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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MACF1 Gene

protein-coding   GIFtS: 57
GCID: GC01P039546

Microtubule-Actin Crosslinking Factor 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Microtubule-Actin Crosslinking Factor 11 2     Actin Cross-Linking Factor1
Actin Cross-Linking Family Protein 71 2 3     MACF2
ACF72 3 5     OFC42
620 KDa Actin Binding Protein1 2     Microtubule-Actin Cross-Linking Factor 12
Macrophin 11 2     620 KDa Actin-Binding Protein3
trabeculin-alpha1 2     KIAA04653
ABP6202 3     Macrophin-13
KIAA12513 5     Trabeculin-alpha3

External Ids:    HGNC: 136641   Entrez Gene: 234992   Ensembl: ENSG000001276037   OMIM: 6082715   UniProtKB: Q9UPN33   

Export aliases for MACF1 gene to outside databases

Previous GC identifers: GC01P039467 GC01P038550 GC01P039010 GC01P038963 GC01P038960 GC01P039216 GC01P039319 GC01P037666


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 bullous pemphigoid, and schizophrenia. GO annotations related to this gene include ATPase activity and calcium ion binding. An important paralog of this gene is DSP.

UniProtKB/Swiss-Prot: MACF1_HUMAN, Q9UPN3
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 Wiki entry for MACF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MACF1 gene promoter:
         COUP-TF1   IRF-2   COUP-TF   COUP   HNF-4alpha2   NF-kappaB1   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 8): MACF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MACF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MACF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32-p31   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p32-p31

MACF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MACF1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P039546:  view genomic region     (about GC identifiers)

Start:
39,546,988 bp from pter      End:
39,952,849 bp from pter
Size:
405,862 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MACF1_HUMAN, Q9UPN3 (See protein sequence)
Recommended Name: Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5  
Size: 7388 amino acids; 838308 Da
Subunit: 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
Subcellular location: 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
Subcellular location: Isoform 1: Cytoplasm. Golgi apparatus. Note=Localizes to the tips of microtubules
Sequence caution: Sequence=BAA83821.1; Type=Frameshift; Positions=575, 594; Sequence=CAH70156.1; Type=Erroneous
gene model prediction; Sequence=CAH73668.1; Type=Erroneous gene model prediction; Sequence=CAI16417.1;
Type=Erroneous gene model prediction; Sequence=CAI21814.1; Type=Erroneous gene model prediction;
Secondary accessions: B1ALC5 E9PJT0 O75053 Q5VW20 Q8WXY1 Q8WXY2 Q96PK2 Q9H540 Q9UKP0 Q9ULG9
Alternative splicing: 5 isoforms:  Q9UPN3-1   Q9UPN3-2   Q9UPN3-3   Q9UPN3-4   Q9UPN3-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MACF1: NX_Q9UPN3

Explore proteomics data for MACF1 at MOPED 

Post-translational modifications:

  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UPN3

  • MACF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MACF1 Protein Expression
    REFSEQ proteins: NP_036222.3  
    ENSEMBL proteins: 
     ENSP00000434859   ENSP00000473615   ENSP00000455823   ENSP00000362006   ENSP00000354573  
     ENSP00000435070   ENSP00000455274   ENSP00000435892   ENSP00000435078   ENSP00000437059  
     ENSP00000362016   ENSP00000289893   ENSP00000433104   ENSP00000353231   ENSP00000391512  
     ENSP00000407776   ENSP00000412910   ENSP00000439537   ENSP00000313438   ENSP00000444364  
     ENSP00000440369  

    Human Recombinant Protein Products for MACF1: 
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    Novus Biologicals MACF1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MACF1 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005794Golgi apparatus IDA15265687
    GO:0005856cytoskeleton NAS10529403
    GO:0005874microtubule IDA16076900
    GO:0005886plasma membrane IDA--

