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Aliases for MACF1 Gene

Aliases for MACF1 Gene

  • Microtubule-Actin Crosslinking Factor 1 2 3
  • Actin Cross-Linking Family Protein 7 2 3 4
  • Trabeculin-Alpha 2 3 4
  • ACF7 3 4 6
  • 620 KDa Actin Binding Protein 2 3
  • Macrophin 1 2 3
  • KIAA1251 4 6
  • ABP620 3 4
  • Microtubule-Actin Cross-Linking Factor 1 3
  • 620 KDa Actin-Binding Protein 4
  • Actin Cross-Linking Factor 2
  • Macrophin-1 4
  • KIAA0465 4
  • MACF 3
  • OFC4 3

External Ids for MACF1 Gene

Previous GeneCards Identifiers for MACF1 Gene

  • GC01P039467
  • GC01P038550
  • GC01P039010
  • GC01P038963
  • GC01P038960
  • GC01P039216
  • GC01P039319
  • GC01P039546
  • GC01P037666

Summaries for MACF1 Gene

Entrez Gene Summary for MACF1 Gene

  • This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]

GeneCards Summary for MACF1 Gene

MACF1 (Microtubule-Actin Crosslinking Factor 1) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and microtubule binding. An important paralog of this gene is DST.

UniProtKB/Swiss-Prot for MACF1 Gene

  • Isoform 2 is a F-actin-binding protein which may play a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules. Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane. Has actin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics. May play role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with GOLGA4. Plays a key role in wound healing and epidermal cell migration. Required for efficient upward migration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate MT dynamics and polarize hair follicle stem cells (By similarity).

Gene Wiki entry for MACF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MACF1 Gene

Genomics for MACF1 Gene

Regulatory Elements for MACF1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MACF1 Gene

Start:
39,081,316 bp from pter
End:
39,487,177 bp from pter
Size:
405,862 bases
Orientation:
Plus strand

Genomic View for MACF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MACF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MACF1 Gene

Proteins for MACF1 Gene

  • Protein details for MACF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPN3-MACF1_HUMAN
    Recommended name:
    Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5
    Protein Accession:
    Q9UPN3
    Secondary Accessions:
    • B1ALC5
    • E9PJT0
    • O75053
    • Q5VW20
    • Q8WXY1
    • Q8WXY2
    • Q96PK2
    • Q9H540
    • Q9UKP0
    • Q9ULG9

    Protein attributes for MACF1 Gene

    Size:
    7388 amino acids
    Molecular mass:
    838308 Da
    Quaternary structure:
    • Isoform 2 interacts with MAPRE1, CLASP1, CLASP2, AXIN1 and LRP6 (By similarity). Isoform 2 is found in a complex composed of MACF1, APC, AXIN1, CTNNB1 and GSK3B (By similarity). Isoform 2 interacts with GOLGA4.
    SequenceCaution:
    • Sequence=BAA83821.1; Type=Frameshift; Positions=575, 594; Evidence={ECO:0000305}; Sequence=CAH70156.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73668.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16417.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21814.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for MACF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MACF1 Gene

Proteomics data for MACF1 Gene at MOPED

Post-translational modifications for MACF1 Gene

  • Phosphorylated on serine residues in the C-terminal tail by GSK3B. Phosphorylation inhibits microtubule-binding and this plays a critical role in bulge stem cell migration and skin wound repair. Wnt-signaling can repress phosphorylation (By similarity).
  • Ubiquitination at Lys1645, Lys1712, Lys2019, Lys2667, Lys2705, Lys3279, Lys3458, Lys3506, and Lys4306
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MACF1 Gene

Domains for MACF1 Gene

Gene Families for MACF1 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Graphical View of Domain Structure for InterPro Entry

Q9UPN3

UniProtKB/Swiss-Prot:

MACF1_HUMAN :
  • Q9UPN3
Domain:
  • The C-terminal tail is required for phosphorylation by GSK3B and for microtubule-binding.
  • Contains 1 actin-binding domain.
  • Contains 2 CH (calponin-homology) domains.
  • Contains 2 EF-hand domains.
  • Contains 1 GAR domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the plakin or cytolinker family.
Similarity:
  • Contains 24 LRR (leucine-rich) repeats.
  • Contains 11 plectin repeats.
  • Contains 17 spectrin repeats.
genes like me logo Genes that share domains with MACF1: view

Function for MACF1 Gene

Molecular function for MACF1 Gene

UniProtKB/Swiss-Prot Function: Isoform 2 is a F-actin-binding protein which may play a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules. Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane. Has actin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics. May play role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with GOLGA4. Plays a key role in wound healing and epidermal cell migration. Required for efficient upward migration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate MT dynamics and polarize hair follicle stem cells (By similarity).

