Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9150
Gene name Gene Name - the full gene name approved by the HGNC.
CTD phosphatase subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTDP1
Synonyms (NCBI Gene) Gene synonyms aliases
CCFDN, FCP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CCFDN
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs113994102 C>T Pathogenic Intron variant
rs146831211 G>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs1403055370 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017032 hsa-miR-335-5p Microarray 18185580
MIRT052631 hsa-let-7a-5p CLASH 23622248
MIRT051717 hsa-let-7d-5p CLASH 23622248
MIRT041328 hsa-miR-193b-3p CLASH 23622248
MIRT914073 hsa-miR-1287 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IDA 22692537
GO:0001096 Function TFIIF-class transcription factor complex binding IPI 12732728, 15723517
GO:0004721 Function Phosphoprotein phosphatase activity TAS
GO:0005515 Function Protein binding IPI 9765293, 12732728
GO:0005634 Component Nucleus IDA 15723517
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604927 2498 ENSG00000060069
Protein
UniProt ID Q9Y5B0
Protein name RNA polymerase II subunit A C-terminal domain phosphatase (EC 3.1.3.16) (TFIIF-associating CTD phosphatase)
Protein function Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosph
PDB 1J2X , 1ONV , 2K7L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03031 NIF 183 331 NLI interacting factor-like phosphatase Family
PF09309 FCP1_C 716 961 FCP1, C-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:9765293}.
Sequence
MEVPAAGRVPAEGAPTAAVAEVRCPGPAPLRLLEWRVAAGAAVRIGSVLAVFEAAASAQS
SGASQSRVASGGCVRPARPERRLRSERAGVVRELCAQPGQVVAPGAVLVRLEGCSHPVVM
KGLCAECGQDLTQLQSKNGKQQVPLSTATVSMVHSVPELMVSSEQAEQLGREDQQRLHRN
RKLVLMVDLDQTLIHTTEQHCQQMSNKGIFHFQLGRGEPMLHTRLRPHCKDFLEKIAKLY
ELHVFTFGSRLYAHTIAGFLDPEKKLFSHRILSRDECIDPFSKTGNLRNLFPCGDSMVCI
IDDREDVWKFAPNLITVKKYVYFQGTGDMNA
PPGSRESQTRKKVNHSRGTEVSEPSPPVR
DPEGVTQAPGVEPSNGLEKPARELNGSEAATPRDSPRPGKPDERDIWPPAQAPTSSQELA
GAPEPQGSCAQGGRVAPGQRPAQGATGTDLDFDLSSDSESSSESEGTKSSSSASDGESEG
KRGRQKPKAAPEGAGALAQGSSLEPGRPAAPSLPGEAEPGAHAPDKEPELGGQEEGERDG
LCGLGNGCADRKEAETESQNSELSGVTAGESLDQSMEEEEEEDTDEDDHLIYLEEILVRV
HTDYYAKYDRYLNKEIEEAPDIRKIVPELKSKVLADVAIIFSGLHPTNFPIEKTREHYHA
TALGAKILTRLVLSPDAPDRATHLIAARAGTEKVLQAQECGHLHVVNPDWLWSCLERWDK
VEEQLFPLRDDHTKAQRENSPAAFPDREGVPPTALFHPMPVLPKAQPGPEVRIYDSNTGK
LIRTGARGPPAPSSSLPIRQEPSSFRAVPPPQPQMFGEELPDAQDGEQPGPSRRKRQPSM
SETMPLYTLCKEDLESMDKEVDDILGEGSDDSDSEKRRPEEQEEEPQPRKPGTRRERTLG
APASSERSAAGGRGPRGHKRKLNEEDAASESSRESSNEDEGSSSEADEMAKALEAELNDL
M
Sequence length 961
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of HIV-1 elongation complex containing HIV-1 Tat
RNA Polymerase II Pre-transcription Events
TP53 Regulates Transcription of DNA Repair Genes
RNA Polymerase II Transcription Elongation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Charcot-marie-tooth disease Charcot-Marie-Tooth Disease rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295
View all (1137 more)
16194727
Congenital cataracts, facial dysmorphism, and neuropathy Congenital Cataracts, Facial Dysmorphism, And Neuropathy, Congenital cataracts-facial dysmorphism-neuropathy syndrome rs113994102, rs1114167307 14517542
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Rheumatoid arthritis Rheumatoid arthritis GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Behcet Syndrome Associate 27777341
Cataract Associate 24690360
Congenital Cataracts Facial Dysmorphism And Neuropathy Associate 24690360
Demyelinating Diseases Associate 24690360
Depressive Disorder Associate 34585950
Disease Associate 34585950
Microphthalmos Associate 24690360
Uterine Cervical Neoplasms Associate 16004614