphthalmos	Associate	27804958, 33418956
Neoplasms	Inhibit	26497854
Neoplasms	Associate	29606096, 30980774, 32965163, 36932454, 38139171, 39781520
Neoplasms	Stimulate	37682709
Optic Nerve Hypoplasia	Associate	27804958
Ovarian Neoplasms	Associate	20386695
Retinitis	Associate	27804958
Sjogren's Syndrome	Associate	27756887, 30980774
Solitary Kidney	Associate	28327570
Spinal Muscular Atrophy Segmental	Associate	28327570
Spondylocostal dysostosis autosomal recessive	Associate	27804958
Stomach Neoplasms	Associate	22559327, 39781520
Thakker Donnai syndrome	Associate	30352594

PUF60 (poly(U) binding splicing factor 60)