MACF1 Gene
protein-coding GIFtS: 54
GCID: GC01P039546
|
|
microtubule-actin crosslinking factor 1
| |
Aliases
for MACF1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Microtubule-Actin Crosslinking Factor 11 2 | | 620 KDa Actin Binding Protein2 | | ACF71 2 3 5 | | OFC42 | | ABP6201 2 3 | | Macrophin 12 | | KIAA12511 3 5 | | Microtubule-Actin Cross-Linking Factor 12 | | MACF1 2 | | Trabeculin-Alpha1 | | KIAA04651 3 | | 620 KDa Actin-Binding Protein3 | | Actin Cross-Linking Family Protein 72 3 | | Macrophin-13 | | FLJ456121 | | Trabeculin-Alpha1 | | FLJ467761 | | |
Export aliases for MACF1 gene to outside databasesPrevious GC identifers: GC01P039467 GC01P038550 GC01P039010 GC01P038963 GC01P038960 GC01P039216 GC01P039319 GC01P037666 |
Summaries
for MACF1 gene(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:
The protein encoded by this gene belongs to the plakin family of cytoskeletal linker proteins. This protein familyforms bridges between different cytoskeletal elements through specialized modular domains. The encoded protein is oneof the largest size proteins identified in human cytoskeletal proteins. It has functional actin and microtubulebinding domains, and it appears to stabilize actin at sites where microtubules and microfilaments meet. It mayfunction in microtubule dynamics to facilitate actin-microtubule interactions at the cell periphery and to couple themicrotubule network to cellular junctions. Alternatively spliced transcript variants encoding distinct isoforms havebeen described. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: MACF1_HUMAN, Q9UPN3Function: Isoform 2 is a F-actin-binding protein which may play a role in cross-linking actin to other cytoskeletalproteins and also binds to microtubules. Plays an important role in ERBB2-dependent stabilization of microtubules atthe cell cortex. Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocationof AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane. Hasactin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics. May playrole in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through itsinteraction with GOLGA4. Plays a key role in wound healing and epidermal cell migration. Required for efficient upwardmigration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate MTdynamics and polarize hair follicle stem cells (By similarity)
Gene Wiki entry for MACF1
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_032977.9
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
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-p31MACF1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for MACF1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 acomplex 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 associateswith the microtubules (By similarity). Localizes to the tips of microtubules. APC controls its localization to thecell 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 genemodel prediction; Sequence=CAH73668.1; Type=Erroneous gene model prediction; Sequence=CAI16417.1; Type=Erroneous genemodel prediction; Sequence=CAI21814.1; Type=Erroneous gene model prediction;
Secondary accessions: B1ALC5 E9PJT0 O75053 Q5VW20 Q8WXY1 Q8WXY2 Q96PK2 Q9H540 Q9UKP0 Q9ULG9Alternative 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
Post-translational modifications:
Phosphorylated on serine residues in the C-terminal tail by GSK3B. Phosphorylation inhibits microtubule-binding andthis plays a critical role in bulge stem cell migration and skin wound repair. Wnt-signaling can repressphosphorylation (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UPN3
MACF1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_036222.3
ENSEMBL proteins: ENSP00000434859 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:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
MACF1 for ontologies About GeneDecksing
MACF1 Antibody Products:
Assay Products for MACF1: |
Protein
Domains /
Families
for MACF1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MACF1 for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry Q9UPN3ProtoNet 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, Q9UPN3Domain: The C-terminal tail is required for phosphorylation by GSK3B and for microtubule-binding (By similarity)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 GAR domainSimilarity: Contains 24 LRR (leucine-rich) repeatsSimilarity: Contains 11 plectin repeatsSimilarity: Contains 1 SH3 domainSimilarity: Contains 17 spectrin repeats |
Function
for MACF1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: MACF1_HUMAN, Q9UPN3Function: Isoform 2 is a F-actin-binding protein which may play a role in cross-linking actin to other cytoskeletalproteins and also binds to microtubules. Plays an important role in ERBB2-dependent stabilization of microtubules atthe cell cortex. Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocationof AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane. Hasactin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics. May playrole in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through itsinteraction with GOLGA4. Plays a key role in wound healing and epidermal cell migration. Required for efficient upwardmigration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate MTdynamics and polarize hair follicle stem cells (By similarity) Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
MACF1 for ontologies About GeneDecksing
Phenotypes:
2 GenomeRNAi human phenotypes for MACF1:
7 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Macf1):
MACF1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for MACF1: Macf1tm1Liem Macf1tm2.2Liem
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MACF1 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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Synthesis Service for MACF1 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MACF1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MACF1 |