    MACF1 for ontologies           About GeneDecksing



    MACF1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of MACF1
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    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MACF1
    GenScript Custom Superior Antibodies Services for MACF1
    Novus Biologicals MACF1 Antibodies
    Search for Antibodies for MACF1 at Abcam
    Cloud-Clone Corp. Antibodies for MACF1 
    Search ThermoFisher Antibodies for MACF1
    Search LSBio for Antibodies for MACF1 

    Assay Products for MACF1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MACF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MACF1 
    Cloud-Clone Corp. CLIAs for MACF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    5/9 InterPro protein domains (see all 9):
     IPR003108 GAS2_dom
     IPR002017 Spectrin_repeat
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom
     IPR018159 Spectrin/alpha-actinin

    Graphical View of Domain Structure for InterPro Entry Q9UPN3

    ProtoNet protein and cluster: Q9UPN3

    4 Blocks protein domains:
    IPB001589 Actin-binding
    IPB001715 Calponin-like actin-binding
    IPB002017 Spectrin repeat
    IPB003108 Growth-arrest-specific protein 2


    UniProtKB/Swiss-Prot: MACF1_HUMAN, Q9UPN3
    Domain: The C-terminal tail is required for phosphorylation by GSK3B and for microtubule-binding (By similarity)
    Similarity: Belongs to the plakin or cytolinker family
    Similarity: Contains 1 actin-binding domain
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 1 GAR domain
    Similarity: Contains 24 LRR (leucine-rich) repeats
    Similarity: Contains 11 plectin repeats
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 17 spectrin repeats


    MACF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MACF1_HUMAN, Q9UPN3
    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003779actin binding IDA10559237
    GO:0005509calcium ion binding NAS--
    GO:0005515protein binding IPI11443112
    GO:0008017microtubule binding NAS--
         
    MACF1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MACF1:
     Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Macf1):
     cellular  embryogenesis  homeostasis/metabolism  integument  mortality/aging 
     nervous system  respiratory system 

    MACF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MACF1: Macf1tm1Liem Macf1tm2.2Liem

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MACF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MACF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MACF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MACF1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MACF1
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate MACF1 (see all 34):
    hsa-miR-200a hsa-miR-141 hsa-miR-374c hsa-miR-124 hsa-miR-3613-3p hsa-miR-506 hsa-miR-23a hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidMACF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MACF1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): MACF1 (NM_012090)
    Browse Sino Biological Human cDNA Clones
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    Search LifeMap BioReagents cell lines for MACF1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MACF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MACF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/57 Interacting proteins for MACF1 (Q9UPN31, 2, 3 ENSP000002898934) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DISC1Q9NRI51, 3, ENSP000003555964EBI-522925,EBI-529989 I2D: score=2 STRING: ENSP00000355596
    ATF7IPQ6VMQ62, 3MINT-61902 I2D: score=2 
    SKILP127572, 3MINT-61643 I2D: score=2 
    DAXXQ9UER73I2D: score=1 
    ENSG00000206206Q9UER73I2D: score=1 
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001707mesoderm formation IEA--
    GO:0006200ATP catabolic process ISS--
    GO:0006620posttranslational protein targeting to membrane IEA--
    GO:0006928cellular component movement IEA--
    GO:0007050cell cycle arrest IEA--

    MACF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MACF1

    Search CenterWatch for drugs/clinical trials and news about MACF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MACF1 gene (2 alternative transcripts): 
    NM_012090.5  NM_033044.3  

    Unigene Clusters for MACF1:

