2. Gene
  3. CTDP1 - CTD phosphatase subunit 1 Gene

CTDP1 - CTD phosphatase subunit 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as FCP1; CCFDN

Gene ID: 9150 | Gene type: protein coding

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

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)

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  • 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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03290 CTDP1 Human Pre-designed siRNA Set A Pre-designed Sets / 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