Human Gene MACF1 (uc021olt.1) Description and Page Index
  Description: Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), mRNA.
RefSeq Summary (NM_012090): 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]. Sequence Note: This RefSeq encodes the Macf1a isoform of this gene (PMID: 16076900). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB029290.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145240 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr1:39,549,839-39,952,810 Size: 402,972 Total Exon Count: 93 Strand: +
Coding Region
   Position: hg19 chr1:39,549,891-39,951,466 Size: 401,576 Coding Exon Count: 93 

Page IndexSequence and LinksGenetic AssociationsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther Names
Model InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:39,549,839-39,952,810)mRNA (may differ from genome)Protein (5430 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MACF1
CDC HuGE Published Literature: MACF1
Positive Disease Associations: Lipoproteins, HDL
Related Studies:
  1. Lipoproteins, HDL
    , , . [PubMed 0]
  2. Lipoproteins, HDL
    , , . [PubMed 0]
  3. Lipoproteins, HDL
    , , . [PubMed 0]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.01 RPKM in Lung
Total median expression: 597.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.2052-0.292 Picture PostScript Text
3' UTR -333.801344-0.248 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF00435 - Spectrin repeat
PF02187 - Growth-Arrest-Specific Protein 2 Domain
PF13202 - EF hand
PF13499 - EF-hand domain pair
PF13833 - EF-hand domain pair

SCOP Domains:
46579 - Prefoldin
47266 - 4-helical cytokines
47473 - EF-hand
47576 - Calponin-homology domain, CH-domain
46966 - Spectrin repeat

ModBase Predicted Comparative 3D Structure on Q9UPN3-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Descriptions from all associated GenBank mRNAs
  AB029290 - Homo sapiens mRNA for actin binding protein ABP620, complete cds.
AB590581 - Synthetic construct DNA, clone: pFN21AE0600, Homo sapiens MACF1 gene for microtubule-actin crosslinking factor 1, without stop codon, in Flexi system.
AF141968 - Homo sapiens trabeculin-alpha mRNA, complete cds.
AB007934 - Homo sapiens mRNA for KIAA0465 protein, partial cds.
AF317696 - Homo sapiens macrophin 1 isoform 4 (MACF1) mRNA, complete cds.
AK304414 - Homo sapiens cDNA FLJ52838 complete cds, highly similar to Microtubule-actin crosslinking factor 1, isoforms 1/2/3/5.
AK299010 - Homo sapiens cDNA FLJ59962 complete cds, moderately similar to Microtubule-actin crosslinking factor 1(Actin cross-linking family 7).
JD135027 - Sequence 116051 from Patent EP1572962.
AK127519 - Homo sapiens cDNA FLJ45612 fis, clone BRTHA3025073, highly similar to Actin cross-linking family protein 7.
AB033077 - Homo sapiens mRNA for KIAA1251 protein, partial cds.
JD025740 - Sequence 6764 from Patent EP1572962.
JD034157 - Sequence 15181 from Patent EP1572962.
JD020441 - Sequence 1465 from Patent EP1572962.
JD028491 - Sequence 9515 from Patent EP1572962.
DQ586338 - Homo sapiens piRNA piR-53450, complete sequence.
AK023406 - Homo sapiens cDNA FLJ13344 fis, clone OVARC1002050, highly similar to Homo sapiens mRNA for actin binding protein ABP620.
AK023821 - Homo sapiens cDNA FLJ13759 fis, clone PLACE3000416, highly similar to Homo sapiens mRNA for actin binding protein ABP620.
BC071925 - Homo sapiens microtubule-actin crosslinking factor 1, mRNA (cDNA clone IMAGE:6497156), partial cds.
AK297854 - Homo sapiens cDNA FLJ58849 complete cds, highly similar to Microtubule-actin crosslinking factor 1, isoform 4.
BC007330 - Homo sapiens microtubule-actin crosslinking factor 1, mRNA (cDNA clone IMAGE:3625464), partial cds.
JD359893 - Sequence 340917 from Patent EP1572962.
JD235477 - Sequence 216501 from Patent EP1572962.
BC107866 - Homo sapiens microtubule-actin crosslinking factor 1, mRNA (cDNA clone IMAGE:4607069), partial cds.
AK023285 - Homo sapiens cDNA FLJ13223 fis, clone OVARC1000001, highly similar to Homo sapiens mRNA for actin binding protein ABP620.
BX647441 - Homo sapiens mRNA; cDNA DKFZp686F1899 (from clone DKFZp686F1899).
JD154860 - Sequence 135884 from Patent EP1572962.
JD409601 - Sequence 390625 from Patent EP1572962.
JD453529 - Sequence 434553 from Patent EP1572962.
JD545225 - Sequence 526249 from Patent EP1572962.
JD233737 - Sequence 214761 from Patent EP1572962.
JD364908 - Sequence 345932 from Patent EP1572962.
JD287280 - Sequence 268304 from Patent EP1572962.
JD362143 - Sequence 343167 from Patent EP1572962.
JD514537 - Sequence 495561 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ABP620, ACF7, CCDS435, KIAA0465, KIAA1251, NM_012090, NP_036222, Q9UPN3-2
UCSC ID: uc021olt.1
RefSeq Accession: NM_012090
Protein: Q9UPN3-2, splice isoform of Q9UPN3 CCDS: CCDS435.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: CCDS435.1
exon count: 93CDS single in 3' UTR: no RNA size: 17689
ORF size: 16293CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 27413.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.