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SP140L Gene

protein-coding   GIFtS: 45
GCID: GC02P231191

SP140 Nuclear Body Protein-Like

  Search for SP140L
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
SP140 Nuclear Body Protein-Like1 2
Nuclear Body Protein SP140-Like Protein2
SP140L-1 Protein2
SP140L-2 Protein2
SP140L-3 Protein2

External Ids:    HGNC: 251051   Entrez Gene: 933492   Ensembl: ENSG000001854047   UniProtKB: Q9H9303   

Export aliases for SP140L gene to outside databases

Previous GC identifers: GC02P230900 GC02P223032


(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 SP140L Gene:
SP140L (SP140 nuclear body protein-like) is a protein-coding gene. An important paralog of this gene is SP100.


(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 SP140L gene promoter:
         GR   AML1a   Tal-1beta   HNF-3beta   GATA-1   Pax-3   POU2F1   POU2F1a   GR-alpha   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSP140L promoter sequence
   Search Chromatin IP Primers for SP140L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SP140L


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

Entrez Gene cytogenetic band: 2q37.1   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37.1

SP140L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SP140L gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P231191:  view genomic region     (about GC identifiers)

Start:
231,191,894 bp from pter      End:
231,268,447 bp from pter
Size:
76,554 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: SP14L_HUMAN, Q9H930 (See protein sequence)
Recommended Name: Nuclear body protein SP140-like protein  
Size: 580 amino acids; 67005 Da
Sequence caution: Sequence=AAX88869.1; Type=Erroneous gene model prediction; Sequence=BAB14413.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: Q2M375 Q4ZG65 Q9BSP3
Alternative splicing: 4 isoforms:  Q9H930-4   Q9H930-1   Q9H930-2   Q9H930-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SP140L: NX_Q9H930

Explore proteomics data for SP140L at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys207, Lys238, Lys389
  • Modification sites at PhosphoSitePlus

  • See SP140L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_612411.4  
    ENSEMBL proteins: 
     ENSP00000395195   ENSP00000397911   ENSP00000395223   ENSP00000243810   ENSP00000379811  

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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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    HGNC Gene Families:
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 9):
     IPR019786 Zinc_finger_PHD-type_CS
     IPR001965 Znf_PHD
     IPR001487 Bromodomain
     IPR010919 SAND_dom-like
     IPR004865 Sp100

    Graphical View of Domain Structure for InterPro Entry Q9H930

    ProtoNet protein and cluster: Q9H930

    2 Blocks protein domains:
    IPB000770 SAND domain
    IPB010919 SAND-like


    UniProtKB/Swiss-Prot: SP14L_HUMAN, Q9H930
    Similarity: Contains 1 bromo domain
    Similarity: Contains 1 HSR domain
    Similarity: Contains 1 PHD-type zinc finger
    Similarity: Contains 1 SAND domain


    SP140L 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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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    SP140L for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SP140L:
     Decreased viability of wild-ty 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SP140L
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    SP140L 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SP140L
    Interactions:

        Search GeneGlobe Interaction Network for SP140L

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SP140L (ENSP000003979114) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 SP140L (SP14L)



    (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 SP140L gene: 
    NM_138402.4  

    Unigene Cluster for SP140L:

    SP140 nuclear body protein-like
    Hs.589661  [show with all ESTs]
    Unigene Representative Sequence: NM_138402
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000444636 ENST00000415673(uc010fxm.1) ENST00000458341(uc010fxn.2)
    ENST00000483728 ENST00000462156 ENST00000496870 ENST00000466656 ENST00000497212
    ENST00000243810 ENST00000396563(uc010fxo.1)
    miRNA
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    Inhib. RNA
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat SP140L

    Additional mRNA sequence: 

