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Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_014140 Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $809.00 $760.00 15

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RefSeq Version NM_014140.3, 187761312
Length 3281 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.
Product SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Comment

Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

RefSeq NP_054859.2
CDS 331..3195
Misc Feature(1)292..294
Misc Feature(2)292..294
Misc Feature(3)334..336
Misc Feature(4)334..336
Misc Feature(5)781..783
Misc Feature(6)1072..1236
Misc Feature(7)1357..1521
Misc Feature(8)<1579..2997
Misc Feature(9)1690..2076
Misc Feature(10)1711..1725
Misc Feature(11)1975..1986
Misc Feature(12)1975..1986
Misc Feature(13)2431..2811
Misc Feature(14)order(2527..2538,2596..2601,2680..2688)
Misc Feature(15)order(2704..2706,2767..2769,2779..2781,2788..2790)
Exon (1)1..235
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (2)236..272
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (3)273..1141
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (4)1142..1192
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (5)1193..1426
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (6)1427..1477
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (7)1478..1664
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (8)1665..1815
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (9)1816..1974
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (10)1975..2040
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (11)2041..2181
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (12)2182..2400
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (13)2401..2471
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (14)2472..2574
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (15)2575..2757
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (16)2758..2858
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (17)2859..2955
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Exon (18)2956..3271
Gene:SMARCAL1
Gene Synonym:HARP; HHARP
Translation MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRE SCKPVSHGVIFKQQNLSSSSNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMALT GISPPLAQSPPEVPKQQLLSYELGQGHAQASPEIRFTPFANPTHKPLAKPKSSQETPAHS SGQPPRDAKLEAKTAKASPSGQNISYIHSSSESVTPRTEGRLQQKSGSSVQKGVNSQKGK CVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFSMNDYSALMKAAQSLPTVNLQ PLEWAYGSSESPSTSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYSQDLIALFKQM DSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDV PEADLSEVDPKLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAICIAAFYRKEWP LLVVVPSSVRFTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLINIVSFDLLSKLEKQLK TPFKVVIIDESHFLKNSRTARCRAAMPVLKVAKRVILLSGTPAMSRPAELYTQIIAVKPT FFPQFHAFGLRYCDAKRMPWGWDYSGSSNLGELKLLLEEAVMLRRLKSDVLSQLPAKQRK IVVIAPGRINARTRAALDAAAKEMTTKDKTKQQQKDALILFFNRTAEAKIPSVIEYILDL LESGREKFLVFAHHKVVLDAITQELERKHVQHIRIDGSTSSAEREDLCQQFQLSERHAVA VLSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHRIGQTSSVGIHYLVAKGTADD YLWPLIQEKIKVLAEAGLSETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDMELL EAAESFDPGSASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL
