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	24148
Gene name	Pre-mRNA processing factor 6
Gene symbol	PRPF6
Synonyms (NCBI Gene)	ANT-1ANT1C20orf14Prp6RP60SNRNP102TOMU5-102KhPrp6
Chromosome	20
Chromosome location	20q13.33
Summary	The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between t

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41278234	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387907100	C>A,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs527236096	G>C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (84)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046285	hsa-miR-23b-3p	CLASH	23622248
MIRT045630	hsa-miR-149-5p	CLASH	23622248
MIRT036513	hsa-miR-1226-3p	CLASH	23622248
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT671227	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT671227	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT633331	hsa-miR-6750-3p	HITS-CLIP	23824327
MIRT633330	hsa-miR-4798-3p	HITS-CLIP	23824327
MIRT633329	hsa-miR-4746-3p	HITS-CLIP	23824327
MIRT633328	hsa-miR-4284	HITS-CLIP	23824327
MIRT633327	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT633326	hsa-miR-4466	HITS-CLIP	23824327
MIRT633325	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT633324	hsa-miR-7977	HITS-CLIP	23824327
MIRT2078163	hsa-miR-1197	CLIP-seq
MIRT2078164	hsa-miR-1233	CLIP-seq
MIRT2078165	hsa-miR-1252	CLIP-seq
MIRT2078166	hsa-miR-129-3p	CLIP-seq
MIRT2078167	hsa-miR-3173-3p	CLIP-seq
MIRT2078168	hsa-miR-3692	CLIP-seq
MIRT2078169	hsa-miR-4462	CLIP-seq
MIRT2078170	hsa-miR-548ac	CLIP-seq
MIRT2078171	hsa-miR-548ae	CLIP-seq
MIRT2078172	hsa-miR-548aj	CLIP-seq
MIRT2078173	hsa-miR-548am	CLIP-seq
MIRT2078174	hsa-miR-548d-3p	CLIP-seq
MIRT2078175	hsa-miR-548x	CLIP-seq
MIRT2078176	hsa-miR-548z	CLIP-seq
MIRT2078163	hsa-miR-1197	CLIP-seq
MIRT2078164	hsa-miR-1233	CLIP-seq
MIRT2078165	hsa-miR-1252	CLIP-seq
MIRT2078166	hsa-miR-129-3p	CLIP-seq
MIRT2304628	hsa-miR-3136-3p	CLIP-seq
MIRT2078167	hsa-miR-3173-3p	CLIP-seq
MIRT2078168	hsa-miR-3692	CLIP-seq
MIRT2078169	hsa-miR-4462	CLIP-seq
MIRT2078170	hsa-miR-548ac	CLIP-seq
MIRT2078171	hsa-miR-548ae	CLIP-seq
MIRT2078172	hsa-miR-548aj	CLIP-seq
MIRT2078173	hsa-miR-548am	CLIP-seq
MIRT2078174	hsa-miR-548d-3p	CLIP-seq
MIRT2078175	hsa-miR-548x	CLIP-seq
MIRT2078176	hsa-miR-548z	CLIP-seq
MIRT2078165	hsa-miR-1252	CLIP-seq
MIRT2078167	hsa-miR-3173-3p	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IBA
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IC	10788320
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IDA	20118938
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	IMP	15257298
GO:0000245	Process	Spliceosomal complex assembly	NAS	10788320
GO:0000375	Process	RNA splicing, via transesterification reactions	NAS	10788320
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	10788320, 11991638, 15257298
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	21549338, 28781166
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	30975767
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IDA	20797886
GO:0005515	Function	Protein binding	IPI	12620389, 15840814, 16723661, 17332742, 22365833, 27173435, 28514442, 33961781, 34316702, 35271311, 35709258, 39251607
GO:0005634	Component	Nucleus	IDA	16414017, 28781166
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	30975767
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767
GO:0005681	Component	Spliceosomal complex	NAS	10788320
GO:0005682	Component	U5 snRNP	IDA	10788320
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006396	Process	RNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006403	Process	RNA localization	IMP	20797886
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	NAS	10788320
GO:0016020	Component	Membrane	HDA	19946888
GO:0016607	Component	Nuclear speck	IDA	21549338
GO:0016607	Component	Nuclear speck	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	20118938
GO:0036064	Component	Ciliary basal body	IDA
GO:0042802	Function	Identical protein binding	IPI	16723661
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	10788320
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16414017
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IBA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	10788320
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
613979	15860	ENSG00000101161

O94906

Protein name

Pre-mRNA-processing factor 6 (Androgen receptor N-terminal domain-transactivating protein 1) (ANT-1) (PRP6 homolog) (U5 snRNP-associated 102 kDa protein) (U5-102 kDa protein)

Protein function

Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:20118938, PubMed:21549338, PubMed:28781166). Enhances dihydrotestosterone-induced transactivation activity of AR,

PDB

3JCR , 5O9Z , 6AH0 , 6AHD , 6QW6 , 6QX9 , 8H6E , 8H6J , 8H6K , 8H6L , 8Q7N , 8Q7Q , 8Q7V , 8Q7W , 8Q7X , 8Q91 , 8QO9 , 8QOZ , 8QP8 , 8QP9 , 8QPA , 8QPB , 8QPE , 8QPK , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RC0 , 8RM5 , 8Y6O

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06424	PRP1_N	13 → 169	PRP1 splicing factor, N-terminal	Domain
PF13181	TPR_8	709 → 740	Tetratricopeptide repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12039962}.

