Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MBLAC1 (metallo-beta-lactamase domain containing 1)

Identity

Alias_symbol (synonym)MGC49416
Other alias-
HGNC (Hugo) MBLAC1
LocusID (NCBI) 255374
Atlas_Id 68830
Location 7q22.1  [Link to chromosome band 7q22]
Location_base_pair Starts at 100126694 and ends at 100128498 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)

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)MBLAC1   22180
Cards
Entrez_Gene (NCBI)MBLAC1  255374  metallo-beta-lactamase domain containing 1
Aliases
GeneCards (Weizmann)MBLAC1
Ensembl hg19 (Hinxton)ENSG00000214309 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000214309 [Gene_View]  chr7:100126694-100128498 [Contig_View]  MBLAC1 [Vega]
ICGC DataPortalENSG00000214309
TCGA cBioPortalMBLAC1
AceView (NCBI)MBLAC1
Genatlas (Paris)MBLAC1
WikiGenes255374
SOURCE (Princeton)MBLAC1
Genetics Home Reference (NIH)MBLAC1
Genomic and cartography
GoldenPath hg38 (UCSC)MBLAC1  -     chr7:100126694-100128498 +  7q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MBLAC1  -     7q22.1   [Description]    (hg19-Feb_2009)
EnsemblMBLAC1 - 7q22.1 [CytoView hg19]  MBLAC1 - 7q22.1 [CytoView hg38]
Mapping of homologs : NCBIMBLAC1 [Mapview hg19]  MBLAC1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AW449216 AW772344 BC031288 BQ441096
RefSeq transcript (Entrez)NM_203397
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MBLAC1
Cluster EST : UnigeneHs.632319 [ NCBI ]
CGAP (NCI)Hs.632319
Alternative Splicing GalleryENSG00000214309
Gene ExpressionMBLAC1 [ NCBI-GEO ]   MBLAC1 [ EBI - ARRAY_EXPRESS ]   MBLAC1 [ SEEK ]   MBLAC1 [ MEM ]
Gene Expression Viewer (FireBrowse)MBLAC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)255374
GTEX Portal (Tissue expression)MBLAC1
Human Protein AtlasENSG00000214309-MBLAC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA4D2B0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA4D2B0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA4D2B0
Splice isoforms : SwissVarA4D2B0
PhosPhoSitePlusA4D2B0
Domains : Interpro (EBI)Metallo-B-lactamas   
Domain families : Pfam (Sanger)Lactamase_B (PF00753)   
Domain families : Pfam (NCBI)pfam00753   
Domain families : Smart (EMBL)Lactamase_B (SM00849)  
Conserved Domain (NCBI)MBLAC1
DMDM Disease mutations255374
Blocks (Seattle)MBLAC1
PDB (SRS)4V0H   
PDB (PDBSum)4V0H   
PDB (IMB)4V0H   
PDB (RSDB)4V0H   
Structural Biology KnowledgeBase4V0H   
SCOP (Structural Classification of Proteins)4V0H   
CATH (Classification of proteins structures)4V0H   
SuperfamilyA4D2B0
Human Protein Atlas [tissue]ENSG00000214309-MBLAC1 [tissue]
Peptide AtlasA4D2B0
HPRD18584
IPIIPI00926544   IPI00926504   
Protein Interaction databases
DIP (DOE-UCLA)A4D2B0
IntAct (EBI)A4D2B0
FunCoupENSG00000214309
BioGRIDMBLAC1
STRING (EMBL)MBLAC1
ZODIACMBLAC1
Ontologies - Pathways
QuickGOA4D2B0
Ontology : AmiGOhydrolase activity  metal ion binding  
Ontology : EGO-EBIhydrolase activity  metal ion binding  
NDEx NetworkMBLAC1
Atlas of Cancer Signalling NetworkMBLAC1
Wikipedia pathwaysMBLAC1
Orthology - Evolution
OrthoDB255374
GeneTree (enSembl)ENSG00000214309
Phylogenetic Trees/Animal Genes : TreeFamMBLAC1
HOVERGENA4D2B0
HOGENOMA4D2B0
Homologs : HomoloGeneMBLAC1
Homology/Alignments : Family Browser (UCSC)MBLAC1
Gene fusions - Rearrangements
Tumor Fusion PortalMBLAC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBLAC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBLAC1
dbVarMBLAC1
ClinVarMBLAC1
1000_GenomesMBLAC1 
Exome Variant ServerMBLAC1
ExAC (Exome Aggregation Consortium)ENSG00000214309
GNOMAD BrowserENSG00000214309
Genetic variants : HAPMAP255374
Genomic Variants (DGV)MBLAC1 [DGVbeta]
DECIPHERMBLAC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMBLAC1 
Mutations
ICGC Data PortalMBLAC1 
TCGA Data PortalMBLAC1 
Broad Tumor PortalMBLAC1
OASIS PortalMBLAC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBLAC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMBLAC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MBLAC1
DgiDB (Drug Gene Interaction Database)MBLAC1
DoCM (Curated mutations)MBLAC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBLAC1 (select a term)
intoGenMBLAC1
Cancer3DMBLAC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETMBLAC1
MedgenMBLAC1
Genetic Testing Registry MBLAC1
NextProtA4D2B0 [Medical]
TSGene255374
GENETestsMBLAC1
Target ValidationMBLAC1
Huge Navigator MBLAC1 [HugePedia]
snp3D : Map Gene to Disease255374
BioCentury BCIQMBLAC1
ClinGenMBLAC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD255374
Chemical/Pharm GKB GenePA164722227
Clinical trialMBLAC1
Miscellaneous
canSAR (ICR)MBLAC1 (select the gene name)
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMBLAC1
EVEXMBLAC1
GoPubMedMBLAC1
iHOPMBLAC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:16:31 CET 2017

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