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MACF1 Gene

protein-coding   GIFtS: 60

GC01P039319
microtubule-actin crosslinking factor 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
ABP620 1, 2, 3
ACF7 1, 2, 3, 5
FLJ45612 1, 2
FLJ46776 1, 2
KIAA0465 1, 2, 3
KIAA1251 1, 2, 3, 5
MACF 1, 2
Macrophin-1 3
OFC4 2
OTTHUMP00000009301 2
OTTHUMP00000009303 2
Trabeculin-alpha 3
trabeculin-alpha 2
Descriptions
620 kDa actin binding protein 2
620 kDa actin-binding protein 3
Actin cross-linking family protein 7 2, 3
actin cross-linking factor 2
macrophin 1 2
microfilament and actin filament cross-linker protein 2
microtubule-actin crosslinking factor 1 2
External Ids
HGNC: 136641
Entrez Gene: 234992
UniProtKB: Q9UPN33
UniProtKB: Q96PK23
Ensembl: ENSG000001276037
Search outside databases for aliases for MACF1 gene

Previous GC identifers: GC01P039467 GC01P038550 GC01P039010 GC01P038963 GC01P038960 GC01P039216

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

EntrezGene summary for MACF1:
The protein encoded by this gene belongs to the plakin family of cytoskeletal linker proteins. This
protein family forms bridges between different cytoskeletal elements through specialized modular
domains. The encoded protein is one of the largest size proteins identified in human cytoskeletal
proteins. It has functional actin and microtubule binding domains, and it appears to stabilize
actin at sites where microtubules and microfilaments meet. It may function in microtubule dynamics
to facilitate actin-microtubule interactions at the cell periphery and to couple the microtubule
network to cellular junctions. Alternatively spliced transcript variants encoding distinct
isoforms have been described. [provided by RefSeq]

UniProtKB/Swiss-Prot: MACF4_HUMAN, Q96PK2
Function: May play a role in cross-linking cytoskeletal proteins by binding intermediate filaments
to the N-terminal plectin repeats and microtubules to the C-terminus

Gene Wiki entry for MACF1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MACF1 gene  

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)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P039319:     (about GC identifiers)

Start:
39,319,705 bp from pter
End:
39,725,376 bp from pter
Size:
405,672 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_032977.8  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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: 5430 amino acids; 620418 Da
Subcellular location: Cytoplasm, cytoskeleton
Secondary accessions: O75053 Q5VW20 Q8WXY2 Q9H540 Q9UKP0 Q9ULG9
Alternative splicing: 5 isoforms:  Q9UPN3-2   Q9UPN3-1   Q9UPN3-3   Q96PK2-1   Q9UPN3-4   

UniProtKB/Swiss-Prot: MACF4_HUMAN, Q96PK2 (See protein sequence)

Recommended Name: Microtubule-actin cross-linking factor 1, isoform 4  
Size: 5938 amino acids; 670151 Da
Subcellular location: Cytoplasm, cytoskeleton (By similarity)
Secondary accessions: Q8WXY1
Alternative splicing: 5 isoforms:  Q96PK2-1   Q9UPN3-1   Q9UPN3-2   Q9UPN3-3   Q9UPN3-4   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_036222.3  NP_149033.2  


    ENSEMBL proteins: 
    ENSP00000289893 ENSP00000362006 ENSP00000353231 ENSP00000337600 ENSP00000361991 ENSP00000313438 
    ENSP00000386085 ENSP00000354573 ENSP00000289890 ENSP00000362016 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Acf7)
    Human Recombinant Proteins from Abnova (MACF1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm ISS--
    GO:0005856 cytoskeleton NAS10529403
    About this table

    Antibodies for MACF1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for MACF1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Acf7), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (MACF1)
    Novus Biologicals Antibodies for MACF1

    Assays for MACF1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/11 InterPro domains/families (see all 11 ):
     IPR003108 GAS2
     IPR018247 EF_HAND_1
     IPR002017 Spectrin_repeat
     IPR001715 Calponin_act_bd
     IPR011992 EF-Hand_type


       GeneDecks  MACF1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9UPN3
    Graphical View of Domain Structure for InterPro Entry Q96PK2

    ProtoNet protein and cluster: Q9UPN3

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


    UniProtKB/Swiss-Prot: MACF1_HUMAN, Q9UPN3
    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 SH3 domain
    Similarity: Contains 37 spectrin repeats

    UniProtKB/Swiss-Prot: MACF4_HUMAN, Q96PK2
    Similarity: Belongs to the plakin or cytolinker family
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 19 plectin repeats
    Similarity: Contains 32 spectrin repeats

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MACF1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MACF1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_033044

