Property Summary

NCBI Gene PubMed Count 46
PubMed Score 60.24
PubTator Score 73.00

Knowledge Summary


No data available


Gene RIF (34)

26832416 the replication stress response protein SMARCAL1 is a critical regulator of alternative lengthening of telomeres activity.
26648259 SMARCAL1 negatively regulates c-myc transcription by altering the conformation of its promoter region during differentiation.
26578802 results provide the first identification, to our knowledge, of an endogenous source of replication stress that requires SMARCAL1 for resolution and define differences between members of this class of replication fork-repair enzymes.
26195148 Mutations in human SMARCAL1 that result in loss in ATPase activity lead to increased replication stress and therefore possibly manifestation of Schimke immuno-osseous dysplasia.
26089390 The results suggest that Smarcal1 enhances nonhomologous end-joining repair, presumably by interacting with RPA at unwound single-strand sequences and then facilitating annealing at double-strand-break ends.
25319549 the role of SMARCAL1 in the pathogenesis of Schimke immuno-osseous dysplasia
24910198 Conserved motifs are required for RPA32 binding the the N-terminus of SMARCAL1.
24730652 study reports the characterization of the RPA32C-SMARCAL1 interface at the molecular level; implications of results are discussed with respect to the recruitment of SMARCAL1 and other DNA damage response and repair proteins to stalled replication forks
24589093 report provided the clinical and genetic description of a mild phenotype of Schimke immuno-osseous dysplasia associated with nephrotic proteinuria, decreasing after combined therapy with ACE inhibitors and sartans.
24565939 In addition to its annealing helicase activity, which eliminates the natural binding substrate for RPA, HARP blocks the phosphorylation of RPA by DNA-PK.
24197801 We present here the first evidence of intrinsic chromosomal instability in a severe SMARCAL1-deficient patient with a clinical picture of SIOD.
23873943 ATR phosphorylates SMARCAL1 on S652, thereby limiting its fork regression activities and preventing aberrant fork processing
23671665 Data suggest that replication protein A (RPA) brings a complex of SMARCAL1 and WRN to stalled forks, but that they may act in different pathways to promote fork repair and restart.
23630135 Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.
22995303 Review of advances in understanding of the biochemical and cellular functions of SMARCAL1 made over the recent years and discussion of the rationale for development of SMARCAL1 inhibitors as novel anticancer therapies. [Review]
22378147 SMARCAL1 annealing helicase buffers fluctuations in gene expression and that alterations in gene expression contribute to the penetrance of SIOD.
22279047 SMARCAL1 continuously surveys replication forks for damage
21525954 HARP domain endows HARP with this ATP-driven annealing helicase activity.
21327070 loss of SMARCAL1 function in patients may cause DNA replication-associated genome instability that contributes to the pleiotropic phenotypes of Schimke immuno-osseous dysplasia
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20179009 Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.
19841479 SMARCAL1 is a novel DNA damage-binding protein involved in replication fork stabilization.
19793864 ARP is recruited to stalled replication forks via its direct interaction with Replication protein A (RPA)
19793863 the interaction of HARP with RPA increases the concentration of annealing helicase activity in the vicinity of ssDNA regions to facilitate processes such as DNA repair
19793862 SMARCAL1 directly interacts with Replication protein A (RPA) and is recruited to sites of DNA damage in an RPA-dependent manner
19752368 Donor serum SMARCAL1 may serve as a specific, sensitive, and noninvasive predictive marker in the assessment of cardiac graft quality.
19127206 SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. (Case Report).
18974355 study found that HARP is an ATP-dependent annealing helicase that rewinds single-stranded DNA bubbles that are stably bound by replication protein A
18805831 SMARCAL1 binds chromatin in vivo and that Schimke immuno-osseous dysplasia arises from impairment of diverse SMARCAL1 functions
18520775 SMARCAL1 deficiency may influence brain development and function in addition to its previously recognized effect on cerebral circulation.
18356746 Schimke immuno-osseous dysplasia (SIOD) severity within the same family might be modified by the splicing machinery. The renal expression pattern of SMARCAL1 explains a broader spectrum of renal disease in SIOD than previously described.
16840568 Mutated in Schimke immuno-osseous dysplasia, a fatal autosomal recessive disorder.
16237566 Missense mutation in the SMARCAL1 gene is associated with mild Schimke immuno-osseous dysplasia.
12471207 Schimke immuno-osseous dysplasia: a patient who has survived to 20 years despite having a homozygous SMARCAL1 nonsense mutation and severe early onset disease

AA Sequence


Text Mined References (54)

PMID Year Title
26832416 2016 SMARCAL1 Resolves Replication Stress at ALT Telomeres.
26648259 2015 SMARCAL1 Negatively Regulates C-Myc Transcription By Altering The Conformation Of The Promoter Region.
26578802 2015 SMARCAL1 maintains telomere integrity during DNA replication.
26195148 2015 Ligand-induced conformation changes drive ATP hydrolysis and function in SMARCAL1.
26089390 2015 Smarcal1 promotes double-strand-break repair by nonhomologous end-joining.
25319549 2015 Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis.
24910198 2014 Structure of RPA32 bound to the N-terminus of SMARCAL1 redefines the binding interface between RPA32 and its interacting proteins.
24730652 2014 Structural analysis of replication protein A recruitment of the DNA damage response protein SMARCAL1.
24589093 2014 A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).
24565939 2014 HARP preferentially co-purifies with RPA bound to DNA-PK and blocks RPA phosphorylation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24197801 2014 Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient.
24126761 2013 hPrimpol1/CCDC111 is a human DNA primase-polymerase required for the maintenance of genome integrity.
23873943 2013 ATR phosphorylates SMARCAL1 to prevent replication fork collapse.
23671665 2013 Identification and characterization of SMARCAL1 protein complexes.
23630135 2013 Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22995303 2012 Targeting SMARCAL1 as a novel strategy for cancer therapy.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22705370 2012 The HARP-like domain-containing protein AH2/ZRANB3 binds to PCNA and participates in cellular response to replication stress.
22378147 2012 Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
22279047 2012 SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication.
21525954 2011 The HARP domain dictates the annealing helicase activity of HARP/SMARCAL1.
21327070 SMARCAL1 and replication stress: an explanation for SIOD?
21269460 2011 Initial characterization of the human central proteome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20179009 2010 Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19841479 2009 Identification of SMARCAL1 as a component of the DNA damage response.
19793864 2009 The annealing helicase HARP protects stalled replication forks.
19793863 2009 The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA.
19793862 2009 The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart.
19793861 2009 The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks.
19752368 2009 Donor serum SMARCAL1 concentrations predict primary graft dysfunction in cardiac transplantation.
19127206 2009 SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
18974355 2008 HARP is an ATP-driven annealing helicase.
18805831 2009 Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18520775 2008 Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1.
18356746 2008 Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17089404 2007 Schimke immunoosseous dysplasia: suggestions of genetic diversity.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16840568 2007 Schimke immuno-osseous dysplasia: a clinicopathological correlation.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16237566 2005 R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12471207 2002 Longevity in Schimke immuno-osseous dysplasia.
11799392 2002 Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
10857751 2000 Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse.
10713074 2000 A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements.