PUF60 - poly(U) binding splicing factor 60 Gene

Also Known as FIR; VRJS; RoBPI; SIAHBP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22827

About PUF60

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:143,816,344-143,829,315 (from NCBI)

This gene has 32 transcripts (splice variants), 1 gene allele, 265 orthologues, 24 paralogues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 18.5), testis (RPKM 17.6) and 25 other tissues.

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 protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

PUF60 Products (11)

mRNA	Protein	Name
NM_001136033.3	NP_001129505.1	poly(U)-binding-splicing factor PUF60 isoform c
NM_001271096.2	NP_001258025.1	poly(U)-binding-splicing factor PUF60 isoform d
NM_001271097.2	NP_001258026.1	poly(U)-binding-splicing factor PUF60 isoform e
NM_001271098.2	NP_001258027.1	poly(U)-binding-splicing factor PUF60 isoform f
NM_001271099.2	NP_001258028.1	poly(U)-binding-splicing factor PUF60 isoform g
NM_001271100.2	NP_001258029.1	poly(U)-binding-splicing factor PUF60 isoform h
NM_001362895.2	NP_001349824.1	poly(U)-binding-splicing factor PUF60 isoform i
NM_001362896.2	NP_001349825.1	poly(U)-binding-splicing factor PUF60 isoform i
NM_001362897.2	NP_001349826.1	poly(U)-binding-splicing factor PUF60 isoform j
NM_014281.5	NP_055096.2	poly(U)-binding-splicing factor PUF60 isoform b
NM_078480.3	NP_510965.1	poly(U)-binding-splicing factor PUF60 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16169070	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PUF60 Protein Structure

RRM_1

0
100
200
300
400
500
559 a.a.

Protein Preferred Names	Protein Names
poly(U)-binding-splicing factor PUF60	FBP interacting repressor

