CTDP1 - CTD phosphatase subunit 1 Gene

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

PTCB-BRCT

FCP1_C

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

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

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