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STN1 (STN1 subunit of CST complex)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79991
Gene nameGene Name - the full gene name approved by the HGNC.
STN1 subunit of CST complex
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
STN1
SynonymsGene synonyms aliases
AAF-44, AAF44, OBFC1, RPA-32, bA541N10.2
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.33
SummarySummary of gene provided in NCBI Entrez Gene.
OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs765462548 C>A,T Pathogenic Coding sequence variant, missense variant
rs1057519583 C>G Pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT519349 hsa-miR-574-5p PAR-CLIP 23446348
MIRT519349 hsa-miR-574-5p PAR-CLIP, HITS-CLIP 21572407
MIRT519350 hsa-miR-1277-5p PAR-CLIP 23446348
MIRT519350 hsa-miR-1277-5p PAR-CLIP, HITS-CLIP 21572407
MIRT519351 hsa-miR-493-5p PAR-CLIP 23446348
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000723 Process Telomere maintenance IMP 19854130
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000781 Component Chromosome, telomeric region IDA 19648609, 19854130
GO:0001650 Component Fibrillar center IDA
GO:0003697 Function Single-stranded DNA binding IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H668
Protein name CST complex subunit STN1 (Oligonucleotide/oligosaccharide-binding fold-containing protein 1) (Suppressor of cdc thirteen homolog)
Protein function 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:22964711, 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). Required for efficicient replication of the duplex region of the telomere. Promotes efficient replication of lagging-strand telomeres (PubMed:22863775, PubMed:22964711). Promotes general replication start following replication-fork stalling implicating new origin firing (PubMed:22863775). May be in involved in C-strand fill-in during late S/G2 phase independent of its role in telomere duplex replication (PubMed:23142664). ; Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. 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. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites.
PDB 4JOI , 4JQF , 6W6W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01336 tRNA_anti-codon
57 → 155
OB-fold nucleic acid binding domain
 Domain
PF09170 STN1_2
157 → 334
CST, Suppressor of cdc thirteen homolog, complex subunit STN1
 Domain
Sequence
Sequence length 368
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Telomere C-strand synthesis initiation
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 31174203
Dyskeratosis congenita Dyskeratosis Congenita rs121908092, rs121908089, rs121908090, rs121908091, rs121918543, rs121918544, rs121918545, rs1553915517, rs199422284, rs199476393, rs199422277, rs199422270, rs137854489, rs121912288, rs121912304, rs121918665, rs121918666, rs199422294, rs199422263, rs281865549, rs199473674, rs202138550, rs387907080, rs373905859, rs199473677, rs199473676, rs199473682, rs199473673, rs387907153, rs387907154, rs387907249, rs863223324, rs199422311, rs199422315, rs199422314, rs199422316, rs121912289, rs121912297, rs1554041299, rs199422297, rs199422298, rs199422305, rs199422255, rs199422269, rs199422274, rs199422278, rs199422257, rs199422262, rs199422264, rs199422266, rs199422267, rs199473679, rs397514660, rs-1, rs281865547, rs201540674, rs370343781, rs398123017, rs398123048, rs398123051, rs373740199, rs398123052, rs786200999, rs756132866, rs786201001, rs797045144, rs776744306, rs863225129, rs886039438, rs1553915577, rs1553915591, rs745590324, rs942538351, rs1555512179, rs1444923772, rs1555899096, rs1555903332, rs1555814400, rs1553915580, rs770066110, rs1553915590, rs80224512, rs1555899111, rs200609323, rs1196342305, rs1285014916, rs773025155, rs895722334, rs1555811742, rs1555812228, rs1555812480, rs1421904176, rs1555811386, rs1555813123, rs1161373315, rs1555901832, rs961593162, rs1555813144, rs1415449695, rs1555814334, rs980695424, rs778734749, rs1555901000, rs780546933, rs1263776141, rs377024903, rs1555811966, rs1555812178, rs752833281, rs1555812834, rs1555814044, rs377461417, rs1567599296, rs764019241, rs1449687529, rs1569558474, rs767991627, rs1306444586, rs1596812454, rs915854031, rs1597422298, rs938938578, rs1597374251, rs745467709, rs1461036243, rs62637613, rs769617113, rs773120259, rs372031509 28297620
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778
Carcinoma Basal cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 31174203
Unknown
Disease name Disease term dbSNP ID References
Malignant melanoma of skin Malignant melanoma of skin of lower limb, Malignant melanoma of skin of upper limb rs16891982 26237428
Central nervous system neoplasms Central Nervous System Neoplasms 28346443
Coats disease Coats plus syndrome
Diffuse interstitial pulmonary fibrosis Hamman-Rich Disease 23583980

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