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GAS7 (growth arrest-specific 7)

Identity

Other namesKIAA0394
HGNC (Hugo) GAS7
Location 17p13
Location_base_pair Starts at 9754651 and ends at 9870348 bp from pter ( according to hg18-Mar_2006)  [Mapping]

DNA/RNA

Description genomic sequence 167 kb; 14 exons
Transcription 8 kb mRNA; various splicings in the mouse

Protein

Description 412 aa
Expression in quiescent/terminally differenciated cells, like other GAS (herien the name Growth Arrest-Specific); selective expression in growth-arrested fibroblasts; GAS7 is predominantly expressed in the brain (in particular, in the mouse, in Purkinje cells of the cerebellum, at lower level in other tissues such as the heart and the testes); gas7 expression is associated with neurite formation (and overproduction of gas7 in neuroblastoma cells promotes neurite-like outgrowth) which suggests that GAS7 may have a role in promoting, and possibly maintaining, maturation and morphological differentiation of cerebellar neurons

Implicated in

Entity treatment-related acute non lymphocytic leukemia with t(11;17)(q23;p13)
Disease only one case: a 13-year-old boy, with a M4 ANLL and a karyotype with an apparent del(11)(q23) (finally proved to be in reality a cryptic t(11;17)(q23;p13)); four months later the patient died; other cases of t(11;17)(q23;p13) have been described but the involvement of GAS7 has not been proved
Hybrid/Mutated Gene 5' MLL-3' GAS7; breakpoint in MLL intron 8, in MLL bcr; GAS7 breakpoint upstream of exon 1; fusion of mLL exon 7 or exon 8 to GAS7 exon 2
  

External links

Nomenclature
HGNC (Hugo)GAS7   4169
Entrez_Gene (NCBI)GAS7  8522  growth arrest-specific 7
Cards
AtlasGAS7ID257
GeneCards (Weizmann)GAS7
Ensembl (Hinxton)ENSG00000007237 [Gene_View]  GAS7 [Vega]
AceView (NCBI)GAS7
Genatlas (Paris)GAS7
euGene (Indiana)8522
SOURCE (Stanford)NM_001130831 NM_003644 NM_201432 NM_201433
Gene Expression (Array Express) ENSG00000007237
Genomic and cartography
GoldenPath (UCSC)GAS7  -  17p13   chr17:9754651-9870348 -  17p13.1   [Description]    (hg18-Mar_2006)
EnsemblGAS7 - 17p13.1 [CytoView]
Mapping of homologs : NCBIGAS7 [Mapview]
OMIM603127   
Gene and transcription
Gene : Genbank (Entrez)AB007854 AB209030 AF231997 AJ224876 AK057761
Reference sequence (RefSeq transcript) :SRSNM_001130831 NM_003644 NM_201432 NM_201433
Reference transcript : EntrezNM_001130831 NM_003644 NM_201432 NM_201433
RefSeq genomic : SRSAC_000060 AC_000149 NC_000017 NT_010718 NW_001838403 NW_926584
RefSeq genomic : EntrezAC_000060 AC_000149 NC_000017 NT_010718 NW_001838403 NW_926584
Consensus coding sequences : CCDS NCBIGAS7
Cluster EST : UnigeneHs.462214 [ SRS ] Hs.462214 [ NCBI ]
Alternative Splicing : Fast-db (Paris)3948
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtO60861 (SRS) O60861 (Expasy) O60861 (Uniprot)
With graphics : InterProO60861
Splice isoforms : VarSplice FASTAO60861(VarSplice FASTA)
Domaine pattern : Prosite (SRS)FCH (PS50133)    SH3 (PS50002)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domain pattern : Prosite (Expaxy)FCH (PS50133)    SH3 (PS50002)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (SRS)FCH    SH3_domain    WW_Rsp5_WWP   
Domains : Interpro (EBI)FCH    SH3_domain    WW_Rsp5_WWP   
Related proteins : CluSTrO60861
Domain families : Pfam SRSFCH (PF00611)    SH3_1 (PF00018)    WW (PF00397)   
Domain families : Pfam SangerFCH (PF00611)    SH3_1 (PF00018)    WW (PF00397)   
Domain families : Pfam NCBIpfam00611    pfam00018    pfam00397   
Domain families : Smart EMBLFCH (SM00055)  SH3 (SM00326)  WW (SM00456)  
Blocks (Seattle)O60861
Crystal structure of protein : PDB SRS2YSH   
Crystal structure of protein : PDBSum2YSH   
Crystal structure of protein : IMB2YSH   
Crystal structure of protein : PDB RSDB2YSH   
HPRD16011
Protein Interaction databases
DIP (DOE-UCLA)O60861
IntAct (EBI)O60861
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIGAS7
SNP : GeneSNP UtahGAS7
SNP : HGBaseGAS7
Genetic variants : HAPMAPGAS7
Cancer Gene: CensusGAS7 
Somatic Mutations in Cancer : COSMICGAS7 
Translocation Breakpoints in Cancer : TICdbGAS7 
Mutations and Diseases : HGMDGAS7
Hereditary diseases : OMIM603127   
Hereditary diseases : GENETests603127   
Diseases : Genetic AssociationGAS7
General knowledge
Homologs : HomoloGeneGAS7
Homology/Alignments : Family Browser UCSCGAS7
Phylogenetic Trees/Animal Genes : TreeFamGAS7
Chemical/Protein Interactions : CTD8522
Keywords Ontology : AmiGOruffle  transcription factor activity  protein binding  cytoplasm  actin filament  cell cycle arrest  multicellular organismal development  nervous system development  regulation of cell shape  actin filament polymerization  neuron differentiation  neuron projection morphogenesis  actin filament binding  actin filament bundle assembly  
Keywords Ontology : EGO-EBIruffle  transcription factor activity  protein binding  cytoplasm  actin filament  cell cycle arrest  multicellular organismal development  nervous system development  regulation of cell shape  actin filament polymerization  neuron differentiation  neuron projection morphogenesis  actin filament binding  actin filament bundle assembly  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesGAS7 Related clones (RZPD - Berlin)
Literature
PubMed14 Pubmed reference(s) in Entrez
PubGeneGAS7

Bibliography

gas7: A gene expressed preferentially in growth-arrested fibroblasts and terminally differentiated Purkinje neurons affects neurite formation.
Ju YT, Chang AC, She BR, Tsaur ML, Hwang HM, Chao CC, Cohen SN, Lin-Chao S
Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (19) : 11423-11428.
PMID 9736752
 
Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors.
Megonigal MD, Cheung NK, Rappaport EF, Nowell PC, Wilson RB, Jones DH, Addya K, Leonard DG, Kushner BH, Williams TM, Lange BJ, Felix CA
Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (6) : 2814-2819.
PMID 10706619
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written06-2000Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . GAS7 (growth arrest-specific 7). Atlas Genet Cytogenet Oncol Haematol. June 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/GAS7ID257.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 27 10:53:22 CET 2010

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