Seroatlas · Human Serome Atlas

CTCFL

Transcriptional repressor CTCFL

Also known as: BORIS, CT27, CTCFL_HUMAN, dJ579F20.2

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

Protein identityUniProt · HPA

UniProt accession: Q8NI51
Gene: CTCFL
Ensembl: ENSG00000124092
Chromosome: 20
Canonical length: 663 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins, Transcription factors
Subcellular location: Nucleoplasm,Nuclear bodies,Cytosol

OverviewNCBI Gene

CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

Canonical amino-acid sequenceUniProt

663 residues, UniProt reviewed canonical sequence.

>Q8NI51|CTCFL
     1  MAATEISVLS EQFTKIKELE LMPEKGLKEE EKDGVCREKD HRSPSELEAE RTSGAFQDSV
    61  LEEEVELVLA PSEESEKYIL TLQTVHFTSE AVELQDMSLL SIQQQEGVQV VVQQPGPGLL
   121  WLEEGPRQSL QQCVAISIQQ ELYSPQEMEV LQFHALEENV MVASEDSKLA VSLAETTGLI
   181  KLEEEQEKNQ LLAERTKEQL FFVETMSGDE RSDEIVLTVS NSNVEEQEDQ PTAGQADAEK
   241  AKSTKNQRKT KGAKGTFHCD VCMFTSSRMS SFNRHMKTHT SEKPHLCHLC LKTFRTVTLL
   301  RNHVNTHTGT RPYKCNDCNM AFVTSGELVR HRRYKHTHEK PFKCSMCKYA SVEASKLKRH
   361  VRSHTGERPF QCCQCSYASR DTYKLKRHMR THSGEKPYEC HICHTRFTQS GTMKIHILQK
   421  HGENVPKYQC PHCATIIARK SDLRVHMRNL HAYSAAELKC RYCSAVFHER YALIQHQKTH
   481  KNEKRFKCKH CSYACKQERH MTAHIRTHTG EKPFTCLSCN KCFRQKQLLN AHFRKYHDAN
   541  FIPTVYKCSK CGKGFSRWIN LHRHSEKCGS GEAKSAASGK GRRTRKRKQT ILKEATKGQK
   601  EAAKGWKEAA NGDEAAAEEA STTKGEQFPG EMFPVACRET TARVKEEVDE GVTCEMLLNT
   661  MDK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CTCFL 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): 0.57
Highest tissue expression: 10 nTPM

Expression across tissuesHPA

Tissue

testis: 10 nTPM
bone marrow: 0.9 nTPM
retina: 0.8 nTPM
pancreas: 0.5 nTPM
skin: 0.5 nTPM
epididymis: 0.4 nTPM

Single-cell type

differentiating spermatogonia: 171 nCPM
early primary spermatocytes: 133 nCPM
undifferentiated spermatogonia: 40 nCPM
oocytes: 18 nCPM
lactotrophs: 3.8 nCPM
early spermatids: 2.3 nCPM

Immune cell

neutrophil: 0.8 nTPM
basophil: 0.5 nTPM
naive B-cell: 0.4 nTPM
eosinophil: 0.3 nTPM
memory B-cell: 0.3 nTPM
NK-cell: 0.2 nTPM

Brain region

white matter: 15 nTPM
cerebellum: 14 nTPM
cerebral cortex: 13 nTPM
hypothalamus: 12 nTPM
basal ganglia: 12 nTPM
choroid plexus: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CTCFL.

Disease | ImmuneIEDB

Conditions an epitope on CTCFL was assayed in.

colorectal cancer 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): 0.58
gnomAD pLI: 0
gnomAD missense Z: 0.73
DepMap mean gene effect: 0.1
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

KeywordsUniProt

InteractionsUniProt · HPA

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

CTCFL 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 CTCFL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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