                  Applied Biosystems Silencer® siRNAs for MACF1

                  Sigma-Aldrich siRNA and siRNA Panels for MACF1  
                         Sigma-Aldrich shRNA Panels and shRNA for MACF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_012090
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_012090
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_012090 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_033044

    UniProtKB/Swiss-Prot: MACF1_HUMAN, Q9UPN3
    Function: F-actin-binding protein which may play a role in cross-linking actin to other
    cytoskeletal proteins. Also binds to microtubules (By similarity)

    UniProtKB/Swiss-Prot: MACF4_HUMAN, Q96PK2
    Function: May play a role in cross-linking cytoskeletal proteins by binding intermediate filaments
    to the N-terminal plectin repeats and microtubules to the C-terminus

    4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Macf1):

    embryogenesishomeostasis/metabolismlethality-prenatal/perinatalskin/coat/nails

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509 calcium ion binding NAS--
    GO:0005515 protein binding IPI17043677
    GO:0008017 microtubule binding NAS--
    GO:0051015 actin filament binding NAS10529403 10559237
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  MACF1 


    5/13 Interacting proteins for MACF1 (ENSP000002898933 Q9UPN31, 2) via UniProtKB, MINT, and/or STRING (see all 13 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DISC1Q9NRI51EBI-522925, EBI-529989
    ATF7IPQ6VMQ62MINT-61902
    SKILP127572MINT-61643
    WNT1ENSP000002935493STRING (score=.926)
    GSK3BENSP000003248063STRING (score=.923)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007050 cell cycle arrest IEA--
    GO:0008150 biological_process ND--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for MACF1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MACF1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MACF1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_033044

                  Sigma-Aldrich siRNA and siRNA Panels for MACF1  
                         Sigma-Aldrich shRNA Panels and shRNA for MACF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_012090  NM_033044  

    REFSEQ mRNAs for MACF1 gene (2 alternative transcripts): 

    NM_012090.3   NM_033044.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_012090  NM_033044  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_012090
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_012090
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_012090 

    Additional cDNA sequence: 

    AB007934.3 AB029290.1 AB033077.1 AF317696.1 AK023285.1 AK023406.1 AK023821.1 AK127519.1 
    AK297854.1 AK299010.1 AK304414.1 BC007330.2 BC071925.1 BC107866.1 BX647441.1 CR597314.1 

    24/48 DOTS entries (see all 48 ):

    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.91743056  DT.100727278  DT.121411434 
    DT.91745444  DT.121411229  DT.40262169  DT.65284224  DT.75115816  DT.91836855  DT.95361130  DT.100845856 

    11 AceView cDNA sequences:

    CD675344 BX107650 AI017174 AI290294 BX116150 AA047436 AI804425 AA333144 
    AA047475 BM932057 AA046765 

    highest scoring ESTs for MACF1:

    AB007934 AA059074 AA059168 AA169568 AA195678 AA195679 AA214545 AA278170 AA278402 AA303170 

    Unigene Cluster for MACF1:

    Microtubule-actin crosslinking factor 1
    Hs.580782  [show with all ESTs]
    Unigene Representative Sequence: NM_033044


    GeneLoc Exon Structure

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

    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:                                                                                                            

    About this scheme

    ECgene alternative splicing isoforms for MACF1

    10 Ensembl transcripts including schematic representations:
    ENST00000289893  ENST00000372915  ENST00000360115  ENST00000335924  ENST00000372900  ENST00000317713  
    ENST00000404645  ENST00000361689  ENST00000289890  ENST00000372925  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    MACF1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for MACF1

    1 / 2 / 3

    20 probe-sets matching MACF1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    38704_at2, 3 U95-A 1 1.00 1.00 0.79 1.64 AB007934 1.00 0.90 0.95 1

    80665_r_at2, 3 U95-E 6 1.00 0.95 0.02 0.37 AI963771 0.80 1.00 0.91 1

    55840_at2, 3 U95-B 1 0.94 1.00 -0.04 1.32 AA046493 0.60 1.00 0.82 1

    85786_at2, 3 U95-E 1 0.88 1.00 0.68 0.79 T79797 0.40 1.00 0.76 1

    69219_at2, 3 U95-D 1 0.38 1.00 0.47 0.93 AI703088 0.60 1.00 0.82 1

    214894_x_at2, 3 U133-A 1 1.00 1.00 -- -- AK023285 0.80 1.00 0.91 1

    208633_s_at2, 3 U133-A 1 1.00 1.00 -- -- W61052 0.80 1.00 0.91 1

    215222_x_at2, 3 U133-A 1 1.00 1.00 -- -- AK023406 0.60 1.00 0.82 1

    241896_at2, 3 U133-B 1 1.00 1.00 -- -- AI017174 0.60 1.00 0.82 1

    207358_x_at2, 3 U133-A 1 1.00 1.00 -- -- NM_012090 0.60 1.00 0.82 1

    208634_s_at2, 3 U133-A 1 1.00 1.00 -- -- AB029290 0.80 0.88 0.84 1

    232168_x_at2, 3 U133-B 63 1.00 0.77 -- -- AK023821 0.60 1.00 0.82 1

    214894_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    215222_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    241896_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    207358_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    208633_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    208634_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1553407_at2 U133Plus2 19 1.00 0.91 -- -- -- -- -- -- --