    AK093187.1 BC004921.2 BC105007.1 BC143624.1 

    14 DOTS entries:

    DT.97840172  DT.91715161  DT.40131632  DT.100740297  DT.75164811  DT.95201549  DT.95215254  DT.120949411 
    DT.91984281  DT.99986225  DT.100777867  DT.40306918  DT.95116766  DT.95311186 

    9 AceView cDNA sequences:

    AI810978 AI810878 AA688226 BF002973 BC004921 BG335937 BG335812 BX480665 
    BE278323 

    GeneLoc Exon Structure


    (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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    SP140L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCGCCCGC
    SP140L Expression
    About this image

    SP140L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SP140L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.589661
        Custom PCR Arrays for SP140L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SP140L

    (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 chordates.

    Orthologs for SP140L gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii BX569789.26
    zgc:1134116
    (see all 3)
    zgc:113411
    (see all 3)
    33(a)
    24(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    3(24837780-24845598) ENSDARG00000055359
    3(24932187-24941134) ENSDARG00000038133
            Species with no ortholog for SP140L

    ENSEMBL Gene Tree for SP140L (if available)
    TreeFam Gene Tree for SP140L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SP140L gene
    SP1002  SP1102  SP1402  
    6 SIMAP similar genes for SP140L using alignment to 5 protein entries:     SP14L_HUMAN (see all proteins):
    SP100    SP140    AIRE    FLJ00340    SP110    DKFZp686E07254

    SP140L for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SP140L
    PGOHUM00000240546


    (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 SP140L (see all 1696)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422045841,2
    C--231189993(+) CCTGTC/GTGACA 1 -- us2k10--------
    rs1888768301,2
    --231190088(+) AGCTCA/TTTGGT 1 -- us2k10--------
    rs2016524071,2
    C--231190139(+) TACATA/TTGTCA 1 -- us2k10--------
    rs1815071091,2
    --231190184(+) AAGAGA/CAGTGA 1 -- us2k10--------
    rs92886661,2
    C,F,H--231190226(+) GTGTGG/ATCCGC 1 -- us2k15Minor allele frequency- A:0.02NS EA WA 538
    rs18347481,2
    C,F,A,H--231190247(-) GCAGCG/ACTGAC 1 -- us2k112Minor allele frequency- A:0.09EA NS NA WA CSA 659
    rs1863316001,2
    --231190381(+) ACCTAC/GAGGTG 1 -- us2k10--------
    rs1459510421,2
    --231190402(+) GATAGA/CAACAG 1 -- us2k10--------
    rs173309631,2
    C,F,H--231190446(+) GTGTCC/TTGGCA 1 -- us2k123Minor allele frequency- N:0.00NA EA NS WA CSA 2552
    rs1394598601,2
    C--231190627(+) TCTGCC/TCTCTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SP140L (231191894 - 231268447 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SP140L (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721596CNV Deletion23290073
    esv2673997CNV Deletion23128226
    esv2721594CNV Deletion23290073
    esv2625322CNV Deletion19546169
    nsv508889CNV Insertion20534489
    esv29172CNV Loss19812545
    esv993570CNV Loss20482838
    nsv819175CNV Loss19587683
    nsv875947CNV Loss21882294
    nsv521344CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SP140L
    DNA2.0 Custom Variant and Variant Library Synthesis for SP140L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    SP140L for disorders           About GeneDecksing

    Genetic Association Database (GAD): SP140L
    Human Genome Epidemiology (HuGE) Navigator: SP140L (2 documents)

    Export disorders for SP140L 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 SP140L gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with SP140L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. A genome-wide association study of behavioral disinhibition. (PubMed id 23942779)1 McGue M....Iacono W.G. (Behav. Genet. 2013)
    6. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (amp 2011)
    10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 93349 HGNC: 25105 AceView: LOC93349 Ensembl:ENSG00000185404 euGenes: HUgn93349
    ECgene: SP140L H-InvDB: SP140L

    (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 SP140L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SP140L gene:
    Search GeneIP for patents involving SP140L

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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