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WHSC1L1 Gene

protein-coding   GIFtS: 58
GCID: GC08M038132

Wolf-Hirschhorn Syndrome Candidate 1-Like 1

  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
Wolf-Hirschhorn Syndrome Candidate 1-Like 11 2     WHSC1-Like Protein 12 3
NSD32 3 5     EC 2.1.1.433 8
Nuclear SET Domain-Containing Protein 32 3     Histone-Lysine N-Methyltransferase NSD32
Protein Whistle2 3     pp143282
WHSC1-Like 1 Isoform 9 With Methyltransferase Activity To Lysine2 3     Wolf-Hirschhorn Syndrome Candidate 1-Like Protein 13

External Ids:    HGNC: 127671   Entrez Gene: 549042   Ensembl: ENSG000001475487   OMIM: 6070835   UniProtKB: Q9BZ953   

Export aliases for WHSC1L1 gene to outside databases

Previous GC identifers: GC08M037671 GC08M038256 GC08M037873 GC08M038150 GC08M038151 GC08M038251 GC08M036666


(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 WHSC1L1 Gene:
This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP
(proline-tryptophan-tryptophan-proline) domains. The function of the protein has not been determined. Two
alternatively spliced variants have been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for WHSC1L1 Gene:
WHSC1L1 (Wolf-Hirschhorn syndrome candidate 1-like 1) is a protein-coding gene. Diseases associated with WHSC1L1 include wolf-hirschhorn syndrome, and acute myeloid leukemia. GO annotations related to this gene include histone-lysine N-methyltransferase activity. An important paralog of this gene is NSD1.

UniProtKB/Swiss-Prot: NSD3_HUMAN, Q9BZ95
Function: Histone methyltransferase. Preferentially methylates 'Lys-4' and 'Lys-27' of histone H3. H3 'Lys-4'
methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for
transcriptional repression

Gene Wiki entry for WHSC1L1 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_000008.11  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the WHSC1L1 gene promoter:
         HFH-3   Egr-1   FOXD3   XBP-1   LUN-1   Nkx2-5   LCR-F1   GATA-1   FOXI1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWHSC1L1 promoter sequence
   Search Chromatin IP Primers for WHSC1L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WHSC1L1


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

Entrez Gene cytogenetic band: 8p11.2   Ensembl cytogenetic band:  8p11.23   HGNC cytogenetic band: 8p11.2

WHSC1L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WHSC1L1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M038132:  view genomic region     (about GC identifiers)

Start:
38,127,215 bp from pter      End:
38,239,790 bp from pter
Size:
112,576 bases      Orientation:
minus 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: NSD3_HUMAN, Q9BZ95 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase NSD3  
Size: 1437 amino acids; 161613 Da
Subunit: Interacts with BRD4
Sequence caution: Sequence=AAG44637.1; Type=Frameshift; Positions=Several; Sequence=AAI07735.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA91110.1; Type=Erroneous
initiation;
5 PDB 3D structures from and Proteopedia for WHSC1L1:
2DAQ (3D)        4GND (3D)        4GNE (3D)        4GNF (3D)        4GNG (3D)    
Secondary accessions: D3DSX1 Q1RMD3 Q3B796 Q6ZSA5 Q9BYU8 Q9BYU9 Q9H2M8 Q9H9W9 Q9NXA6
Alternative splicing: 4 isoforms:  Q9BZ95-1   Q9BZ95-2   Q9BZ95-3   Q9BZ95-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WHSC1L1: NX_Q9BZ95

Explore proteomics data for WHSC1L1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1065
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for WHSC1L1 (Q9BZ95) (see all 9)
     CGKFYHE  WWPAEIC  ELTFNYN  RCPVAYH 


    See WHSC1L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_060248.2  NP_075447.1  

    ENSEMBL proteins: 
     ENSP00000313983   ENSP00000393284   ENSP00000434730   ENSP00000313410   ENSP00000435073  
     ENSP00000435422   ENSP00000432544   ENSP00000431598  

    WHSC1L1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for WHSC1L1

    WHSC1L1 Antibody Products:

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    WHSC1L1 Assay Products:

