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MACF1 (microtubule-actin crosslinking factor 1)

Identity

Alias_symbol (synonym)KIAA0465
ACF7
ABP620
KIAA1251
MACF
FLJ45612
FLJ46776
Other aliasOFC4
HGNC (Hugo) MACF1
LocusID (NCBI) 23499
Atlas_Id 54438
Location 1p34.3  [Link to chromosome band 1p34]
Location_base_pair Starts at 39549839 and ends at 39952810 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADCYAP1R1 (7p14.3) / MACF1 (1p34.3)BRAF (7q34) / MACF1 (1p34.3)CAP1 (1p34.2) / MACF1 (1p34.3)
CLU (8p21.1) / MACF1 (1p34.3)MACF1 (1p34.3) / AKIRIN1 (1p34.3)MACF1 (1p34.3) / B4GALT2 (1p34.1)
MACF1 (1p34.3) / BRAF (7q34)MACF1 (1p34.3) / C1D (2p14)MACF1 (1p34.3) / CLASP1 (2q14.2)
MACF1 (1p34.3) / DHX58 (17q21.2)MACF1 (1p34.3) / FAF1 (1p32.3)MACF1 (1p34.3) / GRIK3 (1p34.3)
MACF1 (1p34.3) / LOC728558 ()MACF1 (1p34.3) / MARC2 (1q41)MACF1 (1p34.3) / PATJ (1p31.3)
MACF1 (1p34.3) / PHF14 (7p21.3)MACF1 (1p34.3) / PTPRU (1p35.3)MACF1 (1p34.3) / RLF (1p34.2)
MACF1 (1p34.3) / RPS27A (2p16.1)MACF1 (1p34.3) / SERPINA5 (14q32.13)MBD2 (18q21.2) / MACF1 (1p34.3)
PKHD1L1 (8q23.1) / MACF1 (1p34.3)RLF (1p34.2) / MACF1 (1p34.3)SLC30A7 (1p21.2) / MACF1 (1p34.3)
SSR3 (3q25.31) / MACF1 (1p34.3)TNKS1BP1 (11q12.1) / MACF1 (1p34.3)BRAF 7q34 / MACF1 1p34.3
MACF1 1p34.3 / AKIRIN1 1p34.3MACF1 1p34.3 / BRAF 7q34MACF1 1p34.3 / FAF1 1p32.3
MACF1 1p34.3 / GRIK3 1p34.3MACF1 1p34.3 / INADL 1p31.3MACF1 1p34.3 / PTPRU 1p35.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)MACF1   13664
Cards
Entrez_Gene (NCBI)MACF1  23499  microtubule-actin crosslinking factor 1
AliasesABP620; ACF7; MACF; OFC4
GeneCards (Weizmann)MACF1
Ensembl hg19 (Hinxton)ENSG00000127603 [Gene_View]  chr1:39549839-39952810 [Contig_View]  MACF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000127603 [Gene_View]  chr1:39549839-39952810 [Contig_View]  MACF1 [Vega]
ICGC DataPortalENSG00000127603
TCGA cBioPortalMACF1
AceView (NCBI)MACF1
Genatlas (Paris)MACF1
WikiGenes23499
SOURCE (Princeton)MACF1
Genetics Home Reference (NIH)MACF1
Genomic and cartography
GoldenPath hg19 (UCSC)MACF1  -     chr1:39549839-39952810 +  1p34.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MACF1  -     1p34.3   [Description]    (hg38-Dec_2013)
EnsemblMACF1 - 1p34.3 [CytoView hg19]  MACF1 - 1p34.3 [CytoView hg38]
Mapping of homologs : NCBIMACF1 [Mapview hg19]  MACF1 [Mapview hg38]
OMIM608271   
Gene and transcription
Genbank (Entrez)AB007934 AB029290 AB033077 AF317696 AI400583
RefSeq transcript (Entrez)NM_012090 NM_033044
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)MACF1
Cluster EST : UnigeneHs.692278 [ NCBI ]
CGAP (NCI)Hs.692278
Alternative Splicing GalleryENSG00000127603
Gene ExpressionMACF1 [ NCBI-GEO ]   MACF1 [ EBI - ARRAY_EXPRESS ]   MACF1 [ SEEK ]   MACF1 [ MEM ]
Gene Expression Viewer (FireBrowse)MACF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23499
GTEX Portal (Tissue expression)MACF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPN3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPN3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPN3
Splice isoforms : SwissVarQ9UPN3
PhosPhoSitePlusQ9UPN3
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    GAR (PS51460)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    GAS2_dom    Macf1    Plectin_repeat    Spectrin/alpha-actinin    Spectrin_repeat   
Domain families : Pfam (Sanger)CH (PF00307)    EF-hand_7 (PF13499)    GAS2 (PF02187)    Plectin (PF00681)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam00307    pfam13499    pfam02187    pfam00681    pfam00435   
Domain families : Smart (EMBL)CH (SM00033)  EFh (SM00054)  GAS2 (SM00243)  PLEC (SM00250)  SPEC (SM00150)  
Conserved Domain (NCBI)MACF1
DMDM Disease mutations23499
Blocks (Seattle)MACF1
SuperfamilyQ9UPN3
Human Protein AtlasENSG00000127603
Peptide AtlasQ9UPN3
HPRD09750
IPIIPI00432363   IPI00550385   IPI00256861   IPI01018940   IPI00478226   IPI00165470   IPI00908583   IPI01018834   IPI00640975   IPI01012199   IPI01013360   IPI00973851   IPI00256859   IPI00909989   IPI01009065   IPI00977500   IPI00983467   IPI00984092   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPN3