    Microtubule-actin crosslinking factor 1
    Hs.472475  [show with all ESTs], Hs.692278  [show with all ESTs]
    Unigene Representative Sequences: AF317696, AK299010
    18/37 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 37):
    ENST00000484793(uc010oir.2) ENST00000602421 ENST00000567887(uc021olt.1 uc021olw.1 uc001cde.2)
    ENST00000372915 ENST00000361689(uc001cda.1) ENST00000524432 ENST00000467673
    ENST00000564288 ENST00000494012 ENST00000480624 ENST00000469366 ENST00000496804(uc009vvq.1)
    ENST00000530262 ENST00000485063 ENST00000472385 ENST00000484393 ENST00000476350(uc001cdb.1)
    ENST00000372925
    miRNA
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    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate MACF1 (see all 34):
    hsa-miR-200a hsa-miR-141 hsa-miR-374c hsa-miR-124 hsa-miR-3613-3p hsa-miR-506 hsa-miR-23a hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidMACF1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Additional mRNA sequence: AK299010.1 

    24/47 DOTS entries (see all 47):

    DT.100845848  DT.456319  DT.97862225  DT.97862226  DT.100747158  DT.121411212  DT.100845850  DT.308262 
    DT.95169213  DT.100645516  DT.91882401  DT.95253158  DT.100845849  DT.121411434  DT.75115816  DT.91745444 
    DT.91836855  DT.95361130  DT.100727278  DT.100845856  DT.100845857  DT.121411229  DT.121411369  DT.121411435 

    11 AceView cDNA sequences:

    CD675344 BX107650 AI017174 AA047436 BX116150 AI804425 AI290294 AA333144 
    AA047475 BM932057 AA046765 

    GeneLoc Exon Structure

    5/20 Alternative Splicing Database (ASD) splice patterns (SP) for MACF1 (see all 20)    About this scheme

    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:                          -     -     -     -                       -                                                     -                 -               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    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:                                                                                                                          -     -     -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    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:                                                  -                                   -                                   -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    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:                                                                                                                                -                           
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 92a · 92b ^ 93a · 93b ^ 94 ^ 95 ^ 96a · 96b ^ 97 ^ 98a · 98b · 98c · 98d ^ 99a · 99b · 99c ^ 100 ^ 101a ·
    SP1:  -                                         -     -     -                                   -     -         
    SP2:  -                                         -     -     -                                   -     -         
    SP3:  -                 -     -     -     -     -     -     -     -     -                       -               
    SP4:                                            -     -     -                                   -               
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for MACF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MACF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCTGTGTG
    MACF1 Expression
    About this image


    See MACF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MACF1

    SOURCE GeneReport for Unigene clusters: Hs.472475 Hs.692278

    UniProtKB/Swiss-Prot: MACF1_HUMAN, Q9UPN3
    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

        SABiosciences Expression via Pathway-Focused PCR Array including MACF1: 
              Cytoskeleton Regulators in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MACF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MACF1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Macf15 microtubule-actin crosslinking factor 1   --   4 (57.42 cM) 123349633 
    chicken
    (Gallus gallus)
    Aves MACF11 microtubule-actin crosslinking factor 1 75.18(n)
    82.46(a)
      419671  NM_001252121.1  NP_001239050.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    86(a)
    42(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    GL343481.1(279481-313393)
    GL343481.1(314239-490910)
    zebrafish
    (Danio rerio)
    Actinopterygii macf11 microtubule-actin crosslinking factor 1 61.29(n)
    60.12(a)
      562190  XM_003200619.1  XP_003200667.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta shot3 microtubule-based process actin binding 25(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea M116.53   -- 48(a)   IV(8414779-8421194)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MACF1 gene
    DSP2  EVPLL2  EVPL2  EPPK12  PPL2  DST2  PLEC2  
    18/24 SIMAP similar genes for MACF1 using alignment to 24 protein entries:     MACF1_HUMAN (see all proteins) (see all similar genes):
    ACF7    HSpTB1    SPTB    PLEC    CATX-15    ORF
    ACTN2    SPNB4    SPTBN2    SPTBN4    DMD    CLMN
    ACTN4    ACTN3    UTRN    SYNE1    DST    SPTBN1

    MACF1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MACF1
    PGOHUM00000243976


