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Entry version 112 (16 Oct 2019)
Sequence version 2 (23 Mar 2010)
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Protein

CST complex subunit CTC1

Gene

CTC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Involved in telomere maintenance (PubMed:19854131, PubMed:22863775). Involved in genome stability (PubMed:22863775). May be in involved in telomeric C-strand fill-in during late S/G2 phase (By similarity).By similarity5 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
CST complex subunit CTC1
Alternative name(s):
Conserved telomere maintenance component 1
HBV DNAPTP1-transactivated protein B
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CTC1
Synonyms:C17orf68
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26169 CTC1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613129 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q2NKJ3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive pleiomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_067369227A → V in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs199473673EnsemblClinVar.1
Natural variantiVAR_067370259V → M in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs387907080EnsemblClinVar.1
Natural variantiVAR_067371503G → R in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs1320809462Ensembl.1
Natural variantiVAR_067372665V → G in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs199473676EnsemblClinVar.1
Natural variantiVAR_067373840R → W in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs373905859EnsemblClinVar.1
Natural variantiVAR_067374871V → M in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs369255297EnsemblClinVar.1
Natural variantiVAR_067375975R → G in CRMCC1. 2 PublicationsCorresponds to variant dbSNP:rs199473678EnsemblClinVar.1
Natural variantiVAR_067376985Missing in CRMCC1. 2 Publications1
Natural variantiVAR_067377987R → W in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs202138550EnsemblClinVar.1
Natural variantiVAR_0673781142L → H in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs199473681Ensembl.1
Natural variantiVAR_0673791196 – 1202Missing in CRMCC1. 2 Publications7

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
80169

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
CTC1

MalaCards human disease database

More...
MalaCardsi
CTC1
MIMi612199 phenotype

Open Targets

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OpenTargetsi
ENSG00000178971

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
313838 Coats plus syndrome
1775 Dyskeratosis congenita

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672251

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q2NKJ3

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CTC1

Domain mapping of disease mutations (DMDM)

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DMDMi
292495002

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002871811 – 1217CST complex subunit CTC1Add BLAST1217

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q2NKJ3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q2NKJ3

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q2NKJ3

MaxQB - The MaxQuant DataBase

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MaxQBi
Q2NKJ3

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q2NKJ3

PeptideAtlas

More...
PeptideAtlasi
Q2NKJ3

PRoteomics IDEntifications database

More...
PRIDEi
Q2NKJ3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
61406 [Q2NKJ3-1]
61407 [Q2NKJ3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q2NKJ3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q2NKJ3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000178971 Expressed in 151 organ(s), highest expression level in small intestine Peyer's patch

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q2NKJ3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q2NKJ3 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1; in the complex interacts directly with STN1.

Interacts with ACD and POT1.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
123155, 26 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-2129 CST complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q2NKJ3

Database of interacting proteins

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DIPi
DIP-56900N

Protein interaction database and analysis system

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IntActi
Q2NKJ3, 21 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000313759

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11217
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q2NKJ3

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CTC1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGVR Eukaryota
ENOG410Y8V3 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000011553

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q2NKJ3

KEGG Orthology (KO)

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KOi
K23311

Identification of Orthologs from Complete Genome Data

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OMAi
ATASCHI

Database of Orthologous Groups

More...
OrthoDBi
1282784at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q2NKJ3

TreeFam database of animal gene trees

More...
TreeFami
TF335866

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029156 CTC1
IPR042617 CTC1-like

