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CTDP1 - CTD phosphatase subunit 1 Gene

Also Known as FCP1; CCFDN

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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

CTDP1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

関連疾患

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)

製品番号	製品名	製品効果	純度	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

生物種	Symbol	由来	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