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Aliases for OBFC1 Gene

Aliases for OBFC1 Gene

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

External Ids for OBFC1 Gene

Previous GeneCards Identifiers for OBFC1 Gene

  • GC10M105307
  • GC10M105632
  • GC10M099268

Summaries for OBFC1 Gene

Entrez Gene Summary for OBFC1 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 OBFC1 Gene

OBFC1 (Oligonucleotide/Oligosaccharide Binding Fold Containing 1) is a Protein Coding gene. Diseases associated with OBFC1 include Pulmonary Fibrosis, Idiopathic. GO annotations related to this gene include nucleic acid binding and single-stranded telomeric DNA binding.

UniProtKB/Swiss-Prot for OBFC1 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 ot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OBFC1 Gene

Genomics for OBFC1 Gene

Regulatory Elements for OBFC1 Gene

Enhancers for OBFC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OBFC1 on UCSC Golden Path with GeneCards custom track

Promoters for OBFC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OBFC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for OBFC1 Gene

Chromosome:
10
Start:
103,870,258 bp from pter
End:
103,918,287 bp from pter
Size:
48,030 bases
Orientation:
Minus strand

Genomic View for OBFC1 Gene

Genes around OBFC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OBFC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OBFC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OBFC1 Gene

Proteins for OBFC1 Gene

  • Protein details for OBFC1 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 OBFC1 Gene

    Size:
    368 amino acids
    Molecular mass:
    42119 Da
    Quaternary structure:
    • Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1/OBFC1; 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 OBFC1 Gene

neXtProt entry for OBFC1 Gene

Proteomics data for OBFC1 Gene at MOPED

Post-translational modifications for OBFC1 Gene

  • Ubiquitination at Lys 55 and Lys 283
  • Modification sites at PhosphoSitePlus

Other Protein References for OBFC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OBFC1 Gene

Domains & Families for OBFC1 Gene

Protein Domains for OBFC1 Gene

Suggested Antigen Peptide Sequences for OBFC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H668

UniProtKB/Swiss-Prot:

STN1_HUMAN :
  • Contains 1 OB DNA-binding domain.
  • Belongs to the STN1 family.
Domain:
  • Contains 1 OB DNA-binding domain.
Family:
  • Belongs to the STN1 family.
genes like me logo Genes that share domains with OBFC1: view

No data available for Gene Families for OBFC1 Gene

Function for OBFC1 Gene

Molecular function for OBFC1 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 ot 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.

Gene Ontology (GO) - Molecular Function for OBFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003697 single-stranded DNA binding ISS --
genes like me logo Genes that share ontologies with OBFC1: view
genes like me logo Genes that share phenotypes with OBFC1: view

Human Phenotype Ontology for OBFC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for OBFC1 Gene

Localization for OBFC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OBFC1 Gene

Nucleus. Chromosome, telomere.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OBFC1 Gene COMPARTMENTS Subcellular localization image for OBFC1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
extracellular 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for OBFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:1990879 CST complex IDA 19854130
genes like me logo Genes that share ontologies with OBFC1: view

Pathways & Interactions for OBFC1 Gene

SuperPathways for OBFC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OBFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010833 telomere maintenance via telomere lengthening IEA,IMP 19648609
GO:1904356 regulation of telomere maintenance via telomere lengthening IDA 22763445
genes like me logo Genes that share ontologies with OBFC1: view

No data available for Pathways by source and SIGNOR curated interactions for OBFC1 Gene

Drugs & Compounds for OBFC1 Gene

No Compound Related Data Available

Transcripts for OBFC1 Gene

Unigene Clusters for OBFC1 Gene

Oligonucleotide/oligosaccharide-binding fold containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OBFC1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2: -
SP3:
SP4: -
SP5: -

Relevant External Links for OBFC1 Gene

GeneLoc Exon Structure for
OBFC1
ECgene alternative splicing isoforms for
OBFC1

Expression for OBFC1 Gene

mRNA expression in normal human tissues for OBFC1 Gene

Protein differential expression in normal tissues from HIPED for OBFC1 Gene

This gene is overexpressed in Heart (47.3) and CD4 Tcells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for OBFC1 Gene



SOURCE GeneReport for Unigene cluster for OBFC1 Gene Hs.62314

genes like me logo Genes that share expression patterns with OBFC1: view

Protein tissue co-expression partners for OBFC1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for OBFC1 Gene

Orthologs for OBFC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OBFC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia OBFC1 35
  • 86.38 (n)
  • 83.65 (a)
OBFC1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OBFC1 35
  • 87.95 (n)
  • 83.29 (a)
OBFC1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Obfc1 35
  • 77.72 (n)
  • 70.92 (a)
Obfc1 16
Obfc1 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OBFC1 35
  • 99.55 (n)
  • 99.18 (a)
OBFC1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Obfc1 35
  • 78.29 (n)
  • 70.57 (a)
oppossum
(Monodelphis domestica)
Mammalia OBFC1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OBFC1 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves OBFC1 35
  • 62.44 (n)
  • 58.4 (a)
OBFC1 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OBFC1 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia obfc1 35
  • 61.64 (n)
  • 57.82 (a)
zebrafish
(Danio rerio)
Actinopterygii obfc1 35
  • 55.04 (n)
  • 46.4 (a)
zgc64174 35
obfc1 36
  • 43 (a)
OneToOne
Species with no ortholog for OBFC1:
  • 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 OBFC1 Gene

ENSEMBL:
Gene Tree for OBFC1 (if available)
TreeFam:
Gene Tree for OBFC1 (if available)

Paralogs for OBFC1 Gene

Pseudogenes.org Pseudogenes for OBFC1 Gene

genes like me logo Genes that share paralogs with OBFC1: view

No data available for Paralogs for OBFC1 Gene

Variants for OBFC1 Gene

Sequence variations from dbSNP and Humsavar for OBFC1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs2487999 - 103,900,068(+) GTAAG(C/T)GGTGG reference, missense
rs10786775 - 103,897,558(+) CGGAG(C/G)AGGCA reference, missense
rs1570221 -- 103,897,116(-) CAACT(C/T)GGTCT intron-variant
rs6491 -- 103,882,179(+) AAGCA(-/AGTGACA/GTGACA)CTCAT intron-variant, utr-variant-3-prime
rs2995264 -- 103,909,085(+) TTTCT(A/G)TTTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OBFC1 Gene

Variant ID Type Subtype PubMed ID
nsv7531 CNV Loss 18451855
esv1740571 CNV Insertion 17803354
nsv895982 CNV Loss 21882294

Variation tolerance for OBFC1 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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for OBFC1 Gene

Disorders for OBFC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OBFC1 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
pulmonary fibrosis, idiopathic
  • idiopathic pulmonary fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search OBFC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for OBFC1

Genetic Association Database (GAD)
OBFC1
Human Genome Epidemiology (HuGE) Navigator
OBFC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OBFC1
genes like me logo Genes that share disorders with OBFC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OBFC1 Gene

Publications for OBFC1 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. (J. Biol. Chem. 2009) 2 3 4 23 67
  2. Telomere length in the two extremes of abnormal fetal growth and the programming effect of maternal arterial hypertension. (PMID: 25598199) Tellechea M. … Pirola C.J. (Sci Rep 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3

Products for OBFC1 Gene

Sources for OBFC1 Gene

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