MLN51

Identity

HGNC	CASC3
Location	17q11-17q21.3
Local_order	from centromere to telomere are: TRAF4 (alias MLN62/CART1), Lasp1 (alias MLN50), MLN64, c-erbB2, and MLN51

DNA/RNA

Description	composed of 14 exons, gene size: approximately 16 kb
Transcription	cDNA:4.1kb; coding sequence: 2111 bp

Protein

Description	703 amino acids; theorical molecular weigth 76kDa, observed molecular weigth 115kDa; contains a functional coiled-coil domain and two functional NLS at its N-terminal part; possesses a proline-rich region with four potential SH3 domain binding sites at its C-terminal part
Expression	ubiquitous
Localisation	cytoplasmic with a perinuclear accumulation
Function	unknown
Homology	counterparts can be deduced from mouse, zebrafish, worm and drosophila genomes

Implicated in

Entity	breast carcinomas
Note	overexpression is found in 12 to 30% of primary breast carcinomas

External links

	Nomenclature
HGNC	CASC3   17040
Entrez_Gene	CASC3  22794  cancer susceptibility candidate 3
	Cards
Atlas	MLN51ID241
GeneCards	CASC3
Ensembl	CASC3 [Search_View]   ENSG00000108349 [Gene_View]
Genatlas	CASC3
GeneLynx	CASC3
eGenome	CASC3
euGene	22794
	Genomic and cartography
GoldenPath	CASC3  -     chr17:35550033-35581957 +  17q11-q21.3   [Description]    (hg18-Mar_2006)
Ensembl	CASC3 - 17q11-q21.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	CASC3
	Gene and transcription
Genbank	AK096126 [ ENTREZ ]
Genbank	AK292425 [ ENTREZ ]
Genbank	AK310635 [ ENTREZ ]
Genbank	BC030008 [ ENTREZ ]
Genbank	BC044656 [ ENTREZ ]
RefSeq	NM_007359 [ SRS ]    NM_007359 [ ENTREZ ]
RefSeq	AC_000060 [ SRS ]    AC_000060 [ ENTREZ ]
RefSeq	AC_000149 [ SRS ]    AC_000149 [ ENTREZ ]
RefSeq	NC_000017 [ SRS ]    NC_000017 [ ENTREZ ]
RefSeq	NT_010755 [ SRS ]    NT_010755 [ ENTREZ ]
RefSeq	NW_001838435 [ SRS ]    NW_001838435 [ ENTREZ ]
RefSeq	NW_926828 [ SRS ]    NW_926828 [ ENTREZ ]
AceView	CASC3 AceView - NCBI
Unigene	Hs.705465 [ SRS ]    Hs.705465 [ NCBI ]     HS705465 [ spliceNest ]
Fast-db	9786 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O15234 [ SRS]    O15234 [ EXPASY ]     O15234 [ INTERPRO ]     O15234 [ UNIPROT ]
CluSTr	O15234
Blocks	O15234
PDB	2HYI [ SRS ]    2HYI [ PdbSum ],   2HYI [ IMB ]   2HYI [ RSDB ]
PDB	2J0Q [ SRS ]    2J0Q [ PdbSum ],   2J0Q [ IMB ]   2J0Q [ RSDB ]
PDB	2J0S [ SRS ]    2J0S [ PdbSum ],   2J0S [ IMB ]   2J0S [ RSDB ]
PDB	2J0U [ SRS ]    2J0U [ PdbSum ],   2J0U [ IMB ]   2J0U [ RSDB ]
HPRD	16225
	Protein Interaction databases
DIP	O15234
IntAct	O15234
	Polymorphism : SNP, mutations, diseases
OMIM	606504    [ map ]
GENECLINICS	606504
SNP	CASC3 [dbSNP-NCBI]
SNP	NM_007359 [SNP-NCI]
SNP	CASC3 [GeneSNPs - Utah]  CASC3] [HGBASE - SRS]
HAPMAP	CASC3 [HAPMAP]
HGMD	CASC3
	General knowledge
Family Browser	CASC3 [UCSC Family Browser]
SOURCE	NM_007359
SMD	Hs.705465
SAGE	Hs.705465
GO	molecular_function [Amigo]  molecular_function
GO	cellular_component [Amigo]  cellular_component
GO	nucleus [Amigo]  nucleus
GO	cytoplasm [Amigo]  cytoplasm
GO	transport [Amigo]  transport
GO	biological_process [Amigo]  biological_process
GO	intracellular mRNA localization [Amigo]  intracellular mRNA localization
GO	ribonucleoprotein complex [Amigo]  ribonucleoprotein complex
GO	identical protein binding [Amigo]  identical protein binding
GO	mRNA transport [Amigo]  mRNA transport
PubGene	CASC3
TreeFam	CASC3
CTD	22794 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	CASC3 Related clones (RZPD - Berlin)
	PubMed
PubMed	17 Pubmed reference(s) in LocusLink

Bibliography

Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17.

Tomasetto C, Rˆ©gnier C, Moog-Lutz C, Mattei MG, Chenard MP, Lidereau R, Basset P, Rio MC

Genomics. 1995 ; 28 (3) : 367-376.

PMID 7490069

Two distinct amplified regions at 17q11-q21 involved in human primary breast cancer.

Biˆ®che I, Tomasetto C, Rˆ©gnier CH, Moog-Lutz C, Rio MC, Lidereau R

Cancer research. 1996 ; 56 (17) : 3886-3890.

PMID 8752152

Metastatic Lymph Node 51, a novel nucleo-cytoplasmic protein overexpressed in breast cancer.

Degot S, Rˆ©gnier CH, Wendling C, Chenard MP, Rio MC, Tomasetto C

Oncogene. 2002 ; 21 (28) : 4422-4434.

PMID 12080473

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

Search in all EBI   NCBI

Contributor(s)

Written	03-2002	Sébastien Degot
		I.G.B.M.C, 1, rue Laurent FRIES, BP 163 67404 ILLKIRH, France

Citation

This paper should be referenced as such :

Degot S . MLN51. Atlas Genet Cytogenet Oncol Haematol. March 2002 . URL : http://AtlasGeneticsOncology.org/Genes/MLN51ID241.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:15:25 2008