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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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    Selected InterPro protein domains (see all 10):
     IPR001214 SET_dom
     IPR001841 Znf_RING
     IPR001965 Znf_PHD
     IPR003616 Post-SET_dom
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q9BZ95

    ProtoNet protein and cluster: Q9BZ95

    5 Blocks protein domains:
    IPB000313 PWWP domain
    IPB001214 Nuclear protein SET
    IPB001841 Zn-finger
    IPB001965 Zn-finger-like
    IPB003616 SET-related region


    UniProtKB/Swiss-Prot: NSD3_HUMAN, Q9BZ95
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. SET2 subfamily
    Similarity: Contains 1 AWS domain
    Similarity: Contains 4 PHD-type zinc fingers
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 2 PWWP domains
    Similarity: Contains 1 SET domain


    WHSC1L1 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: NSD3_HUMAN, Q9BZ95
    Function: Histone methyltransferase. Preferentially methylates 'Lys-4' and 'Lys-27' of histone H3. H3 'Lys-4'
    methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for
    transcriptional repression
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Number (IUBMB): EC 2.1.1.431 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0018024histone-lysine N-methyltransferase activity IDA16682010
         
    WHSC1L1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for WHSC1L1:
     Increased cell death HMECs cel 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WHSC1L1
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    miRNA
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    miRTarBase miRNAs that target WHSC1L1:
    hsa-mir-375 (MIRT020035), hsa-mir-10b-5p (MIRT047495), hsa-mir-192-5p (MIRT026836), hsa-mir-196b-5p (MIRT042677), hsa-mir-155-5p (MIRT021058), hsa-mir-301a-3p (MIRT044223), hsa-mir-21-5p (MIRT031070)

    Block miRNA regulation of human, mouse, rat WHSC1L1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate WHSC1L1 (see all 39):
    hsa-let-7a-2* hsa-miR-301a hsa-miR-508-3p hsa-miR-4267 hsa-miR-374c hsa-miR-4314 hsa-miR-192* hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidWHSC1L1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for WHSC1L1
    Predesigned siRNA for gene silencing in human, mouse, rat WHSC1L1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WHSC1L1


    (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
    NSD3_HUMAN, Q9BZ95: Nucleus (By similarity). Chromosome (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    mitochondrion3
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IC16682010
    GO:0005694chromosome IEA--

    WHSC1L1 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 WHSC1L1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for WHSC1L1):
        Lysine degradation


    WHSC1L1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WHSC1L1
    Interactions:

        Search GeneGlobe Interaction Network for WHSC1L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for WHSC1L1 (Q9BZ951, 3 ENSP000003139834) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCNT1O605633, ENSP000002619004I2D: score=1 STRING: ENSP00000261900
    KDM1BQ8NB783, ENSP000002977924I2D: score=1 STRING: ENSP00000297792
    CBX3Q131853, ENSP000003366874I2D: score=3 STRING: ENSP00000336687
    CBX5P459733I2D: score=1 
    DAXXQ9UER71EBI-3390132,EBI-77321
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0016049cell growth ----
    GO:0016571histone methylation IDA16682010
    GO:0030154cell differentiation ----

    WHSC1L1 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 WHSC1L1 (NSD3)

    3 HMDB Compounds for WHSC1L1    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--



    (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 WHSC1L1 gene (2 alternative transcripts): 
    NM_017778.2  NM_023034.1  

    Unigene Cluster for WHSC1L1:

    Wolf-Hirschhorn syndrome candidate 1-like 1
    Hs.608111  [show with all ESTs]
    Unigene Representative Sequence: AF332469
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000317025(uc003xli.3 uc011lbm.2 uc010lwe.3) ENST00000433384
    ENST00000528828(uc003xlh.3) ENST00000527502 ENST00000526050 ENST00000528304
    ENST00000316985(uc003xlj.3) ENST00000525081 ENST00000528627 ENST00000529223
    ENST00000534155 ENST00000534539
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate WHSC1L1 (see all 39):
    hsa-let-7a-2* hsa-miR-301a hsa-miR-508-3p hsa-miR-4267 hsa-miR-374c hsa-miR-4314 hsa-miR-192* hsa-miR-130b
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      QuantiTect SYBR Green Assays in human, mouse, rat WHSC1L1
      QuantiFast Probe-based Assays in human, mouse, rat WHSC1L1

