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Aliases for STN1 Gene

Aliases for STN1 Gene

  • STN1, CST Complex Subunit 2 3 5
  • Oligonucleotide/Oligosaccharide-Binding Fold-Containing Protein 1 3 4
  • Oligonucleotide/Oligosaccharide Binding Fold Containing 1 2 3
  • Suppressor Of Cdc Thirteen Homolog 3 4
  • OBFC1 3 4
  • Replication Protein A 32 KDa Subunit 3
  • Alpha Accessory Factor 44 3
  • CST Complex Subunit STN1 3
  • BA541N10.2 3
  • AAF-44 3
  • RPA-32 3
  • AAF44 3

External Ids for STN1 Gene

Previous HGNC Symbols for STN1 Gene

  • OBFC1

Summaries for STN1 Gene

Entrez Gene Summary for STN1 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]

GeneCards Summary for STN1 Gene

STN1 (STN1, CST Complex Subunit) is a Protein Coding gene. Diseases associated with STN1 include Cerebroretinal Microangiopathy With Calcifications And Cysts 2 and Cerebroretinal Microangiopathy With Calcifications And Cysts. Among its related pathways are Lung fibrosis.

UniProtKB/Swiss-Prot for STN1 Gene

  • 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.

Additional gene information for STN1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STN1 Gene

Genomics for STN1 Gene

Regulatory Elements for STN1 Gene

Enhancers for STN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H103892 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.1 +23.6 23616 4.8 FEZF1 BRCA1 ZNF2 GTF3C2 SP3 YY2 TSHZ1 ZNF488 GLIS1 STAT3 SLK PDCD11 STN1 ENSG00000260461 SH3PXD2A MIR936 COL17A1 GC10M103885
GH10H104109 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -191.9 -191868 1.6 HDAC1 PKNOX1 JUN CEBPB SIN3A EBF1 NR3C1 EP300 FOSL1 JUND SFR1 COL17A1 MIR936 STN1 CFAP43 GSTO1 CFAP58 SLK
GH10H103884 1 ENCODE dbSUPER 16.1 +33.5 33450 0.2 CTCF ZNF654 MXI1 RB1 TRIM22 MXD4 REST ZNF2 RAD21 RFX5 STN1 SH3PXD2A MIR609 GC10M103884 PIR55313 GC10M103885
GH10H103905 2 FANTOM5 Ensembl ENCODE dbSUPER 7.2 +8.7 8670 9 HDGF ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBX5 FOS MXD4 SLK STN1 ENSG00000260461 GSTO2 SH3PXD2A GSTO1 GC10M103885
GH10H103869 1.2 FANTOM5 ENCODE dbSUPER 11.8 +46.6 46558 4.3 SCRT1 JUND SCRT2 CEBPB EP300 ZIC2 STN1 SH3PXD2A SLK MIR936 COL17A1 GSTO2 PIR55627 ENSG00000260461
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STN1 on UCSC Golden Path with GeneCards custom track

Promoters for STN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000261222 387 1401 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143
ENSR00000032987 1487 401 ZNF664 GATA3 JUN ZNF10 USF2 EP300

Genomic Locations for STN1 Gene

Genomic Locations for STN1 Gene
chr10:103,870,258-103,918,287
(GRCh38/hg38)
Size:
48,030 bases
Orientation:
Minus strand
chr10:105,637,316-105,678,045
(GRCh37/hg19)

Genomic View for STN1 Gene

Genes around STN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STN1 Gene

Proteins for STN1 Gene

  • Protein details for STN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H668-STN1_HUMAN
    Recommended name:
    CST complex subunit STN1
    Protein Accession:
    Q9H668
    Secondary Accessions:
    • D3DR99
    • Q5TCZ0

    Protein attributes for STN1 Gene

    Size:
    368 amino acids
    Molecular mass:
    42119 Da
    Quaternary structure:
    • Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1; in the complex interacts directly with TEN1 and CTC1. Interacts with ACD/TPP1, POT1 and POLA1.
    Miscellaneous:
    • Cells expressing STN1 mutants defective for dimerization with TEN1 display elongated telomeres and telomere defects associated with telomere uncapping.

    Three dimensional structures from OCA and Proteopedia for STN1 Gene

neXtProt entry for STN1 Gene

Post-translational modifications for STN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STN1 Gene

No data available for DME Specific Peptides for STN1 Gene

Domains & Families for STN1 Gene

Gene Families for STN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for STN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H668

UniProtKB/Swiss-Prot:

STN1_HUMAN :
  • Belongs to the STN1 family.
Family:
  • Belongs to the STN1 family.
genes like me logo Genes that share domains with STN1: view

Function for STN1 Gene

Molecular function for STN1 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Function:
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.