Gene Ontology (GO) - Molecular Function for MACF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003779 actin binding IDA 10559237
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 11443112
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with MACF1: view
genes like me logo Genes that share phenotypes with MACF1: view

Animal Models for MACF1 Gene

MGI Knock Outs for MACF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MACF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MACF1 Gene

Localization for MACF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MACF1 Gene

Isoform 2: Cytoplasm, cytoskeleton. Cytoplasm. Golgi apparatus. Cell membrane. Cell projection, ruffle membrane. Note=The phosphorylated form is found in the cytoplasm while the non-phosphorylated form associates with the microtubules (By similarity). Localizes to the tips of microtubules. APC controls its localization to the cell membrane which is critical for its function in microtubule stabilization. {ECO:0000250}.
Isoform 1: Cytoplasm. Golgi apparatus. Note=Localizes to the tips of microtubules.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MACF1 Gene COMPARTMENTS Subcellular localization image for MACF1 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
plasma membrane 5
cytosol 3
chloroplast 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MACF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus IDA 15265687
GO:0005856 cytoskeleton NAS 10529403
GO:0005874 microtubule IDA 16076900
GO:0005886 plasma membrane IDA 20937854
genes like me logo Genes that share ontologies with MACF1: view

Pathways for MACF1 Gene

SuperPathways for MACF1 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Cytoskeleton Regulators in human,mouse,rat

Gene Ontology (GO) - Biological Process for MACF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001707 mesoderm formation IEA --
GO:0006200 obsolete ATP catabolic process --
GO:0006620 posttranslational protein targeting to membrane IEA --
GO:0006928 movement of cell or subcellular component --
GO:0007050 cell cycle arrest IEA --
genes like me logo Genes that share ontologies with MACF1: view

No data available for Pathways by source for MACF1 Gene

Transcripts for MACF1 Gene

Unigene Clusters for MACF1 Gene

Microtubule-actin crosslinking factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MACF1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MACF1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MACF1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^
SP1: - - - - - - -
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SP6: -
SP7: - - - - -
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SP11: -
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ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45 ^
SP1: - - -
SP2: - - -
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ExUns: 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62a · 62b ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70 ^
SP1: -
SP2: - - -
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SP19:
SP20:

ExUns: 71 ^ 72 ^ 73 ^ 74 ^ 75 ^ 76 ^ 77 ^ 78a · 78b ^ 79 ^ 80a · 80b ^ 81 ^ 82 ^ 83 ^ 84 ^ 85 ^ 86 ^ 87a · 87b ^ 88 ^ 89a · 89b ^ 90 ^ 91a · 91b ^
SP1: -
SP2: -
SP3: -
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SP11:
SP12:
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SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

ExUns: 92a · 92b ^ 93a · 93b ^ 94 ^ 95 ^ 96a · 96b ^ 97 ^ 98a · 98b · 98c · 98d ^ 99a · 99b · 99c ^ 100 ^ 101a ·
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14: - - -
SP15: -
SP16: - -
SP17:
SP18:
SP19:
SP20:

Relevant External Links for MACF1 Gene

GeneLoc Exon Structure for
MACF1
ECgene alternative splicing isoforms for
MACF1

Expression for MACF1 Gene

mRNA expression in normal human tissues for MACF1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MACF1 Gene

SOURCE GeneReport for Unigene cluster for MACF1 Gene Hs.472475

mRNA Expression by UniProt/SwissProt for MACF1 Gene

Q9UPN3-MACF1_HUMAN
Tissue specificity: Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in cell lines NCI-H460, A-549 and HaCaT. Isoform 4 is expressed in heart, lung, pituitary and placenta, not found in brain, kidney, liver, pancreas or skeletal muscle.
genes like me logo Genes that share expressions with MACF1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MACF1 Gene