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Position Chain Variation Link
23+dbSNP:
23+a, cdbSNP:373247584
complement(113)-g, adbSNP:3755141
131+a, gdbSNP:79352134
194+a, gdbSNP:115172989
325+a, gdbSNP:368738615
379+c, tdbSNP:119473034
395+c, gdbSNP:17851400
402+a, gdbSNP:199805770
430+c, tdbSNP:119473035
444+c, gdbSNP:374642503
454+a, gdbSNP:199905841
455+c, tdbSNP:149631446
457+a, gdbSNP:2066524
600+c, tdbSNP:150591090
626+a, gdbSNP:149567782
643+c, tdbSNP:372708949
670+c, g, tdbSNP:202031614
671+a, gdbSNP:11555797
709+c, gdbSNP:62178625
753+c, tdbSNP:35907255
778+g, tdbSNP:376295895
876+a, gdbSNP:151122737
899+g, tdbSNP:4338942
906+c, tdbSNP:4456678
923+, cdbSNP:35406881
933+c, gdbSNP:35048226
949+a, tdbSNP:6734114
954+c, tdbSNP:376048935
992+g, tdbSNP:371098968
1040+a, gdbSNP:370414331
1054+a, gdbSNP:375140716
1056+a, tdbSNP:146658939
1062+c, tdbSNP:201962302
1063+a, gdbSNP:137914185
1065+c, tdbSNP:149510554
1091+a, cdbSNP:368040473
1158+dbSNP:
1158+g, tdbSNP:368683635
1186+g, tdbSNP:202152697
1202+dbSNP:
1202+c, tdbSNP:148276420
1218+a, gdbSNP:140707035
1231+c, gdbSNP:146084305
1257+c, tdbSNP:139949668
1275+c, gdbSNP:2066522
1278+c, tdbSNP:142455621
1290+c, tdbSNP:2066513
1291+a, gdbSNP:371378288
1292+a, gdbSNP:148752234
1295+a, tdbSNP:150148936
1331+a, gdbSNP:138575228
1360+a, gdbSNP:370663120
1395+a, gdbSNP:374876609
1399+a, tdbSNP:369180164
1407+a, gdbSNP:372922123
1427+dbSNP:
1427+a, gdbSNP:111655657
1459+c, gdbSNP:2066518
1480+dbSNP:
1480+a, gdbSNP:375414504
1489+c, tdbSNP:147448613
1490+a, gdbSNP:141881295
1500+a, tdbSNP:368873394
1526+c, tdbSNP:139872089
1542+a, gdbSNP:2066525
1573+a, gdbSNP:58848916
1578+a, cdbSNP:61752204
1581+a, gdbSNP:372331472
1589+c, tdbSNP:185854595
1601+a, tdbSNP:2066520
1626+c, tdbSNP:151159565
1627+a, gdbSNP:374696042
1631+c, tdbSNP:200635428
1669+dbSNP:
1669+a, gdbSNP:138215699
1672+a, gdbSNP:370689030
1687+c, tdbSNP:147043913
1704+c, tdbSNP:200566186
1743+c, tdbSNP:149599324
1756+a, cdbSNP:375111736
1757+a, gdbSNP:142164846
1762+a, gdbSNP:200945637
1770+a, gdbSNP:367557310
1794+c, tdbSNP:139469074
1797+a, gdbSNP:145525014
1798+c, tdbSNP:371394232
1826+dbSNP:
1826+a, gdbSNP:145264115
1863+c, tdbSNP:142314193
1864+a, gdbSNP:35087810
1866..1867+, adbSNP:34160529
1943+a, gdbSNP:199941134
1953+c, gdbSNP:369723694
1973+a, tdbSNP:119473036
2057+dbSNP:
2057+c, tdbSNP:138819354
2062+c, tdbSNP:370667576
2086+c, tdbSNP:119473038
2105+c, tdbSNP:199876834
2106+a, gdbSNP:372995559
2115+c, tdbSNP:145825654
2116+a, gdbSNP:143100109
2123+a, gdbSNP:376199515
2149+a, gdbSNP:370772350
2180+g, tdbSNP:199805996
2199+dbSNP:
2199+c, gdbSNP:144394359
2201+a, gdbSNP:372383320
2204+c, gdbSNP:150715355
2226+g, tdbSNP:145129704
2238+a, gdbSNP:375844575
2261+a, gdbSNP:140515579
2263+c, tdbSNP:119473037
2271+a, gdbSNP:369105193
2275+a, gdbSNP:2066523
2277+c, tdbSNP:2066526
2278+a, gdbSNP:200734842
2302+a, cdbSNP:373240140
2305+c, tdbSNP:148893764
2325+c, tdbSNP:151241914
2326+c, tdbSNP:376035215
2332+a, cdbSNP:189863563
2334+a, gdbSNP:369431487
2361+a, gdbSNP:373085384
2362+g, tdbSNP:145685056
2377+a, gdbSNP:182225676
2400+c, tdbSNP:2066527
2403+dbSNP:
2403+a, gdbSNP:112200018
2444+c, tdbSNP:200644381
