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SMARCAL1 Gene

protein-coding   GIFtS: 61
GCID: GC02P217277

SWI/SNF Related, Matrix Associated, Actin Dependent Regulator...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of
Chromatin, Subfamily A-Like 11 2
     SMARCA-Like Protein 12
HepA-Related Protein1 2 3     SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator Of Chromatin
Subfamily A-Like Protein 12
HARP2 3 5     EC 3.6.4.-3
ATP-Driven Annealing Helicase1 2     hHARP3
Sucrose Nonfermenting Protein 2-Like 12 3     SIOD5
HHARP2     EC 3.6.18

External Ids:    HGNC: 111021   Entrez Gene: 504852   Ensembl: ENSG000001383757   OMIM: 6066225   UniProtKB: Q9NZC93   

Export aliases for SMARCAL1 gene to outside databases

Previous GC identifers: GC02P215378 GC02P215998 GC02P217241 GC02P217481 GC02P217102 GC02P216985 GC02P209131


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SMARCAL1 Gene:
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)

GeneCards Summary for SMARCAL1 Gene:
SMARCAL1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1) is a protein-coding gene. Diseases associated with SMARCAL1 include schimke immunoosseous dysplasia, and skin papilloma. GO annotations related to this gene include helicase activity and annealing helicase activity. An important paralog of this gene is BTAF1.

UniProtKB/Swiss-Prot: SMAL1_HUMAN, Q9NZC9
Function: ATP-dependent annealing helicase that catalyzes the rewinding of the stably unwound DNA. Rewinds
single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to
reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases,
that unwind DNA

Gene Wiki entry for SMARCAL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMARCAL1 gene promoter:
         AhR   AML1a   RREB-1   CUTL1   Gfi-1   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMARCAL1 promoter sequence
   Search Chromatin IP Primers for SMARCAL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMARCAL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

SMARCAL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMARCAL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P217277:  view genomic region     (about GC identifiers)

Start:
217,277,137 bp from pter      End:
217,347,776 bp from pter
Size:
70,640 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SMAL1_HUMAN, Q9NZC9 (See protein sequence)
Recommended Name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like
protein 1  
Size: 954 amino acids; 105938 Da
Sequence caution: Sequence=BAA90955.1; Type=Erroneous initiation;
Secondary accessions: A6NEH0 Q53R00 Q96AY1 Q9NXQ5 Q9UFH3 Q9UI93

Explore the universe of human proteins at neXtProt for SMARCAL1: NX_Q9NZC9

Explore proteomics data for SMARCAL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SMARCAL1 (Q9NZC9) (see all 18)
     PWGWDYS  LVVVPSS  EWPLLVV  KTRKWSF 


    See SMARCAL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001120679.1  NP_054859.2  

    ENSEMBL proteins: 
     ENSP00000405077   ENSP00000349823   ENSP00000398969   ENSP00000394410   ENSP00000350940  
     ENSP00000402967   ENSP00000392997   ENSP00000375974   ENSP00000390248   ENSP00000400473  

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    Cloud-Clone Corp. Proteins for SMARCAL1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR010003 HARP_dom
     IPR000330 SNF2_N
     IPR027417 P-loop_NTPase
     IPR014001 Helicase_ATP-bd
     IPR001650 Helicase_C

    Graphical View of Domain Structure for InterPro Entry Q9NZC9

    ProtoNet protein and cluster: Q9NZC9

    1 Blocks protein domain: IPB000330 SNF2 related domain

    UniProtKB/Swiss-Prot: SMAL1_HUMAN, Q9NZC9
    Similarity: Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily
    Similarity: Contains 2 HARP domains
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    SMARCAL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMAL1_HUMAN, Q9NZC9
    Function: ATP-dependent annealing helicase that catalyzes the rewinding of the stably unwound DNA. Rewinds
    single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to
    reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases,
    that unwind DNA

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.-1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0004386helicase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0008094DNA-dependent ATPase activity IMP18974355
         
    SMARCAL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SMARCAL1:
     Decreased viability of wild-ty 

         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Smarcal1):
     cellular  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  nervous system  no phenotypic analysis  renal/urinary system  skeleton 

    SMARCAL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Smarcal1tm1.1Cfbo for SMARCAL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMARCAL1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMARCAL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMARCAL1

    miRNA
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    miRTarBase miRNAs that target SMARCAL1:
    hsa-mir-296-3p (MIRT038478)

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCAL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SMAL1_HUMAN, Q9NZC9: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18974355

    SMARCAL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SMARCAL1 About    
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    2AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMARCAL1
        AMPK Enzyme Complex Pathway
    Glucocorticoid Receptor Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMARCAL1
    Interactions:

