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Aliases for WHSC1L1 Gene

Aliases for WHSC1L1 Gene

  • Wolf-Hirschhorn Syndrome Candidate 1-Like 1 2 3
  • NSD3 3 4 6
  • WHSC1-Like 1 Isoform 9 With Methyltransferase Activity To Lysine 3 4
  • Nuclear SET Domain-Containing Protein 3 3 4
  • WHSC1-Like Protein 1 3 4
  • Protein Whistle 3 4
  • EC 2.1.1.43 4 63
  • Wolf-Hirschhorn Syndrome Candidate 1-Like Protein 1 4
  • Histone-Lysine N-Methyltransferase NSD3 3
  • Pp14328 3

External Ids for WHSC1L1 Gene

Previous GeneCards Identifiers for WHSC1L1 Gene

  • GC08M037671
  • GC08M038256
  • GC08M037873
  • GC08M038150
  • GC08M038151
  • GC08M036666
  • GC08M038132

Summaries for WHSC1L1 Gene

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 leukemia, acute myeloid. Among its related pathways are Lysine degradation. GO annotations related to this gene include histone-lysine N-methyltransferase activity. An important paralog of this gene is EHMT1.

UniProtKB/Swiss-Prot for WHSC1L1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WHSC1L1 Gene

Genomics for WHSC1L1 Gene

Regulatory Elements for WHSC1L1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for WHSC1L1 Gene

Start:
38,269,697 bp from pter
End:
38,382,354 bp from pter
Size:
112,658 bases
Orientation:
Minus strand

Genomic View for WHSC1L1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for WHSC1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WHSC1L1 Gene

Proteins for WHSC1L1 Gene

  • Protein details for WHSC1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZ95-NSD3_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase NSD3
    Protein Accession:
    Q9BZ95
    Secondary Accessions:
    • B7ZL11
    • D3DSX1
    • Q1RMD3
    • Q3B796
    • Q6ZSA5
    • Q9BYU8
    • Q9BYU9
    • Q9H2M8
    • Q9H9W9
    • Q9NXA6

    Protein attributes for WHSC1L1 Gene

    Size:
    1437 amino acids
    Molecular mass:
    161613 Da
    Quaternary structure:
    • Interacts with BRD4.
    SequenceCaution:
    • Sequence=AAG44637.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAI07735.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91110.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for WHSC1L1 Gene

    Alternative splice isoforms for WHSC1L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WHSC1L1 Gene

Proteomics data for WHSC1L1 Gene at MOPED

Selected DME Specific Peptides for WHSC1L1 Gene

Post-translational modifications for WHSC1L1 Gene

  • Ubiquitination at Lys1065
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains for WHSC1L1 Gene

Suggested Antigen Peptide Sequences for WHSC1L1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZ95

UniProtKB/Swiss-Prot:

NSD3_HUMAN :
  • Q9BZ95
Domain:
  • Contains 1 AWS domain.
  • Contains 1 post-SET domain.
  • Contains 2 PWWP domains.
  • Contains 1 SET domain.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
Similarity:
  • Contains 4 PHD-type zinc fingers.
genes like me logo Genes that share domains with WHSC1L1: view

No data available for Gene Families for WHSC1L1 Gene

Function for WHSC1L1 Gene

Molecular function for WHSC1L1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for WHSC1L1 Gene

Gene Ontology (GO) - Molecular Function for WHSC1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23455924
GO:0008270 zinc ion binding IEA --
GO:0018024 histone-lysine N-methyltransferase activity IDA 16682010
GO:0042800 histone methyltransferase activity (H3-K4 specific) IEA --
GO:0046976 histone methyltransferase activity (H3-K27 specific) IEA --
genes like me logo Genes that share ontologies with WHSC1L1: view

Phenotypes for WHSC1L1 Gene

GenomeRNAi human phenotypes for WHSC1L1:
genes like me logo Genes that share phenotypes with WHSC1L1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for WHSC1L1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for WHSC1L1 Gene

Localization for WHSC1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WHSC1L1 Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WHSC1L1 Gene COMPARTMENTS Subcellular localization image for WHSC1L1 gene
Compartment Confidence
nucleus 4
mitochondrion 3
cytosol 1

Gene Ontology (GO) - Cellular Components for WHSC1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC 16682010
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with WHSC1L1: view

Pathways for WHSC1L1 Gene

SuperPathways for WHSC1L1 Gene

Superpath Contained pathways
1 Lysine degradation
genes like me logo Genes that share pathways with WHSC1L1: view

Pathways by source for WHSC1L1 Gene

1 KEGG pathway for WHSC1L1 Gene

Gene Ontology (GO) - Biological Process for WHSC1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0016571 histone methylation IDA 16682010
GO:0034968 histone lysine methylation --
genes like me logo Genes that share ontologies with WHSC1L1: view

Compounds for WHSC1L1 Gene

(3) HMDB Compounds for WHSC1L1 Gene

Compound Synonyms Cas Number PubMed IDs
L-Lysine
  • (+)-S-Lysine
56-87-1
S-Adenosylhomocysteine
  • (S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine
979-92-0
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0
genes like me logo Genes that share compounds with WHSC1L1: view

