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ALMS1 (ALMS1, centrosome and basal body associated protein)

Identity

Alias_namesAlstrom syndrome 1
Alstrom syndrome protein 1
Alias_symbol (synonym)KIAA0328
Other aliasALSS
HGNC (Hugo) ALMS1
LocusID (NCBI) 7840
Atlas_Id 55396
Location 2p13.1  [Link to chromosome band 2p13]
Location_base_pair Starts at 73612886 and ends at 73837046 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MBP (18q23) / ALMS1 (2p13.1)RORA (15q22.2) / ALMS1 (2p13.1)RORA 15q22.2 / ALMS1 2p13.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ALMS1   428
LRG (Locus Reference Genomic)LRG_741
Cards
Entrez_Gene (NCBI)ALMS1  7840  ALMS1, centrosome and basal body associated protein
AliasesALSS
GeneCards (Weizmann)ALMS1
Ensembl hg19 (Hinxton)ENSG00000116127 [Gene_View]  chr2:73612886-73837046 [Contig_View]  ALMS1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000116127 [Gene_View]  chr2:73612886-73837046 [Contig_View]  ALMS1 [Vega]
ICGC DataPortalENSG00000116127
TCGA cBioPortalALMS1
AceView (NCBI)ALMS1
Genatlas (Paris)ALMS1
WikiGenes7840
SOURCE (Princeton)ALMS1
Genetics Home Reference (NIH)ALMS1
Genomic and cartography
GoldenPath hg19 (UCSC)ALMS1  -     chr2:73612886-73837046 +  2p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ALMS1  -     2p13.1   [Description]    (hg38-Dec_2013)
EnsemblALMS1 - 2p13.1 [CytoView hg19]  ALMS1 - 2p13.1 [CytoView hg38]
Mapping of homologs : NCBIALMS1 [Mapview hg19]  ALMS1 [Mapview hg38]
OMIM203800   606844   
Gene and transcription
Genbank (Entrez)AB002326 AJ417593 AL832273 AL833495 AX751581
RefSeq transcript (Entrez)NM_015120
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_011690 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)ALMS1
Cluster EST : UnigeneHs.184720 [ NCBI ]
CGAP (NCI)Hs.184720
Alternative Splicing GalleryENSG00000116127
Gene ExpressionALMS1 [ NCBI-GEO ]   ALMS1 [ EBI - ARRAY_EXPRESS ]   ALMS1 [ SEEK ]   ALMS1 [ MEM ]
Gene Expression Viewer (FireBrowse)ALMS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7840
GTEX Portal (Tissue expression)ALMS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TCU4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TCU4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TCU4
Splice isoforms : SwissVarQ8TCU4
PhosPhoSitePlusQ8TCU4
Domains : Interpro (EBI)ALMS1    ALMS_motif   
Domain families : Pfam (Sanger)ALMS_motif (PF15309)   
Domain families : Pfam (NCBI)pfam15309   
Conserved Domain (NCBI)ALMS1
DMDM Disease mutations7840
Blocks (Seattle)ALMS1
SuperfamilyQ8TCU4
Human Protein AtlasENSG00000116127
Peptide AtlasQ8TCU4
HPRD06023
IPIIPI00740123   IPI00740909   IPI00854639   IPI00178743   IPI00917930   
Protein Interaction databases
DIP (DOE-UCLA)Q8TCU4
IntAct (EBI)Q8TCU4
FunCoupENSG00000116127
BioGRIDALMS1
STRING (EMBL)ALMS1
ZODIACALMS1
Ontologies - Pathways
QuickGOQ8TCU4
Ontology : AmiGOG2/M transition of mitotic cell cycle  spindle pole  molecular_function  protein binding  nucleus  cytoplasm  centrosome  centriole  cytosol  cilium  endosomal transport  regulation of stress fiber assembly  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  spindle pole  molecular_function  protein binding  nucleus  cytoplasm  centrosome  centriole  cytosol  cilium  endosomal transport  regulation of stress fiber assembly  
NDEx NetworkALMS1
Atlas of Cancer Signalling NetworkALMS1
Wikipedia pathwaysALMS1
Orthology - Evolution
OrthoDB7840
GeneTree (enSembl)ENSG00000116127
Phylogenetic Trees/Animal Genes : TreeFamALMS1
HOVERGENQ8TCU4
HOGENOMQ8TCU4
Homologs : HomoloGeneALMS1
Homology/Alignments : Family Browser (UCSC)ALMS1
Gene fusions - Rearrangements
Fusion : MitelmanRORA/ALMS1 [15q22.2/2p13.1]  [t(2;15)(p13;q22)]  
Fusion: TCGARORA 15q22.2 ALMS1 2p13.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALMS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALMS1
dbVarALMS1
ClinVarALMS1
1000_GenomesALMS1 
Exome Variant ServerALMS1
ExAC (Exome Aggregation Consortium)ALMS1 (select the gene name)
Genetic variants : HAPMAP7840
Genomic Variants (DGV)ALMS1 [DGVbeta]
DECIPHER (Syndromes)2:73612886-73837046  ENSG00000116127
CONAN: Copy Number AnalysisALMS1 
Mutations
ICGC Data PortalALMS1 
TCGA Data PortalALMS1 
Broad Tumor PortalALMS1
OASIS PortalALMS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALMS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALMS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch ALMS1
DgiDB (Drug Gene Interaction Database)ALMS1
DoCM (Curated mutations)ALMS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALMS1 (select a term)
intoGenALMS1
Cancer3DALMS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM203800    606844   
Orphanet1328   
MedgenALMS1
Genetic Testing Registry ALMS1
NextProtQ8TCU4 [Medical]
TSGene7840
GENETestsALMS1
Huge Navigator ALMS1 [HugePedia]
snp3D : Map Gene to Disease7840
BioCentury BCIQALMS1
ClinGenALMS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7840
Chemical/Pharm GKB GenePA24721
Clinical trialALMS1
Miscellaneous
canSAR (ICR)ALMS1 (select the gene name)
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALMS1
EVEXALMS1
GoPubMedALMS1
iHOPALMS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:55:36 CET 2017

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