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STAB1 (stabilin 1)

Identity

Alias_symbol (synonym)KIAA0246
STAB-1
FEEL-1
CLEVER-1
FELE-1
FEX1
SCARH2
Other alias
HGNC (Hugo) STAB1
LocusID (NCBI) 23166
Atlas_Id 52235
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 52495340 and ends at 52524495 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GCN1 (12q24.23) / STAB1 (3p21.1)LTBP4 (19q13.2) / STAB1 (3p21.1)NT5DC2 (3p21.1) / STAB1 (3p21.1)

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)STAB1   18628
Cards
Entrez_Gene (NCBI)STAB1  23166  stabilin 1
AliasesCLEVER-1; FEEL-1; FELE-1; FEX1; 
SCARH2; STAB-1
GeneCards (Weizmann)STAB1
Ensembl hg19 (Hinxton)ENSG00000010327 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000010327 [Gene_View]  chr3:52495340-52524495 [Contig_View]  STAB1 [Vega]
ICGC DataPortalENSG00000010327
TCGA cBioPortalSTAB1
AceView (NCBI)STAB1
Genatlas (Paris)STAB1
WikiGenes23166
SOURCE (Princeton)STAB1
Genetics Home Reference (NIH)STAB1
Genomic and cartography
GoldenPath hg38 (UCSC)STAB1  -     chr3:52495340-52524495 +  3p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)STAB1  -     3p21.1   [Description]    (hg19-Feb_2009)
EnsemblSTAB1 - 3p21.1 [CytoView hg19]  STAB1 - 3p21.1 [CytoView hg38]
Mapping of homologs : NCBISTAB1 [Mapview hg19]  STAB1 [Mapview hg38]
OMIM608560   
Gene and transcription
Genbank (Entrez)AB052956 AB052957 AJ275213 AK091600 AK093774
RefSeq transcript (Entrez)NM_015136
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)STAB1
Cluster EST : UnigeneHs.301989 [ NCBI ]
CGAP (NCI)Hs.301989
Alternative Splicing GalleryENSG00000010327
Gene ExpressionSTAB1 [ NCBI-GEO ]   STAB1 [ EBI - ARRAY_EXPRESS ]   STAB1 [ SEEK ]   STAB1 [ MEM ]
Gene Expression Viewer (FireBrowse)STAB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23166
GTEX Portal (Tissue expression)STAB1
Human Protein AtlasENSG00000010327-STAB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NY15   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NY15  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NY15
Splice isoforms : SwissVarQ9NY15
PhosPhoSitePlusQ9NY15
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_LAM_1 (PS01248)    FAS1 (PS50213)    LINK_1 (PS01241)    LINK_2 (PS50963)   
Domains : Interpro (EBI)C-type_lectin-like/link    CTDL_fold    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF_dom    FAS1_domain    GFP-like    Laminin_EGF    Link_dom   
Domain families : Pfam (Sanger)EGF_3 (PF12947)    Fasciclin (PF02469)    Xlink (PF00193)   
Domain families : Pfam (NCBI)pfam12947    pfam02469    pfam00193   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  EGF_Lam (SM00180)  FAS1 (SM00554)  LINK (SM00445)  
Conserved Domain (NCBI)STAB1
DMDM Disease mutations23166
Blocks (Seattle)STAB1
SuperfamilyQ9NY15
Human Protein Atlas [tissue]ENSG00000010327-STAB1 [tissue]
Peptide AtlasQ9NY15
HPRD09778
IPIIPI00419565   IPI00383337   IPI00945064   
Protein Interaction databases
DIP (DOE-UCLA)Q9NY15
IntAct (EBI)Q9NY15
FunCoupENSG00000010327
BioGRIDSTAB1
STRING (EMBL)STAB1
ZODIACSTAB1
Ontologies - Pathways
QuickGOQ9NY15
Ontology : AmiGOlow-density lipoprotein receptor activity  scavenger receptor activity  calcium ion binding  protein binding  hyaluronic acid binding  plasma membrane  integral component of plasma membrane  receptor-mediated endocytosis  inflammatory response  cell adhesion  cell-cell signaling  protein disulfide oxidoreductase activity  negative regulation of angiogenesis  low-density lipoprotein particle binding  endocytic vesicle membrane  defense response to bacterium  oxidation-reduction process  
Ontology : EGO-EBIlow-density lipoprotein receptor activity  scavenger receptor activity  calcium ion binding  protein binding  hyaluronic acid binding  plasma membrane  integral component of plasma membrane  receptor-mediated endocytosis  inflammatory response  cell adhesion  cell-cell signaling  protein disulfide oxidoreductase activity  negative regulation of angiogenesis  low-density lipoprotein particle binding  endocytic vesicle membrane  defense response to bacterium  oxidation-reduction process  
NDEx NetworkSTAB1
Atlas of Cancer Signalling NetworkSTAB1
Wikipedia pathwaysSTAB1
Orthology - Evolution
OrthoDB23166
GeneTree (enSembl)ENSG00000010327
Phylogenetic Trees/Animal Genes : TreeFamSTAB1
HOVERGENQ9NY15
HOGENOMQ9NY15
Homologs : HomoloGeneSTAB1
Homology/Alignments : Family Browser (UCSC)STAB1
Gene fusions - Rearrangements
Tumor Fusion PortalSTAB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSTAB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)STAB1
dbVarSTAB1
ClinVarSTAB1
1000_GenomesSTAB1 
Exome Variant ServerSTAB1
ExAC (Exome Aggregation Consortium)ENSG00000010327
GNOMAD BrowserENSG00000010327
Genetic variants : HAPMAP23166
Genomic Variants (DGV)STAB1 [DGVbeta]
DECIPHERSTAB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSTAB1 
Mutations
ICGC Data PortalSTAB1 
TCGA Data PortalSTAB1 
Broad Tumor PortalSTAB1
OASIS PortalSTAB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSTAB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSTAB1
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
BioMutasearch STAB1
DgiDB (Drug Gene Interaction Database)STAB1
DoCM (Curated mutations)STAB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)STAB1 (select a term)
intoGenSTAB1
Cancer3DSTAB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608560   
Orphanet
DisGeNETSTAB1
MedgenSTAB1
Genetic Testing Registry STAB1
NextProtQ9NY15 [Medical]
TSGene23166
GENETestsSTAB1
Target ValidationSTAB1
Huge Navigator STAB1 [HugePedia]
snp3D : Map Gene to Disease23166
BioCentury BCIQSTAB1
ClinGenSTAB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23166
Chemical/Pharm GKB GenePA38610
Clinical trialSTAB1
Miscellaneous
canSAR (ICR)STAB1 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSTAB1
EVEXSTAB1
GoPubMedSTAB1
iHOPSTAB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:36:52 CET 2017

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