Transcripts for WHSC1L1 Gene

Unigene Clusters for WHSC1L1 Gene

Wolf-Hirschhorn syndrome candidate 1-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for WHSC1L1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WHSC1L1 Gene

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:
SP6:
SP7: -
SP8:
SP9:

ExUns: 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b
SP1: -
SP2: -
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9:

Relevant External Links for WHSC1L1 Gene

GeneLoc Exon Structure for
WHSC1L1
ECgene alternative splicing isoforms for
WHSC1L1

Expression for WHSC1L1 Gene

mRNA expression in normal human tissues for WHSC1L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for WHSC1L1 Gene

This gene is overexpressed in Blymphocyte (19.9), CD4 Tcells (12.3), Peripheral blood mononuclear cells (9.8), and CD8 Tcells (8.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for WHSC1L1 Gene

SOURCE GeneReport for Unigene cluster for WHSC1L1 Gene Hs.608111

mRNA Expression by UniProt/SwissProt for WHSC1L1 Gene

Q9BZ95-NSD3_HUMAN
Tissue specificity: Highly expressed in brain, heart and skeletal muscle. Expressed at lower level in liver and lung.
genes like me logo Genes that share expressions with WHSC1L1: view

Expression partners for WHSC1L1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for WHSC1L1 Gene

Orthologs for WHSC1L1 Gene

This gene was present in the common ancestor of animals.

Orthologs for WHSC1L1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WHSC1L1 35
  • 87.94 (n)
  • 92.69 (a)
WHSC1L1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WHSC1L1 35
  • 94.27 (n)
  • 96.38 (a)
WHSC1L1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Whsc1l1 35
  • 88.49 (n)
  • 91.85 (a)
Whsc1l1 16
Whsc1l1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WHSC1L1 35
  • 99.79 (n)
  • 99.65 (a)
WHSC1L1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Whsc1l1 35
  • 87.36 (n)
  • 90.63 (a)
oppossum
(Monodelphis domestica)
Mammalia WHSC1L1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WHSC1L1 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves WHSC1L1 35
  • 82.4 (n)
  • 87.2 (a)
WHSC1L1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WHSC1L1 36
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii whsc1l1 35
  • 63.73 (n)
  • 64.89 (a)
whsc1l1 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mes-4 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea set-12 36
  • 26 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.390 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9549 36
  • 51 (a)
OneToMany
Species with no ortholog for WHSC1L1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for WHSC1L1 Gene

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

Paralogs for WHSC1L1 Gene

Selected SIMAP similar genes for WHSC1L1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for WHSC1L1 Gene

genes like me logo Genes that share paralogs with WHSC1L1: view

Variants for WHSC1L1 Gene

Sequence variations from dbSNP and Humsavar for WHSC1L1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs13034 - 38,347,615(+) ATTTC(A/G)TGTGC reference, missense
rs405296 -- 38,308,663(-) ttttt(A/T)ttttt intron-variant
rs417256 -- 38,338,117(+) caaca(C/T)agtga intron-variant
rs453029 -- 38,308,642(+) agtaa(A/G)acccc intron-variant
rs747464 -- 38,305,073(-) TAAAT(C/T)CAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WHSC1L1 Gene

Variant ID Type Subtype PubMed ID
esv2665656 CNV Deletion 23128226
esv2675588 CNV Deletion 23128226
nsv528419 CNV Loss 19592680
esv1006743 CNV Loss 20482838
nsv824602 CNV Loss 20364138

Relevant External Links for WHSC1L1 Gene

HapMap Linkage Disequilibrium report
WHSC1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WHSC1L1 Gene

Disorders for WHSC1L1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for WHSC1L1 Gene in MalaCards »

(1) Diseases for WHSC1L1 Gene including...

(1) OMIM Diseases for WHSC1L1 Gene (607083)

UniProtKB/Swiss-Prot

NSD3_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for WHSC1L1 Gene

genes like me logo Genes that share disorders with WHSC1L1: view

No data available for Novoseek inferred disease relationships , Genatlas and External Links for WHSC1L1 Gene

Publications for WHSC1L1 Gene

  1. WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3. (PMID: 11549311) Stec I. … den Dunnen J.T. (Genomics 2001) 3 4 23
  2. The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation? (PMID: 10802047) Stec I. … den Dunnen J.T. (FEBS Lett. 2000) 2 3
  3. NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines. (PMID: 11374904) Angrand P.-O. … Chambon P. (Genomics 2001) 3 4
  4. NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). (PMID: 11986249) Rosati R. … Mecucci C. (Blood 2002) 3 4
  5. The Brd4 extraterminal domain confers transcription activation independent of pTEFb by recruiting multiple proteins, including NSD3. (PMID: 21555454) Rahman S. … Howley P.M. (Mol. Cell. Biol. 2011) 3 4

Products for WHSC1L1 Gene

Sources for WHSC1L1 Gene

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