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MACO1 (macoilin 1)

Identity

Other aliasMACOILIN
TMEM57
HGNC (Hugo) MACO1
LocusID (NCBI) 55219
Atlas_Id 80616
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 25430858 and ends at 25500207 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


External links

Nomenclature
HGNC (Hugo)MACO1   25572
Cards
Entrez_Gene (NCBI)MACO1  55219  macoilin 1
AliasesMACOILIN; TMEM57
GeneCards (Weizmann)MACO1
Ensembl hg19 (Hinxton)ENSG00000204178 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204178 [Gene_View]  ENSG00000204178 [Sequence]  chr1:25430858-25500207 [Contig_View]  MACO1 [Vega]
ICGC DataPortalENSG00000204178
TCGA cBioPortalMACO1
AceView (NCBI)MACO1
Genatlas (Paris)MACO1
WikiGenes55219
SOURCE (Princeton)MACO1
Genetics Home Reference (NIH)MACO1
Genomic and cartography
GoldenPath hg38 (UCSC)MACO1  -     chr1:25430858-25500207 +  1p36.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MACO1  -     1p36.11   [Description]    (hg19-Feb_2009)
GoldenPathMACO1 - 1p36.11 [CytoView hg19]  MACO1 - 1p36.11 [CytoView hg38]
ImmunoBaseENSG00000204178
Mapping of homologs : NCBIMACO1 [Mapview hg19]  MACO1 [Mapview hg38]
OMIM610301   
Gene and transcription
Genbank (Entrez)AA827805 AK001609 AK311472 AY845015 AY845035
RefSeq transcript (Entrez)NM_001282564 NM_018202
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MACO1
Cluster EST : UnigeneHs.189782 [ NCBI ]
CGAP (NCI)Hs.189782
Alternative Splicing GalleryENSG00000204178
Gene ExpressionMACO1 [ NCBI-GEO ]   MACO1 [ EBI - ARRAY_EXPRESS ]   MACO1 [ SEEK ]   MACO1 [ MEM ]
Gene Expression Viewer (FireBrowse)MACO1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55219
GTEX Portal (Tissue expression)MACO1
Human Protein AtlasENSG00000204178-MACO1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N5G2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N5G2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N5G2
Splice isoforms : SwissVarQ8N5G2
PhosPhoSitePlusQ8N5G2
Domains : Interpro (EBI)Macoilin   
Domain families : Pfam (Sanger)Macoilin (PF09726)   
Domain families : Pfam (NCBI)pfam09726   
Conserved Domain (NCBI)MACO1
DMDM Disease mutations55219
Blocks (Seattle)MACO1
SuperfamilyQ8N5G2
Human Protein Atlas [tissue]ENSG00000204178-MACO1 [tissue]
Peptide AtlasQ8N5G2
IPIIPI00296938   IPI00719801   IPI00373988   
Protein Interaction databases
DIP (DOE-UCLA)Q8N5G2
IntAct (EBI)Q8N5G2
FunCoupENSG00000204178
BioGRIDMACO1
STRING (EMBL)MACO1
ZODIACMACO1
Ontologies - Pathways
QuickGOQ8N5G2
Ontology : AmiGOmolecular_function  nucleus  chemotaxis  brain development  microtubule binding  integral component of membrane  neuronal signal transduction  neuronal signal transduction  axon  rough endoplasmic reticulum membrane  rough endoplasmic reticulum membrane  nuclear membrane  nuclear membrane  neuron projection terminus  synapse  actin filament binding  
Ontology : EGO-EBImolecular_function  nucleus  chemotaxis  brain development  microtubule binding  integral component of membrane  neuronal signal transduction  neuronal signal transduction  axon  rough endoplasmic reticulum membrane  rough endoplasmic reticulum membrane  nuclear membrane  nuclear membrane  neuron projection terminus  synapse  actin filament binding  
NDEx NetworkMACO1
Atlas of Cancer Signalling NetworkMACO1
Wikipedia pathwaysMACO1
Orthology - Evolution
OrthoDB55219
GeneTree (enSembl)ENSG00000204178
Phylogenetic Trees/Animal Genes : TreeFamMACO1
HOGENOMQ8N5G2
Homologs : HomoloGeneMACO1
Homology/Alignments : Family Browser (UCSC)MACO1
Gene fusions - Rearrangements
Fusion : QuiverMACO1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMACO1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MACO1
dbVarMACO1
ClinVarMACO1
1000_GenomesMACO1 
Exome Variant ServerMACO1
ExAC (Exome Aggregation Consortium)ENSG00000204178
GNOMAD BrowserENSG00000204178
Varsome BrowserMACO1
Genetic variants : HAPMAP55219
Genomic Variants (DGV)MACO1 [DGVbeta]
DECIPHERMACO1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMACO1 
Mutations
ICGC Data PortalMACO1 
TCGA Data PortalMACO1 
Broad Tumor PortalMACO1
OASIS PortalMACO1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMACO1
BioMutasearch MACO1
DgiDB (Drug Gene Interaction Database)MACO1
DoCM (Curated mutations)MACO1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MACO1 (select a term)
intoGenMACO1
Cancer3DMACO1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610301   
Orphanet
DisGeNETMACO1
MedgenMACO1
Genetic Testing Registry MACO1
NextProtQ8N5G2 [Medical]
TSGene55219
GENETestsMACO1
Target ValidationMACO1
Huge Navigator MACO1 [HugePedia]
snp3D : Map Gene to Disease55219
BioCentury BCIQMACO1
ClinGenMACO1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55219
Chemical/Pharm GKB GenePA142670773
Clinical trialMACO1
Miscellaneous
canSAR (ICR)MACO1 (select the gene name)
DataMed IndexMACO1
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMACO1
EVEXMACO1
GoPubMedMACO1
iHOPMACO1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Sep 3 15:51:31 CEST 2019

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