Sequence

MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQM
KKNQAADDDDEDLNDTNYDEFNGYAGSLFSSGPYEKDDEEADAIYAALDKRMDERRKERR
EQREKEEIEKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLT
PVPDSFFAKHLQTGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGGMTPGLMTPGTGELDM
RKIGQARNTLMDMRLSQVSDSVSGQTVVDPKGYLTDLNSMIPTHGGDINDIKKARLLLKS
VRETNPHHPPAWIASARLEEVTGKLQVARNLIMKGTEMCPKSEDVWLEAARLQPGDTAKA
VVAQAVRHLPQSVRIYIRAAELETDIRAKKRVLRKALEHVPNSVRLWKAAVELEEPEDAR
IMLSRAVECCPTSVELWLALARLETYENARKVLNKARENIPTDRHIWITAAKLEEANGNT
QMVEKIIDRAITSLRANGVEINREQWIQDAEECDRAGSVATCQAVMRAVIGIGIEEEDRK
HTWMEDADSCVAHNALECARAIYAYALQVFPSKKSVWLRAAYFEKNHGTRESLEALLQRA
VAHCPKAEVLWLMGAKSKWLAGDVPAARSILALAFQANPNSEEIWLAAVKLESENDEYER
ARRLLAKARSSAPTARVFMKSVKLEWVQDNIRAAQDLCEEALRHYEDFPKLWMMKGQIEE
QKEMMEKAREAYNQGLKKCPHSTPLWLLLSRLEEKIGQLTRARAILEKSRLKNPKNPGLW
LESVRLEYRAGLKNIANTLMAKALQECPNSGILWSEAIFLEARPQRRTKSVDALKKCEHD
PHVLLAVAKLFWSQRKITKAREWFHRTVKIDSDLGDAWAFFYKFELQHGTEEQQEEVRKR
CESAEPRHGELWCAVSKDIANWQKKIGDILRLVAGRIKNTF

Sequence length

941

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway

153

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinal dystrophy	Likely pathogenic	rs2517639832	RCV003890424
Retinitis pigmentosa	Likely pathogenic	rs527236096	RCV000132667

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs113298469, rs188621942	RCV005897476 RCV005905001
Cervical cancer	Benign	rs113298469	RCV005897478
Familial cancer of breast	Benign	rs190449971, rs188621942	RCV005903141 RCV005905000
Lung cancer	Benign	rs113298469	RCV005897479
Malignant tumor of esophagus	Benign	rs113298469	RCV005897477
PRPF6-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs151262895, rs773455692, rs181407049, rs1035955697, rs571120972, rs751636573, rs2517635340, rs61736634, rs201984924, rs139156198, rs138336365, rs370451981, rs201213073, rs11553191, rs190449971, rs377444836 View all (1 more)	RCV003966030 RCV003908765 RCV003931126 RCV003911207 RCV003913776 RCV003901890 RCV003903834 RCV003950175 RCV003932358 RCV003967972 RCV004757310 RCV003968288 RCV003923220 RCV003942835 RCV003903059 RCV003905806
Retinitis pigmentosa 60	Uncertain significance; Benign	rs765346207, rs34062309, rs387907100, rs1037019727, rs2059216772, rs2059240399, rs149771221, rs376567998, rs2059135246	RCV001376447 RCV002502310 RCV000024084 RCV000990343 RCV001198278 RCV001196256 RCV001196069 RCV001196383 RCV001253079
Retinitis Pigmentosa, Dominant	Likely benign; Uncertain significance	rs115265032, rs553841583, rs886056962	RCV000366597 RCV000309534 RCV000324249
Uterine corpus endometrial carcinoma	Benign	rs113298469, rs190449971	RCV005897480 RCV005903142

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	23874428, 37079368
Autoimmune Diseases	Inhibit	35547734
Colorectal Neoplasms	Associate	23341073
Inflammation	Inhibit	35547734
Leukemia Myeloid Acute	Associate	29253671
Lung Neoplasms	Associate	28304396, 37079368
Lupus Nephritis	Associate	35547734
Neoplasm Metastasis	Associate	37303939
Neoplasms	Associate	23341073, 24788092, 33390843
Neuronal Ceroid Lipofuscinoses	Associate	22235333
Ovarian Neoplasms	Associate	37303939
Prostatic Neoplasms	Associate	33390843
Prostatic Neoplasms Castration Resistant	Associate	33390843
Restless Legs Syndrome	Associate	32651461
Retinal Degeneration	Associate	32335390, 39423676
Retinal Diseases	Associate	39423676
Retinitis Pigmentosa	Associate	21549338, 22235333, 32335390, 36012314, 36103774, 39423676
Vision Disorders	Associate	22235333

PRPF6 (pre-mRNA processing factor 6)