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Aliases for OBFC1 Gene

Aliases for OBFC1 Gene

  • Oligonucleotide/Oligosaccharide-Binding Fold Containing 1 2 3
  • STN1 3 4 6
  • Oligonucleotide/Oligosaccharide-Binding Fold-Containing Protein 1 3 4
  • Suppressor Of Cdc Thirteen Homolog 3 4
  • AAF44 3 6
  • 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

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 single-stranded DNA binding and single-stranded telomeric DNA binding.

UniProtKB/Swiss-Prot for OBFC1 Gene

  • 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for OBFC1 Gene

Start:
103,870,302 bp from pter
End:
103,918,287 bp from pter
Size:
47,986 bases
Orientation:
Minus strand

Genomic View for OBFC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Interacts with TEN1/C17orf106 and CTC1/C17orf68; the interaction is direct. Interacts with ACD/TPP1.
    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 Lys55 and Lys283
  • 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 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 :
  • Q9H668
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, 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:0003676 nucleic acid binding --
GO:0003697 single-stranded DNA binding ISS --
GO:0005515 protein binding IPI 19648609
GO:0043047 single-stranded telomeric DNA binding IDA 19648609
genes like me logo Genes that share ontologies with OBFC1: view
genes like me logo Genes that share phenotypes with OBFC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OBFC1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
nucleus 5
cytoskeleton 4
extracellular 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for OBFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 19648609
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with OBFC1: view

Pathways for OBFC1 Gene

SuperPathways for OBFC1 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for OBFC1 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:0045740 positive regulation of DNA replication ISS --
genes like me logo Genes that share ontologies with OBFC1: view

No data available for Pathways by source for OBFC1 Gene

Transcripts for OBFC1 Gene

Unigene Clusters for OBFC1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OBFC1

Primer Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with OBFC1: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia OBFC1 35
  • 99.55 (n)
  • 99.18 (a)
OBFC1 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia OBFC1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OBFC1 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Obfc1 35
  • 78.29 (n)
  • 70.57 (a)
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)
obfc1 36
  • 43 (a)
OneToOne
zgc64174 35
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 MAF
rs6491 -- 103,882,179(+) AAGCA(-/AGTGACA/GTGACA)CTCAT utr-variant-3-prime, intron-variant
rs911547 -- 103,879,663(-) GCCTT(C/T)GGTCT utr-variant-3-prime, intron-variant
rs997907 -- 103,894,711(+) ACCAA(A/C)CAAAC intron-variant
rs1040864 -- 103,895,413(-) TTGGA(A/T)AGAAA intron-variant
rs1048585 -- 103,877,831(-) GGCTC(A/G/T)CCAGA utr-variant-3-prime, 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

Relevant External Links for OBFC1 Gene

HapMap Linkage Disequilibrium report
OBFC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OBFC1 Gene

Disorders for OBFC1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for OBFC1 Gene including...

Search for OBFC1 Gene in MalaCards »

Relevant External Links for OBFC1

Genetic Association Database (GAD)
OBFC1
Human Genome Epidemiology (HuGE) Navigator
OBFC1
genes like me logo Genes that share disorders with OBFC1: view

No data available for UniProtKB/Swiss-Prot 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
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 48
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for OBFC1 Gene

Sources for OBFC1 Gene

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