The PANTHER Classification System

More...
PANTHERi
PTHR14865 PTHR14865, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15489 CTC1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q2NKJ3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAGRAQVPS SEQAWLEDAQ VFIQKTLCPA VKEPNVQLTP LVIDCVKTVW
60 70 80 90 100
LSQGRNQGST LPLSYSFVSV QDLKTHQRLP CCSHLSWSSS AYQAWAQEAG
110 120 130 140 150
PNGNPLPREQ LLLLGTLTDL SADLEQECRN GSLYVRDNTG VLSCELIDLD
160 170 180 190 200
LSWLGHLFLF PRWSYLPPAR WNSSGEGHLE LWDAPVPVFP LTISPGPVTP
210 220 230 240 250
IPVLYPESAS CLLRLRNKLR GVQRNLAGSL VRLSALVKSK QKAYFILSLG
260 270 280 290 300
RSHPAVTHVS IIVQVPAQLV WHRALRPGTA YVLTELRVSK IRGQRQHVWM
310 320 330 340 350
TSQSSRLLLL KPECVQELEL ELEGPLLEAD PKPLPMPSNS EDKKDPESLV
360 370 380 390 400
RYSRLLSYSG AVTGVLNEPA GLYELDGQLG LCLAYQQFRG LRRVMRPGVC
410 420 430 440 450
LQLQDVHLLQ SVGGGTRRPV LAPCLRGAVL LQSFSRQKPG AHSSRQAYGA
460 470 480 490 500
SLYEQLVWER QLGLPLYLWA TKALEELACK LCPHVLRHHQ FLQHSSPGSP
510 520 530 540 550
SLGLQLLAPT LDLLAPPGSP VRNAHNEILE EPHHCPLQKY TRLQTPSSFP
560 570 580 590 600
TLATLKEEGQ RKAWASFDPK ALLPLPEASY LPSCQLNRRL AWSWLCLLPS
610 620 630 640 650
AFCPAQVLLG VLVASSHKGC LQLRDQSGSL PCLLLAKHSQ PLSDPRLIGC
660 670 680 690 700
LVRAERFQLI VERDVRSSFP SWKELSMPGF IQKQQARVYV QFFLADALIL
710 720 730 740 750
PVPRPCLHSA TPSTPQTDPT GPEGPHLGQS RLFLLCHKEA LMKRNFCVPP
760 770 780 790 800
GASPEVPKPA LSFYVLGSWL GGTQRKEGTG WGLPEPQGND DNDQKVHLIF
810 820 830 840 850
FGSSVRWFEF LHPGQVYRLI APGPATPMLF EKDGSSCISR RPLELAGCAS
860 870 880 890 900
CLTVQDNWTL ELESSQDIQD VLDANKSLPE SSLTDLLSDN FTDSLVSFSA
910 920 930 940 950
EILSRTLCEP LVASLWMKLG NTGAMRRCVK LTVALETAEC EFPPHLDVYI
960 970 980 990 1000
EDPHLPPSLG LLPGARVHFS QLEKRVSRSH NVYCCFRSST YVQVLSFPPE
1010 1020 1030 1040 1050
TTISIPLPHI YLAELLQGGQ SPFQATASCH IVSVFSLQLF WVCAYCTSIC
1060 1070 1080 1090 1100
RQGKCTRLGS TCPTQTAISQ AIIRLLVEDG TAEAVVTCRN HHVAAALGLC
1110 1120 1130 1140 1150
PREWASLLDF VQVPGRVVLQ FAGPGAQLES SARVDEPMTM FLWTLCTSPS
1160 1170 1180 1190 1200
VLRPIVLSFE LERKPSKIVP LEPPRLQRFQ CGELPFLTHV NPRLRLSCLS
1210
IRESEYSSSL GILASSC
Length:1,217
Mass (Da):134,609
Last modified:March 23, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEF6B3985C72FDA6E
GO
Isoform 2 (identifier: Q2NKJ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     217-251: Missing.
     1053-1066: GKCTRLGSTCPTQT → APGGGWDCRSRGDL
     1067-1217: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:1,031
Mass (Da):114,142
Checksum:i4FDB851CDB123E45
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KSZ1J3KSZ1_HUMAN
CST complex subunit CTC1
CTC1
123Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QKT7J3QKT7_HUMAN
CST complex subunit CTC1
CTC1
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y574A0A2R8Y574_HUMAN
CST complex subunit CTC1
CTC1
410Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KSR1J3KSR1_HUMAN
CST complex subunit CTC1
CTC1
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15247 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAD38600 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti41L → V in CAD38600 (PubMed:17974005).Curated1
Sequence conflicti425L → P in CAD38600 (PubMed:17974005).Curated1
Sequence conflicti668S → I in ABE02809 (Ref. 1) Curated1
Sequence conflicti668S → I in BAG52278 (PubMed:14702039).Curated1
Sequence conflicti864S → G in CAD38600 (PubMed:17974005).Curated1
Sequence conflicti900A → T in AAI10374 (PubMed:15489334).Curated1
Sequence conflicti964G → E in CAD38600 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067369227A → V in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs199473673EnsemblClinVar.1
Natural variantiVAR_067370259V → M in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs387907080EnsemblClinVar.1
Natural variantiVAR_067371503G → R in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs1320809462Ensembl.1
Natural variantiVAR_067372665V → G in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs199473676EnsemblClinVar.1
Natural variantiVAR_032282820I → V. Corresponds to variant dbSNP:rs3027238EnsemblClinVar.1
Natural variantiVAR_067373840R → W in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs373905859EnsemblClinVar.1
Natural variantiVAR_067374871V → M in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs369255297EnsemblClinVar.1
Natural variantiVAR_067375975R → G in CRMCC1. 2 PublicationsCorresponds to variant dbSNP:rs199473678EnsemblClinVar.1
Natural variantiVAR_067376985Missing in CRMCC1. 2 Publications1
Natural variantiVAR_067377987R → W in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs202138550EnsemblClinVar.1
Natural variantiVAR_0322831005I → V4 PublicationsCorresponds to variant dbSNP:rs3826543EnsemblClinVar.1
Natural variantiVAR_0673781142L → H in CRMCC1. 1 PublicationCorresponds to variant dbSNP:rs199473681Ensembl.1
Natural variantiVAR_0673791196 – 1202Missing in CRMCC1. 2 Publications7

