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SAP30L Gene

protein-coding   GIFtS: 52
GCID: GC05P153805

SAP30-Like

  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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
SAP30-like1 2     HCV Non-Structural Protein 4A-Transactivated Protein 22 3
Sin3 Corepressor Complex Subunit SAP30L2 3     Histone Deacetylase Complex Subunit SAP30L2
Sin3-Associated Protein P30-Like2 3     Sin3A Associated Protein P30-Like2
NS4ATP22 3     

External Ids:    HGNC: 256631   Entrez Gene: 796852   Ensembl: ENSG000001645767   OMIM: 6103985   UniProtKB: Q9HAJ73   
ORGUL members:         

Export aliases for SAP30L gene to outside databases

Previous GC identifers: GC05P153855 GC05P148966


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SAP30L Gene:
SAP30L (SAP30-like) is a protein-coding gene. Diseases associated with SAP30L include 5q- syndrome, and dengue hemorrhagic fever. An important paralog of this gene is SAP30.

UniProtKB/Swiss-Prot: SP30L_HUMAN, Q9HAJ7
Function: Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the
nucleolus




(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_000005.10  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the SAP30L gene promoter:
         HOXA9   HOXA9B   AML1a   POU3F1   Tal-1beta   Arnt   Meis-1b   NF-kappaB2   ITF-2   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SAP30L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SAP30L


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

Entrez Gene cytogenetic band: 5q33.2   Ensembl cytogenetic band:  5q33.2   HGNC cytogenetic band: 5q33.2

SAP30L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAP30L gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P153805:  view genomic region     (about GC identifiers)

Start:
153,825,517 bp from pter      End:
153,840,614 bp from pter
Size:
15,098 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SP30L_HUMAN, Q9HAJ7 (See protein sequence)
Recommended Name: Histone deacetylase complex subunit SAP30L  
Size: 183 amino acids; 20877 Da
Subunit: Interacts with components of the histone deacetylase complex SIN3A, HDAC1 and HDAC2. Interacts with FEZ1
Secondary accessions: E9PAU7 E9PAY2
Alternative splicing: 3 isoforms:  Q9HAJ7-1   Q9HAJ7-2   Q9HAJ7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SAP30L: NX_Q9HAJ7

Explore proteomics data for SAP30L at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SAP30L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001124534.1  NP_001124535.1  NP_078908.1  

    ENSEMBL proteins: 
     ENSP00000297109   ENSP00000390927   ENSP00000416393  
    Reactome Protein details: Q9HAJ7

    SAP30L Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SAP30L
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SAP30L
    GenScript Custom Purified and Recombinant Proteins Services for SAP30L
    Novus Biologicals SAP30L Protein
    Novus Biologicals SAP30L Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SAP30L

    SAP30L Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SAP30L
    OriGene Custom Antibody Services for SAP30L
    Novus Biologicals SAP30L Antibodies
    Abcam antibodies for SAP30L
    Cloud-Clone Corp. Antibodies for SAP30L
    ThermoFisher Antibodies for SAP30L
    LSBio Antibodies in human, mouse, rat for SAP30L

    SAP30L Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SAP30L
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SAP30L
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SAP30L
    Cloud-Clone Corp. CLIAs for SAP30L


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR024145 His_deAcase_SAP30/SAP30L
     IPR025717 SAP30_zn-finger
     IPR025718 SAP30_Sin3-bd

    Graphical View of Domain Structure for InterPro Entry Q9HAJ7

    ProtoNet protein and cluster: Q9HAJ7

    UniProtKB/Swiss-Prot: SP30L_HUMAN, Q9HAJ7
    Similarity: Belongs to the SAP30 family


    SAP30L 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: SP30L_HUMAN, Q9HAJ7
    Function: Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the
    nucleolus
    Induction: Up-regulated by TGFB1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0046872metal ion binding IEA--
         
    SAP30L for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SAP30L:
     Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SAP30L
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SAP30L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SAP30L
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SAP30L

    miRNA
    Products:
        
    miRTarBase miRNAs that target SAP30L:
    hsa-mir-100-5p (MIRT048488), hsa-mir-222-3p (MIRT046659), hsa-mir-155-5p (MIRT020717)

    Block miRNA regulation of human, mouse, rat SAP30L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SAP30L (see all 109):
    hsa-miR-140-5p hsa-miR-3916 hsa-miR-629* hsa-miR-3150b-3p hsa-miR-298 hsa-miR-3622b-3p hsa-miR-3116 hsa-miR-877
    SwitchGear 3'UTR luciferase reporter plasmidSAP30L 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SAP30L
    Predesigned siRNA for gene silencing in human, mouse, rat SAP30L

