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MMAB (methylmalonic aciduria (cobalamin deficiency) cblB type)

Identity

Alias_namesmethylmalonic aciduria (cobalamin deficiency) type B
Alias_symbol (synonym)cblB
CFAP23
Other aliasATR
cob
HGNC (Hugo) MMAB
LocusID (NCBI) 326625
Atlas_Id 70347
Location 12q24.11  [Link to chromosome band 12q24]
Location_base_pair Starts at 109553716 and ends at 109573553 bp from pter ( according to hg38-Dec_2013)

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)MMAB   19331
Cards
Entrez_Gene (NCBI)MMAB  326625  methylmalonic aciduria (cobalamin deficiency) cblB type
AliasesATR; CFAP23; cblB; cob
GeneCards (Weizmann)MMAB
Ensembl hg19 (Hinxton)ENSG00000139428 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139428 [Gene_View]  chr12:109553716-109573553 [Contig_View]  MMAB [Vega]
ICGC DataPortalENSG00000139428
TCGA cBioPortalMMAB
AceView (NCBI)MMAB
Genatlas (Paris)MMAB
WikiGenes326625
SOURCE (Princeton)MMAB
Genetics Home Reference (NIH)MMAB
Genomic and cartography
GoldenPath hg38 (UCSC)MMAB  -     chr12:109553716-109573553 -  12q24.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MMAB  -     12q24.11   [Description]    (hg19-Feb_2009)
EnsemblMMAB - 12q24.11 [CytoView hg19]  MMAB - 12q24.11 [CytoView hg38]
Mapping of homologs : NCBIMMAB [Mapview hg19]  MMAB [Mapview hg38]
OMIM251110   607568   
Gene and transcription
Genbank (Entrez)AK295211 AK312598 BC005054 BC011831 BI497024
RefSeq transcript (Entrez)NM_052845
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MMAB
Cluster EST : UnigeneHs.12106 [ NCBI ]
CGAP (NCI)Hs.12106
Alternative Splicing GalleryENSG00000139428
Gene ExpressionMMAB [ NCBI-GEO ]   MMAB [ EBI - ARRAY_EXPRESS ]   MMAB [ SEEK ]   MMAB [ MEM ]
Gene Expression Viewer (FireBrowse)MMAB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)326625
GTEX Portal (Tissue expression)MMAB
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96EY8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96EY8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96EY8
Splice isoforms : SwissVarQ96EY8
Catalytic activity : Enzyme2.5.1.17 [ Enzyme-Expasy ]   2.5.1.172.5.1.17 [ IntEnz-EBI ]   2.5.1.17 [ BRENDA ]   2.5.1.17 [ KEGG ]   
PhosPhoSitePlusQ96EY8
Domains : Interpro (EBI)AdoCbl_synth_CblAdoTrfase-like    PduO-typ   
Domain families : Pfam (Sanger)Cob_adeno_trans (PF01923)   
Domain families : Pfam (NCBI)pfam01923   
Domain structure : Prodom (Prabi Lyon)AdoCbl_syn_CblAdoTrfase_PduO_N (PD007457)   
Conserved Domain (NCBI)MMAB
DMDM Disease mutations326625
Blocks (Seattle)MMAB
PDB (SRS)2IDX   
PDB (PDBSum)2IDX   
PDB (IMB)2IDX   
PDB (RSDB)2IDX   
Structural Biology KnowledgeBase2IDX   
SCOP (Structural Classification of Proteins)2IDX   
CATH (Classification of proteins structures)2IDX   
SuperfamilyQ96EY8
Human Protein AtlasENSG00000139428
Peptide AtlasQ96EY8
HPRD07398
IPIIPI00029665   IPI01013400   IPI00789857   IPI01009656   IPI01015415   IPI01015747   
Protein Interaction databases
DIP (DOE-UCLA)Q96EY8
IntAct (EBI)Q96EY8
FunCoupENSG00000139428
BioGRIDMMAB
STRING (EMBL)MMAB
ZODIACMMAB
Ontologies - Pathways
QuickGOQ96EY8
Ontology : AmiGOprotein binding  ATP binding  mitochondrial matrix  cob(I)yrinic acid a,c-diamide adenosyltransferase activity  cob(I)yrinic acid a,c-diamide adenosyltransferase activity  cobalamin metabolic process  cobalamin biosynthetic process  
Ontology : EGO-EBIprotein binding  ATP binding  mitochondrial matrix  cob(I)yrinic acid a,c-diamide adenosyltransferase activity  cob(I)yrinic acid a,c-diamide adenosyltransferase activity  cobalamin metabolic process  cobalamin biosynthetic process  
Pathways : KEGGPorphyrin and chlorophyll metabolism   
NDEx NetworkMMAB
Atlas of Cancer Signalling NetworkMMAB
Wikipedia pathwaysMMAB
Orthology - Evolution
OrthoDB326625
GeneTree (enSembl)ENSG00000139428
Phylogenetic Trees/Animal Genes : TreeFamMMAB
HOVERGENQ96EY8
HOGENOMQ96EY8
Homologs : HomoloGeneMMAB
Homology/Alignments : Family Browser (UCSC)MMAB
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMMAB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMAB
dbVarMMAB
ClinVarMMAB
1000_GenomesMMAB 
Exome Variant ServerMMAB
ExAC (Exome Aggregation Consortium)MMAB (select the gene name)
Genetic variants : HAPMAP326625
Genomic Variants (DGV)MMAB [DGVbeta]
DECIPHERMMAB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMMAB 
Mutations
ICGC Data PortalMMAB 
TCGA Data PortalMMAB 
Broad Tumor PortalMMAB
OASIS PortalMMAB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMMAB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMMAB
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)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MMAB
DgiDB (Drug Gene Interaction Database)MMAB
DoCM (Curated mutations)MMAB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MMAB (select a term)
intoGenMMAB
Cancer3DMMAB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM251110    607568   
Orphanet11337   
MedgenMMAB
Genetic Testing Registry MMAB
NextProtQ96EY8 [Medical]
TSGene326625
GENETestsMMAB
Target ValidationMMAB
Huge Navigator MMAB [HugePedia]
snp3D : Map Gene to Disease326625
BioCentury BCIQMMAB
ClinGenMMAB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD326625
Chemical/Pharm GKB GenePA134864025
Clinical trialMMAB
Miscellaneous
canSAR (ICR)MMAB (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMMAB
EVEXMMAB
GoPubMedMMAB
iHOPMMAB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:31:09 CEST 2017

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