|
Pathways & Interactions
for MACF1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 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)
5/53 Interacting proteins for MACF1 (Q9UPN31, 2, 3 ENSP000002898934) via UniProtKB, MINT, STRING, and/or I2D (see all 53)About this table
Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001707 | mesoderm formation |
IEA | -- | | GO:0006200 | ATP catabolic process |
ISS | -- | | GO:0006620 | posttranslational protein targeting to membrane |
IEA | -- | | GO:0006928 | cellular component movement |
IEA | -- | | GO:0007050 | cell cycle arrest |
IEA | -- |
MACF1 for ontologies About GeneDecksing
|
Drugs & Compounds
for MACF1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MACF1
Search CenterWatch for drugs/clinical trials and news about MACF1
|
Transcripts
for MACF1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MACF1 gene (2 alternative transcripts): NM_012090.4 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, AK29901018/36 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 36): ENST00000484793(uc010oir.2) 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 ENST00000528611
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MACF1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MACF1 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): MACF1 (NM_012090) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MACF1 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MACF1 |
Additional cDNA 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: BX107650 CD675344 AI017174 BX116150 AA047436 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
|
Expression
for MACF1 gene
(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
CGAP TAG: TTGCTGTGTG
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, Q9UPN3Tissue specificity: Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in cell lines NCI-H460, A-549 andHaCaT. Isoform 4 is expressed in heart, lung, pituitary and placenta, not found in brain, kidney, liver, pancreas orskeletal muscle
SABiosciences Expression via Pathway-Focused PCR Array including MACF1: | Cytoskeleton Regulators in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MACF1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MACF1 |
Orthologs
for MACF1 gene
(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 5/17 species (see all 17) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
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 |
-- |
-- |
27(a) |
1 ↔ 1 |
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
for MACF1 gene(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 DST2 PPL2 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 SPTBN4 SPTBN2 DMD CLMN
ACTN4 ACTN3 UTRN SYNE1 DST FLNB
MACF1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for MACF1
PGOHUM00000243976
|
Genomic Variants
for MACF1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MACF1 (39546988 - 39796988 bp, first 250kb of MACF1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for MACF1
2 CNVs: 48320 58389
2 Indels: 48319 11021 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MACF1 |
|
Disorders
/ Diseases
for MACF1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MACF1 for disorders About GeneDecksing
OMIM gene information: 608271
OMIM disorders: --
5  diseases for MACF1: About MalaCardsbullous pemphigoid hepatitis b hepatitis neuroblastoma
schizophrenia
1 disease from the University of Copenhagen DISEASES database for MACF1:Bullous pemphigoid Human Genome Epidemiology (HuGE) Navigator: MACF1 (7 documents)
Export disorders for MACF1 gene to outside databases
|
Publications
for MACF1 gene (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 58):
(articles sorted by number of sources associating them with MACF1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- MACF1 gene structure: a hybrid of plectin and dystrophin. (PubMed id 11845288)1, 2, 9 Gong T.-W.L.... Lomax M.I. (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, 2, 9 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, 2, 9 Sun Y.... Chen L.B. (1999)
- 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)
- 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)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
- Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
|
External Searches for MACF1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MACF1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MACF1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing MACF1 gene(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
|
| Name | Description |
| PharmGKB entry for MACF1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
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
|
Products
for MACF1 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for MACF1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MACF1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MACF1 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for MACF1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MACF1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MACF1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MACF1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MACF1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MACF1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MACF1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MACF1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MACF1 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MACF1 |
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| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MACF1 |
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