    232168_x_at2 U133Plus2 63 1.00 0.77 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTGCTGTGTG

    SOURCE GeneReport for Unigene cluster: Hs.580782

    Expression variation in blood from EXPOLDB for MACF1

    UniProtKB/Swiss-Prot: MACF1_HUMAN, Q9UPN3
    Tissue specificity: Ubiquitously expressed

    UniProtKB/Swiss-Prot: MACF4_HUMAN, Q96PK2
    Tissue specificity: Expressed in heart, lung, pituitary and placenta, not found in brain, kidney,
    liver, pancreas or skeletal muscle

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for MACF1 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    MACF11   -- microtubule-actin crosslinking factor 1 99.54(n)
    99.46(a)
    456778  XM_513340.2  XP_513340.2 
    mouse
    (Mus musculus)
    Macf11, 5 4 (57.40 cM)5
    microtubule-actin crosslinking factor 11, 5 84.3(n)1
    82.57(a)1
    114261  XM_884922.31  XP_890015.31 
     AF1507555  AI5513195  (see all 29)
    zebrafish
    (Danio rerio)
    LOC5620441   -- similar to Microtubule-actin cross-linking factor 1 55.94(n)
    51.21(a)
    562044  XM_001920059.1  XP_001920094.1 
    fruit fly
    (Drosophila melanogaster)
    shot1, 3 50C6--113
    microtubule-based process actin binding3
    short stop1
    25(a)3
    44.05(n)1
    32.02(a)1
    365421  NM_166019.11  NP_725339.11 
    worm
    (Caenorhabditis elegans)
    M116.53
    vab-101
    IV(8414779-8421194)3
    Variable ABnormal morphology1 48(a)3
    40.96(n)1
    25.47(a)1
    1730581  NM_001026684.11  NP_001021855.11 
    About this table        Species with no ortholog for MACF1

    ENSEMBL Gene Tree for MACF1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for MACF1 gene
    EVPL2  EVPLL2  PPL2  DST2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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    10/2053 NCBI SNPs in MACF1 are shown (see all 2053 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 491)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs5874041,2
    A,C,F,H,O39681093(+) TGGAAG/ACCATG 2 T/A mis113Minor allele frequency- A:0.36MN EU EA WA 1440
    rs15690531,2
    A,C,F,H,O39725409(-) AACAAG/AATTAA 2 -- ng313Minor allele frequency- A:0.47EA WA 298
    rs6685561,2
    A,C,F,H39686950(-) TCTGAC/GTATCT 2 S/T mis119Minor allele frequency- N:0.00MN EA NA EU WA 1836
    rs96591651,2
    A,C,F,H39317856(+) CCTAGC/TGTAAC 1 -- ng518Minor allele frequency- T:0.24EU EA WA 840
    rs7109151,2
    A,C,F,H39725332(-) GAATGC/TATTTA 2 -- ut31 ese34Minor allele frequency- T:0.17EU EA WA 380
    rs22961721,2
    C,F,H,O39608404(+) CTTCTA/GTGAGT 2 M/V mis1 ese313Minor allele frequency- G:0.13EA EU WA 1992
    rs100471951,2
    C,F,H39572274(+) TAAAGC/GACCTT 2 A/G mis1 int18Minor allele frequency- G:0.02EU EA WA 822
    --
    rs175707181,2
    C,F,H39574755(+) AGAAAA/CGACAG 2 K/T mis1 int1 trp311Minor allele frequency- C:0.01NA EU EA WA 968
    rs168260721,2
    C,F,H39571020(+) TTGCAC/TTACAG 2 T/I mis1 int1 ese312Minor allele frequency- T:0.01NA EU EA WA 1058
    rs120684231,2
    C,F,H39692089(+) CCATCA/GTCCGA 2 I/V mis1 ese38Minor allele frequency- G:0.01EU EA WA 840
    About this table

    HapMap Linkage Disequilibrium images for MACF1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 608271

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/31 PubMed articles for MACF1 gene (see all 31 ):
    (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, and/or H-InvDB)
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    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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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