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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	63935
Gene name	Phosphorylated CTD interacting factor 1
Gene symbol	PCIF1
Synonyms (NCBI Gene)	C20orf67CAPAMMT-A70PPP1R121hCAPAMhPCIF1
Chromosome	20
Chromosome location	20q13.12

Show/Hide all (75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052546	hsa-let-7a-5p	CLASH	23622248
MIRT1217742	hsa-miR-1275	CLIP-seq
MIRT1217743	hsa-miR-1908	CLIP-seq
MIRT1217744	hsa-miR-3180	CLIP-seq
MIRT1217745	hsa-miR-3180-3p	CLIP-seq
MIRT1217746	hsa-miR-3184	CLIP-seq
MIRT1217747	hsa-miR-3196	CLIP-seq
MIRT1217748	hsa-miR-3199	CLIP-seq
MIRT1217749	hsa-miR-3686	CLIP-seq
MIRT1217750	hsa-miR-3688-5p	CLIP-seq
MIRT1217751	hsa-miR-3910	CLIP-seq
MIRT1217752	hsa-miR-423-5p	CLIP-seq
MIRT1217753	hsa-miR-4425	CLIP-seq
MIRT1217754	hsa-miR-4436a	CLIP-seq
MIRT1217755	hsa-miR-4652-3p	CLIP-seq
MIRT1217756	hsa-miR-4665-5p	CLIP-seq
MIRT1217757	hsa-miR-4710	CLIP-seq
MIRT1217758	hsa-miR-4711-5p	CLIP-seq
MIRT1217759	hsa-miR-4742-3p	CLIP-seq
MIRT1217760	hsa-miR-4747-5p	CLIP-seq
MIRT1217761	hsa-miR-4802-3p	CLIP-seq
MIRT1217762	hsa-miR-635	CLIP-seq
MIRT1217763	hsa-miR-663	CLIP-seq
MIRT1217764	hsa-miR-890	CLIP-seq
MIRT1217748	hsa-miR-3199	CLIP-seq
MIRT2062949	hsa-miR-3201	CLIP-seq
MIRT2062950	hsa-miR-3646	CLIP-seq
MIRT1217751	hsa-miR-3910	CLIP-seq
MIRT2062951	hsa-miR-4268	CLIP-seq
MIRT2062952	hsa-miR-4283	CLIP-seq
MIRT2062953	hsa-miR-432	CLIP-seq
MIRT1217753	hsa-miR-4425	CLIP-seq
MIRT1217754	hsa-miR-4436a	CLIP-seq
MIRT2062954	hsa-miR-4443	CLIP-seq
MIRT2062955	hsa-miR-4489	CLIP-seq
MIRT1217758	hsa-miR-4711-5p	CLIP-seq
MIRT1217759	hsa-miR-4742-3p	CLIP-seq
MIRT1217760	hsa-miR-4747-5p	CLIP-seq
MIRT2062956	hsa-miR-4791	CLIP-seq
MIRT1217761	hsa-miR-4802-3p	CLIP-seq
MIRT2062957	hsa-miR-494	CLIP-seq
MIRT2062958	hsa-miR-520d-5p	CLIP-seq
MIRT2062959	hsa-miR-524-5p	CLIP-seq
MIRT2062960	hsa-miR-624	CLIP-seq
MIRT1217764	hsa-miR-890	CLIP-seq
MIRT2291363	hsa-miR-1207-5p	CLIP-seq
MIRT2291364	hsa-miR-1321	CLIP-seq
MIRT2291365	hsa-miR-3144-5p	CLIP-seq
MIRT2291366	hsa-miR-3191	CLIP-seq
MIRT1217751	hsa-miR-3910	CLIP-seq
MIRT2291367	hsa-miR-4270	CLIP-seq
MIRT1217754	hsa-miR-4436a	CLIP-seq
MIRT2291368	hsa-miR-4441	CLIP-seq
MIRT2291369	hsa-miR-4514	CLIP-seq
MIRT2291370	hsa-miR-4652-5p	CLIP-seq
MIRT2291371	hsa-miR-4692	CLIP-seq
MIRT1217758	hsa-miR-4711-5p	CLIP-seq
MIRT2291372	hsa-miR-4728-5p	CLIP-seq
MIRT2291373	hsa-miR-4739	CLIP-seq
MIRT2291374	hsa-miR-4756-5p	CLIP-seq
MIRT2291375	hsa-miR-4763-3p	CLIP-seq
MIRT2291376	hsa-miR-939	CLIP-seq
MIRT2291377	hsa-miR-940	CLIP-seq
MIRT1217743	hsa-miR-1908	CLIP-seq
MIRT1217744	hsa-miR-3180	CLIP-seq
MIRT1217745	hsa-miR-3180-3p	CLIP-seq
MIRT1217746	hsa-miR-3184	CLIP-seq
MIRT1217747	hsa-miR-3196	CLIP-seq
MIRT1217750	hsa-miR-3688-5p	CLIP-seq
MIRT1217752	hsa-miR-423-5p	CLIP-seq
MIRT1217753	hsa-miR-4425	CLIP-seq
MIRT1217757	hsa-miR-4710	CLIP-seq
MIRT2588887	hsa-miR-4761-5p	CLIP-seq
MIRT2062960	hsa-miR-624	CLIP-seq
MIRT1217763	hsa-miR-663	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18294453, 31279659
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006397	Process	MRNA processing	IDA	30467178, 30487554, 31279658, 31279659, 33428944
GO:0006417	Process	Regulation of translation	IDA	31279658
GO:0008168	Function	Methyltransferase activity	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016422	Function	MRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	IDA	30467178, 30487554, 31279658, 31279659, 32814042, 33428944
GO:0016422	Function	MRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017148	Process	Negative regulation of translation	IDA	31279659
GO:0032259	Process	Methylation	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045727	Process	Positive regulation of translation	IMP	30467178
GO:0099122	Function	RNA polymerase II C-terminal domain binding	IDA	18294453, 30467178
GO:0099122	Function	RNA polymerase II C-terminal domain binding	IEA
GO:1904047	Function	S-adenosyl-L-methionine binding	IDA	30467178
GO:1990269	Function	RNA polymerase II C-terminal domain phosphoserine binding	IDA	32814042

