Property Summary

NCBI Gene PubMed Count 46
Grant Count 79
R01 Count 47
Funding $15,059,750.42
PubMed Score 60.24
PubTator Score 73.00

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9NZC9 A6NEH0 Q53R00 Q96AY1 Q9NXQ5 Q9UFH3 Q9UI93
Symbols HARP
HHARP

Gene

PDB

4MQV  

Gene RIF (34)

PMID Text
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.
More...

AA Sequence

MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRESCKPVSHGVI      1 - 70
FKQQNLSSSSNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMALTGISPPLAQSPPEVPKQQLLS     71 - 140
YELGQGHAQASPEIRFTPFANPTHKPLAKPKSSQETPAHSSGQPPRDAKLEAKTAKASPSGQNISYIHSS    141 - 210
SESVTPRTEGRLQQKSGSSVQKGVNSQKGKCVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFS    211 - 280
MNDYSALMKAAQSLPTVNLQPLEWAYGSSESPSTSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYS    281 - 350
QDLIALFKQMDSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDV    351 - 420
PEADLSEVDPKLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAICIAAFYRKEWPLLVVVPSSVR    421 - 490
FTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLINIVSFDLLSKLEKQLKTPFKVVIIDESHFLKNSRTA    491 - 560
RCRAAMPVLKVAKRVILLSGTPAMSRPAELYTQIIAVKPTFFPQFHAFGLRYCDAKRMPWGWDYSGSSNL    561 - 630
GELKLLLEEAVMLRRLKSDVLSQLPAKQRKIVVIAPGRINARTRAALDAAAKEMTTKDKTKQQQKDALIL    631 - 700
FFNRTAEAKIPSVIEYILDLLESGREKFLVFAHHKVVLDAITQELERKHVQHIRIDGSTSSAEREDLCQQ    701 - 770
FQLSERHAVAVLSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHRIGQTSSVGIHYLVAKGTADD    771 - 840
YLWPLIQEKIKVLAEAGLSETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDMELLEAAESFDPGS    841 - 910
ASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL                              911 - 954
//

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.
More...