Orthologs for MACF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MACF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MACF1 35
  • 99.68 (n)
  • 99.69 (a)
cow
(Bos Taurus)
Mammalia MACF1 35
  • 90.7 (n)
  • 94.85 (a)
MACF1 36
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MACF1 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Macf1 16
Macf1 36
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MACF1 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MACF1 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 79 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia MACF1 36
  • 86 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii macf1 36
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta shot 36
  • 18 (a)
OneToMany
shot 37
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea vab-10 36
  • 24 (a)
OneToMany
M116.5 37
  • 48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 73 (a)
OneToMany
Species with no ortholog for MACF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MACF1 Gene

ENSEMBL:
Gene Tree for MACF1 (if available)
TreeFam:
Gene Tree for MACF1 (if available)

Paralogs for MACF1 Gene

Paralogs for MACF1 Gene

Pseudogenes.org Pseudogenes for MACF1 Gene

genes like me logo Genes that share paralogs with MACF1: view

Variants for MACF1 Gene

Sequence variations from dbSNP and Humsavar for MACF1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs169010 -- 39,100,624(+) tgagg(C/T)gggca intron-variant
rs185470 -- 39,093,821(-) aaaag(C/T)gcaag intron-variant
rs260962 -- 39,105,955(+) GCCCT(A/G)TTATC intron-variant
rs260963 -- 39,093,628(-) tgtgc(C/G)tgtag intron-variant
rs260964 -- 39,092,100(+) GATAG(C/T)ATTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MACF1 Gene

Variant ID Type Subtype PubMed ID
nsv870829 CNV Gain 21882294
esv2665548 CNV Deletion 23128226
nsv515793 CNV Loss 19592680
esv2671435 CNV Deletion 23128226
esv32941 CNV Loss 17666407
esv267452 CNV Insertion 20981092
esv273398 CNV Insertion 20981092
esv268462 CNV Insertion 20981092
nsv820058 CNV Loss 19587683
nsv506928 CNV Insertion 20534489
esv1294628 CNV Insertion 17803354
nsv871499 CNV Loss 21882294
nsv7177 OTHER Inversion 18451855
nsv870462 CNV Loss 21882294

Relevant External Links for MACF1 Gene

HapMap Linkage Disequilibrium report
MACF1
Human Gene Mutation Database (HGMD)
MACF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MACF1 Gene

Disorders for MACF1 Gene

(1) University of Copenhagen DISEASES for MACF1 Gene

Relevant External Links for MACF1

Genetic Association Database (GAD)
MACF1
Human Genome Epidemiology (HuGE) Navigator
MACF1
genes like me logo Genes that share disorders with MACF1: view

No data available for UniProtKB/Swiss-Prot for MACF1 Gene

Publications for MACF1 Gene

  1. Molecular cloning and characterization of human trabeculin-alpha, a giant protein defining a new family of actin-binding proteins. (PMID: 10559237) Sun Y. … Chen L.B. (J. Biol. Chem. 1999) 3 4 23
  2. MACF1 gene structure: a hybrid of plectin and dystrophin. (PMID: 11845288) Gong T.-W.L. … Lomax M.I. (Mamm. Genome 2001) 3 4 23
  3. Microtubule actin crosslinking factor 1b: a novel plakin that localizes to the Golgi complex. (PMID: 16076900) Lin C.-M. … Liem R.K.H. (J. Cell Sci. 2005) 3 4 23
  4. Interaction between p230 and MACF1 is associated with transport of a glycosyl phosphatidyl inositol-anchored protein from the Golgi to the cell periphery. (PMID: 15265687) Kakinuma T. … Toh B.H. (Exp. Cell Res. 2004) 3 4 23
  5. Molecular cloning of macrophin, a human homologue of Drosophila kakapo with a close structural similarity to plectin and dystrophin. (PMID: 10529403) Okuda T. … Hamaguchi M. (Biochem. Biophys. Res. Commun. 1999) 2 3 4

Products for MACF1 Gene

Sources for MACF1 Gene

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