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FLASH GENE
Symbol MACF1 contributors: mct/npt - updated : 30-04-2012
HGNC name microtubule-actin crosslinking factor 1
HGNC id 13664
Location 1p34.3      Physical location : 39.547.117 - 39.952.789
Synonym name
  • macrophin, actin crosslinking protein, superfamily member 7
  • trabeculin-alpha
  • 620 kDa actin binding protein
  • spectraplakin
  • macrophin 1
  • Synonym symbol(s) KIAA0465, ACF7, ABP620, KIAA1251, FLJ45612, FLJ46776, OFC4, MACF
    DNA
    TYPE functioning gene
    STRUCTURE 405.67 kb     98 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map see OXCT2 OXCT2
    Physical map
    FLJ45459 1p34.2 FLJ45459 protein SF3A3 1p34.1 splicing factor 3a, subunit 3, 60kDa FHL3 1p34.2-p32.3 four and a half LIM domains 3 CGI-94 1p34.2 comparative gene identification transcript 94 POU3F1 1p34.1 POU domain, class 3, transcription factor 1 LOC343259 1p34.2 similar to 78 kDa glucose-regulated protein precursor (GRP 78) (Immunoglobulin heavy chain binding protein) (BiP) (Endoplasmic reticulum lumenal Ca(2+) binding protein grp78) RRAGC 1p34 Ras-related GTP binding C MYCBP 1p33-p32.2 c-myc binding protein GJA10 1p35-p34 gap junction protein, alpha 10, 59kDa RHBDL2 1p35.1 rhomboid, veinlet-like 2 (Drosophila) FLJ12666 1p34.2 hypothetical protein FLJ12666 NDUFS5 1p34.2-p33 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) MACF1 1p32-p31 microtubule-actin crosslinking factor 1 BMP8A 1p34.2 bone morphogenetic protein 8a OXCT2P 1p34.2 3-oxoacid CoA transferase 2 pseudogene FLJ14351 1p34.2 hypothetical protein FLJ14351 PABPC4 1p36-p32 poly(A) binding protein, cytoplasmic 4 (inducible form) HEYL 1p34.3 hairy/enhancer-of-split related with YRPW motif-like NT5C1A 1p34.3-p33 5'-nucleotidase, cytosolic IA HPCAL4 1p34.2 hippocalcin like 4 PPIE 1p32 peptidylprolyl isomerase E (cyclophilin E) BMP8B 1p35-p32 bone morphogenetic protein 8 b(osteogenic protein 2) OXCT2 1p34 3-oxoacid CoA transferase 2 IPT 1p35.3-p34.1 3-oxoacid CoA transferase 2 MYCL1 1p34.2 v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) FLJ14490 1p34.2 hypothetical protein FLJ14490 CAP1 1p34.2 CAP, adenylate cyclase-associated protein 1 (yeast) PPT1 1p32 palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile) RLF 1p32 rearranged L-myc fusion sequence
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    98 - 17821 620.3 5430 - 1999 10559237
    - splicing 1400 - 258 - 1999 10559237
    only seven exons (near the 3' end of variant 1)
    - splicing 8000 - 2350 - 1999 10559237
    utilizing an alternative splice site at exon 45
    64 - 19271 670.1 5938 - 1999 10559237
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrineneuroendocrinepituitary  highly
    Respiratoryrespiratory tractlarynx  highly
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumenthair follicle cell Homo sapiens
    Visualganglion cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal actin-binding domain
  • binding sites for both F-actin via its calponin homology (CH) domains and MTs via its GAS2-related (GAR) domain and/or GSR repeats
  • a central rod region with 37 spectrin-like repeats and a C terminal GAS2-related region
  • two calponin-homology (CH) domains
  • an intrinsic actin-regulated ATPase domain
  • two EF-hand calcium-binding domains and a SH3 domain
  • a microtubule binding domain
  • ATPase domain that is required for microtubule tracking along actin fibers toward focal adhesions
  • HOMOLOGY
    interspecies ortholog to Drosophila kakapo
    homolog to murine Aclp7
    intraspecies homolog to plectin and dystrophin
    Homologene
    FAMILY
  • actin crosslinking protein superfamily
  • plakin family of cytoskeletal linker protein (spectraplakin family)
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • targeting to the plasma membrane is both required and sufficient for microtubule capture downstream of ERBB2
  • basic FUNCTION
  • forming bridges between different cytoskeletal elements through specialized modular domains
  • stabilizing actin at sites where microtubules and microfilaments meet, and essential integrator of microtubule dynamics
  • multidomain protein that can associate with microfilaments and microtubules
  • may be playing a role in the Wnt signaling pathway
  • can function as an ATPase, and, importantly, it behaves as an actin-regulated rather than microtubules- or calcium-regulated ATPase
  • having particular functions in establishing and maintaining proper cytoskeletal coordination during cell movement
  • MACF1 and SHOX2 regulate the organisation of neuronal microtubules, a role dependent on both the F-actin- and microtubule-binding domains
  • having functions in regulating dynamic interactions between microtubules and F-actin to sustain directional cell movement
  • MACF1 and SHOX2 regulate the organisation of neuronal microtubules, a role dependent on both the F-actin- and microtubule-binding domains
  • required and sufficient for MT capture, probably via its ability to interact with ANKS1B at MT ends
  • seems to use two different modes of action associated with distinct functions: displacement along actin might require motor-like activity, whereas MT capture might not
  • integrates signaling, cytoskeletal dynamics, and polarized locomotion of somatic stem cells
  • regulates MT growth as well as the dynamics of focal adhesions associated with F-actin
  • critical in CNS development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    Wnt signaling pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • interacting with ANKS1B
  • role for ELMO2 in the recruitment of MACF1 to the membrane to promote microtubule capture and stability
  • cell & other
  • microfilament and actin filament cross-linker
  • REGULATION
    Phosphorylated by GSK3B, a kinase inhibited by Wnt signaling, that directly phosphorylates MACF1
    Other upregulated upon differentiation of myoblasts into myotubes
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS