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 name Gene Name - the full gene name approved by the HGNC.
STN1 subunit of CST complex
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STN1
Synonyms (NCBI Gene) Gene synonyms aliases
AAF-44, AAF44, CRMCC2, OBFC1, RPA-32, bA541N10.2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CRMCC2
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.33
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(42)
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
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 IDs Other 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
613128 26200 ENSG00000107960
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
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Telomere C-strand synthesis initiation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (12)
Causal
Disease term Disease name 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
View all (214 more)
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
View all (4 more)		 27432940, 25957586
Show/Hide Unknown Diseases (14)
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30940143, 30804561 ClinVar
Malignant melanoma of skin Malignant melanoma of skin of lower limb, Malignant melanoma of skin of upper limb 26237428 ClinVar
Coats Disease Coats plus syndrome GenCC
Uterine Fibroids Uterine Fibroids GWAS
Show/Hide Text Mining Associations (23)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 39298701
Amyotrophic Lateral Sclerosis Associate 34906191
Carcinoma Ovarian Epithelial Associate 28346442
Cell Transformation Neoplastic Associate 34605909
Cerebral Hemorrhage Associate 39298701
Cerebral Small Vessel Diseases Associate 30769869
Cerebroretinal Microangiopathy with Calcifications and Cysts Associate 29481669, 34110109, 39616267
Coronary Disease Associate 24349443, 24904205
Diabetes Mellitus Type 2 Associate 32296102
Glioma Associate 34477880