Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria)

Identity

Alias_symbol (synonym)DKFZP564I122
cblC
Other alias
HGNC (Hugo) MMACHC
LocusID (NCBI) 25974
Atlas_Id 50922
Location 1p34.1  [Link to chromosome band 1p34]
Location_base_pair Starts at 45965856 and ends at 45976739 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABCA4 (1p22.1) / MMACHC (1p34.1)GTDC1 (2q22.3) / MMACHC (1p34.1)KIAA2026 (9p24.1) / MMACHC (1p34.1)

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)MMACHC   24525
Cards
Entrez_Gene (NCBI)MMACHC  25974  methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
AliasescblC
GeneCards (Weizmann)MMACHC
Ensembl hg19 (Hinxton)ENSG00000132763 [Gene_View]  chr1:45965856-45976739 [Contig_View]  MMACHC [Vega]
Ensembl hg38 (Hinxton)ENSG00000132763 [Gene_View]  chr1:45965856-45976739 [Contig_View]  MMACHC [Vega]
ICGC DataPortalENSG00000132763
TCGA cBioPortalMMACHC
AceView (NCBI)MMACHC
Genatlas (Paris)MMACHC
WikiGenes25974
SOURCE (Princeton)MMACHC
Genetics Home Reference (NIH)MMACHC
Genomic and cartography
GoldenPath hg19 (UCSC)MMACHC  -     chr1:45965856-45976739 +  1p34.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MMACHC  -     1p34.1   [Description]    (hg38-Dec_2013)
EnsemblMMACHC - 1p34.1 [CytoView hg19]  MMACHC - 1p34.1 [CytoView hg38]
Mapping of homologs : NCBIMMACHC [Mapview hg19]  MMACHC [Mapview hg38]
OMIM277400   609831   
Gene and transcription
Genbank (Entrez)AK098537 AL080062 BC006122 BM980565 BU632364
RefSeq transcript (Entrez)NM_015506
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_013378 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)MMACHC
Cluster EST : UnigeneHs.13024 [ NCBI ]
CGAP (NCI)Hs.13024
Alternative Splicing GalleryENSG00000132763
Gene ExpressionMMACHC [ NCBI-GEO ]   MMACHC [ EBI - ARRAY_EXPRESS ]   MMACHC [ SEEK ]   MMACHC [ MEM ]
Gene Expression Viewer (FireBrowse)MMACHC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25974
GTEX Portal (Tissue expression)MMACHC
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4U1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4U1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4U1
Splice isoforms : SwissVarQ9Y4U1
PhosPhoSitePlusQ9Y4U1
Domains : Interpro (EBI)MMACHC   
Domain families : Pfam (Sanger)MMACHC (PF16690)   
Domain families : Pfam (NCBI)pfam16690   
Conserved Domain (NCBI)MMACHC
DMDM Disease mutations25974
Blocks (Seattle)MMACHC
PDB (SRS)3SBY    3SBZ    3SC0    3SOM   
PDB (PDBSum)3SBY    3SBZ    3SC0    3SOM   
PDB (IMB)3SBY    3SBZ    3SC0    3SOM   
PDB (RSDB)3SBY    3SBZ    3SC0    3SOM   
Structural Biology KnowledgeBase3SBY    3SBZ    3SC0    3SOM   
SCOP (Structural Classification of Proteins)3SBY    3SBZ    3SC0    3SOM   
CATH (Classification of proteins structures)3SBY    3SBZ    3SC0    3SOM   
SuperfamilyQ9Y4U1
Human Protein AtlasENSG00000132763
Peptide AtlasQ9Y4U1
HPRD18585
IPIIPI00001053   IPI00979618   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4U1
IntAct (EBI)Q9Y4U1
FunCoupENSG00000132763
BioGRIDMMACHC
STRING (EMBL)MMACHC
ZODIACMMACHC
Ontologies - Pathways
QuickGOQ9Y4U1
Ontology : AmiGOprotein binding  mitochondrion  cytosol  cobalamin metabolic process  cobalamin metabolic process  cobalamin biosynthetic process  oxidoreductase activity  cobalamin binding  cyanocobalamin reductase (cyanide-eliminating) activity  oxidation-reduction process  
Ontology : EGO-EBIprotein binding  mitochondrion  cytosol  cobalamin metabolic process  cobalamin metabolic process  cobalamin biosynthetic process  oxidoreductase activity  cobalamin binding  cyanocobalamin reductase (cyanide-eliminating) activity  oxidation-reduction process  
Pathways : KEGGVitamin digestion and absorption   
NDEx NetworkMMACHC
Atlas of Cancer Signalling NetworkMMACHC
Wikipedia pathwaysMMACHC
Orthology - Evolution
OrthoDB25974
GeneTree (enSembl)ENSG00000132763
Phylogenetic Trees/Animal Genes : TreeFamMMACHC
HOVERGENQ9Y4U1
HOGENOMQ9Y4U1
Homologs : HomoloGeneMMACHC
Homology/Alignments : Family Browser (UCSC)MMACHC
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMMACHC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMACHC
dbVarMMACHC
ClinVarMMACHC
1000_GenomesMMACHC 
Exome Variant ServerMMACHC
ExAC (Exome Aggregation Consortium)MMACHC (select the gene name)
Genetic variants : HAPMAP25974
Genomic Variants (DGV)MMACHC [DGVbeta]
DECIPHER (Syndromes)1:45965856-45976739  ENSG00000132763
CONAN: Copy Number AnalysisMMACHC 
Mutations
ICGC Data PortalMMACHC 
TCGA Data PortalMMACHC 
Broad Tumor PortalMMACHC
OASIS PortalMMACHC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMMACHC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMMACHC
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 MMACHC
DgiDB (Drug Gene Interaction Database)MMACHC
DoCM (Curated mutations)MMACHC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MMACHC (select a term)
intoGenMMACHC
Cancer3DMMACHC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM277400    609831   
Orphanet11308   
MedgenMMACHC
Genetic Testing Registry MMACHC
NextProtQ9Y4U1 [Medical]
TSGene25974
GENETestsMMACHC
Huge Navigator MMACHC [HugePedia]
snp3D : Map Gene to Disease25974
BioCentury BCIQMMACHC
ClinGenMMACHC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25974
Chemical/Pharm GKB GenePA142671348
Clinical trialMMACHC
Miscellaneous
canSAR (ICR)MMACHC (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMMACHC
EVEXMMACHC
GoPubMedMMACHC
iHOPMMACHC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:17:06 CET 2017

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