Property Summary

NCBI Gene PubMed Count 27
PubMed Score 27.42
PubTator Score 18.98

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
tuberculosis 1563 1.79063700229308E-8
ovarian cancer 8492 5.73756972718117E-6
osteosarcoma 7933 6.83063029950067E-6
esophageal adenocarcinoma 737 0.0190553920760902
astrocytic glioma 2241 0.0249421097561112
oligodendroglioma 2849 0.0325749064356072
Disease Target Count Z-score Confidence
Heart disease 279 0.0 1.0
interstitial lung disease 292 0.0 2.0
Disease Target Count
Pulmonary Fibrosis, Idiopathic 12

Expression

  Differential Expression (6)

Disease log2 FC p
astrocytic glioma -1.100 0.025
oligodendroglioma -1.100 0.033
esophageal adenocarcinoma -1.700 0.019
osteosarcoma -1.524 0.000
tuberculosis 1.800 0.000
ovarian cancer 1.600 0.000

Synonym

Accession Q9H668 D3DR99 Q5TCZ0
Symbols AAF44
OBFC1
AAF-44
RPA-32
bA541N10.2

Gene

PDB

4JOI   4JQF  

  Ortholog (13)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG
Dog OMA EggNOG
Horse OMA EggNOG
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Platypus OMA EggNOG
Chicken OMA EggNOG
Anole lizard OMA EggNOG
Xenopus OMA EggNOG
Zebrafish OMA EggNOG Inparanoid

Gene RIF (12)

PMID Text
25598199 we explored two SNPs in genes associated either with telomere biology (OBFC1) or with LTL (OBCF1 and CTC1). Interestingly, we observed that genetic variation does not account for LTL at birth
24349443 A 2-SNP OBFC1 haplotype was associated with higher risk of CHD, and a 3-SNP TERC haplotype was associated with both higher risk of CHD and T2D.
23142664 the requirement for STN1/CST in telomere duplex replication correlates with increasing telomere length and replication stress.
22964711 The Stn1 deficiency leads to persistent and elevated association of DNA polymerase alpha to telomeres, suggesting that Stn1 may modulate the DNA synthesis activity of polalpha rather than controlling the loading of polalpha to telomeres.
22863775 CTC1-STN1-TEN1 complex rescues stalled replication forks during conditions of replication stress, such as those found at natural replication barriers, likely by facilitating dormant origin firing
22763445 the human CST (CTC1, STN1 and TEN1) complex, previously implicated in telomere protection and DNA metabolism, inhibits telomerase activity through primer sequestration and physical interaction with the protection of telomeres 1 (POT1)-TPP1 telomerase processivity factor
20421499 Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.
20421499 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19854130 Ctc1-Stn1-Ten1 is a replication protein A (RPA)-like complex that is not directly involved in conventional DNA replication at forks but plays a role in DNA metabolism frequently required by telomeres.
19119139 OBFC1 is identical to the previously described 44 kDa subunit of DNA-pol-alpha/primase associated factor (AAF) which increases polymerase-alpha/primase template affinity and stimulate both DNA primase and polymerase-alpha activities in vitro.
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AA Sequence

MQPGSSRCEEETPSLLWGLDPVFLAFAKLYIRDILDMKESRQVPGVFLYNGHPIKQVDVLGTVIGVRERD      1 - 70
AFYSYGVDDSTGVINCICWKKLNTESVSAAPSAARELSLTSQLKKLQETIEQKTKIEIGDTIRVRGSIRT     71 - 140
YREEREIHATTYYKVDDPVWNIQIARMLELPTIYRKVYDQPFHSSALEKEEALSNPGALDLPSLTSLLSE    141 - 210
KAKEFLMENRVQSFYQQELEMVESLLSLANQPVIHSASSDQVNFKKDTTSKAIHSIFKNAIQLLQEKGLV    211 - 280
FQKDDGFDNLYYVTREDKDLHRKIHRIIQQDCQKPNHMEKGCHFLHILACARLSIRPGLSEAVLQQVLEL    281 - 350
LEDQSDIVSTMEHYYTAF                                                        351 - 368
//

Text Mined References (31)

PMID Year Title
25598199 2015 Telomere length in the two extremes of abnormal fetal growth and the programming effect of maternal arterial hypertension.
25519149 2015 DNA-Directed Polymerase Subunits Play a Vital Role in Human Telomeric Overhang Processing.
25483097 2014 Human CST abundance determines recovery from diverse forms of DNA damage and replication stress.
25416956 2014 A proteome-scale map of the human interactome network.
24349443 2013 Association of TERC and OBFC1 haplotypes with mean leukocyte telomere length and risk for coronary heart disease.
23851344 CST for the grand finale of telomere replication.
23826127 2013 Structure of the human telomeric Stn1-Ten1 capping complex.
23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
23535734 2013 Identification of seven loci affecting mean telomere length and their association with disease.
23142664 2012 Human CST has independent functions during telomere duplex replication and C-strand fill-in.
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