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MMAA (methylmalonic aciduria (cobalamin deficiency) cblA type)

Identity

Other namescblA
HGNC (Hugo) MMAA
LocusID (NCBI) 166785
Atlas_Id 41385
Location 4q31.21
Location_base_pair Starts at 146540540 and ends at 146581187 bp from pter ( according to hg19-Feb_2009)

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)MMAA   18871
Cards
Entrez_Gene (NCBI)MMAA  166785  methylmalonic aciduria (cobalamin deficiency) cblA type
GeneCards (Weizmann)MMAA
Ensembl hg19 (Hinxton)ENSG00000151611 [Gene_View]  chr4:146540540-146581187 [Contig_View]  MMAA [Vega]
Ensembl hg38 (Hinxton)ENSG00000151611 [Gene_View]  chr4:146540540-146581187 [Contig_View]  MMAA [Vega]
ICGC DataPortalENSG00000151611
TCGA cBioPortalMMAA
AceView (NCBI)MMAA
Genatlas (Paris)MMAA
WikiGenes166785
SOURCE (Princeton)MMAA
Genomic and cartography
GoldenPath hg19 (UCSC)MMAA  -     chr4:146540540-146581187 +  4q31.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MMAA  -     4q31.21   [Description]    (hg38-Dec_2013)
EnsemblMMAA - 4q31.21 [CytoView hg19]  MMAA - 4q31.21 [CytoView hg38]
Mapping of homologs : NCBIMMAA [Mapview hg19]  MMAA [Mapview hg38]
OMIM251100   607481   
Gene and transcription
Genbank (Entrez)AK094722 AK126662 BC101178 BC101179 BC101180
RefSeq transcript (Entrez)NM_172250
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_007536 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)MMAA
Cluster EST : UnigeneHs.452864 [ NCBI ]
CGAP (NCI)Hs.452864
Alternative Splicing : Fast-db (Paris)GSHG0022894
Alternative Splicing GalleryENSG00000151611
Gene ExpressionMMAA [ NCBI-GEO ]     MMAA [ SEEK ]   MMAA [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IVH4 (Uniprot)
NextProtQ8IVH4  [Medical]  [Publications]
With graphics : InterProQ8IVH4
Splice isoforms : SwissVarQ8IVH4 (Swissvar)
Catalytic activity : Enzyme3.6.-.- [ Enzyme-Expasy ]   3.6.-.-3.6.-.- [ IntEnz-EBI ]   3.6.-.- [ BRENDA ]   3.6.-.- [ KEGG ]   
Domains : Interpro (EBI)AAA+_ATPase    ArgK    P-loop_NTPase   
Related proteins : CluSTrQ8IVH4
Domain families : Pfam (Sanger)ArgK (PF03308)   
Domain families : Pfam (NCBI)pfam03308   
Domain families : Smart (EMBL)AAA (SM00382)  
DMDM Disease mutations166785
Blocks (Seattle)Q8IVH4
PDB (SRS)2WWW   
PDB (PDBSum)2WWW   
PDB (IMB)2WWW   
PDB (RSDB)2WWW   
Human Protein AtlasENSG00000151611
Peptide AtlasQ8IVH4
HPRD07394
IPIIPI01012901   IPI00217023   IPI01012884   IPI00967596   
Protein Interaction databases
DIP (DOE-UCLA)Q8IVH4
IntAct (EBI)Q8IVH4
FunCoupENSG00000151611
BioGRIDMMAA
IntegromeDBMMAA
STRING (EMBL)MMAA
Ontologies - Pathways
QuickGOQ8IVH4
Ontology : AmiGOGTP binding  mitochondrial matrix  fatty acid beta-oxidation  vitamin metabolic process  water-soluble vitamin metabolic process  cobalamin metabolic process  cobalamin biosynthetic process  hydrolase activity  short-chain fatty acid catabolic process  cellular lipid metabolic process  small molecule metabolic process  
Ontology : EGO-EBIGTP binding  mitochondrial matrix  fatty acid beta-oxidation  vitamin metabolic process  water-soluble vitamin metabolic process  cobalamin metabolic process  cobalamin biosynthetic process  hydrolase activity  short-chain fatty acid catabolic process  cellular lipid metabolic process  small molecule metabolic process  
Protein Interaction DatabaseMMAA
DoCM (Curated mutations)MMAA
Wikipedia pathwaysMMAA
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerMMAA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMAA
dbVarMMAA
ClinVarMMAA
1000_GenomesMMAA 
Exome Variant ServerMMAA
SNP (GeneSNP Utah)MMAA
SNP : HGBaseMMAA
Genetic variants : HAPMAPMMAA
Genomic Variants (DGV)MMAA [DGVbeta]
Mutations
ICGC Data PortalMMAA 
TCGA Data PortalMMAA 
Tumor PortalMMAA
Somatic Mutations in Cancer : COSMICMMAA 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)4:146540540-146581187
CONAN: Copy Number AnalysisMMAA 
Mutations and Diseases : HGMDMMAA
OMIM251100    607481   
MedgenMMAA
NextProtQ8IVH4 [Medical]
GENETestsMMAA
Disease Genetic AssociationMMAA
Huge Navigator MMAA [HugePedia]  MMAA [HugeCancerGEM]
snp3D : Map Gene to Disease166785
DGIdb (Drug Gene Interaction db)MMAA
BioCentury BCIQMMAA
General knowledge
Homologs : HomoloGeneMMAA
Homology/Alignments : Family Browser (UCSC)MMAA
Phylogenetic Trees/Animal Genes : TreeFamMMAA
Chemical/Protein Interactions : CTD166785
Chemical/Pharm GKB GenePA134912808
Clinical trialMMAA
Cancer Resource (Charite)ENSG00000151611
Other databases
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
CoreMineMMAA
GoPubMedMMAA
iHOPMMAA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:55:51 CEST 2015

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