Human Gene MACF1 (ENST00000564288.6_7) from GENCODE V47lift37
  Description: microtubule actin crosslinking factor 1, transcript variant 2 (from RefSeq NM_001394062.1)
Gencode Transcript: ENST00000564288.6_7
Gencode Gene: ENSG00000127603.32_22
Transcript (Including UTRs)
   Position: hg19 chr1:39,670,367-39,952,810 Size: 282,444 Total Exon Count: 101 Strand: +
Coding Region
   Position: hg19 chr1:39,670,695-39,951,466 Size: 280,772 Coding Exon Count: 101 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:39,670,367-39,952,810)mRNA (may differ from genome)Protein (7555 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: H3BPE1_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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -113.20328-0.345 Picture PostScript Text
3' UTR -319.301344-0.238 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
PF00435 - Spectrin repeat
PF00681 - Plectin repeat
PF02187 - Growth-Arrest-Specific Protein 2 Domain
PF13202 - EF hand
PF13499 - EF-hand domain pair
PF13833 - EF-hand domain pair
PF17902 - SH3 domain
PF18373 - Spectrin like domain

SCOP Domains:
47220 - alpha-catenin/vinculin-like
109801 - Hypothetical protein D-63
47473 - EF-hand
46785 - "Winged helix" DNA-binding domain
47576 - Calponin-homology domain, CH-domain
47819 - HRDC-like
46966 - Spectrin repeat
52540 - P-loop containing nucleoside triphosphate hydrolases
75399 - Plakin repeat
143575 - GAS2 domain-like
58069 - Virus ectodomain

ModBase Predicted Comparative 3D Structure on H3BPE1
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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  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.
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.
BC045188 - Homo sapiens cDNA clone IMAGE:5296213, with apparent retained intron.
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).
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: ENST00000564288.1, ENST00000564288.2, ENST00000564288.3, ENST00000564288.4, ENST00000564288.5, H3BPE1, H3BPE1_HUMAN, MACF1 , NM_001394062, uc325szw.1, uc325szw.2
UCSC ID: ENST00000564288.6_7
RefSeq Accession: NM_001394062.1
Protein: H3BPE1

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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