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STN1 (STN1 subunit of CST complex)

Gene
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, CRMCC2, 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 a
SNPsSNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT519359 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT519354 hsa-miR-223-5p HITS-CLIP 21572407
MIRT519352 hsa-miR-6867-5p HITS-CLIP 21572407
MIRT519353 hsa-miR-4666a-5p HITS-CLIP 21572407
MIRT542484 hsa-miR-190a-3p HITS-CLIP 21572407
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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.
MIM
HGNC
e!Ensembl
Protein
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
PDB 4JOI , 4JQF , 6W6W , 7U5C , 8D0B , 8D0K , 8SOJ , 8SOK
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.
 
Reactome
    Telomere C-strand synthesis initiation
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
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Carcinoma Basal cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 31174203
Cerebroretinal microangiopathy with calcifications and cysts CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) rs199473674, rs202138550, rs387907080, rs373905859, rs199473677, rs201455840, rs199473676, rs199473682, rs199473673, rs199473675, rs199473679, rs397514660, rs1057519583, rs1444923772, rs200609323, rs1567599993, rs764019241, rs745467709, rs773120259 27432940, 25957586
Unknown
Disease name Disease term dbSNP ID References
Central nervous system neoplasms Central Nervous System Neoplasms 28346443
Coats disease Coats plus syndrome
Diffuse interstitial pulmonary fibrosis Hamman-Rich Disease 23583980
Esophageal varix Esophageal Varices

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