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7871 SNPs in MACF1 are shown (see all 7871)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354514
    A breast cancer sample4--see VAR_0354512 E V mis40--------
    VAR_0652564
    A breast cancer sample4--see VAR_0652562 G E mis40--------
    VAR_0354524
    A breast cancer sample4--see VAR_0354522 E Q mis40--------
    rs346878441,2
    C--37725829(+) AAAAA-/A/AA  
            
    GTGCC
    1 -- int11NA 2
    rs96591651,2
    C,F,A,H--39545269(+) CCTAGC/TGTAAC 1 -- us2k122Minor allele frequency- T:0.17NS EA NA WA 2762
    rs112056271,2
    C,H--39545270(+) CTAGCG/ATAACC 1 -- us2k14Minor allele frequency- A:0.03NS EA WA 410
    rs1836364791,2
    --39545286(+) CACCCA/CTCTGG 1 -- us2k10--------
    rs1406606271,2
    C--39545373(+) TTCTT-/TTCC  
            
    TTCCT
    1 -- us2k10--------
    rs610286221,2
    C--39545374(+) TTCCT-/TCCTTCCT/
    TCCTTCCTTCCT
    CTCTT
    2 -- us2k1 cds10--------
    rs1391092901,2
    C--39545374(+) TTCTT-/TTCCT 
     TCCTTCC
    TTCCT
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MACF1 (39546988 - 39796988 bp, first 250kb of MACF1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for MACF1 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2665548CNV Deletion23128226
    esv2671435CNV Deletion23128226
    esv1294628CNV Insertion17803354
    esv268462CNV Insertion20981092
    esv273398CNV Insertion20981092
    nsv506928CNV Insertion20534489
    esv267452CNV Insertion20981092
    esv32941CNV Loss17666407
    nsv870462CNV Loss21882294
    nsv871499CNV Loss21882294


    Human Gene Mutation Database (HGMD): MACF1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MACF1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608271    OMIM disorders: --

    5 diseases for MACF1:    About MalaCards
    bullous pemphigoid    schizophrenia    hepatitis b    neuroblastoma
    hepatitis

    1 disease from the University of Copenhagen DISEASES database for MACF1:
    Bullous pemphigoid

    MACF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MACF1
    Human Genome Epidemiology (HuGE) Navigator: MACF1 (7 documents)

    Export disorders for MACF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MACF1 gene, integrated from 9 sources (see all 64):
    (articles sorted by number of sources associating them with MACF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of macrophin, a human homologue of Drosophila kakapo with a close structural similarity to plectin and dystrophin. (PubMed id 10529403)1, 2, 3 Okuda T....Hamaguchi M. (1999)
    2. MACF1 gene structure: a hybrid of plectin and dystrophin. (PubMed id 11845288)1, 2, 9 Gong T.-W.L.... Lomax M.I. (2001)
    3. Interaction between p230 and MACF1 is associated with transport of a glycosyl phosphatidyl inositol-anchored protein from the Golgi to the cell periphery. (PubMed id 15265687)1, 2, 9 Kakinuma T....Toh B.H. (2004)
    4. Molecular cloning and characterization of human trabeculin-alpha, a giant protein defining a new family of actin-binding proteins. (PubMed id 10559237)1, 2, 9 Sun Y.... Chen L.B. (1999)
    5. Microtubule actin crosslinking factor 1b: a novel plakin that localizes to the Golgi complex. (PubMed id 16076900)1, 2, 9 Lin C.M....Liem R.K. (2005)
    6. ErbB2 receptor controls microtubule capture by recrui ting ACF7 to the plasma membrane of migrating cells. (PubMed id 20937854)1, 2 Zaoui K....Badache A. (2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23499 HGNC: 13664 AceView: MACF1 Ensembl:ENSG00000127603 euGenes: HUgn23499
    ECgene: MACF1 H-InvDB: MACF1

    (According to HUGE)
    About This Section
    HUGE: KIAA1251 KIAA0465

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MACF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MACF1 gene:
    Search GeneIP for patents involving MACF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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