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    WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 [ Homo sapiens ]

    Gene ID: 54904, updated on 5-Feb-2012

    Summary

    Official Symbol
    WHSC1L1provided by HGNC
    Official Full Name
    Wolf-Hirschhorn syndrome candidate 1-like 1provided by HGNC
    Primary source
    HGNC:12767
    Locus tag
    DC28
    See related
    Ensembl:ENSG00000147548; HPRD:06155; MIM:607083; Vega:OTTHUMG00000165115
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NSD3; pp14328
    Summary
    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]

    Genomic context

    Location :
    8p11.2
    Sequence :
    Chromosome: 8; NC_000008.10 (38132560..38239790, complement)
    See WHSC1L1 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene DDHD domain containing 2 Neighboring gene phosphatidic acid phosphatase type 2 domain containing 1B Neighboring gene leucine zipper-EF-hand containing transmembrane protein 2 Neighboring gene fibroblast growth factor receptor 1 Neighboring gene ribosomal protein S20 pseudogene 22

    Genomic regions, transcripts, and products

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:120250 BioGRID:116463 CBX3    BioGRID  PubMed Two-hybrid 
    BioGRID:120250 BioGRID:107343 CCNT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:120250 BioGRID:128743 KDM1B    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Clone Names

    • FLJ20353, MGC126766, MGC142029, DKFZp667H044

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    histone-lysine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell differentiation NAS
    Non-traceable Author Statement
    more info
     
    cell growth NAS
    Non-traceable Author Statement
    more info
     
    chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    histone lysine methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IC
    Inferred by Curator
    more info
    PubMed 

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase NSD3
    Names
    histone-lysine N-methyltransferase NSD3
    protein whistle
    WHSC1-like protein 1
    nuclear SET domain-containing protein 3
    WHSC1-like 1 isoform 9 with methyltransferase activity to lysine
    NP_060248.2
    NP_075447.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023292.1 RefSeqGene

      Range
      5001..112231
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017778.2NP_060248.2  histone-lysine N-methyltransferase NSD3 isoform short

      Status: REVIEWED

      Description
      Transcript variant: This variant (short) contains an alternative 3' end sequence. The shorter protein encoded has a different carboxy terminus than the protein encoded by variant long.
      Source sequence(s)
      AF332468
      Consensus CDS
      CCDS6105.1
      UniProtKB/Swiss-Prot
      Q9BZ95
      Related
      ENSP00000313410, OTTHUMP00000228479, ENST00000316985, OTTHUMT00000381925
      Conserved Domains (1) summary
      cd05837
      Location:267383
      Blast Score: 409
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    2. NM_023034.1NP_075447.1  histone-lysine N-methyltransferase NSD3 isoform long

      Status: REVIEWED

      Description
      Transcript variant: This variant (long) contains an alternative 3' end sequence. The longer protein encoded has a different carboxy terminus than the protein encoded by variant short.
      Source sequence(s)
      AF332469
      Consensus CDS
      CCDS43729.1
      UniProtKB/Swiss-Prot
      Q9BZ95
      Related
      ENSP00000313983, OTTHUMP00000228478, ENST00000317025, OTTHUMT00000381924
      Conserved Domains (6) summary
      COG5034
      Location:613746
      Blast Score: 89
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd05837
      Location:267383
      Blast Score: 410
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cd05838
      Location:9581051
      Blast Score: 450
      WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
      smart00570
      Location:10941144
      Blast Score: 140
      AWS; associated with SET domains
      cl02566
      Location:11451268
      Blast Score: 377
      SET; SET domain
      cl15348
      Location:915955
      Blast Score: 111
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p5 Primary Assembly

      Range
      38132560..38239790, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      36666622..36774003, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC087362.13 (35039..142169) None
    genomic AC087623.21 (130052..130151) None
    genomic CH471080.2 EAW63319.1
      EAW63320.1
      EAW63321.1
      EAW63322.1
    mRNA AF255649.1 AAG44637.1
    mRNA AF318339.1 AAL55846.1
    mRNA AF332468.1 AAK00354.1
    mRNA AF332469.1 AAK00355.1
    mRNA AJ295990.1 CAC28350.1
    mRNA AJ295991.1 CAC28351.1
    mRNA AJ295992.1 CAC28352.1
    mRNA AK000360.1 BAA91110.1
    mRNA AK022560.1 BAB14099.1
    mRNA AK127594.1 None
    mRNA AL832895.1 None
    mRNA BC000030.2 None
    mRNA BC007787.2 None
    mRNA BC012059.1 AAH12059.1
    mRNA BC062631.1 AAH62631.1
    mRNA BC073858.1 None
    mRNA BC101717.1 AAI01718.1
    mRNA BC107734.1 AAI07735.1
    mRNA BC113469.1 AAI13470.1
    mRNA BC115006.1 AAI15007.1
    mRNA BC115007.1 None
    mRNA BC143510.1 AAI43511.1
    other-genetic JF432144.1 ADZ15361.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    Q8WYV9 GenPept UniProtKB/TrEMBL:Q8WYV9
    Q9BZ95.1 GenPept UniProtKB/Swiss-Prot:Q9BZ95

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