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LIMA1 (LIM domain and actin binding 1)

Identity

Alias_symbol (synonym)EPLIN
Other aliasSREBP3
HGNC (Hugo) LIMA1
LocusID (NCBI) 51474
Atlas_Id 40474
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 50175780 and ends at 50283570 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C5orf24 (5q31.1) / LIMA1 (12q13.12)LIMA1 (12q13.12) / ANKRD40 (17q21.33)LIMA1 (12q13.12) / DDR1 (6p21.33)
LIMA1 (12q13.12) / SLC35F5 (2q14.1)LIMA1 (12q13.12) / TAOK3 (12q24.23)LIMA1 (12q13.12) / TRAPPC9 (8q24.3)
LIMA1 (12q13.12) / USP22 (17p11.2)TRAPPC9 (8q24.3) / LIMA1 (12q13.12)LIMA1 12q13.12 / TAOK3 12q24.23
LIMA1 12q13.12 / TRAPPC9 8q24.3TRAPPC9 8q24.3 / LIMA1 12q13.12

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)LIMA1   24636
Cards
Entrez_Gene (NCBI)LIMA1  51474  LIM domain and actin binding 1
AliasesEPLIN; SREBP3
GeneCards (Weizmann)LIMA1
Ensembl hg19 (Hinxton)ENSG00000050405 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000050405 [Gene_View]  chr12:50175780-50283570 [Contig_View]  LIMA1 [Vega]
ICGC DataPortalENSG00000050405
TCGA cBioPortalLIMA1
AceView (NCBI)LIMA1
Genatlas (Paris)LIMA1
WikiGenes51474
SOURCE (Princeton)LIMA1
Genetics Home Reference (NIH)LIMA1
Genomic and cartography
GoldenPath hg38 (UCSC)LIMA1  -     chr12:50175780-50283570 -  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LIMA1  -     12q13.12   [Description]    (hg19-Feb_2009)
EnsemblLIMA1 - 12q13.12 [CytoView hg19]  LIMA1 - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBILIMA1 [Mapview hg19]  LIMA1 [Mapview hg38]
OMIM608364   
Gene and transcription
Genbank (Entrez)AA772616 AB209512 AF157325 AF198454 AF198455
RefSeq transcript (Entrez)NM_001113546 NM_001113547 NM_001243775 NM_016357
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LIMA1
Cluster EST : UnigeneHs.525419 [ NCBI ]
CGAP (NCI)Hs.525419
Alternative Splicing GalleryENSG00000050405
Gene ExpressionLIMA1 [ NCBI-GEO ]   LIMA1 [ EBI - ARRAY_EXPRESS ]   LIMA1 [ SEEK ]   LIMA1 [ MEM ]
Gene Expression Viewer (FireBrowse)LIMA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51474
GTEX Portal (Tissue expression)LIMA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHB6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UHB6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UHB6
Splice isoforms : SwissVarQ9UHB6
PhosPhoSitePlusQ9UHB6
Domaine pattern : Prosite (Expaxy)LIM_DOMAIN_1 (PS00478)    LIM_DOMAIN_2 (PS50023)   
Domains : Interpro (EBI)EPLIN    Znf_LIM   
Domain families : Pfam (Sanger)LIM (PF00412)   
Domain families : Pfam (NCBI)pfam00412   
Domain families : Smart (EMBL)LIM (SM00132)  
Conserved Domain (NCBI)LIMA1
DMDM Disease mutations51474
Blocks (Seattle)LIMA1
PDB (SRS)2D8Y   
PDB (PDBSum)2D8Y   
PDB (IMB)2D8Y   
PDB (RSDB)2D8Y   
Structural Biology KnowledgeBase2D8Y   
SCOP (Structural Classification of Proteins)2D8Y   
CATH (Classification of proteins structures)2D8Y   
SuperfamilyQ9UHB6
Human Protein AtlasENSG00000050405
Peptide AtlasQ9UHB6
HPRD09755
IPIIPI00008918   IPI01023024   IPI00220466   IPI00883896   IPI00796705   IPI01021574   IPI01021726   IPI01021867   IPI01022550   IPI01021305   IPI01021421   IPI01022900   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHB6