    Additional mRNA sequence: 

    AF255649.1 AF318339.1 AF332468.1 AF332469.1 AJ295990.1 AJ295991.1 AJ295992.1 AK000360.1 
    AK092166.1 AK127594.1 AL832895.1 BC000030.2 BC007787.2 BC012059.1 BC062631.1 BC073858.1 
    BC101717.1 BC107734.1 BC113469.1 BC115006.1 BC115007.1 BC115008.1 BC143510.1 

    22 DOTS entries:

    DT.445237  DT.100025618  DT.92004401  DT.95073147  DT.101984312  DT.121476077  DT.95073143  DT.121476066 
    DT.91946192  DT.419400  DT.97786409  DT.121476102  DT.302788  DT.95225167  DT.121476016  DT.121476060 
    DT.121476067  DT.121476074  DT.121476123  DT.40195896  DT.92438566  DT.95073144 

    Selected AceView cDNA sequences (see all 345):

    AK022560 CB216161 BM675546 AW051568 AW236568 BM695632 AU134464 BQ954882 
    AA564725 CD676194 AA789085 AA830714 BM767255 BM464423 AA744386 AW661967 
    AI697751 AK092166 AA262703 AW073969 BF897866 Z41537 AL702951 BM984957 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for WHSC1L1 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:              -     -                                                                             -           -                                             
    SP2:              -     -                                                                             -           -                                   -         
    SP3:              -     -                                                                             -                                                         
    SP4:              -     -                                                                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b
    SP1:                                      -                                 
    SP2:                                      -                                 
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                -     -                                 


    ECgene alternative splicing isoforms for WHSC1L1

    (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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    WHSC1L1 expression in normal human tissues (normalized intensities)      WHSC1L1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    WHSC1L1 Expression
    About this image


    WHSC1L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    WHSC1L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WHSC1L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.608111

    UniProtKB/Swiss-Prot: NSD3_HUMAN, Q9BZ95
    Tissue specificity: Highly expressed in brain, heart and skeletal muscle. Expressed at lower level in liver and
    lung

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    (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 WHSC1L1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Whsc1l11 , 5 Wolf-Hirschhorn syndrome candidate 1-like 1 (human)1, 5 88.49(n)1
    91.85(a)1
      8 (14.17 cM)5
    2341351  NM_001081269.11  NP_001074738.11 
     256016015 
    chicken
    (Gallus gallus)
    Aves WHSC1L11 Wolf-Hirschhorn syndrome candidate 1-like 1 82.4(n)
    87.2(a)
      426778  XM_004947589.1  XP_004947646.1 
    lizard
    (Anolis carolinensis)
    Reptilia WHSC1L16
    Wolf-Hirschhorn syndrome candidate 1-like 1
    84(a)
    1 ↔ 1
    GL343418.1(52530-84798)
    zebrafish
    (Danio rerio)
    Actinopterygii whsc1l11 Wolf-Hirschhorn syndrome candidate 1-like 1 63.73(n)
    64.89(a)
      100006350  XM_005155323.1  XP_005155380.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mes-46
    Mes-4
    24(a)
    1 → many
    3R(23758704-23763571)
    worm
    (Caenorhabditis elegans)
    Secernentea set-126
    Protein SET-12 (set-12) mRNA, complete cds
    26(a)
    many ↔ many
    X(7733339-7736270) WBGene00019584


    ENSEMBL Gene Tree for WHSC1L1 (if available)
    TreeFam Gene Tree for WHSC1L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WHSC1L1 gene
    NSD12  ASH1L2  WHSC12  SUV39H22  SETBP12  SETDB22  SUV39H12  SETD22  
    EHMT12  EHMT22  SETMAR2  SETDB12  
    5 SIMAP similar genes for WHSC1L1 using alignment to 6 protein entries:     NSD3_HUMAN (see all proteins):
    DKFZp666C163    AIRE    WHSC1    NSD1    FP13812

    WHSC1L1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for WHSC1L1
    PGOHUM00000237079 PGOHUM00000249565


