Seroatlas · Human Serome Atlas

CTC1

CST complex subunit CTC1

Also known as: AAF132, C17orf68, CTC1_HUMAN, FLJ22170

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

Protein identityUniProt · HPA

UniProt accession: Q2NKJ3
Gene: CTC1
Ensembl: ENSG00000178971
Chromosome: 17
Canonical length: 1217 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

1217 residues, UniProt reviewed canonical sequence.

>Q2NKJ3|CTC1
     1  MAAGRAQVPS SEQAWLEDAQ VFIQKTLCPA VKEPNVQLTP LVIDCVKTVW LSQGRNQGST
    61  LPLSYSFVSV QDLKTHQRLP CCSHLSWSSS AYQAWAQEAG PNGNPLPREQ LLLLGTLTDL
   121  SADLEQECRN GSLYVRDNTG VLSCELIDLD LSWLGHLFLF PRWSYLPPAR WNSSGEGHLE
   181  LWDAPVPVFP LTISPGPVTP IPVLYPESAS CLLRLRNKLR GVQRNLAGSL VRLSALVKSK
   241  QKAYFILSLG RSHPAVTHVS IIVQVPAQLV WHRALRPGTA YVLTELRVSK IRGQRQHVWM
   301  TSQSSRLLLL KPECVQELEL ELEGPLLEAD PKPLPMPSNS EDKKDPESLV RYSRLLSYSG
   361  AVTGVLNEPA GLYELDGQLG LCLAYQQFRG LRRVMRPGVC LQLQDVHLLQ SVGGGTRRPV
   421  LAPCLRGAVL LQSFSRQKPG AHSSRQAYGA SLYEQLVWER QLGLPLYLWA TKALEELACK
   481  LCPHVLRHHQ FLQHSSPGSP SLGLQLLAPT LDLLAPPGSP VRNAHNEILE EPHHCPLQKY
   541  TRLQTPSSFP TLATLKEEGQ RKAWASFDPK ALLPLPEASY LPSCQLNRRL AWSWLCLLPS
   601  AFCPAQVLLG VLVASSHKGC LQLRDQSGSL PCLLLAKHSQ PLSDPRLIGC LVRAERFQLI
   661  VERDVRSSFP SWKELSMPGF IQKQQARVYV QFFLADALIL PVPRPCLHSA TPSTPQTDPT
   721  GPEGPHLGQS RLFLLCHKEA LMKRNFCVPP GASPEVPKPA LSFYVLGSWL GGTQRKEGTG
   781  WGLPEPQGND DNDQKVHLIF FGSSVRWFEF LHPGQVYRLI APGPATPMLF EKDGSSCISR
   841  RPLELAGCAS CLTVQDNWTL ELESSQDIQD VLDANKSLPE SSLTDLLSDN FTDSLVSFSA
   901  EILSRTLCEP LVASLWMKLG NTGAMRRCVK LTVALETAEC EFPPHLDVYI EDPHLPPSLG
   961  LLPGARVHFS QLEKRVSRSH NVYCCFRSST YVQVLSFPPE TTISIPLPHI YLAELLQGGQ
  1021  SPFQATASCH IVSVFSLQLF WVCAYCTSIC RQGKCTRLGS TCPTQTAISQ AIIRLLVEDG
  1081  TAEAVVTCRN HHVAAALGLC PREWASLLDF VQVPGRVVLQ FAGPGAQLES SARVDEPMTM
  1141  FLWTLCTSPS VLRPIVLSFE LERKPSKIVP LEPPRLQRFQ CGELPFLTHV NPRLRLSCLS
  1201  IRESEYSSSL GILASSC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CTC1 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): 0.3
Highest tissue expression: 36 nTPM

Expression across tissuesHPA

Tissue

spleen: 36 nTPM
cerebellum: 30 nTPM
small intestine: 24 nTPM
pituitary gland: 21 nTPM
ovary: 19 nTPM
liver: 18 nTPM

Single-cell type

pdcs: 61 nCPM
neutrophils: 49 nCPM
plasma cells: 45 nCPM
b-cells: 39 nCPM
rod photoreceptor cells: 37 nCPM
cone photoreceptor cells: 33 nCPM

Immune cell

naive CD4 T-cell: 5.4 nTPM
gdT-cell: 5.3 nTPM
naive B-cell: 5.2 nTPM
naive CD8 T-cell: 5 nTPM
memory CD4 T-cell: 4.9 nTPM
memory B-cell: 4.8 nTPM

Brain region

cerebellum: 14 nTPM
hypothalamus: 8.9 nTPM
cerebral cortex: 8.4 nTPM
white matter: 8.4 nTPM
basal ganglia: 8 nTPM
midbrain: 7.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CTC1.

Disease | AllUniProt

Conditions CTC1 is implicated in, by any mechanism.

Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) MIM:612199

Disease | GeneticClinVar

137 pathogenic / likely-pathogenic of 1,695 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Dyskeratosis congenita
Cerebroretinal microangiopathy with calcifications and cysts 1
CTC1-related disorder
Inborn genetic diseases
Coats plus syndrome

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): 0.63
gnomAD pLI: 0
gnomAD missense Z: 0.5
DepMap mean gene effect: -0.44
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

CST complex subunit CTC1
CST complex subunit CTC1-like
CST, telomere maintenance, complex subunit CTC1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CTC1 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 CTC1 as an antibody target. Whether an autoantibody or antibody against CTC1 could matter depends on whether native CTC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CTC1 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 CTC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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