IntAct (EBI)Q9UHB6
FunCoupENSG00000050405
BioGRIDLIMA1
STRING (EMBL)LIMA1
ZODIACLIMA1
Ontologies - Pathways
QuickGOQ9UHB6
Ontology : AmiGOstress fiber  actin monomer binding  protein binding  cytoplasm  brush border  focal adhesion  zinc ion binding  actin cytoskeleton  negative regulation of actin filament depolymerization  ruffle organization  cleavage furrow  cadherin binding  actin filament binding  actin filament bundle assembly  
Ontology : EGO-EBIstress fiber  actin monomer binding  protein binding  cytoplasm  brush border  focal adhesion  zinc ion binding  actin cytoskeleton  negative regulation of actin filament depolymerization  ruffle organization  cleavage furrow  cadherin binding  actin filament binding  actin filament bundle assembly  
Pathways : BIOCARTASREBP control of lipid synthesis [Genes]   
NDEx NetworkLIMA1
Atlas of Cancer Signalling NetworkLIMA1
Wikipedia pathwaysLIMA1
Orthology - Evolution
OrthoDB51474
GeneTree (enSembl)ENSG00000050405
Phylogenetic Trees/Animal Genes : TreeFamLIMA1
HOVERGENQ9UHB6
HOGENOMQ9UHB6
Homologs : HomoloGeneLIMA1
Homology/Alignments : Family Browser (UCSC)LIMA1
Gene fusions - Rearrangements
Fusion : MitelmanLIMA1/TAOK3 [12q13.12/12q24.23]  
Fusion : MitelmanLIMA1/TRAPPC9 [12q13.12/8q24.3]  [t(8;12)(q24;q13)]  
Fusion : MitelmanLIMA1/USP22 [12q13.12/17p11.2]  [t(12;17)(q13;p11)]  
Fusion : MitelmanTRAPPC9/LIMA1 [8q24.3/12q13.12]  [t(8;12)(q24;q13)]  
Fusion: TCGALIMA1 12q13.12 TAOK3 12q24.23 BLCA
Fusion: TCGALIMA1 12q13.12 TRAPPC9 8q24.3 BRCA
Fusion: TCGATRAPPC9 8q24.3 LIMA1 12q13.12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLIMA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LIMA1
dbVarLIMA1
ClinVarLIMA1
1000_GenomesLIMA1 
Exome Variant ServerLIMA1
ExAC (Exome Aggregation Consortium)LIMA1 (select the gene name)
Genetic variants : HAPMAP51474
Genomic Variants (DGV)LIMA1 [DGVbeta]
DECIPHERLIMA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLIMA1 
Mutations
ICGC Data PortalLIMA1 
TCGA Data PortalLIMA1 
Broad Tumor PortalLIMA1
OASIS PortalLIMA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLIMA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLIMA1
intOGen PortalLIMA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LIMA1
DgiDB (Drug Gene Interaction Database)LIMA1
DoCM (Curated mutations)LIMA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LIMA1 (select a term)
intoGenLIMA1
Cancer3DLIMA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608364   
Orphanet
MedgenLIMA1
Genetic Testing Registry LIMA1
NextProtQ9UHB6 [Medical]
TSGene51474
GENETestsLIMA1
Target ValidationLIMA1
Huge Navigator LIMA1 [HugePedia]
snp3D : Map Gene to Disease51474
BioCentury BCIQLIMA1
ClinGenLIMA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51474
Chemical/Pharm GKB GenePA143485527
Clinical trialLIMA1
Miscellaneous
canSAR (ICR)LIMA1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLIMA1
EVEXLIMA1
GoPubMedLIMA1
iHOPLIMA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:57:39 CEST 2017

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