MACF1 (microtubule actin crosslinking factor 1)

2014-08-01  

Identity

HGNC
LOCATION
1p34.3
LOCUSID
ALIAS
ABP620,ACF7,LIS9,Lnc-PMIF,MACF,OFC4
FUSION GENES

Other Information

Locus ID:

NCBI: 23499
MIM: 608271
HGNC: 13664
Ensembl: ENSG00000127603

Variants:

dbSNP: 23499
ClinVar: 23499
TCGA: ENSG00000127603
COSMIC: MACF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127603ENST00000360115H0Y314
ENSG00000127603ENST00000361689Q9UPN3
ENSG00000127603ENST00000372915Q9UPN3
ENSG00000127603ENST00000372925H0Y390
ENSG00000127603ENST00000422234H0Y7I1
ENSG00000127603ENST00000442046H0Y6T5
ENSG00000127603ENST00000446276H0Y4F5
ENSG00000127603ENST00000484793B4DQX9
ENSG00000127603ENST00000494012E9PS75
ENSG00000127603ENST00000496804E9PLY0
ENSG00000127603ENST00000524432E9PLY5
ENSG00000127603ENST00000530262E9PNZ4
ENSG00000127603ENST00000530275A0A0A6YYJ5
ENSG00000127603ENST00000564288H3BPE1
ENSG00000127603ENST00000567887H3BQK9
ENSG00000127603ENST00000602421B4DQX9
ENSG00000127603ENST00000671089A0A590UJG2

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Oncogenic MAPK signalingREACTOMER-HSA-6802957
Signaling by BRAF and RAF fusionsREACTOMER-HSA-6802952

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
209378542010ErbB2 receptor controls microtubule capture by recruiting ACF7 to the plasma membrane of migrating cells.51
194059532009Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.38
160769002005Microtubule actin crosslinking factor 1b: a novel plakin that localizes to the Golgi complex.30
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
278021682016Control of apico-basal epithelial polarity by the microtubule minus-end-binding protein CAMSAP3 and spectraplakin ACF7.22
152656872004Interaction between p230 and MACF1 is associated with transport of a glycosyl phosphatidyl inositol-anchored protein from the Golgi to the cell periphery.20
231849442013ELMO recruits actin cross-linking family 7 (ACF7) at the cell membrane for microtubule capture and stabilization of cellular protrusions.17
276935092016The CAMSAP3-ACF7 Complex Couples Noncentrosomal Microtubules with Actin Filaments to Coordinate Their Dynamics.13

Citation

Dessen P

MACF1 (microtubule actin crosslinking factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54438/macf1-(microtubule-actin-crosslinking-factor-1)