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ILVBL (ilvB acetolactate synthase like)

Identity

Alias_namesilvB (bacterial acetolactate synthase)-like
Alias_symbol (synonym)209L8
AHAS
ILV2H
MGC1269
FLJ39061
MGC19535
HACL1L
Other alias
HGNC (Hugo) ILVBL
LocusID (NCBI) 10994
Atlas_Id 64606
Location 19p13.12  [Link to chromosome band 19p13]
Location_base_pair Starts at 15114974 and ends at 15125799 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)
ARHGEF3 (3p14.3) / ILVBL (19p13.12)ILVBL (19p13.12) / ILVBL (19p13.12)ILVBL (19p13.12) / SYDE1 (19p13.12)

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)ILVBL   6041
Cards
Entrez_Gene (NCBI)ILVBL  10994  ilvB acetolactate synthase like
Aliases209L8; AHAS; HACL1L; ILV2H
GeneCards (Weizmann)ILVBL
Ensembl hg19 (Hinxton)ENSG00000105135 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105135 [Gene_View]  chr19:15114974-15125799 [Contig_View]  ILVBL [Vega]
ICGC DataPortalENSG00000105135
TCGA cBioPortalILVBL
AceView (NCBI)ILVBL
Genatlas (Paris)ILVBL
WikiGenes10994
SOURCE (Princeton)ILVBL
Genetics Home Reference (NIH)ILVBL
Genomic and cartography
GoldenPath hg38 (UCSC)ILVBL  -     chr19:15114974-15125799 -  19p13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ILVBL  -     19p13.12   [Description]    (hg19-Feb_2009)
EnsemblILVBL - 19p13.12 [CytoView hg19]  ILVBL - 19p13.12 [CytoView hg38]
Mapping of homologs : NCBIILVBL [Mapview hg19]  ILVBL [Mapview hg38]
OMIM605770   
Gene and transcription
Genbank (Entrez)AB209065 BC000109 BC011722 BC011761 BC126913
RefSeq transcript (Entrez)NM_006844 NM_176826
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ILVBL
Cluster EST : UnigeneHs.78880 [ NCBI ]
CGAP (NCI)Hs.78880
Alternative Splicing GalleryENSG00000105135
Gene ExpressionILVBL [ NCBI-GEO ]   ILVBL [ EBI - ARRAY_EXPRESS ]   ILVBL [ SEEK ]   ILVBL [ MEM ]
Gene Expression Viewer (FireBrowse)ILVBL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10994
GTEX Portal (Tissue expression)ILVBL
Human Protein AtlasENSG00000105135-ILVBL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA1L0T0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA1L0T0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA1L0T0
Splice isoforms : SwissVarA1L0T0
Catalytic activity : Enzyme2.2.1.- [ Enzyme-Expasy ]   2.2.1.-2.2.1.- [ IntEnz-EBI ]   2.2.1.- [ BRENDA ]   2.2.1.- [ KEGG ]   
PhosPhoSitePlusA1L0T0
Domaine pattern : Prosite (Expaxy)TPP_ENZYMES (PS00187)   
Domains : Interpro (EBI)DHS-like_NAD/FAD-binding_dom    THDP-binding    Thiamin_PyroP_enz_cen_dom    Thiamin_PyroP_enz_TPP-bd_dom    TPP-bd_CS    TPP_enzyme-bd_C   
Domain families : Pfam (Sanger)TPP_enzyme_C (PF02775)    TPP_enzyme_M (PF00205)    TPP_enzyme_N (PF02776)   
Domain families : Pfam (NCBI)pfam02775    pfam00205    pfam02776   
Conserved Domain (NCBI)ILVBL
DMDM Disease mutations10994
Blocks (Seattle)ILVBL
SuperfamilyA1L0T0
Human Protein Atlas [tissue]ENSG00000105135-ILVBL [tissue]
Peptide AtlasA1L0T0
HPRD16152
IPIIPI00554541   IPI01017876   IPI00556506   IPI00556135   IPI00980550   IPI00981109   
Protein Interaction databases
DIP (DOE-UCLA)A1L0T0
IntAct (EBI)A1L0T0
FunCoupENSG00000105135
BioGRIDILVBL
STRING (EMBL)ILVBL
ZODIACILVBL
Ontologies - Pathways
QuickGOA1L0T0
Ontology : AmiGOmagnesium ion binding  molecular_function  protein binding  biological_process  membrane  integral component of membrane  transferase activity  thiamine pyrophosphate binding  
Ontology : EGO-EBImagnesium ion binding  molecular_function  protein binding  biological_process  membrane  integral component of membrane  transferase activity  thiamine pyrophosphate binding  
NDEx NetworkILVBL
Atlas of Cancer Signalling NetworkILVBL
Wikipedia pathwaysILVBL
Orthology - Evolution
OrthoDB10994
GeneTree (enSembl)ENSG00000105135
Phylogenetic Trees/Animal Genes : TreeFamILVBL
HOVERGENA1L0T0
HOGENOMA1L0T0
Homologs : HomoloGeneILVBL
Homology/Alignments : Family Browser (UCSC)ILVBL
Gene fusions - Rearrangements
Fusion: Tumor Portal ILVBL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerILVBL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ILVBL
dbVarILVBL
ClinVarILVBL
1000_GenomesILVBL 
Exome Variant ServerILVBL
ExAC (Exome Aggregation Consortium)ENSG00000105135
GNOMAD BrowserENSG00000105135
Genetic variants : HAPMAP10994
Genomic Variants (DGV)ILVBL [DGVbeta]
DECIPHERILVBL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisILVBL 
Mutations
ICGC Data PortalILVBL 
TCGA Data PortalILVBL 
Broad Tumor PortalILVBL
OASIS PortalILVBL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICILVBL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDILVBL
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 ILVBL
DgiDB (Drug Gene Interaction Database)ILVBL
DoCM (Curated mutations)ILVBL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ILVBL (select a term)
intoGenILVBL
Cancer3DILVBL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605770   
Orphanet
MedgenILVBL
Genetic Testing Registry ILVBL
NextProtA1L0T0 [Medical]
TSGene10994
GENETestsILVBL
Target ValidationILVBL
Huge Navigator ILVBL [HugePedia]
snp3D : Map Gene to Disease10994
BioCentury BCIQILVBL
ClinGenILVBL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10994
Chemical/Pharm GKB GenePA29857
Clinical trialILVBL
Miscellaneous
canSAR (ICR)ILVBL (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineILVBL
EVEXILVBL
GoPubMedILVBL
iHOPILVBL
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 : Thu Nov 9 11:51:32 CET 2017

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