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Aliases for MACF1 Gene

Aliases for MACF1 Gene

  • Microtubule-Actin Crosslinking Factor 1 5 2 3
  • Actin Cross-Linking Family Protein 7 2 3 4
  • Trabeculin-Alpha 2 3 4
  • 620 KDa Actin Binding Protein 2 3
  • Macrophin 1 2 3
  • ABP620 3 4
  • ACF7 3 4
  • 620 KDa Actin-Binding Protein 4
  • Actin Cross-Linking Factor 2
  • Macrophin 1 Isoform 3
  • Macrophin-1 4
  • KIAA0465 4
  • KIAA1251 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. Diseases associated with MACF1 include recurrent hypersomnia and hypochondriasis. GO annotations related to this gene include nucleic acid binding and calcium ion 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

Promoters for MACF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MACF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MACF1 Gene

Chromosome:
1
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

Genes around MACF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MACF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 1645, Lys 1712, Lys 2019, Lys 2667, Lys 2705, Lys 3279, Lys 3458, Lys 3506, and Lys 4306
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MACF1 Gene

Domains & Families for MACF1 Gene

Gene Families for MACF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UPN3

UniProtKB/Swiss-Prot:

MACF1_HUMAN :
  • The C-terminal tail is required for phosphorylation by GSK3B and for microtubule-binding.
  • Belongs to the plakin or cytolinker family.
  • Contains 24 LRR (leucine-rich) repeats.
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:0005515 protein binding IEA,IPI 11443112
GO:0044822 poly(A) RNA binding IDA 22681889
GO:0051015 actin filament binding NAS 10529403
genes like me logo Genes that share ontologies with MACF1: view
genes like me logo Genes that share phenotypes with MACF1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for MACF1 Gene

Pathways & Interactions for MACF1 Gene

SuperPathways for MACF1 Gene

No Data Available

SIGNOR curated interactions for MACF1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for MACF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007050 cell cycle arrest IEA --
GO:0010632 regulation of epithelial cell migration ISS --
GO:0016055 Wnt signaling pathway IEA --
GO:0043001 Golgi to plasma membrane protein transport IDA 15265687
genes like me logo Genes that share ontologies with MACF1: view

No data available for Pathways by source for MACF1 Gene

Drugs & Compounds for MACF1 Gene

No Compound Related Data Available

Transcripts for MACF1 Gene

mRNA/cDNA for MACF1 Gene

Unigene Clusters for MACF1 Gene

Microtubule-actin crosslinking factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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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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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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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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:
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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

Protein differential expression in normal tissues from HIPED for MACF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.5), Fetal Brain (8.0), and Retina (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MACF1: view

Protein tissue co-expression partners for MACF1 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia MACF1 35
  • 90.7 (n)
  • 94.85 (a)
MACF1 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MACF1 35
  • 99.68 (n)
  • 99.69 (a)
dog
(Canis familiaris)
Mammalia MACF1 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MACF1 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Macf1 36
  • 67 (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 37
  • 25 (a)
shot 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M116.5 37
  • 48 (a)
vab-10 36
  • 24 (a)
OneToMany
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
VAR_035451 A breast cancer sample
VAR_035452 A breast cancer sample
rs2296172 - 39,370,145(+) CTTCT(A/G)TGAGT reference, missense
rs682351 - 39,442,277(+) ACTCA(A/G)ACACC reference, missense
rs587404 - 39,442,834(+) TGGAA(A/G)CCATG reference, missense

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

Variation tolerance for MACF1 Gene

Residual Variation Intolerance Score: 0.247% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.31; 98.14% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(3) MalaCards diseases for MACF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
recurrent hypersomnia
  • primary recurrent hypersomnia
hypochondriasis
  • hypochondria
autoimmune disease of skin and connective tissue
- elite association - COSMIC cancer census association via MalaCards
Search MACF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MACF1

Genetic Association Database (GAD)
MACF1
Human Genome Epidemiology (HuGE) Navigator
MACF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MACF1
genes like me logo Genes that share disorders with MACF1: view

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

Publications for MACF1 Gene

  1. 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 67
  2. 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 23
  3. 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 23
  4. Characterization of the microtubule binding domain of microtubule actin crosslinking factor (MACF): identification of a novel group of microtubule associated proteins. (PMID: 11112700) Sun D. … Liem R.K. (J. Cell. Sci. 2001) 3 23
  5. MACF1 gene structure: a hybrid of plectin and dystrophin. (PMID: 11845288) Gong T.-W.L. … Lomax M.I. (Mamm. Genome 2001) 3 23

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