WHSC1L1 (Wolf-Hirschhorn syndrome candidate 1 like gene 1)

Identity

Other names	NSD3 (Nuclear receptor-binding, su(var), enhancer-of-zeste and trithorax domain-containing protein 3).
HGNC	WHSC1L1
Location	8p11.2
Local_order	WHSC1L1/NSD3 is 30 kb more telomeric than FGFR1 .

DNA/RNA

Description	The gene spans 127 kb on minus strand.
Transcription	2 major transcripts: a short transcript ending after an alternative exon 10b (3995 bp), and a long form from exon 1 to 24 (5428 bp).

Protein

Description	The long transcript encodes a 1437 aminonacids protein (162 kDa) containing from N-term to C-term: a PWWP (proline-tryptophan-tryptophan-proline) domain, 4 PHD (plant-home domain)- type zinc finger motifs, a second PWWP domain, a SET associated cystein rich domain (SAC), a SET domain, a fifth PHD,and a Cys-His rich domain. The short transcript encodes a 645 amino acids protein (73 kDa) containing only the N-term t PWWP domain.
Expression	wide.
Localisation	putative nuclear location.
Function	may have a regulatory role.
Homology	NSD1, WHSC1/NSD2 .

Mutations

Somatic

a hybrid gene involving WHSC1L1/NSD3 was found in a rare leukemia subtype (see below); amplification of a region containing WHSC1L1/NSD3 was found in a subset of breast cancers (but it remains to be determined which gene, within an amplicon, is the critical gene).

Implicated in

Entity	t(8;11)(p11;p15) Acute non lymphocytic leukemia with WHSC1L1/NSD3 - NUP98 .
Prognosis	yet unknown: only 1 case with a proven hybrid gene 5' NUP98 - 3' NSD3; 2 other possible cases, but other genes may also be involved.

To be noted

This region in 8p11.2 seems to be derived from a duplication of 4p16.3 with similar genes WHSC1L1, FGFR1, and TACC1 in 8p11 from pter, and TACC3, FGFR3, and WHSC1 in 4p16 from pter

External links

	Nomenclature
HGNC	WHSC1L1   12767
Entrez_Gene	WHSC1L1  54904  Wolf-Hirschhorn syndrome candidate 1-like 1
	Cards
Atlas	WHSC1L1NSD3ID42810ch8p11
GeneCards	WHSC1L1
Ensembl	WHSC1L1 [Search_View]   ENSG00000147548 [Gene_View]
Genatlas	WHSC1L1
GeneLynx	WHSC1L1
eGenome	WHSC1L1
euGene	54904
	Genomic and cartography
GoldenPath	WHSC1L1  -  8p11.2   chr8:38293092-38358947 -  8p11.2   [Description]    (hg18-Mar_2006)
Ensembl	WHSC1L1 - 8p11.2 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	WHSC1L1
	Gene and transcription
Genbank	AF255649 [ ENTREZ ]
Genbank	AF318339 [ ENTREZ ]
Genbank	AF332468 [ ENTREZ ]
Genbank	AF332469 [ ENTREZ ]
Genbank	AJ295990 [ ENTREZ ]
RefSeq	NM_017778 [ SRS ]    NM_017778 [ ENTREZ ]
RefSeq	NM_023034 [ SRS ]    NM_023034 [ ENTREZ ]
RefSeq	AC_000051 [ SRS ]    AC_000051 [ ENTREZ ]
RefSeq	AC_000140 [ SRS ]    AC_000140 [ ENTREZ ]
RefSeq	NC_000008 [ SRS ]    NC_000008 [ ENTREZ ]
RefSeq	NT_007995 [ SRS ]    NT_007995 [ ENTREZ ]
RefSeq	NW_001839128 [ SRS ]    NW_001839128 [ ENTREZ ]
RefSeq	NW_923907 [ SRS ]    NW_923907 [ ENTREZ ]
AceView	WHSC1L1 AceView - NCBI
Unigene	Hs.700599 [ SRS ]    Hs.700599 [ NCBI ]     HS700599 [ spliceNest ]
Fast-db	3902 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q8WYV9 [ SRS]    Q8WYV9 [ EXPASY ]     Q8WYV9 [ INTERPRO ]     Q8WYV9 [ UNIPROT ]
CluSTr	Q8WYV9
Blocks	Q8WYV9
HPRD	06155
	Protein Interaction databases
DIP	Q8WYV9
IntAct	Q8WYV9
	Polymorphism : SNP, mutations, diseases
OMIM	601626;607083    [ map ]
GENECLINICS	601626;607083
SNP	WHSC1L1 [dbSNP-NCBI]
SNP	NM_017778 [SNP-NCI]
SNP	NM_023034 [SNP-NCI]
SNP	WHSC1L1 [GeneSNPs - Utah]  WHSC1L1] [HGBASE - SRS]
HAPMAP	WHSC1L1 [HAPMAP]
COSMIC	WHSC1L1 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	WHSC1L1 [Translocation breakpoints In Cancer]
HGMD	WHSC1L1
	General knowledge
Family Browser	WHSC1L1 [UCSC Family Browser]
SOURCE	NM_017778
SOURCE	NM_023034
SMD	Hs.700599
SAGE	Hs.700599
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	methyltransferase activity [Amigo]  methyltransferase activity
GO	zinc ion binding [Amigo]  zinc ion binding
GO	cell growth [Amigo]  cell growth
GO	chromatin modification [Amigo]  chromatin modification
GO	histone methylation [Amigo]  histone methylation
GO	transferase activity [Amigo]  transferase activity
GO	histone-lysine N-methyltransferase activity [Amigo]  histone-lysine N-methyltransferase activity
GO	cell differentiation [Amigo]  cell differentiation
GO	metal ion binding [Amigo]  metal ion binding
PubGene	WHSC1L1
TreeFam	WHSC1L1
CTD	54904 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	WHSC1L1 Related clones (RZPD - Berlin)
	PubMed
PubMed	9 Pubmed reference(s) in LocusLink

Bibliography

NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines.

Angrand PO, Apiou F, Stewart AF, Dutrillaux B, Losson R, Chambon P

Genomics. 2001 ; 74 (1) : 79-88.

PMID 11374904

WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3.

Stec I, van Ommen GJ, den Dunnen JT

Genomics. 2001 ; 76 (1-3) : 5-8.

PMID 11549311

NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15).

Rosati R, La Starza R, Veronese A, Aventin A, Schwienbacher C, Vallespi T, Negrini M, Martelli MF, Mecucci C

Blood. 2002 ; 99 (10) : 3857-3860.

PMID 11986249

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

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Contributor(s)

Written	03-2005	Jean Loup Huret

Citation

This paper should be referenced as such :

Huret JL . WHSC1L1 (Wolf-Hirschhorn syndrome candidate 1 like gene 1). Atlas Genet Cytogenet Oncol Haematol. March 2005 . URL : http://AtlasGeneticsOncology.org/Genes/WHSC1L1NSD3ID42810ch8p11.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:18:27 2008