Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
63935
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphorylated CTD interacting factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCIF1
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf67, CAPAM, MT-A70, PPP1R121, hCAPAM, hPCIF1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 18294453, 31279659
GO:0005654 Component Nucleoplasm IDA
GO:0006417 Process Regulation of translation IDA 31279658
GO:0010923 Process Negative regulation of phosphatase activity IDA 19389623
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618626 16200 ENSG00000100982
Protein
UniProt ID 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
YYFNRFTNQSLWEMP
VLGQHDVISDPLGLNATPLPQDSSLVETPPAENKPRKRQLSEEQP
SGNGVKKPKIEIPVTPTGQSVPSSPSIPGTPTLKMWGTSPEDKQQAALLRPTEVYWDLDI
QTNAVIKHRGPSEVLPPHPEVELLRSQLILKLRQHYRELCQQREGIEPPRESFNRWMLER
KVVDKGSDPLLPSNCEPVVSPSMFREIMNDIPIRLSRIKFREEAKRLLFKYAEAARRLIE
SRSASPDSRKVVKWNVEDTFSWLRKDHSASKEDYMDRLEHLRRQCGPHVSAAAKDSVEGI
CSKIYHISLEYVKRIREKHLAILKENNISEEVEAPEVEPRLVYCYPVRLAVSAPPMPSVE
MHMENNVVCIRYKGEMVKVSRNYFSKLWLLYRYSCIDDSAFERFLPRVWCLLRRYQMMFG
VGLYEGTGLQGSLPVHVFEALHRLFGVSFECFASPLNCYFRQYCSAFPDTDGYFGSRGPC
LDFAPLSGSFEANPPFCEELMDAMVSHFERLLESSPEPLSFIVFIPEWREPPTPALTRME
QSRFKRHQLILPAFEHEYRSG
SQHICKKEEMHYKAVHNTAVLFLQNDPGFAKWAPTPERL
QELSAAYRQSGRSHSSGSSSSSSSEAKDRDSGREQGPSREPHPT
Sequence length 704
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aortic aneurysm Aortic Aneurysm, Abdominal rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953
View all (29 more)
27899403
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 21347282 ClinVar
Metabolic Syndrome Metabolic Syndrome GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
COVID 19 Associate 36689652
Diabetic Nephropathies Associate 23555584
Dyslipidemias Associate 23555584
HIV Infections Inhibit 34545078
Infections Associate 36689652
Virus Diseases Associate 36689652