IntAct (EBI)Q9UPN3
FunCoupENSG00000127603
BioGRIDMACF1
STRING (EMBL)MACF1
ZODIACMACF1
Ontologies - Pathways
QuickGOQ9UPN3
Ontology : AmiGOactin binding  calcium ion binding  protein binding  cytoplasm  cytoplasm  Golgi apparatus  cytoskeleton  microtubule  plasma membrane  cell cycle arrest  microtubule binding  metabolic process  regulation of epithelial cell migration  Wnt signaling pathway  ATPase activity  positive regulation of Wnt signaling pathway  ruffle membrane  regulation of microtubule-based process  wound healing  Golgi to plasma membrane protein transport  poly(A) RNA binding  positive regulation of axon extension  actin filament binding  regulation of focal adhesion assembly  
Ontology : EGO-EBIactin binding  calcium ion binding  protein binding  cytoplasm  cytoplasm  Golgi apparatus  cytoskeleton  microtubule  plasma membrane  cell cycle arrest  microtubule binding  metabolic process  regulation of epithelial cell migration  Wnt signaling pathway  ATPase activity  positive regulation of Wnt signaling pathway  ruffle membrane  regulation of microtubule-based process  wound healing  Golgi to plasma membrane protein transport  poly(A) RNA binding  positive regulation of axon extension  actin filament binding  regulation of focal adhesion assembly  
NDEx NetworkMACF1
Atlas of Cancer Signalling NetworkMACF1
Wikipedia pathwaysMACF1
Orthology - Evolution
OrthoDB23499
GeneTree (enSembl)ENSG00000127603
Phylogenetic Trees/Animal Genes : TreeFamMACF1
HOVERGENQ9UPN3
HOGENOMQ9UPN3
Homologs : HomoloGeneMACF1
Homology/Alignments : Family Browser (UCSC)MACF1
Gene fusions - Rearrangements
Fusion : MitelmanBRAF/MACF1 [7q34/1p34.3]  [t(1;7)(p34;q34)]  
Fusion : MitelmanCAP1/MACF1 [1p34.2/1p34.3]  [t(1;1)(p34;p34)]  
Fusion : MitelmanMACF1/AKIRIN1 [1p34.3/1p34.3]  [t(1;1)(p34;p34)]  
Fusion : MitelmanMACF1/BRAF [1p34.3/7q34]  [t(1;7)(p34;q34)]  
Fusion : MitelmanMACF1/FAF1 [1p34.3/1p32.3]  [t(1;1)(p32;p34)]  
Fusion : MitelmanMACF1/GRIK3 [1p34.3/1p34.3]  [t(1;1)(p34;p34)]  
Fusion : MitelmanMACF1/INADL [1p34.3/1p31.3]  [t(1;1)(p31;p34)]  
Fusion : MitelmanMACF1/PTPRU [1p34.3/1p35.3]  [t(1;1)(p34;p35)]  
Fusion : MitelmanSLC30A7/MACF1 [1p21.2/1p34.3]  [t(1;1)(p21;p34)]  
Fusion: TCGABRAF 7q34 MACF1 1p34.3 THCA
Fusion: TCGAMACF1 1p34.3 AKIRIN1 1p34.3 HNSC
Fusion: TCGAMACF1 1p34.3 BRAF 7q34 THCA
Fusion: TCGAMACF1 1p34.3 FAF1 1p32.3 BRCA
Fusion: TCGAMACF1 1p34.3 GRIK3 1p34.3 BRCA
Fusion: TCGAMACF1 1p34.3 INADL 1p31.3 BRCA
Fusion: TCGAMACF1 1p34.3 PTPRU 1p35.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMACF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MACF1
dbVarMACF1
ClinVarMACF1
1000_GenomesMACF1 
Exome Variant ServerMACF1
ExAC (Exome Aggregation Consortium)MACF1 (select the gene name)
Genetic variants : HAPMAP23499
Genomic Variants (DGV)MACF1 [DGVbeta]
DECIPHER (Syndromes)1:39549839-39952810  ENSG00000127603
CONAN: Copy Number AnalysisMACF1 
Mutations
ICGC Data PortalMACF1 
TCGA Data PortalMACF1 
Broad Tumor PortalMACF1
OASIS PortalMACF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMACF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMACF1
intOGen PortalMACF1
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
BioMutasearch MACF1
DgiDB (Drug Gene Interaction Database)MACF1
DoCM (Curated mutations)MACF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MACF1 (select a term)
intoGenMACF1
Cancer3DMACF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608271   
Orphanet
MedgenMACF1
Genetic Testing Registry MACF1
NextProtQ9UPN3 [Medical]
TSGene23499
GENETestsMACF1
Huge Navigator MACF1 [HugePedia]
snp3D : Map Gene to Disease23499
BioCentury BCIQMACF1
ClinGenMACF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23499
Chemical/Pharm GKB GenePA30518
Clinical trialMACF1
Miscellaneous
canSAR (ICR)MACF1 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMACF1
EVEXMACF1
GoPubMedMACF1
iHOPMACF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:08:10 CEST 2017

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