2471+c, tdbSNP:372158077
2515+dbSNP:
2515+g, tdbSNP:369163180
2547+c, tdbSNP:372977172
complement(2555)-g, adbSNP:2271336
2555+c, tdbSNP:386563066
complement(2556)-t, cdbSNP:2271335
2573+a, tdbSNP:369634860
2586+dbSNP:
2586+a, cdbSNP:147417446
2621+a, gdbSNP:267607071
2651+a, cdbSNP:149425324
2652+a, gdbSNP:139445683
2673+a, gdbSNP:373292571
complement(2694)-t, cdbSNP:2066517
2731+g, tdbSNP:200679534
2789+dbSNP:
2789+a, gdbSNP:200666300
2808+c, tdbSNP:367698810
2809+a, gdbSNP:146849562
2828+a, tdbSNP:140697817
2842+a, gdbSNP:369844668
2852+a, gdbSNP:185075482
2864+dbSNP:
2864+a, tdbSNP:372298863
2872+g, tdbSNP:119473033
2884+a, gdbSNP:143378530
2915+a, gdbSNP:184390693
2944+c, tdbSNP:372951765
2971+a, cdbSNP:190386780
2979+c, tdbSNP:182217350
3020+c, tdbSNP:140370927
3042+a, gdbSNP:150767214
3095+c, tdbSNP:200431186
3108+a, gdbSNP:373335368
3140+a, gdbSNP:375276319
3183+a, gdbSNP:200632025
3203+, adbSNP:35813053
3209+, adbSNP:369722586
3225+g, tdbSNP:186052380
Title Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child .
Author Carroll C, Badu-Nkansah A, Hunley T, Baradaran-Heravi A, Cortez D and Frangoul H.
Journal Pediatr Blood Cancer 60 (9), E88-E90 (2013)
Title ATR phosphorylates SMARCAL1 to prevent replication fork collapse .
Author Couch FB, Bansbach CE, Driscoll R, Luzwick JW, Glick GG, Betous R, Carroll CM, Jung SY, Qin J, Cimprich KA and Cortez D.
Journal Genes Dev. 27 (14), 1610-1623 (2013)
Title Identification and characterization of SMARCAL1 protein complexes .
Author Betous R, Glick GG, Zhao R and Cortez D.
Journal PLoS ONE 8 (5), E63149 (2013)
Title Targeting SMARCAL1 as a novel strategy for cancer therapy .
Author Zhang L, Fan S, Liu H and Huang C.
Journal Biochem. Biophys. Res. Commun. 427 (2), 232-235 (2012)
Title Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression .
Author Baradaran-Heravi A, Cho KS, Tolhuis B, Sanyal M, Morozova O, Morimoto M, Elizondo LI, Bridgewater D, Lubieniecka J, Beirnes K, Myung C, Leung D, Fam HK, Choi K, Huang Y, Dionis KY, Zonana J, Keller K, Stenzel P, Mayfield C, Lucke T, Bokenkamp A, Marra MA, van Lohuizen M, Lewis DB, Shaw C and Boerkoel CF.
Journal Hum. Mol. Genet. 21 (11), 2572-2587 (2012)
Title R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia .
Author Bokenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM and Ludwig M.
Journal Pediatr. Nephrol. 20 (12), 1724-1728 (2005)
Title Longevity in Schimke immuno-osseous dysplasia .
Author Lou,S., Lamfers,P., McGuire,N. and Boerkoel,C.F.
Journal J. Med. Genet. 39 (12), 922-925 (2002)
Title Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia .
Author Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, Andre JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Frund S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR and Stockton DW.
Journal Nat. Genet. 30 (2), 215-220 (2002)
Title Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse .
Author Coleman MA, Eisen JA and Mohrenweiser HW.
Journal Genomics 65 (3), 274-282 (2000)
Title Schimke Immunoosseous Dysplasia .
Author Morimoto,M., Baradaran-Heravi,A., Lucke,T. and Boerkoel,C.F.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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