Human Gene EPB41L3 (uc010dkr.2)
  Description: Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr18:5,392,388-5,423,552 Size: 31,165 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr18:5,394,682-5,423,398 Size: 28,717 Coding Exon Count: 11 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:5,392,388-5,423,552)mRNA (may differ from genome)Protein (479 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): EPB41L3
CDC HuGE Published Literature: EPB41L3
Positive Disease Associations: Amyotrophic Lateral Sclerosis , Blood Pressure , Body Weights and Measures , Carotid Stenosis , Coronary Artery Disease , Immunoglobulin A , Iron
Related Studies:
  1. Amyotrophic Lateral Sclerosis
    Simon Cronin et al. Human molecular genetics 2008, A genome-wide association study of sporadic ALS in a homogenous Irish population., Human molecular genetics. [PubMed 18057069]
  2. Blood Pressure
    , , . [PubMed 0]
  3. Body Weights and Measures
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: EPB41L3
Diseases sorted by gene-association score: benign meningioma (17), bejel (12), yaws (12), meningioma, familial (9), spinal cord ependymoma (8), neurofibromatosis, type 2 (7), clear cell ependymoma (6), blood group incompatibility (5), benign ependymoma (5), meninges hemangiopericytoma (4), lung cancer (4), renal clear cell carcinoma (2)

-  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: 38.45 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 519.87 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 -31.70154-0.206 Picture PostScript Text
3' UTR -228.061096-0.208 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
IPR008379 - Band_4.1_C
IPR007477 - SAB

Pfam Domains:
PF04382 - SAB domain
PF05902 - 4.1 protein C-terminal domain (CTD)

ModBase Predicted Comparative 3D Structure on B7Z8M8
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 Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005198 structural molecule activity
GO:0008092 cytoskeletal protein binding

Biological Process:
GO:0001558 regulation of cell growth
GO:0007010 cytoskeleton organization
GO:0007016 cytoskeletal anchoring at plasma membrane
GO:0030866 cortical actin cytoskeleton organization

Cellular Component:
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005911 cell-cell junction


-  Descriptions from all associated GenBank mRNAs
  AB023204 - Homo sapiens KIAA0987 mRNA for KIAA0987 protein.
AK128531 - Homo sapiens cDNA FLJ46689 fis, clone TRACH3012106, highly similar to Band 4.1-like protein 3.
BC008377 - Homo sapiens erythrocyte membrane protein band 4.1-like 3, mRNA (cDNA clone IMAGE:4044866), partial cds.
AF069072 - Homo sapiens putative lung tumor suppressor (DAL1) mRNA, complete cds.
AK297406 - Homo sapiens cDNA FLJ58675 complete cds, highly similar to Band 4.1-like protein 3.
BC006141 - Homo sapiens erythrocyte membrane protein band 4.1-like 3, mRNA (cDNA clone MGC:13087 IMAGE:3936453), complete cds.
AK292583 - Homo sapiens cDNA FLJ77757 complete cds.
AK090875 - Homo sapiens cDNA FLJ33556 fis, clone BRAMY2009394.
AK094952 - Homo sapiens cDNA FLJ37633 fis, clone BRCOC2017652, highly similar to Band 4.1-like protein 3.
AL832598 - Homo sapiens mRNA; cDNA DKFZp451B0417 (from clone DKFZp451B0417).
AF515797 - Homo sapiens HSF protein (EPB41L3) mRNA, partial cds.
JD374782 - Sequence 355806 from Patent EP1572962.
JD490875 - Sequence 471899 from Patent EP1572962.
AK294690 - Homo sapiens cDNA FLJ53317 complete cds, highly similar to Band 4.1-like protein 3.
AK295453 - Homo sapiens cDNA FLJ59529 complete cds, highly similar to Band 4.1-like protein 3.
AK303679 - Homo sapiens cDNA FLJ56196 complete cds, highly similar to Band 4.1-like protein 3.
JD065487 - Sequence 46511 from Patent EP1572962.
AK294610 - Homo sapiens cDNA FLJ54069 complete cds, highly similar to Band 4.1-like protein 3.
KJ902290 - Synthetic construct Homo sapiens clone ccsbBroadEn_11684 EPB41L3 gene, encodes complete protein.
AB385414 - Synthetic construct DNA, clone: pF1KA0987, Homo sapiens EPB41L3 gene for band 4.1-like protein 3, complete cds, without stop codon, in Flexi system.
JD084243 - Sequence 65267 from Patent EP1572962.
AK307751 - Homo sapiens cDNA, FLJ97699.
JD115594 - Sequence 96618 from Patent EP1572962.
JD040786 - Sequence 21810 from Patent EP1572962.
JD353396 - Sequence 334420 from Patent EP1572962.
JD052483 - Sequence 33507 from Patent EP1572962.
JD047309 - Sequence 28333 from Patent EP1572962.
JD513130 - Sequence 494154 from Patent EP1572962.
JD036775 - Sequence 17799 from Patent EP1572962.
JD081266 - Sequence 62290 from Patent EP1572962.
JD211803 - Sequence 192827 from Patent EP1572962.
JD217834 - Sequence 198858 from Patent EP1572962.
JD485668 - Sequence 466692 from Patent EP1572962.
JD077539 - Sequence 58563 from Patent EP1572962.
JD473050 - Sequence 454074 from Patent EP1572962.
JD106993 - Sequence 88017 from Patent EP1572962.
JD535263 - Sequence 516287 from Patent EP1572962.
AK314438 - Homo sapiens cDNA, FLJ95236, highly similar to Homo sapiens differentially expressed in adenocarcinoma of the lung, mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04530 - Tight junction

-  Other Names for This Gene
  Alternate Gene Symbols: AK303679, B7Z8M8, B7Z8M8_HUMAN, NM_012307, NP_036439
UCSC ID: uc010dkr.2
RefSeq Accession: NM_012307
Protein: B7Z8M8

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK303679.1
exon count: 12CDS single in 3' UTR: no RNA size: 1685
ORF size: 1440CDS single in intron: no Alignment % ID: 99.82
txCdsPredict score: 3080.00frame 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
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.