CTDP1 - CTD phosphatase subunit 1 Gene

Also Known as FCP1; CCFDN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9150

About CTDP1

Cytogenetic location: 18q23 Genomic coordinates (GRCh38): 18:79,676,768-79,756,625 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 206 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 8.7), colon (RPKM 6.0) and 25 other tissues.

Summary

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), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

CTDP1 Products (4)

mRNA Protein Name
NM_001202504.1 NP_001189433.1 RNA polymerase II subunit A C-terminal domain phosphatase isoform 3
NM_001318511.2 NP_001305440.1 RNA polymerase II subunit A C-terminal domain phosphatase isoform 4
NM_004715.5 NP_004706.3 RNA polymerase II subunit A C-terminal domain phosphatase isoform 1
NM_048368.4 NP_430255.2 RNA polymerase II subunit A C-terminal domain phosphatase isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables RNA polymerase II CTD heptapeptide repeat phosphatase activity IDA
IDA: Inferred from direct assay
9765293 GOA
enables TFIIF-class transcription factor complex binding IPI
IPI: Inferred from physical interaction
12732728 GOA
enables Tat protein binding IPI
IPI: Inferred from physical interaction
15723517 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9765293 GOA
Biological Process GO Annotation Evidence References Source
involved in exit from mitosis IMP
IMP: Inferred from mutant phenotype
22692537 GOA
involved in positive regulation by host of viral transcription IDA
IDA: Inferred from direct assay
15723517 GOA
involved in protein dephosphorylation IDA
IDA: Inferred from direct assay
9765293 GOA
Cellular Component GO Annotation Evidence References Source
located in centrosome IDA
IDA: Inferred from direct assay
22692537 GOA
located in midbody IDA
IDA: Inferred from direct assay
22692537 GOA
located in nucleus IDA
IDA: Inferred from direct assay
15723517 GOA
part of protein-containing complex IMP
IMP: Inferred from mutant phenotype
12732728 GOA
located in spindle IDA
IDA: Inferred from direct assay
22692537 GOA
located in spindle midzone IDA
IDA: Inferred from direct assay
22692537 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
22692537 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CTDP1 Protein Structure

NIF

NIF: NLI interacting factor-like phosphatase (184 - 321)

PTCB-BRCT

PTCB-BRCT: twin BRCT domain (638 - 710)

FCP1_C

FCP1_C: FCP1, C-terminal (716 - 961)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 961 a.a.
Protein Preferred Names Protein Names

RNA polymerase II subunit A C-terminal domain phosphatase

  • CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1

CTDP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CTDP1 Q9Y5B0 FANCI Homo sapiens Q9NVI1
TAP
31240132
Intra
CTDP1 Q9Y5B0 FANCI Homo sapiens Q9NVI1
Anti Bait CoIP
31240132
Intra
CTDP1 Q9Y5B0 FANCI Homo sapiens Q9NVI1
Anti Tag CoIP
31240132
Intra
CTDP1 Q9Y5B0 GTF2F1 Homo sapiens P35269
Pull Down
12732728
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Congenital Cataracts, Facial Dysmorphism, And Neuropathy

  • CCFDN

  • Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome

  • Cataract, Congenital, With Facial Dysmorphism And Neuropathy

  • Cataracts, Congenital, Facial Dysmorphism, And Neuropathy
Charcot-Marie-Tooth Disease

  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies
Esophageal Tuberculosis

  • Tuberculosis Of Esophagus
Neuropathy

  • Peripheral Neuropathy

  • Peripheral Neuropathies
Microphthalmia, Isolated 6

  • Isolated Microphthalmia 6

  • MCOP6

  • Microphthalmia, Posterior Nonsyndromic

  • Posterior Nonsyndromic Microphthalmia

  • Microphthalmia, Isolated, 6

  • Autosomal Recessive Posterior Microphthalmos

  • Posterior Non-Syndromic Microphthalmia

  • Microphthalmia, Isolated, Type 6
Charcot-Marie-Tooth Disease And Deafness

  • Charcot-Marie-Tooth Disease Type 1e

  • CMT1E

  • Charcot-Marie-Tooth Disease Type 1

  • Hereditary Motor And Sensory Neuropathy Type 1

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

  • Charcot-Marie-Tooth Disease, Type I

  • Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

  • Charcot-Marie-Tooth Disease, Type 1e

  • Charcot-Marie-Tooth Disease Demyelinating Type 1e

  • Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

  • Cmt1

  • Charcot-Marie-Tooth Neuropathy Type 1

  • Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

  • Charcot-Marie-Tooth Disease-Deafness

  • Charcot-Marie-Tooth Type 1

  • Hmsn1

  • Hereditary Motor And Sensory Neuropathy 1

  • Cmt 1e

  • Charcot Marie Tooth Disease Type 1e

  • Charcot-Marie-Tooth Disease-Deafness Syndrome

  • Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

  • Charcot-Marie-Tooth Disease 1e

  • Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

  • Charcot-Marie-Tooth Neuropathy Type 1e

  • Charcot-Marie-Tooth Disease, Type Ie

  • Hereditary Motor And Sensory Neuropathy Type I
Fanconi Anemia, Complementation Group I

  • Fanconi Anemia Complementation Group I

  • FANCI
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv
Nanophthalmos

  • Nanophthalmia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03290 CTDP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18994 Ctdp1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25483 Ctdp1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus CTDP1 VGNC VGNC:106701
Rattus norvegicus CTDP1 RGD RGD:1311755
Mus musculus CTDP1 MGD MGI:1926953
Felis catus CTDP1 VGNC VGNC:61246
Macaca mulatta CTDP1 VGNC VGNC:71541
Canis familiaris CTDP1 VGNC VGNC:39692
Others CTDP1 NCBI