Phenotypes From GWAS Catalog for STN1 Gene

Gene Ontology (GO) - Molecular Function for STN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding ISS --
GO:0005515 protein binding IPI 19648609
GO:0042162 telomeric DNA binding IDA 19854130
genes like me logo Genes that share ontologies with STN1: view
genes like me logo Genes that share phenotypes with STN1: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for STN1 Gene

Localization for STN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STN1 Gene

Nucleus. Chromosome, telomere.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STN1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
extracellular 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for STN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0000784 nuclear chromosome, telomeric region IDA 19135898
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with STN1: view

Pathways & Interactions for STN1 Gene

SuperPathway Contained pathways
1 Lung fibrosis
genes like me logo Genes that share pathways with STN1: view

Pathways by source for STN1 Gene

1 BioSystems pathway for STN1 Gene

Gene Ontology (GO) - Biological Process for STN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IMP 19854130
GO:0010833 telomere maintenance via telomere lengthening IMP 19648609
GO:0016233 telomere capping TAS 22763445
GO:0032211 negative regulation of telomere maintenance via telomerase IDA 22763445
GO:0045740 positive regulation of DNA replication ISS --
genes like me logo Genes that share ontologies with STN1: view

No data available for SIGNOR curated interactions for STN1 Gene

Drugs & Compounds for STN1 Gene

No Compound Related Data Available

Transcripts for STN1 Gene

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for STN1 Gene

No ASD Table

Relevant External Links for STN1 Gene

GeneLoc Exon Structure for
STN1
ECgene alternative splicing isoforms for
STN1

Expression for STN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of STN1 Gene:

STN1

Evidence on tissue expression from TISSUES for STN1 Gene

  • Intestine(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • bronchus
  • esophagus
  • heart
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for STN1 Gene

Orthologs for STN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for STN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OBFC1 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia OBFC1 33 34
  • 87.95 (n)
cow
(Bos Taurus)
Mammalia OBFC1 33 34
  • 86.38 (n)
rat
(Rattus norvegicus)
Mammalia Obfc1 33
  • 78.29 (n)
mouse
(Mus musculus)
Mammalia Obfc1 33 34
  • 77.72 (n)
Stn1 16
oppossum
(Monodelphis domestica)
Mammalia OBFC1 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OBFC1 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves OBFC1 33 34
  • 62.44 (n)
lizard
(Anolis carolinensis)
Reptilia OBFC1 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia obfc1 33
  • 61.64 (n)
zebrafish
(Danio rerio)
Actinopterygii obfc1 33 34
  • 55.04 (n)
zgc64174 33
Species where no ortholog for STN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for STN1 Gene

ENSEMBL:
Gene Tree for STN1 (if available)
TreeFam:
Gene Tree for STN1 (if available)

Paralogs for STN1 Gene

Pseudogenes.org Pseudogenes for STN1 Gene

genes like me logo Genes that share paralogs with STN1: view

No data available for Paralogs for STN1 Gene

Variants for STN1 Gene

Sequence variations from dbSNP and Humsavar for STN1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs765462548 Pathogenic, Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) [MIM:617341] 103,898,989(+) TGGGT(A/C/T)GTCCA reference, missense
VAR_078499 Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) [MIM:617341]
rs1057519583 Pathogenic 103,900,115(-) AGTCA(C/G)AGGCA reference, missense
rs1000037412 -- 103,869,332(+) TCAAC(-/TAT)TTTTT intron-variant, cds-indel
rs1000057761 -- 103,857,178(+) CTGGC(C/T)AGCTC upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for STN1 Gene

Variant ID Type Subtype PubMed ID
nsv7531 CNV deletion 18451855
nsv1122554 CNV deletion 24896259
esv1740571 CNV insertion 17803354

Variation tolerance for STN1 Gene

Residual Variation Intolerance Score: 76.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STN1 Gene

Human Gene Mutation Database (HGMD)
STN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STN1 Gene

Disorders for STN1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for STN1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search STN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STN1_HUMAN
  • Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) [MIM:617341]: An autosomal recessive, multisystemic disorder characterized by intrauterine growth retardation and, later in life, premature aging symptoms, including poor growth, graying hair, liver fibrosis, portal hypertension, esophageal varices, osteopenia, pancytopenia, hypocellular bone marrow, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain calcifications and white matter changes are responsible for signs including spasticity, ataxia, or dystonia observed in some patients. {ECO:0000269 PubMed:27432940}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for STN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STN1
genes like me logo Genes that share disorders with STN1: view

No data available for Genatlas for STN1 Gene

Publications for STN1 Gene

  1. OB fold-containing protein 1 (OBFC1), a human homolog of yeast Stn1, associates with TPP1 and is implicated in telomere length regulation. (PMID: 19648609) Wan M … Liu D (The Journal of biological chemistry 2009) 2 3 4 22 60
  2. Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects. (PMID: 27432940) Simon AJ … Somech R (The Journal of experimental medicine 2016) 3 4 60
  3. CST for the grand finale of telomere replication. (PMID: 23851344) Chen LY … Lingner J (Nucleus (Austin, Tex.) 2013) 3 4 60
  4. The human CST complex is a terminator of telomerase activity. (PMID: 22763445) Chen LY … Lingner J (Nature 2012) 3 4 60
  5. Human CST promotes telomere duplex replication and general replication restart after fork stalling. (PMID: 22863775) Stewart JA … Price CM (The EMBO journal 2012) 3 4 60

Products for STN1 Gene

Sources for STN1 Gene

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