        Search GeneGlobe Interaction Network for SMARCAL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for SMARCAL1 (Q9NZC92 ENSP000003498234) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATAD3AQ9NVI72MINT-8415512
    ATAD3BQ5T9A42MINT-8415512
    BLMP541322MINT-8415512
    C10orf2Q96RR12MINT-8415512
    CSNK2A2P197842MINT-8415512
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000733DNA strand renaturation IMP18974355
    GO:0006200ATP catabolic process IMP18974355
    GO:0006259DNA metabolic process IMP18974355
    GO:0006357regulation of transcription from RNA polymerase II promoter IMP18974355
    GO:0016568chromatin modification IEA--

    SMARCAL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SMARCAL1 (SMAL1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SMARCAL1 gene (2 alternative transcripts): 
    NM_001127207.1  NM_014140.3  

    Unigene Cluster for SMARCAL1:

    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
    Hs.516674  [show with all ESTs]
    Unigene Representative Sequence: NM_014140
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430374 ENST00000357276(uc002vgc.4 uc010fvg.3) ENST00000444508
    ENST00000425815 ENST00000358207(uc002vgd.4) ENST00000496037 ENST00000434435
    ENST00000427645 ENST00000392128 ENST00000412913 ENST00000479008 ENST00000445153
    ENST00000486983
    miRNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMARCAL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMARCAL1
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    OriGene qPCR primer pairs and template standards for SMARCAL1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMARCAL1
      QuantiTect SYBR Green Assays in human, mouse, rat SMARCAL1
      QuantiFast Probe-based Assays in human, mouse, rat SMARCAL1

    Additional mRNA sequence: 

    AF082179.1 AF432223.1 AK000117.1 AK023780.1 AL122076.1 BC016482.1 BC029994.1 BC043341.1 

    11 DOTS entries:

    DT.313761  DT.100779815  DT.100779813  DT.100809732  DT.120948442  DT.92432243  DT.100763879  DT.100779816 
    DT.75102274  DT.100656101  DT.120948509 

    Selected AceView cDNA sequences (see all 133):

    BG392496 AA810602 CD368191 AI827760 AI015106 AU124184 BX351078 BC043341 
    CR622730 AI702289 BF343712 C02558 BE145741 BC016482 T91922 CR599402 
    CD251978 BE886940 AI127411 BE206886 BC029994 BX437870 NM_014140 BU168029 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SMARCAL1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
    SP1:                                      -                                                                                       
    SP2:                                -     -                                                                                       
    SP3:                                                                                                                              


    ECgene alternative splicing isoforms for SMARCAL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SMARCAL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATTGAAAT
    SMARCAL1 Expression
    About this image

    SMARCAL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMARCAL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516674

    UniProtKB/Swiss-Prot: SMAL1_HUMAN, Q9NZC9
    Tissue specificity: Ubiquitously expressed, with high levels in testis

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMARCAL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SMARCAL1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smarcal11 , 5 SWI/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 less1, 5 80.16(n)1
    75.66(a)1
      1 (36.72 cM)5
    543801  NM_018817.21  NP_061287.21 
     725832515 
    chicken
    (Gallus gallus)
    Aves SMARCAL11 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 less 61.32(n)
    59.65(a)
      396031  XM_422070.4  XP_422070.3 
    lizard
    (Anolis carolinensis)
    Reptilia SMARCAL16
    SWI/SNF related, matrix associated, actin dependen...
    53(a)
    1 ↔ 1
    GL343674.1(25529-75952)
    African clawed frog
    (Xenopus laevis)
    Amphibia BI477653.12   -- 74.85(n)    BI477653.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570475522   -- 72.36(n)    57047552 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37533
    Marcal11
    helicase3
    Marcal11
    40(a)3
    50.26(n)1
    42.12(a)1
      25B43
    337091  NM_135039.21  NP_608883.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C16A3.1b3
    C16A3.11
    C16A3.11 37(a)
    (best of 3)3
    48.94(n)1
    40.45(a)1
      III(6462711-6465437)3
    1759071  NM_171165.31  NP_741192.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MOT16
    Essential abundant protein involved in regulation ...
    10(a)
    1 → many
    XVI(398480-404083) YPL082C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CHR181 CHR18 49.07(n)
    41.83(a)
      841251  NM_103728.4  NP_175265.3 
    rice
    (Oryza sativa)
    Liliopsida Os07g06362001 Os07g0636200 48.3(n)
    41.97(a)
      4344031  NM_001066928.1  NP_001060393.1 


    ENSEMBL Gene Tree for SMARCAL1 (if available)
    TreeFam Gene Tree for SMARCAL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMARCAL1 gene
    BTAF12  ZRANB32  
    1 SIMAP similar gene for SMARCAL1 using alignment to 9 protein entries:     SMAL1_HUMAN (see all proteins):
    ZRANB3