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SAP30L

    Clone
    Products:
         
    OriGene clones in human, mouse for SAP30L (see all 17)
    OriGene ORF clones in mouse, rat for SAP30L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SAP30L (NM_024632)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAP30L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAP30L

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SAP30L
    Browse ESI BIO Cell Lines and PureStem Progenitors for SAP30L 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAP30L


    (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
    SP30L_HUMAN, Q9HAJ7: Nucleus, nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    SAP30L 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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    Pathways by sourceSee SuperPaths
    Show all pathways


    1 Reactome Pathway for SAP30L
        NoRC negatively regulates rRNA expression



    SAP30L for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SAP30L
    Interactions:

        Search GeneGlobe Interaction Network for SAP30L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for SAP30L (Q9HAJ73 ENSP000002971094) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678703I2D: score=5 
    ENSG00000206406P678703I2D: score=5 
    ENSG00000224398P678703I2D: score=5 
    ENSG00000224774P678703I2D: score=5 
    ENSG00000228875P678703I2D: score=5 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--

    SAP30L 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 SAP30L (SP30L)



    (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,
    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 SAP30L gene (3 alternative transcripts): 
    NM_001131062.1  NM_001131063.1  NM_024632.5  

    Unigene Cluster for SAP30L:

    SAP30-like
    Hs.592566  [show with all ESTs]
    Unigene Representative Sequence: NR_024084
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297109(uc003lvm.4 uc003lvk.3 uc011ddc.2 uc011ddd.2)
    ENST00000523198 ENST00000440364 ENST00000426761 ENST00000520159 ENST00000519683
    ENST00000523029 ENST00000520731 ENST00000517926
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SAP30L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SAP30L (see all 109):
    hsa-miR-140-5p hsa-miR-3916 hsa-miR-629* hsa-miR-3150b-3p hsa-miR-298 hsa-miR-3622b-3p hsa-miR-3116 hsa-miR-877
    SwitchGear 3'UTR luciferase reporter plasmidSAP30L 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SAP30L
    Predesigned siRNA for gene silencing in human, mouse, rat SAP30L
    Clone
    Products:
         
    OriGene clones in human, mouse for SAP30L (see all 17)
    OriGene ORF clones in mouse, rat for SAP30L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SAP30L (NM_024632)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SAP30L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SAP30L
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SAP30L
    OriGene qSTAR qPCR primer pairs in human, mouse for SAP30L
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SAP30L
      QuantiTect SYBR Green Assays in human, mouse, rat SAP30L
      QuantiFast Probe-based Assays in human, mouse, rat SAP30L

    Additional mRNA sequence: 

    AF085957.1 AF157116.1 AK021588.1 AK027248.1 AL833219.1 AL833381.1 AY341060.1 AY846876.1 
    BC009829.2 NR_024084.1 

    11 DOTS entries:

    DT.452424  DT.446901  DT.98131731  DT.91654711  DT.100745269  DT.75107727  DT.109516  DT.120866507 
    DT.40111921  DT.92426593  DT.95266653 

    Selected AceView cDNA sequences (see all 163):

    BE044159 CK819538 BU629360 AA443161 AA693740 AI243153 AI130951 BE503956 
    AI222754 AI383405 AI278599 BE878694 AI707824 AW665409 CD674519 AI436254 
    BE503089 AI417549 AI823438 AA476991 BC009829 BM727121 AI144341 N36358 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SAP30L (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d · 5e
    SP1:                    -                                                   
    SP2:              -     -                                                   
    SP3:                    -                                                   
    SP4:        -     -     -                                                   
    SP5:        -     -     -     -                                             


    ECgene alternative splicing isoforms for SAP30L

    (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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    SAP30L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCAATATC
    SAP30L Expression
    About this image


    SAP30L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
    SAP30L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SAP30L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592566

    UniProtKB/Swiss-Prot: SP30L_HUMAN, Q9HAJ7
    Tissue specificity: Expressed in all tissues tested with highest levels in testis

        Custom PCR Arrays for SAP30L
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SAP30L
    OriGene qSTAR qPCR primer pairs in human, mouse for SAP30L
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SAP30L
    QuantiTect SYBR Green Assays in human, mouse, rat SAP30L
    QuantiFast Probe-based Assays in human, mouse, rat SAP30L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAP30L

    (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 animals.

