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Aliases & Descriptions for MACF1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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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
Search outside databases for aliases for MACF1 genePrevious GC identifers: GC01P039467 GC01P038550 GC01P039010 GC01P038963 GC01P038960 GC01P039216
Summaries for MACF1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for MACF1 : The protein encoded by this gene belongs to the plakin family of cytoskeletal linker proteins. Thisprotein family forms bridges between different cytoskeletal elements through specialized modulardomains. The encoded protein is one of the largest size proteins identified in human cytoskeletalproteins. It has functional actin and microtubule binding domains, and it appears to stabilizeactin at sites where microtubules and microfilaments meet. It may function in microtubule dynamicsto facilitate actin-microtubule interactions at the cell periphery and to couple the microtubulenetwork to cellular junctions. Alternatively spliced transcript variants encoding distinctisoforms 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 filamentsto the N-terminal plectin repeats and microtubules to the C-terminus
Gene Wiki entry for MACF1
Genomic Location 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
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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 Proteins for MACF1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 )
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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 Q9ULG9Alternative 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 : Q8WXY1Alternative splicing : 5 isoforms : Q96PK2-1 Q9UPN3-1 Q9UPN3-2 Q9UPN3-3 Q9UPN3-4
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
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 Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for MACF1: Assays for MACF1:
Protein
Domains/ Families for MACF1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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 familySimilarity : Contains 1 actin-binding domainSimilarity : Contains 2 CH (calponin-homology) domainsSimilarity : Contains 2 EF-hand domainsSimilarity : Contains 1 SH3 domainSimilarity : Contains 37 spectrin repeats
UniProtKB/Swiss-Prot: MACF4_HUMAN, Q96PK2 Similarity : Belongs to the plakin or cytolinker familySimilarity : Contains 2 EF-hand domainsSimilarity : Contains 19 plectin repeatsSimilarity : Contains 32 spectrin repeats
Gene Function for MACF1
(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 .)
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               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                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 othercytoskeletal 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 filamentsto the N-terminal plectin repeats and microtubules to the C-terminus
4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Macf1) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for MACF1
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for MACF1 5/13 Interacting proteins for MACF1 (ENSP00000289893 3 Q9UPN3 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 13
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0007050 cell cycle arrest
IEA -- GO:0008150 biological_process
ND --
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Drugs & Compounds for MACF1 (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 )
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Browse Tocris compounds for MACF1
Transcripts 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 ,
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               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
Expression for MACF1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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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 Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TTGCTGTGTGSOURCE 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 for MACF1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for MACF1 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for MACF1 ENSEMBL Gene Tree for MACF1 Paralogs for MACF1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for MACF1 gene EVPL 2 EVPLL 2 PPL 2 DST 2
SNPs/Variants for MACF1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for MACF1 (up to first 250kb)
Disorders & Mutations for MACF1
(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 .)
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OMIM: 608271
Medical News for MACF1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for MACF1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/31 PubMed articles for MACF1 gene (see all 31
): MACF1 gene structure: a hybrid of plectin and dystrophin. (PubMed id 11845288) 1, 3, 4 Gong T.-W.L.... Lomax M.I. (2001) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) Global phosphoproteome analysis on human HepG2 hepatocytes using reversed-phase diagonal LC. (PubMed id 16097034) 3, 4 Gevaert K.... Vandekerckhove J. (2005) Molecular cloning of macrophin, a human homologue of Drosophila kakapo with a close structural similarity to plectin and dystrophin. (PubMed id 10529403) 2, 3 Okuda T....Hamaguchi M. (1999) Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure. (PubMed id 7635207) 2, 3 Byers T.J.... Kunkel L.M. (1995) Characterization of the microtubule binding domain of microtubule actin crosslinking factor (MACF): identification of a novel group of microtubule associated proteins. (PubMed id 11112700) 1, 3 Sun D....Liem R.K. (2001) 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, 3 Kakinuma T....Toh B.H. (2004) Molecular cloning and characterization of human trabeculin-alpha, a giant protein defining a new family of actin-binding proteins. (PubMed id 10559237) 1, 3 Sun Y.... Chen L.B. (1999) Microtubule actin crosslinking factor 1b: a novel plakin that localizes to the Golgi complex. (PubMed id 16076900) 1, 3 Lin C.M....Liem R.K. (2005) A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648) 4 Dephoure N.... Gygi S.P. (2008)
Search for MACF1
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Genome Databases showing MACF1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing MACF1
(According to HUGE )
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Specialized Databases showing MACF1 (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
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About This Section
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-- Services for MACF1 (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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Products for MACF1:
Recombinant Proteins (Acf7 ) Antibodies (Acf7 )
Search Tocris compounds for MACF1
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009