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ALEX1 (arm protein lost in epithelial cancers, X chromosome, 1)

Identity

HGNC (Hugo) ARMCX1
Location Xq22.1
Location_base_pair Starts at 100692170 and ends at 100696331 bp from pter ( according to hg18-Mar_2006)  [Mapping]

DNA/RNA

Description spans 4.2 kb; 4 exons; exon 4 is the only coding exon
Transcription cDNA: 2141 bp

Protein

Description 453 amino acids, 49 kDa.; contains a transmembrane domain in N term, an ATP/GTP binding site, 2 arm (armadillo) repeats, and potential phosphorylation sites
Expression wide in normal tissues, except leucocytes; lost or significantly reduced in carcinomas
Homology with ALEX2 and ALEX3

External links

Nomenclature
HGNC (Hugo)ARMCX1   18073
Entrez_Gene (NCBI)ARMCX1  51309  armadillo repeat containing, X-linked 1
Cards
AtlasALEX1Xq22ID477
GeneCards (Weizmann)ARMCX1
Ensembl (Hinxton)ENSG00000126947 [Gene_View]  ARMCX1 [Vega]
AceView (NCBI)ARMCX1
Genatlas (Paris)ARMCX1
euGene (Indiana)51309
SOURCE (Stanford)NM_016608
Genomic and cartography
GoldenPath (UCSC)ARMCX1  -  Xq22.1   chrX:100692170-100696331 +  Xq21.33-q22.2   [Description]    (hg18-Mar_2006)
EnsemblARMCX1 - Xq21.33-q22.2 [CytoView]
Mapping of homologs : NCBIARMCX1 [Mapview]
OMIM300362   
Gene and transcription
Gene : Genbank (Entrez)AB039670 AF248963 AK074785 AK222578 BC002691
Reference sequence (RefSeq transcript) :SRSNM_016608
Reference transcript : EntrezNM_016608
RefSeq genomic : SRSAC_000066 AC_000155 NC_000023 NT_011651 NW_001842387 NW_927715
RefSeq genomic : EntrezAC_000066 AC_000155 NC_000023 NT_011651 NW_001842387 NW_927715
Consensus coding sequences : CCDS NCBIARMCX1
Cluster EST : UnigeneHs.9728 [ SRS ] Hs.9728 [ NCBI ]
Alternative Splicing : Fast-db (Paris)12446
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ9P291 (SRS) Q9P291 (Expasy) Q9P291 (Uniprot)
With graphics : InterProQ9P291
Splice isoforms : VarSplice FASTAQ9P291(VarSplice FASTA)
Domaine pattern : Prosite (SRS)ARM_REPEAT (PS50176)   
Domain pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (SRS)ARM-like    Armadillo    DUF634   
Domains : Interpro (EBI)ARM-like    Armadillo    DUF634   
Related proteins : CluSTrQ9P291
Domain families : Pfam SRSDUF634 (PF04826)   
Domain families : Pfam SangerDUF634 (PF04826)   
Domain families : Pfam NCBIpfam04826   
Blocks (Seattle)Q9P291
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD02292
Protein Interaction databases
DIP (DOE-UCLA)Q9P291
IntAct (EBI)Q9P291
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIARMCX1
SNP : GeneSNP UtahARMCX1
SNP : HGBaseARMCX1
Genetic variants : HAPMAPARMCX1
Somatic Mutations in Cancer : COSMICARMCX1 
Mutations and Diseases : HGMDARMCX1
Hereditary diseases : OMIM300362   
Hereditary diseases : GENETests300362   
Diseases : Genetic AssociationARMCX1
General knowledge
Homologs : HomoloGeneARMCX1
Homology/Alignments : Family Browser UCSCARMCX1
Phylogenetic Trees/Animal Genes : TreeFamARMCX1
Chemical/Protein Interactions : CTD51309
Keywords Ontology : AmiGObinding  membrane  integral to membrane  
Keywords Ontology : EGO-EBIbinding  membrane  integral to membrane  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesARMCX1 Related clones (RZPD - Berlin)
Literature
PubMed8 Pubmed reference(s) in Entrez
PubGeneARMCX1

Bibliography

ALEX1, a novel human armadillo repeat protein that is expressed differentially in normal tissues and carcinomas.
Kurochkin IV, Yonemitsu N, Funahashi SI, Nomura H
Biochemical and biophysical research communications. 2001 ; 280 (1) : 340-347.
PMID 11162520
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written07-2003Jean-Loup Huret, Sylvie Senon

Citation

This paper should be referenced as such :
Huret JL, Senon S . ALEX1 (arm protein lost in epithelial cancers, X chromosome, 1). Atlas Genet Cytogenet Oncol Haematol. July 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/ALEX1Xq22ID477.html

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indexed on : Sat Jun 27 16:40:53 CEST 2009
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