PUF60 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	PUF60	Q9UHX1	UBE2I	Homo sapiens	Q7KZS0	Y2H Prey Pooling	25416956
Intra	PUF60	Q9UHX1	UBE2I	Homo sapiens	Q7KZS0	Y2H Array	25416956
Intra	PUF60	Q9UHX1	SRSF11	Homo sapiens	Q05519	Y2H Prey Pooling	25416956
Intra	PUF60	Q9UHX1	SRSF11	Homo sapiens	Q05519	Anti Bait CoIP	17353931
Intra	PUF60	Q9UHX1	SRSF11	Homo sapiens	Q05519	Y2H Array	25416956
Intra	PUF60	Q9UHX1	SRSF11	Homo sapiens	Q05519	Anti Tag CoIP	33961781
Intra	PUF60	Q9UHX1	SRSF11	Homo sapiens	Q05519	MAPPIT	25416956
Intra	PUF60	Q9UHX1	U2AF2	Homo sapiens	P26368	Validated Y2H	25416956
Intra	PUF60	Q9UHX1	U2AF2	Homo sapiens	P26368	Y2H	22365833
Intra	PUF60	Q9UHX1	U2AF2	Homo sapiens	P26368	Y2H Array	25416956
Intra	PUF60	Q9UHX1	SAP30BP	Homo sapiens	Q9UHR5	Lumier	32814053
Intra	PUF60	Q9UHX1	U2AF2	Homo sapiens	P26368	Y2H Prey Pooling	25416956
Intra	PUF60	Q9UHX1	U2AF2	Homo sapiens	P26368	Anti Bait CoIP	17353931
Intra	PUF60	Q9UHX1	SAP30BP	Homo sapiens	Q9UHR5	Y2H	18255255
Intra	PUF60	Q9UHX1	SAP30BP	Homo sapiens	Q9UHR5	Y2H	21516116
Intra	PUF60	Q9UHX1	ARGLU1	Homo sapiens	Q9NWB6	Anti Tag CoIP	33961781
Intra	PUF60	Q9UHX1	CCNC	Homo sapiens	P24863	Validated Y2H	25416956
Intra	PUF60	Q9UHX1	CCNC	Homo sapiens	P24863	Y2H Array	25416956
Intra	PUF60	Q9UHX1	CCNC	Homo sapiens	P24863	Y2H Prey Pooling	25416956
Intra	PUF60	Q9UHX1	ARL8A	Homo sapiens	Q96BM9	Y2H Prey Pooling	25416956
Intra	PUF60	Q9UHX1	MED28	Homo sapiens	Q9H204	Y2H Prey Pooling	25416956
Intra	PUF60	Q9UHX1	MED28	Homo sapiens	Q9H204	Validated Y2H	25416956
Intra	PUF60	Q9UHX1	IQCN	Homo sapiens	Q9H0B3	Validated Y2H	25416956
Intra	PUF60	Q9UHX1	IQCN	Homo sapiens	Q9H0B3	Y2H Array	25416956
Intra	PUF60	Q9UHX1	ZG16	Homo sapiens	O60844	Validated Y2H	25416956
Intra	PUF60	Q9UHX1	ZG16	Homo sapiens	O60844	Y2H Array	25416956
Intra	PUF60	Q9UHX1	SIAH1	Homo sapiens	Q8IUQ4	Y2H	21516116
Intra	PUF60	Q9UHX1	SIAH1	Homo sapiens	Q8IUQ4	Y2H Array	25416956
Intra	PUF60	Q9UHX1	BORCS5	Homo sapiens	Q969J3	Y2H Pooling	16189514
Intra	PUF60	Q9UHX1	KHDC4	Homo sapiens	Q7Z7F0	Y2H Prey Pooling	25416956
Intra	PUF60	Q9UHX1	KHDC4	Homo sapiens	Q7Z7F0	Validated Y2H	25416956
Intra	PUF60	Q9UHX1	KHDC4	Homo sapiens	Q7Z7F0	Y2H Array	25416956
Intra	PUF60	Q9UHX1	CACNA1A	Homo sapiens	O00555	Y2H	21078624
Intra	PUF60	Q9UHX1	CACNA1A	Homo sapiens	O00555	Pull Down	21078624
Intra	PUF60	Q9UHX1	PCBP1	Homo sapiens	Q15365	Y2H	16713569
Intra	PUF60	Q9UHX1	RAD23B	Homo sapiens	P54727	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Verheij Syndrome	Chromosome 8q24.3 Deletion Syndrome 8q24.3 Microdeletion Syndrome VRJS Del(8)(Q24.3) Deletion 8q24.3 Monosomy 8q24.3 Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	NEDHIB
Xeroderma Pigmentosum, Complementation Group B	Xeroderma Pigmentosum Group B Xeroderma Pigmentosum, Group B XPB Xpbc Xp Group B Xp, Group B Xeroderma Pigmentosum Complementation Group B XP-B Xeroderma Pigmentosum Group B With Cockayne Syndrome Xeroderma Pigmentosum Ii Xp2 Xp-B/Cs
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Tarp Syndrome	TARPS Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava Pierre Robin Sequence - Congenital Heart Defect - Talipes Pierre Robin Syndrome - Congenital Heart Defect - Talipes Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava
Optic Nerve Hypoplasia, Bilateral	Optic Nerve Hypoplasia Bilateral Optic Nerve Hypoplasia Optic Nerve Hypoplasia, Familial Bilateral Familial Bilateral Optic Nerve Hypoplasia Isolated Optic Nerve Hypoplasia/Aplasia Optic Nerve Aplasia, Bilateral Onh BONH Bilateral Optic Nerve Aplasia Hypoplasia, Optic Nerve, Bilateral
Developmental And Epileptic Encephalopathy 1	Epileptic Encephalopathy, Early Infantile, 1 Infantile Epileptic-Dyskinetic Encephalopathy DEE1 Eiee1 Issx1 Xmesid X-Linked Infantile Spasm Syndrome 1 X-Linked Infantile Spasm Syndrome X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome Developmental And Epileptic Encephalopathy, 1 Infantile Epileptic Dyskinetic Encephalopathy Infantile Spasm Syndrome, X-Linked 1 West Syndrome, X-Linked Ohtahara Syndrome, X-Linked Early Infantile Epileptic Encephalopathy 1 Early Infantile Epileptic Encephalopathy-1 Issx X-Linked Ohtahara Syndrome X-Linked West Syndrome Infantile Spasm Syndrome X-Linked 1 Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity Ohtahara Syndrome X-Linked West Syndrome X-Linked Encephalopathy, Epileptic, Early Infantile, Type 1
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS11460	PUF60 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22755	Puf60 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PUF60	VGNC	VGNC:84106
Felis catus	PUF60	VGNC	VGNC:81707
Bos taurus	PUF60	VGNC	VGNC:53878
Rattus norvegicus	PUF60	RGD	RGD:621674
Mus musculus	PUF60	MGD	MGI:1915209
Canis familiaris	PUF60	VGNC	VGNC:51779
Others	PUF60	NCBI