Human Gene MACF1 (ENST00000567887.5) Description and Page Index
  Description: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H3BQK9)
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##
Gencode Transcript: ENST00000567887.5
Gencode Gene: ENSG00000127603.27
Transcript (Including UTRs)
   Position: hg38 chr1:39,084,062-39,487,177 Size: 403,116 Total Exon Count: 101 Strand: +
Coding Region
   Position: hg38 chr1:39,084,219-39,485,794 Size: 401,576 Coding Exon Count: 101 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:39,084,062-39,487,177)mRNA (may differ from genome)Protein (7592 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGImyGene2PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: H3BQK9_HUMAN
DESCRIPTION: SubName: Full=Microtubule-actin cross-linking factor 1, isoforms 1/2/3/5;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

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

-  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
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.20157-0.250 Picture PostScript Text
3' UTR -337.501383-0.244 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
  InterPro Domains: Graphical view of domain structure
IPR001589 - Actinin_actin-bd_CS
IPR001715 - CH-domain
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd
IPR003108 - GAS2_dom
IPR001101 - Plectin_repeat
IPR018159 - Spectrin/alpha-actinin
IPR002017 - Spectrin_repeat

Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF02187 - Growth-Arrest-Specific Protein 2 Domain
PF00681 - Plectin repeat
PF00435 - Spectrin repeat

ModBase Predicted Comparative 3D Structure on H3BQK9
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005509 calcium ion binding
GO:0008017 microtubule binding

Cellular Component:
GO:0005856 cytoskeleton


-  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.
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.
AB007934 - Homo sapiens mRNA for KIAA0465 protein, partial cds.
AF317696 - Homo sapiens macrophin 1 isoform 4 (MACF1) mRNA, complete cds.
AK023406 - Homo sapiens cDNA FLJ13344 fis, clone OVARC1002050, highly similar to Homo sapiens mRNA for actin binding protein ABP620.
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.
AK304414 - Homo sapiens cDNA FLJ52838 complete cds, highly similar to Microtubule-actin crosslinking factor 1, isoforms 1/2/3/5.
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.
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).
AY527403 - Homo sapiens 10kDa eEF1A interacting protein mRNA, complete cds.
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: AF317696, H3BQK9, H3BQK9_HUMAN, uc057ezv.1
UCSC ID: uc057ezv.1
RefSeq Accession: NM_012090
Protein: H3BQK9

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.