    Orthologs for SAP30L gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sap30l1 , 5 SAP30-like1, 5 92.49(n)1
    96.7(a)1
      11 (35.27 cM)5
    507241  NM_001081168.11  NP_001074637.11 
     578016375 
    chicken
    (Gallus gallus)
    Aves SAP30L1 SAP30-like 83.55(n)
    93.42(a)
      416259  XM_001233439.3  XP_001233440.2 
    lizard
    (Anolis carolinensis)
    Reptilia SAP30L6
    SAP30-like
    90(a)
    1 ↔ 1
    GL343205.1(372039-381642)
    African clawed frog
    (Xenopus laevis)
    Amphibia flj11526-prov2 hypothetical protein MGC53653 81.4(n)    BC044334.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa26a112 Danio rerio cDNA clone IMAGE6801601, partial cds 87.4(n)    BC056705.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sap301 SIN3-associated polypeptide 30 64.02(n)
    60.98(a)
      32664  NM_132934.3  NP_573162.1 


    ENSEMBL Gene Tree for SAP30L (if available)
    TreeFam Gene Tree for SAP30L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SAP30L gene
    SAP302  
    1 SIMAP similar gene for SAP30L using alignment to 1 protein entry:     SP30L_HUMAN:
    SAP30

    SAP30L for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SAP30L
    PGOHUM00000236750


    (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 SAP30L (see all 280)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2005806851,2
    C--153827523(+) TTTTTC/TTTTTT 4 -- int10--------
    rs113438701,2
    C--153827553(+) TTTTT-/T/TT  
      T
    /TTTT
    GAGAC
    7 -- int1 cds1 trp32NA 4
    rs1916965211,2
    C--153827666(+) GAATAA/GCTGGG 4 -- int10--------
    rs1850815561,2
    --153827728(+) ATAGGG/TTTTCG 4 -- int10--------
    rs1427477371,2
    --153827854(+) CAGACG/TCTTCC 4 -- int10--------
    rs1510659601,2
    --153828020(+) GGTCTA/GGACAC 4 -- int10--------
    rs790347851,2
    C,F--153828052(+) CACACG/ATTGAG 4 -- int11Minor allele frequency- A:0.02NA 120
    rs1879544851,2
    --153828075(+) TGGCAA/GTGAAT 4 -- int10--------
    rs770568661,2
    C,F--153828263(+) ATTGAC/GTGTAC 4 -- int11Minor allele frequency- G:0.24EA 120
    rs1412801461,2
    --153828274(+) TGGAAA/GACCTG 4 -- int10--------

    HapMap Linkage Disequilibrium report for SAP30L (153825517 - 153840614 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SAP30L:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830520CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SAP30L
    DNA2.0 Custom Variant and Variant Library Synthesis for SAP30L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610398    OMIM disorders: --

    7 diseases for SAP30L:    
    About MalaCards
    5q- syndrome    dengue hemorrhagic fever    hemorrhagic fever    polycystic kidney disease
    kidney disease    malaria    alzheimer's disease


    SAP30L for disorders           About GeneDecksing

    Genetic Association Database (GAD): SAP30L
    Human Genome Epidemiology (HuGE) Navigator: SAP30L (1 document)

    Export disorders for SAP30L 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 SAP30L gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with SAP30L)
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    1. TGF-beta induces the expression of SAP30L, a novel nuclear protein. (PubMed id 14680513)1, 2, 3 Lindfors K....Kainulainen H. (BMC Genomics 2003)
    2. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PubMed id 20588308)1, 4 Silva L.K....Teixeira M.G. (Eur. J. Hum. Genet. 2010)
    3. SAP30L interacts with members of the Sin3A corepressor complex and targets Sin3A to the nucleolus. (PubMed id 16820529)1, 2 Viiri K.M.... Lohi O. (Nucleic Acids Res. 2006)
    4. FEZ1 dimerization and interaction with transcription regulatory proteins involves its coiled-coil region. (PubMed id 16484223)1, 2 Assmann E.M.... Kobarg J. (J. Biol. Chem. 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. (PubMed id 23535033)1 Sherva R....Green R.C. (amp 2014)
    7. The functional interactome landscape of the human histone deacetylase family. (PubMed id 23752268)1 Joshi P....Cristea I.M. (Mol. Syst. Biol. 2013)
    8. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    9. Chemoproteomics profiling of HDAC inhibitors reveals selective targeting of HDAC complexes. (PubMed id 21258344)1 Bantscheff M....Drewes G. (Nat. Biotechnol. 2011)
    10. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. (PubMed id 21076409)1 Sotoodehnia N....Arking D.E. (Nat. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79685 HGNC: 25663 AceView: SAP30L Ensembl:ENSG00000164576 euGenes: HUgn79685
    ECgene: SAP30L H-InvDB: SAP30L

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for SAP30L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SAP30L gene:
    Search GeneIP for patents involving SAP30L

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



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