Human Gene EPB41L3 (ENST00000341928.7_12) from GENCODE V47lift37
  Description: erythrocyte membrane protein band 4.1 like 3, transcript variant 1 (from RefSeq NM_012307.5)
Gencode Transcript: ENST00000341928.7_12
Gencode Gene: ENSG00000082397.18_19
Transcript (Including UTRs)
   Position: hg19 chr18:5,392,385-5,543,996 Size: 151,612 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr18:5,394,682-5,489,182 Size: 94,501 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:5,392,385-5,543,996)mRNA (may differ from genome)Protein (1087 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E41L3_HUMAN
DESCRIPTION: RecName: Full=Band 4.1-like protein 3; AltName: Full=4.1B; AltName: Full=Differentially expressed in adenocarcinoma of the lung protein 1; Short=DAL-1;
FUNCTION: Critical growth regulator in the pathogenesis of meningiomas.
SUBUNIT: Interacts with CADM1.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity).
TISSUE SPECIFICITY: Expressed at high levels in brain, with lower levels in kidney, intestine, and testis.
SIMILARITY: Contains 1 FERM domain.
SEQUENCE CAUTION: Sequence=AAC79806.1; Type=Frameshift; Positions=29, 59; Sequence=BAA76831.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/EPB41L3ID40458ch18p11.html";

-  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


-  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 -35.2096-0.367 Picture PostScript Text
3' UTR -208.801099-0.190 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
IPR019749 - Band_41_domain
IPR019750 - Band_41_fam
IPR021187 - Band_41_protein
IPR000798 - Ez/rad/moesin
IPR014847 - FERM-adjacent
IPR014352 - FERM/acyl-CoA-bd_prot_3-hlx
IPR019748 - FERM_central
IPR019747 - FERM_CS
IPR000299 - FERM_domain
IPR018979 - FERM_N
IPR018980 - FERM_PH-like_C
IPR011993 - PH_like_dom
IPR007477 - SAB

Pfam Domains:
PF00373 - FERM central domain
PF04382 - SAB domain
PF05902 - 4.1 protein C-terminal domain (CTD)
PF08736 - FERM adjacent (FA)
PF09379 - FERM N-terminal domain
PF09380 - FERM C-terminal PH-like domain

SCOP Domains:
47031 - Second domain of FERM
50729 - PH domain-like
54236 - Ubiquitin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2HE7 - X-ray MuPIT 3BIN - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y2J2
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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:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding

Biological Process:
GO:0001558 regulation of cell growth
GO:0002175 protein localization to paranode region of axon
GO:0006915 apoptotic process
GO:0007010 cytoskeleton organization
GO:0007016 cytoskeletal anchoring at plasma membrane
GO:0008150 biological_process
GO:0008360 regulation of cell shape
GO:0030865 cortical cytoskeleton organization
GO:0030866 cortical actin cytoskeleton organization
GO:0030913 paranodal junction assembly
GO:0031032 actomyosin structure organization
GO:0043217 myelin maintenance
GO:0048812 neuron projection morphogenesis
GO:0071205 protein localization to juxtaparanode region of axon
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0030054 cell junction
GO:0030673 axolemma
GO:0033270 paranode region of axon
GO:0044224 juxtaparanode region of axon


-  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.
AK307904 - Homo sapiens cDNA, FLJ97852.
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.
CU675269 - Synthetic construct Homo sapiens gateway clone IMAGE:100023472 5' read EPB41L3 mRNA.
KJ902289 - Synthetic construct Homo sapiens clone ccsbBroadEn_11683 EPB41L3 gene, encodes complete protein.
JD258704 - Sequence 239728 from Patent EP1572962.
JD328665 - Sequence 309689 from Patent EP1572962.
JD023043 - Sequence 4067 from Patent EP1572962.
JD029713 - Sequence 10737 from Patent EP1572962.
JD459297 - Sequence 440321 from Patent EP1572962.
JD118356 - Sequence 99380 from Patent EP1572962.
JD310291 - Sequence 291315 from Patent EP1572962.
JD406107 - Sequence 387131 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y2J2 (Reactome details) participates in the following event(s):

R-HSA-6797553 Protein 4.1 binds CASK
R-HSA-6797568 NRXNs bind CASK:Protein 4.1
R-HSA-6794361 Neurexins and neuroligins
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z4I5, DAL1 , E41L3_HUMAN, ENST00000341928.1, ENST00000341928.2, ENST00000341928.3, ENST00000341928.4, ENST00000341928.5, ENST00000341928.6, EPB41L3 , F5GX05, KIAA0987 , NM_012307, O95713, Q9BRP5, Q9Y2J2, uc317wei.1, uc317wei.2
UCSC ID: ENST00000341928.7_12
RefSeq Accession: NM_012307.5
Protein: Q9Y2J2 (aka E41L3_HUMAN or E4L3_HUMAN)

-  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.