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Aliases for WHSC1L1 Gene

Aliases for WHSC1L1 Gene

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

External Ids for WHSC1L1 Gene

Previous GeneCards Identifiers for WHSC1L1 Gene

  • GC08M037671
  • GC08M038256
  • GC08M037873
  • GC08M038150
  • GC08M038151
  • GC08M038251
  • 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. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]

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 leukemia, acute myeloid. Among its related pathways are Chromatin organization and Lysine degradation. GO annotations related to this gene include histone-lysine N-methyltransferase activity and histone methyltransferase activity (H3-K27 specific). 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

Chromosome:
8
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 Lys 1065
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for WHSC1L1 Gene

Gene Families for WHSC1L1 Gene

Suggested Antigen Peptide Sequences for WHSC1L1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZ95

UniProtKB/Swiss-Prot:

NSD3_HUMAN :
  • Contains 1 AWS domain.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
  • Contains 4 PHD-type zinc fingers.
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

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
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 Targets 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

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 & Interactions for WHSC1L1 Gene

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:0016571 histone methylation IDA 16682010
GO:0045892 negative regulation of transcription, DNA-templated IEA --
GO:0051568 histone H3-K4 methylation IEA --
genes like me logo Genes that share ontologies with WHSC1L1: view

No data available for SIGNOR curated interactions for WHSC1L1 Gene

Drugs & Compounds for WHSC1L1 Gene

(3) Drugs for WHSC1L1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Lysine Approved Nutra Full agonist, Agonist 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 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

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

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines 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 expression patterns with WHSC1L1: view

Protein tissue co-expression partners for WHSC1L1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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

(5) 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

Variation tolerance for WHSC1L1 Gene

Residual Variation Intolerance Score: 4.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.40; 54.29% of all genes are more intolerant (likely to be disease-causing)

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

(3) MalaCards diseases for WHSC1L1 Gene - From: OMIM, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
wolf-hirschhorn syndrome
  • pitt syndrome
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
sotos syndrome 1
  • sotos syndrome
- elite association

UniProtKB/Swiss-Prot

NSD3_HUMAN
  • Note=A chromosomal aberration involving WHSC1L1 is found in childhood acute myeloid leukemia. Translocation t(8;11)(p11.2;p15) with NUP98.
  • Note=Defects in WHSC1L1 may be involved in non small cell lung carcinomas (NSCLC). Amplified or overexpressed in NSCLC.

Relevant External Links for WHSC1L1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WHSC1L1
genes like me logo Genes that share disorders with WHSC1L1: view

No data available for Genatlas for WHSC1L1 Gene

Publications for WHSC1L1 Gene

  1. 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. (PMID: 23269674) He C. … Shi Y. (J. Biol. Chem. 2013) 2 67
  2. 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) 23 67
  3. 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 67
  4. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R. … Aloy P. (J. Mol. Biol. 2015) 67
  5. Uncovering global SUMOylation signaling networks in a site-specific manner. (PMID: 25218447) Hendriks I.A. … Vertegaal A.C. (Nat. Struct. Mol. Biol. 2014) 67

Products for WHSC1L1 Gene

Sources for WHSC1L1 Gene

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