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MIEF1 (mitochondrial elongation factor 1)

Identity

Alias_namesSMCR7L
Smith-Magenis syndrome chromosome region
Alias_symbol (synonym)FLJ20232
MiD51
Other aliasHSU79252
MID51
dJ1104E15.3
HGNC (Hugo) MIEF1
LocusID (NCBI) 54471
Atlas_Id 56068
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 39896105 and ends at 39914139 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MIEF1 (22q13.1) / MIEF1 (22q13.1)PTPN18 (2q21.1) / MIEF1 (22q13.1)TPCN2 (11q13.3) / MIEF1 (22q13.1)

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)MIEF1   25979
Cards
Entrez_Gene (NCBI)MIEF1  54471  mitochondrial elongation factor 1
AliasesHSU79252; MID51; SMCR7L; dJ1104E15.3
GeneCards (Weizmann)MIEF1
Ensembl hg19 (Hinxton)ENSG00000100335 [Gene_View]  chr22:39896105-39914139 [Contig_View]  MIEF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100335 [Gene_View]  chr22:39896105-39914139 [Contig_View]  MIEF1 [Vega]
ICGC DataPortalENSG00000100335
TCGA cBioPortalMIEF1
AceView (NCBI)MIEF1
Genatlas (Paris)MIEF1
WikiGenes54471
SOURCE (Princeton)MIEF1
Genetics Home Reference (NIH)MIEF1
Genomic and cartography
GoldenPath hg19 (UCSC)MIEF1  -     chr22:39896105-39914139 +  22q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MIEF1  -     22q13.1   [Description]    (hg38-Dec_2013)
EnsemblMIEF1 - 22q13.1 [CytoView hg19]  MIEF1 - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBIMIEF1 [Mapview hg19]  MIEF1 [Mapview hg38]
OMIM615497   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001304564 NM_013298 NM_019008
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MIEF1
Cluster EST : UnigeneHs.728085 [ NCBI ]
CGAP (NCI)Hs.728085
Alternative Splicing GalleryENSG00000100335
Gene ExpressionMIEF1 [ NCBI-GEO ]   MIEF1 [ EBI - ARRAY_EXPRESS ]   MIEF1 [ SEEK ]   MIEF1 [ MEM ]
Gene Expression Viewer (FireBrowse)MIEF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54471
GTEX Portal (Tissue expression)MIEF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQG6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQG6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQG6
Splice isoforms : SwissVarQ9NQG6
PhosPhoSitePlusQ9NQG6
Domains : Interpro (EBI)Mab-21_dom   
Domain families : Pfam (Sanger)Mab-21 (PF03281)   
Domain families : Pfam (NCBI)pfam03281   
Domain families : Smart (EMBL)Mab-21 (SM01265)  
Conserved Domain (NCBI)MIEF1
DMDM Disease mutations54471
Blocks (Seattle)MIEF1
PDB (SRS)4NXT    4NXU    4NXV    4NXW    4NXX   
PDB (PDBSum)4NXT    4NXU    4NXV    4NXW    4NXX   
PDB (IMB)4NXT    4NXU    4NXV    4NXW    4NXX   
PDB (RSDB)4NXT    4NXU    4NXV    4NXW    4NXX   
Structural Biology KnowledgeBase4NXT    4NXU    4NXV    4NXW    4NXX   
SCOP (Structural Classification of Proteins)4NXT    4NXU    4NXV    4NXW    4NXX   
CATH (Classification of proteins structures)4NXT    4NXU    4NXV    4NXW    4NXX   
SuperfamilyQ9NQG6
Human Protein AtlasENSG00000100335
Peptide AtlasQ9NQG6
HPRD13371
IPIIPI00396121   IPI00465336   IPI00300223   IPI00878714   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQG6
IntAct (EBI)Q9NQG6
FunCoupENSG00000100335
BioGRIDMIEF1
STRING (EMBL)MIEF1
ZODIACMIEF1
Ontologies - Pathways
QuickGOQ9NQG6
Ontology : AmiGOmitochondrial fission  protein binding  mitochondrion  mitochondrial outer membrane  peroxisome  mitochondrial fusion  integral component of membrane  GDP binding  ADP binding  positive regulation of mitochondrial fission  positive regulation of mitochondrial fission  positive regulation of protein targeting to membrane  positive regulation of protein targeting to membrane  
Ontology : EGO-EBImitochondrial fission  protein binding  mitochondrion  mitochondrial outer membrane  peroxisome  mitochondrial fusion  integral component of membrane  GDP binding  ADP binding  positive regulation of mitochondrial fission  positive regulation of mitochondrial fission  positive regulation of protein targeting to membrane  positive regulation of protein targeting to membrane  
NDEx NetworkMIEF1
Atlas of Cancer Signalling NetworkMIEF1
Wikipedia pathwaysMIEF1
Orthology - Evolution
OrthoDB54471
GeneTree (enSembl)ENSG00000100335
Phylogenetic Trees/Animal Genes : TreeFamMIEF1
HOVERGENQ9NQG6
HOGENOMQ9NQG6
Homologs : HomoloGeneMIEF1
Homology/Alignments : Family Browser (UCSC)MIEF1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMIEF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MIEF1
dbVarMIEF1
ClinVarMIEF1
1000_GenomesMIEF1 
Exome Variant ServerMIEF1
ExAC (Exome Aggregation Consortium)MIEF1 (select the gene name)
Genetic variants : HAPMAP54471
Genomic Variants (DGV)MIEF1 [DGVbeta]
DECIPHER (Syndromes)22:39896105-39914139  ENSG00000100335
CONAN: Copy Number AnalysisMIEF1 
Mutations
ICGC Data PortalMIEF1 
TCGA Data PortalMIEF1 
Broad Tumor PortalMIEF1
OASIS PortalMIEF1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMIEF1
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MIEF1
DgiDB (Drug Gene Interaction Database)MIEF1
DoCM (Curated mutations)MIEF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MIEF1 (select a term)
intoGenMIEF1
Cancer3DMIEF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615497   
Orphanet
MedgenMIEF1
Genetic Testing Registry MIEF1
NextProtQ9NQG6 [Medical]
TSGene54471
GENETestsMIEF1
Huge Navigator MIEF1 [HugePedia]
snp3D : Map Gene to Disease54471
BioCentury BCIQMIEF1
ClinGenMIEF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54471
Chemical/Pharm GKB GenePA145148068
Clinical trialMIEF1
Miscellaneous
canSAR (ICR)MIEF1 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMIEF1
EVEXMIEF1
GoPubMedMIEF1
iHOPMIEF1
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 : Tue Mar 14 13:15:12 CET 2017

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