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_025351217 – 251Missing in isoform 2. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_0253521053 – 1066GKCTR…CPTQT → APGGGWDCRSRGDL in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_0253531067 – 1217Missing in isoform 2. 1 PublicationAdd BLAST151

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
DQ451688 mRNA Translation: ABE02809.1
AL831955 mRNA Translation: CAD38600.1 Different initiation.
AK091077 mRNA Translation: BAG52278.1
AC135178 Genomic DNA No translation available.
BC026057 mRNA Translation: AAH26057.2
BC110373 mRNA Translation: AAI10374.1
BC111783 mRNA Translation: AAI11784.1
AK025823 mRNA Translation: BAB15247.1 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS42259.1 [Q2NKJ3-1]

NCBI Reference Sequences

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RefSeqi
NP_079375.3, NM_025099.5 [Q2NKJ3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000449476; ENSP00000396018; ENSG00000178971 [Q2NKJ3-2]
ENST00000651323; ENSP00000498499; ENSG00000178971 [Q2NKJ3-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
80169

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:80169

UCSC genome browser

More...
UCSCi
uc002gkq.5 human [Q2NKJ3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ451688 mRNA Translation: ABE02809.1
AL831955 mRNA Translation: CAD38600.1 Different initiation.
AK091077 mRNA Translation: BAG52278.1
AC135178 Genomic DNA No translation available.
BC026057 mRNA Translation: AAH26057.2
BC110373 mRNA Translation: AAI10374.1
BC111783 mRNA Translation: AAI11784.1
AK025823 mRNA Translation: BAB15247.1 Different initiation.
CCDSiCCDS42259.1 [Q2NKJ3-1]
RefSeqiNP_079375.3, NM_025099.5 [Q2NKJ3-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5W2LX-ray1.86A/B716-880[»]
SMRiQ2NKJ3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi123155, 26 interactors
ComplexPortaliCPX-2129 CST complex
CORUMiQ2NKJ3
DIPiDIP-56900N
IntActiQ2NKJ3, 21 interactors
STRINGi9606.ENSP00000313759

PTM databases

iPTMnetiQ2NKJ3
PhosphoSitePlusiQ2NKJ3

Polymorphism and mutation databases

BioMutaiCTC1
DMDMi292495002

Proteomic databases

EPDiQ2NKJ3
jPOSTiQ2NKJ3
MassIVEiQ2NKJ3
MaxQBiQ2NKJ3
PaxDbiQ2NKJ3
PeptideAtlasiQ2NKJ3
PRIDEiQ2NKJ3
ProteomicsDBi61406 [Q2NKJ3-1]
61407 [Q2NKJ3-2]

Genome annotation databases

EnsembliENST00000449476; ENSP00000396018; ENSG00000178971 [Q2NKJ3-2]
ENST00000651323; ENSP00000498499; ENSG00000178971 [Q2NKJ3-1]
GeneIDi80169
KEGGihsa:80169
UCSCiuc002gkq.5 human [Q2NKJ3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
80169
DisGeNETi80169

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CTC1
GeneReviewsiCTC1
HGNCiHGNC:26169 CTC1
MalaCardsiCTC1
MIMi612199 phenotype
613129 gene
neXtProtiNX_Q2NKJ3
OpenTargetsiENSG00000178971
Orphaneti313838 Coats plus syndrome
1775 Dyskeratosis congenita
PharmGKBiPA142672251

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGVR Eukaryota
ENOG410Y8V3 LUCA
GeneTreeiENSGT00390000011553
InParanoidiQ2NKJ3
KOiK23311
OMAiATASCHI
OrthoDBi1282784at2759
PhylomeDBiQ2NKJ3
TreeFamiTF335866

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CTC1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
80169
PharosiQ2NKJ3

Protein Ontology

More...
PROi
PR:Q2NKJ3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000178971 Expressed in 151 organ(s), highest expression level in small intestine Peyer's patch
ExpressionAtlasiQ2NKJ3 baseline and differential
GenevisibleiQ2NKJ3 HS

Family and domain databases

InterProiView protein in InterPro
IPR029156 CTC1
IPR042617 CTC1-like
PANTHERiPTHR14865 PTHR14865, 1 hit
PfamiView protein in Pfam
PF15489 CTC1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCTC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q2NKJ3
Secondary accession number(s): B3KR66
, C9JEX5, Q1PCD1, Q2TBE3, Q8N3S6, Q9H6L0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: March 23, 2010
Last modified: October 16, 2019
This is version 112 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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