MIM	HGNC	e!Ensembl
618626	16200	ENSG00000100982

Q9H4Z3

Protein name

mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase (EC 2.1.1.62) (Cap-specific adenosine methyltransferase) (CAPAM) (hCAPAM) (Phosphorylated CTD-interacting factor 1) (hPCIF1) (Protein phosphatase 1 regulatory subunit 121)

Protein function

Cap-specific adenosine methyltransferase that catalyzes formation of N(6),2'-O-dimethyladenosine cap (m6A(m)) by methylating the adenosine at the second transcribed position of capped mRNAs (PubMed:30467178, PubMed:30487554, PubMed:31279658, Pub

PDB

2JX8 , 6IRV , 6IRW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00397	WW	45 → 75	WW domain	Domain
PF12237	PCIF1_WW	446 → 621	Phosphorylated CTD interacting factor 1 WW domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12565871}.

Sequence

MANENHGSPREEASLLSHSPGTSNQSQPCSPKPIRLVQDLPEELVHAGWEKCWSRRENRP
YYFNRFTNQSLWEMPVLGQHDVISDPLGLNATPLPQDSSLVETPPAENKPRKRQLSEEQP
SGNGVKKPKIEIPVTPTGQSVPSSPSIPGTPTLKMWGTSPEDKQQAALLRPTEVYWDLDI
QTNAVIKHRGPSEVLPPHPEVELLRSQLILKLRQHYRELCQQREGIEPPRESFNRWMLER
KVVDKGSDPLLPSNCEPVVSPSMFREIMNDIPIRLSRIKFREEAKRLLFKYAEAARRLIE
SRSASPDSRKVVKWNVEDTFSWLRKDHSASKEDYMDRLEHLRRQCGPHVSAAAKDSVEGI
CSKIYHISLEYVKRIREKHLAILKENNISEEVEAPEVEPRLVYCYPVRLAVSAPPMPSVE
MHMENNVVCIRYKGEMVKVSRNYFSKLWLLYRYSCIDDSAFERFLPRVWCLLRRYQMMFG
VGLYEGTGLQGSLPVHVFEALHRLFGVSFECFASPLNCYFRQYCSAFPDTDGYFGSRGPC
LDFAPLSGSFEANPPFCEELMDAMVSHFERLLESSPEPLSFIVFIPEWREPPTPALTRME
QSRFKRHQLILPAFEHEYRSGSQHICKKEEMHYKAVHNTAVLFLQNDPGFAKWAPTPERL
QELSAAYRQSGRSHSSGSSSSSSSEAKDRDSGREQGPSREPHPT

Sequence length

704

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aortic Aneurysm, Abdominal	Aortic Aneurysm	GWASCAT_DG	27899403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31680049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26009633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26009633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	23555584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	23555584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PCIF1 (phosphorylated CTD interacting factor 1)