    (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 WHSC1L1 (see all 1769)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1846441991,2
    --36666204(+) TCAGAA/C/TGACAA 1 -- ds50010--------
    rs1421226921,2
    --36666228(+) GTAGGA/CGAGGA 1 -- ds50010--------
    rs100886311,2
    C,F,H--36666352(+) ATCCCC/TCTTTA 1 -- ds500110Minor allele frequency- T:0.05NS NA CSA WA 1013
    rs1172503031,2
    F--36666466(+) AAAACG/ATTTTA 1 -- ds50011Minor allele frequency- A:0.01EA 120
    rs1446307121,2
    C--36666639(+) ATAGA-/GCCCTTC 1 -- ut310--------
    rs1507346151,2
    C--36667048(+) ATCAAA/GCAAAA 1 -- ut310--------
    rs2011998731,2
    --36667438(+) CGCACC/TGATGC 2 Q R mis10--------
    rs14889341,2
    C,F,O,A,H--36667674(+) ACCTAC/TGGGAA 1 -- int121Minor allele frequency- T:0.26NS EA NA WA CSA 2347
    rs776805041,2
    C,F--36667753(+) CCAGCG/ATAATT 1 -- int12Minor allele frequency- A:0.04CSA WA 119
    rs1898989161,2
    --36667763(+) TTTTCA/GCTATT 1 -- int10--------

    HapMap Linkage Disequilibrium report for WHSC1L1 (38127215 - 38239790 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for WHSC1L1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2665656CNV Deletion23128226
    esv2675588CNV Deletion23128226
    nsv824602CNV Loss20364138
    esv1006743CNV Loss20482838
    nsv528419CNV Loss19592680

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    (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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    OMIM gene information: 607083   
    OMIM disorders: 601626  
    UniProtKB/Swiss-Prot: NSD3_HUMAN, Q9BZ95
  • Note=Defects in WHSC1L1 may be involved in non small cell lung carcinomas (NSCLC). Amplified or
    overexpressed in NSCLC
  • Note=A chromosomal aberration involving WHSC1L1 is found in childhood acute myeloid leukemia.
    Translocation t(8;11)(p11.2;p15) with NUP98

  • 10 diseases for WHSC1L1:    About MalaCards
    wolf-hirschhorn syndrome    acute myeloid leukemia    sotos syndrome    myeloid leukemia
    leukemia    schizophrenia    lung cancer    breast cancer
    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for WHSC1L1:
    Wolf-Hirschhorn syndrome     Sotos syndrome

    WHSC1L1 for disorders           About GeneDecksing


    Export disorders for WHSC1L1 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 WHSC1L1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with WHSC1L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3. (PubMed id 11549311)1, 2, 9 Stec I.... den Dunnen J.T. (Genomics 2001)
    2. The methyltransferase NSD3 has chromatin-binding motifs, PHD5-C5HCH, that are distinct from other NSD (nuclear receptor SET domain) family members in their histone H3 recognition. (PubMed id 23269674)1, 3 He C....Shi Y. (J. Biol. Chem. 2013)
    3. The Brd4 extraterminal domain confers transcription activation independent of pTEFb by recruiting multiple proteins, including NSD3. (PubMed id 21555454)1, 2 Rahman S....Howley P.M. (Mol. Cell. Biol. 2011)
    4. Characterization of a novel WHSC1-associated SET domain protein with H3K4 and H3K27 methyltransferase activity. (PubMed id 16682010)1, 2 Kim S.M.... Seo S.B. (Biochem. Biophys. Res. Commun. 2006)
    5. High-resolution genomic profiles of human lung cancer. (PubMed id 15983384)1, 2 Tonon G.... Depinho R.A. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). (PubMed id 11986249)1, 2 Rosati R.... Mecucci C. (Blood 2002)
    9. NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines. (PubMed id 11374904)1, 2 Angrand P.-O....Chambon P. (Genomics 2001)
    10. The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation? (PubMed id 10802047)1, 3 Stec I....den Dunnen J.T. (FEBS Lett. 2000)

    (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: 54904 HGNC: 12767 AceView: WHSC1L1 Ensembl:ENSG00000147548 euGenes: HUgn54904
    ECgene: WHSC1L1 Kegg: 54904 H-InvDB: WHSC1L1

    (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 WHSC1L1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for WHSC1L1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for WHSC1L1 gene:
    Search GeneIP for patents involving WHSC1L1

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



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