Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
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

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

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
MIRT519351	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT519350	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT519349	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT519361	hsa-miR-892a	PAR-CLIP	21572407
MIRT519359	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT519360	hsa-miR-187-5p	PAR-CLIP	21572407
MIRT519358	hsa-miR-548v	PAR-CLIP	21572407
MIRT519357	hsa-miR-221-3p	PAR-CLIP	21572407
MIRT519356	hsa-miR-222-3p	PAR-CLIP	21572407
MIRT519355	hsa-miR-412-5p	PAR-CLIP	21572407
MIRT519354	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT519352	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT519353	hsa-miR-4666a-5p	PAR-CLIP	21572407
MIRT542484	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT519351	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT519350	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT519349	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT519359	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT519354	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT519352	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT542484	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT519351	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT519350	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT519349	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT519361	hsa-miR-892a	PAR-CLIP	23446348
MIRT519359	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT519360	hsa-miR-187-5p	PAR-CLIP	23446348
MIRT519358	hsa-miR-548v	PAR-CLIP	23446348
MIRT519357	hsa-miR-221-3p	PAR-CLIP	23446348
MIRT519356	hsa-miR-222-3p	PAR-CLIP	23446348
MIRT519355	hsa-miR-412-5p	PAR-CLIP	23446348
MIRT519354	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT519352	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT519353	hsa-miR-4666a-5p	PAR-CLIP	23446348
MIRT519351	hsa-miR-493-5p	PAR-CLIP	23446348
MIRT519350	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT519349	hsa-miR-574-5p	PAR-CLIP	23446348

Show/Hide all(33)

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:0000781	Component	Chromosome, telomeric region	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	ISS
GO:0005515	Function	Protein binding	IPI	19648609, 19854130, 22763445, 25416956, 25910212, 28514442, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	19854130
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0010833	Process	Telomere maintenance via telomere lengthening	IBA
GO:0010833	Process	Telomere maintenance via telomere lengthening	IMP	19648609
GO:0016233	Process	Telomere capping	IEA
GO:0016233	Process	Telomere capping	TAS	22763445
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IDA	22763445
GO:0042162	Function	Telomeric DNA binding	IBA
GO:0042162	Function	Telomeric DNA binding	IDA	19854130
GO:0042162	Function	Telomeric DNA binding	IEA
GO:0043047	Function	Single-stranded telomeric DNA binding	IDA	19648609
GO:0043047	Function	Single-stranded telomeric DNA binding	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045740	Process	Positive regulation of DNA replication	IEA
GO:0045740	Process	Positive regulation of DNA replication	ISS
GO:0051052	Process	Regulation of DNA metabolic process	IEA
GO:1990879	Component	CST complex	IBA
GO:1990879	Component	CST complex	IDA	19854130, 22763445
GO:1990879	Component	CST complex	IEA

MIM	HGNC	e!Ensembl
613128	26200	ENSG00000107960

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

MQPGSSRCEEETPSLLWGLDPVFLAFAKLYIRDILDMKESRQVPGVFLYNGHPIKQVDVL
GTVIGVRERDAFYSYGVDDSTGVINCICWKKLNTESVSAAPSAARELSLTSQLKKLQETI
EQKTKIEIGDTIRVRGSIRTYREEREIHATTYYKVDDPVWNIQIARMLELPTIYRKVYDQ
PFHSSALEKEEALSNPGALDLPSLTSLLSEKAKEFLMENRVQSFYQQELEMVESLLSLAN
QPVIHSASSDQVNFKKDTTSKAIHSIFKNAIQLLQEKGLVFQKDDGFDNLYYVTREDKDL
HRKIHRIIQQDCQKPNHMEKGCHFLHILACARLSIRPGLSEAVLQQVLELLEDQSDIVST
MEHYYTAF

Sequence length

368

Interactions

View interactions

	Reactome
			Telomere C-strand synthesis initiation

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebroretinal Microangiopathy With Calcifications And Cysts	cerebroretinal microangiopathy with calcifications and cysts 2	rs1057519583	N/A

Show/Hide Unknown Diseases (17)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Carcinoma	Basal cell carcinoma	N/A	N/A	GWAS
Coats Disease	Coats plus syndrome	N/A	N/A	GenCC
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Fibromuscular Dysplasia	Fibromuscular dysplasia	N/A	N/A	GWAS
Glioma	Glioma	N/A	N/A	GWAS
Hypertension	Hypertension	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Ischemic Stroke	Ischemic stroke	N/A	N/A	GWAS
Lung adenocarcinoma	Lung adenocarcinoma (conditioned on cigarettes per day), Lung adenocarcinoma	N/A	N/A	GWAS
Melanoma	Melanoma	N/A	N/A	GWAS
Multiple myeloma	Multiple myeloma	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Prostate cancer	Prostate cancer (late onset), Prostate cancer	N/A	N/A	GWAS
Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	N/A	N/A	GWAS
Renal Carcinoma	Renal cell carcinoma	N/A	N/A	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
HIV Infections	Associate	31388112
Hypertension	Associate	37175507
Leukemia Lymphocytic Chronic B Cell	Associate	27197291
Leukocyte Disorders	Associate	31388112
Lung Neoplasms	Associate	33906323
Melanoma	Associate	34605909
Melanoma Cutaneous Malignant	Associate	34605909
Meningioma	Associate	30796745
Neoplasms	Associate	32873778, 38036565
Neuroblastoma	Associate	27207662
Pulmonary Arterial Hypertension	Associate	37176017
Scleroderma Systemic	Associate	26792595
Thyroid Neoplasms	Associate	28195142

STN1 (STN1 subunit of CST complex)