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FLASH GENE

Symbol

CTDP1

contributors: mct - updated : 04-07-2024

HGNC name	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
HGNC id	2498

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CCFDN congenital cataract, facial dysmorphism neuropathy syndrome
Location	18q23      Physical location : 77.439.800 - 77.514.507
Synonym name	TFIIF-associating CTD phosphatase 1
	CTD of POLR2A, phosphatase of, subunit 1
	RNA polymerase II subunit A C-terminal domain phosphatase
	transcription factor IIF-associating CTD phosphatase 1
Synonym symbol(s)	FCP1
EC.number	3.1.3.16

DNA

TYPE	functioning gene
STRUCTURE	79.86 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004715 13 - 3744 NP_004706 104.3 961 - 2015 26653855 FCP1a NM_048368 12 - 5703 NP_430255 93.4 867 - 2015 26653855 FCP1b NM_001318511 12 - 5699 NP_001305440 - 867 - 2015 26653855 NM_001202504 13 - 3392 NP_001189433 - 842 - 2015 26653855

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon     Endocrine pancreas         Lymphoid/Immune spleen         Visual eye anterior segment         eye lens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Epithelial

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	posterior rhombomere

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	C terminal domain phosphatase
	one BRCT domain
	one FCP1 homology domain

conjugated

PhosphoP

mono polymer

homomer , dimer

HOMOLOGY

interspecies	ortholog to murine Ctdp1
	homolog to dog LOC476158

Homologene

FAMILY

haloacid dehalogenase superfamily phosphatases

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
	intracellular,nucleus,nucleoplasm

basic FUNCTION	an essential component of the eukaryotic transcription machinery
	stimulating transcript elongation by RNAP II
	has a crucial role in the regulation of gene expression
	CTDP1 was found to regulate multiple aspects of FANCI activity, including chromatin localization
	plays likely an essential role in early development and cell growth and survival in part by regulating the cell cycle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

may be a component of a RNA polymerase II holoenzyme complex

INTERACTION

DNA

RNA

small molecule

protein	GTF2F1 (when phosphorylated)
	ENSA is regulated by a coherent feed-forward loop as well: CDK1 both activates the phosphorylation (via MASTL) and inhibits the dephosphorylation (via CTDP1) of ENSA

cell & other

REGULATION

activated by

GTF2F1

Other

regulated by phosphorylation

ASSOCIATED DISORDERS

corresponding disease(s)

CCFDN

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in certain Gastric cancer (GC) cell lines

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive stomach is a novel and promising therapeutic target for the treatment of GC

ANIMAL & CELL MODELS

Ctdp1 deficiency leads to early embryonic lethality in mice and defects in cell cycle progression