    SMARCAL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SMARCAL1 (see all 1619)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0213814
    Schimke immuno-osseous dysplasia (SIOD)4--see VAR_0213812 R Q mis40--------
    VAR_0213714
    Schimke immuno-osseous dysplasia (SIOD)4--see VAR_0213712 I N mis40--------
    VAR_0213794
    Schimke immuno-osseous dysplasia (SIOD)4--see VAR_0213792 T I mis40--------
    VAR_0213724
    Schimke immuno-osseous dysplasia (SIOD)4--see VAR_0213722 S L mis40--------
    VAR_0213734
    Schimke immuno-osseous dysplasia (SIOD)4--see VAR_0213732 R W mis40--------
    VAR_0213704
    Schimke immuno-osseous dysplasia (SIOD)4--see VAR_0213702 A P mis40--------
    VAR_0213774
    Schimke immuno-osseous dysplasia (SIOD)4--see VAR_0213772 K T mis40--------
    VAR_0360264
    A breast cancer sample4--see VAR_0360262 L V mis40--------
    VAR_0213764
    Schimke immuno-osseous dysplasia (SIOD)4--see VAR_0213762 K Q mis40--------
    VAR_0213754
    Schimke immuno-osseous dysplasia (SIOD)4--see VAR_0213752 R C mis40--------

    HapMap Linkage Disequilibrium report for SMARCAL1 (217277137 - 217347776 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SMARCAL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3161CNV Insertion18451855
    nsv834537CNV Loss17160897
    nsv524480CNV Loss19592680
    nsv875845CNV Gain21882294
    nsv875846CNV Gain21882294

    Human Gene Mutation Database (HGMD): SMARCAL1
    Locus Specific Mutation Databases (LSDB): SMARCAL1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606622   
    OMIM disorders: 242900  
    UniProtKB/Swiss-Prot: SMAL1_HUMAN, Q9NZC9
  • Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]: Causes spondyloepiphyseal dysplasia, renal
    dysfunction and T-cell immunodeficiency. Approximately half of all patients also exhibit hyperthyroidism, while
    around half also exhibit episodal cerebral ischemia. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 16 diseases for SMARCAL1:    
    About MalaCards
    schimke immunoosseous dysplasia    skin papilloma    evans' syndrome    steroid-resistant nephrotic syndrome
    nephrotic syndrome    focal segmental glomerulosclerosis    papilloma    t cell deficiency
    hyperthyroidism    breast and colorectal cancer    cerebritis    tuberculosis
    colorectal cancer    multiple myeloma    myeloma    malaria

    3 diseases from the University of Copenhagen DISEASES database for SMARCAL1:
    T cell deficiency     Nephrotic syndrome     Focal segmental glomerulosclerosis

    SMARCAL1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for SMARCAL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schimke immunoosseous dysplasia 96.1 4 19793864 (1), 19793861 (1), 19793862 (1)
    spondyloepiphyseal dysplasia 88.2 1 16237566 (1)
    dysplasia 66.5 12 18356746 (2), 20179009 (2), 18805831 (2), 16237566 (2) (see all 7)
    nephrotic syndrome 57.3 2 18356746 (1), 19127206 (1)
    immunodeficiency 38.9 2 18356746 (1), 16237566 (1)

    GeneTests: SMARCAL1
    GeneReviews: SMARCAL1
    Genetic Association Database (GAD): SMARCAL1
    Human Genome Epidemiology (HuGE) Navigator: SMARCAL1 (1 document)

    Export disorders for SMARCAL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SMARCAL1 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with SMARCAL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA- related SNF2 helicase protein from human and mouse. (PubMed id 10857751)1, 2, 3, 9 Coleman M.A.... Mohrenweiser H.W. (Genomics 2000)
    2. HARP is an ATP-driven annealing helicase. (PubMed id 18974355)1, 2, 3 Yusufzai T. and Kadonaga J.T. (Science 2008)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno- osseous dysplasia. (PubMed id 11799392)1, 2 Boerkoel C.F.... Stockton D.W. (Nat. Genet. 2002)
    7. A eukaryotic SWI2/SNF2 domain, an exquisite detector of double-stranded to single-stranded DNA transition elements. (PubMed id 10713074)1, 3 Muthuswami R....Hockensmith J.W. (J. Biol. Chem. 2000)
    8. Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. (PubMed id 18805831)1, 9 Elizondo L.I....Boerkoel C.F. (J. Med. Genet. 2009)
    9. The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks. (PubMed id 19793861)1, 9 Bansbach C.E....Cortez D. (amp 2009)
    10. Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype. (PubMed id 18356746)1, 9 Dekel B....Anikster Y. (Pediatr. Res. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 50485 HGNC: 11102 AceView: SMARCAL1 Ensembl:ENSG00000138375 euGenes: HUgn50485
    ECgene: SMARCAL1 H-InvDB: SMARCAL1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SMARCAL1 Pharmacogenomics, SNPs, Pathways
    SMARCAL1basehttp://bioinf.uta.fi/SMARCAL1base/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SMARCAL1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SMARCAL1 gene:
    Search GeneIP for patents involving SMARCAL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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