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Gene Gene information from NCBI Gene database.
Entrez ID 11052
Gene name Cleavage and polyadenylation specific factor 6
Gene symbol CPSF6
Synonyms (NCBI Gene)
CFIMCFIM68CFIM72HPBRII-4HPBRII-7
Chromosome 12
Chromosome location 12q15
Summary The protein encoded by this gene is one subunit of a cleavage factor required for 3` RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3` end processing complex and
miRNA miRNA information provided by mirtarbase database.
1104 Show/Hide all (1104)
miRTarBase ID miRNA Experiments Reference
MIRT024266 hsa-miR-215-5p Microarray 19074876
MIRT026674 hsa-miR-192-5p Microarray 19074876
MIRT049065 hsa-miR-92a-3p CLASH 23622248
MIRT609721 hsa-miR-8485 HITS-CLIP 23313552
MIRT609720 hsa-miR-329-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36 Show/Hide all (36)
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IDA 15169763
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604979 13871 ENSG00000111605
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16630
Protein name Cleavage and polyadenylation specificity factor subunit 6 (Cleavage and polyadenylation specificity factor 68 kDa subunit) (CPSF 68 kDa subunit) (Cleavage factor Im complex 68 kDa subunit) (CFIm68) (Pre-mRNA cleavage factor Im 68 kDa subunit) (Protein HPB
Protein function Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:14690600, PubMed:29276085, Pub
PDB 3P5T , 3P6Y , 3Q2S , 3Q2T , 4B4N , 4U0A , 4U0B , 4WYM , 6AY9 , 6GX9 , 7SNQ , 7ZUD , 8CL1 , 8EJL , 8GDV , 9CNV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 83 → 154 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MADGVDHIDIYADVGEEFNQEAEYGGHDQIDLYDDVISPSANNGDAPEDRDYMDTLPPTV
GDDVGKGAAPNVVYTYTGKRIALYIGNLTWWTTDEDLTEAVHSLGVNDILEIKFFENRAN
GQSKGFALVGVGSEASSKKLMDLLPKRELHGQNP
VVTPCNKQFLSQFEMQSRKTTQSGQM
SGEGKAGPPGGSSRAAFPQGGRGRGRFPGAVPGGDRFPGPAGPGGPPPPFPAGQTPPRPP
LGPPGPPGPPGPPPPGQVLPPPLAGPPNRGDRPPPPVLFPGQPFGQPPLGPLPPGPPPPV
PGYGPPPGPPPPQQGPPPPPGPFPPRPPGPLGPPLTLAPPPHLPGPPPGAPPPAPHVNPA
FFPPPTNSGMPTSDSRGPPPTDPYGRPPPYDRGDYGPPGREMDTARTPLSEAEFEEIMNR
NRAISSSAISRAVSDASAGDYGSAIETLVTAISLIKQSKVSADDRCKVLISSLQDCLHGI
ESKSYGSGSRRERSRERDHSRSREKSRRHKSRSRDRHDDYYRERSRERERHRDRDRDRDR
ERDREREYRHR
Sequence length 551
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
mRNA surveillance pathway Signaling by cytosolic FGFR1 fusion mutants
Viral life cycle - HIV-1 Signaling by FGFR1 in disease
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
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.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME — GWAS catalog 35332129
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONTRACTURE — GWAS catalog 40465716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE — GWAS catalog 27770636
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog 20673876
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (8)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 28673861
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36446361 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34217312 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis GWASCAT_DG 30664745
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 29891591 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Li-Fraumeni Syndrome Li-Fraumeni Syndrome BEFREE 28053162
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 28673861
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 26853146
★★★★★
★☆☆☆☆
Found in Text Mining only