Seroatlas · Human Serome Atlas

CTDP1

RNA polymerase II subunit A C-terminal domain phosphatase

Also known as: CTDP1_HUMAN, FCP1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y5B0
Gene: CTDP1
Ensembl: ENSG00000060069
Chromosome: 18
Canonical length: 961 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

961 residues, UniProt reviewed canonical sequence.

>Q9Y5B0|CTDP1
     1  MEVPAAGRVP AEGAPTAAVA EVRCPGPAPL RLLEWRVAAG AAVRIGSVLA VFEAAASAQS
    61  SGASQSRVAS GGCVRPARPE RRLRSERAGV VRELCAQPGQ VVAPGAVLVR LEGCSHPVVM
   121  KGLCAECGQD LTQLQSKNGK QQVPLSTATV SMVHSVPELM VSSEQAEQLG REDQQRLHRN
   181  RKLVLMVDLD QTLIHTTEQH CQQMSNKGIF HFQLGRGEPM LHTRLRPHCK DFLEKIAKLY
   241  ELHVFTFGSR LYAHTIAGFL DPEKKLFSHR ILSRDECIDP FSKTGNLRNL FPCGDSMVCI
   301  IDDREDVWKF APNLITVKKY VYFQGTGDMN APPGSRESQT RKKVNHSRGT EVSEPSPPVR
   361  DPEGVTQAPG VEPSNGLEKP ARELNGSEAA TPRDSPRPGK PDERDIWPPA QAPTSSQELA
   421  GAPEPQGSCA QGGRVAPGQR PAQGATGTDL DFDLSSDSES SSESEGTKSS SSASDGESEG
   481  KRGRQKPKAA PEGAGALAQG SSLEPGRPAA PSLPGEAEPG AHAPDKEPEL GGQEEGERDG
   541  LCGLGNGCAD RKEAETESQN SELSGVTAGE SLDQSMEEEE EEDTDEDDHL IYLEEILVRV
   601  HTDYYAKYDR YLNKEIEEAP DIRKIVPELK SKVLADVAII FSGLHPTNFP IEKTREHYHA
   661  TALGAKILTR LVLSPDAPDR ATHLIAARAG TEKVLQAQEC GHLHVVNPDW LWSCLERWDK
   721  VEEQLFPLRD DHTKAQRENS PAAFPDREGV PPTALFHPMP VLPKAQPGPE VRIYDSNTGK
   781  LIRTGARGPP APSSSLPIRQ EPSSFRAVPP PQPQMFGEEL PDAQDGEQPG PSRRKRQPSM
   841  SETMPLYTLC KEDLESMDKE VDDILGEGSD DSDSEKRRPE EQEEEPQPRK PGTRRERTLG
   901  APASSERSAA GGRGPRGHKR KLNEEDAASE SSRESSNEDE GSSSEADEMA KALEAELNDL
   961  M

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CTDP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.5
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

testis: 24 nTPM
skin: 22 nTPM
spleen: 15 nTPM
bone marrow: 14 nTPM
liver: 13 nTPM
esophagus: 12 nTPM

Single-cell type

neutrophils: 148 nCPM
late primary spermatocytes: 84 nCPM
early spermatids: 78 nCPM
thymocytes: 37 nCPM
nk-cells: 37 nCPM
pdcs: 33 nCPM

Immune cell

eosinophil: 3.6 nTPM
neutrophil: 2.9 nTPM
non-classical monocyte: 1.9 nTPM
NK-cell: 1.6 nTPM
memory B-cell: 1.3 nTPM
gdT-cell: 1.1 nTPM

Brain region

medulla oblongata: 16 nTPM
cerebral cortex: 14 nTPM
choroid plexus: 13 nTPM
white matter: 13 nTPM
midbrain: 13 nTPM
pons: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CTDP1.

Disease | AllUniProt

Conditions CTDP1 is implicated in, by any mechanism.

Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) MIM:604168

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 709 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on CTDP1 was assayed in.

colonic benign neoplasm T cell
chronic lymphocytic leukemia T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.53
gnomAD pLI: 0
gnomAD missense Z: 1
DepMap mean gene effect: -1.68
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

BRCT domain
FCP1 homology domain
HAD superfamily
HAD-like superfamily
BRCT domain superfamily
BRCA1 C Terminus (BRCT) domain
NLI interacting factor-like phosphatase
FCP1-like phosphatase, phosphatase domain
FCP1-like phosphatase, C-terminal
CTD phosphatase Fcp1
FCP1, barrel-sandwich hybrid domain
FCP1, C-terminal
Fcp1 barrel-sandwich hybrid domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CTDP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CTDP1 as an antibody target. Whether an autoantibody or antibody against CTDP1 could matter depends on whether native CTDP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CTDP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CTDP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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