Human Gene EPB41L5 (ENST00000263713.10_7) from GENCODE V47lift37
  Description: erythrocyte membrane protein band 4.1 like 5, transcript variant 1 (from RefSeq NM_020909.4)
Gencode Transcript: ENST00000263713.10_7
Gencode Gene: ENSG00000115109.14_10
Transcript (Including UTRs)
   Position: hg19 chr2:120,770,653-120,936,695 Size: 166,043 Total Exon Count: 25 Strand: +
Coding Region
   Position: hg19 chr2:120,776,661-120,932,483 Size: 155,823 Coding Exon Count: 24 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:120,770,653-120,936,695)mRNA (may differ from genome)Protein (733 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E41L5_HUMAN
DESCRIPTION: RecName: Full=Band 4.1-like protein 5;
FUNCTION: May contribute to the correct positioning of tight junctions during the establishment of polarity in epithelial cells.
SUBUNIT: Interacts with MPP5, CRB2 and CRB3.
SUBCELLULAR LOCATION: Cytoplasm. Cell junction, adherens junction. Note=Associated with the plasma membrane. Colocalizes with CTNNB1, an adherens junction marker (By similarity).
DOMAIN: The FERM domain binds to CRB1.
SIMILARITY: Contains 1 FERM domain.

-  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: 13.31 RPKM in Brain - Cerebellum
Total median expression: 244.06 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 -65.50142-0.461 Picture PostScript Text
3' UTR -1257.304212-0.299 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
IPR019749 - Band_41_domain
IPR019750 - Band_41_fam
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

Pfam Domains:
PF00373 - FERM central domain
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

ModBase Predicted Comparative 3D Structure on Q9HCM4
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 Details  
Gene SorterGene Sorter Gene Sorter  
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005200 structural constituent of cytoskeleton
GO:0008092 cytoskeletal protein binding
GO:0019904 protein domain specific binding

Biological Process:
GO:0000904 cell morphogenesis involved in differentiation
GO:0001701 in utero embryonic development
GO:0001756 somitogenesis
GO:0001837 epithelial to mesenchymal transition
GO:0001839 neural plate morphogenesis
GO:0001954 positive regulation of cell-matrix adhesion
GO:0003382 epithelial cell morphogenesis
GO:0003383 apical constriction
GO:0006931 substrate-dependent cell migration, cell attachment to substrate
GO:0007398 ectoderm development
GO:0007492 endoderm development
GO:0007498 mesoderm development
GO:0007509 mesoderm migration involved in gastrulation
GO:0009826 unidimensional cell growth
GO:0010608 posttranscriptional regulation of gene expression
GO:0010634 positive regulation of epithelial cell migration
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0022408 negative regulation of cell-cell adhesion
GO:0030036 actin cytoskeleton organization
GO:0031032 actomyosin structure organization
GO:0032091 negative regulation of protein binding
GO:0032092 positive regulation of protein binding
GO:0032525 somite rostral/caudal axis specification
GO:0048318 axial mesoderm development
GO:0048319 axial mesoderm morphogenesis
GO:0048339 paraxial mesoderm development
GO:0048617 embryonic foregut morphogenesis
GO:0051894 positive regulation of focal adhesion assembly
GO:0070201 regulation of establishment of protein localization
GO:0070986 left/right axis specification
GO:0071560 cellular response to transforming growth factor beta stimulus

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0005925 focal adhesion
GO:0030054 cell junction
GO:0031252 cell leading edge
GO:0032587 ruffle membrane


-  Descriptions from all associated GenBank mRNAs
  KJ894444 - Synthetic construct Homo sapiens clone ccsbBroadEn_03838 EPB41L5 gene, encodes complete protein.
LF383636 - JP 2014500723-A/191139: Polycomb-Associated Non-Coding RNAs.
AK023019 - Homo sapiens cDNA FLJ12957 fis, clone NT2RP2005531, weakly similar to PROTEIN 4.1.
BC054508 - Homo sapiens erythrocyte membrane protein band 4.1 like 5, mRNA (cDNA clone MGC:60194 IMAGE:5502663), complete cds.
AK290895 - Homo sapiens cDNA FLJ76793 complete cds, highly similar to Homo sapiens erythrocyte membrane protein band 4.1 like 5, mRNA.
BC032822 - Homo sapiens erythrocyte membrane protein band 4.1 like 5, mRNA (cDNA clone MGC:26029 IMAGE:4827274), complete cds.
EU832222 - Synthetic construct Homo sapiens clone HAIB:100067251; DKFZo004D0726 erythrocyte membrane protein band 4.1 like 5 protein (EPB41L5) gene, encodes complete protein.
EU832129 - Synthetic construct Homo sapiens clone HAIB:100067158; DKFZo008D0725 erythrocyte membrane protein band 4.1 like 5 protein (EPB41L5) gene, encodes complete protein.
AB046768 - Homo sapiens mRNA for KIAA1548 protein, partial cds.
MA619213 - JP 2018138019-A/191139: Polycomb-Associated Non-Coding RNAs.
JD458340 - Sequence 439364 from Patent EP1572962.
CU689550 - Synthetic construct Homo sapiens gateway clone IMAGE:100019713 5' read EPB41L5 mRNA.
LF319270 - JP 2014500723-A/126773: Polycomb-Associated Non-Coding RNAs.
LF319269 - JP 2014500723-A/126772: Polycomb-Associated Non-Coding RNAs.
MA554847 - JP 2018138019-A/126773: Polycomb-Associated Non-Coding RNAs.
MA554846 - JP 2018138019-A/126772: Polycomb-Associated Non-Coding RNAs.
LF319268 - JP 2014500723-A/126771: Polycomb-Associated Non-Coding RNAs.
LF319262 - JP 2014500723-A/126765: Polycomb-Associated Non-Coding RNAs.
AK304831 - Homo sapiens cDNA FLJ52267 complete cds, highly similar to Band 4.1-like protein 5.
AK307458 - Homo sapiens cDNA, FLJ97406.
LF319260 - JP 2014500723-A/126763: Polycomb-Associated Non-Coding RNAs.
JD136055 - Sequence 117079 from Patent EP1572962.
JD225310 - Sequence 206334 from Patent EP1572962.
JD240333 - Sequence 221357 from Patent EP1572962.
JD297093 - Sequence 278117 from Patent EP1572962.
JD270256 - Sequence 251280 from Patent EP1572962.
JD305649 - Sequence 286673 from Patent EP1572962.
JD219124 - Sequence 200148 from Patent EP1572962.
JD168508 - Sequence 149532 from Patent EP1572962.
JD507034 - Sequence 488058 from Patent EP1572962.
JD299787 - Sequence 280811 from Patent EP1572962.
JD366037 - Sequence 347061 from Patent EP1572962.
JD288844 - Sequence 269868 from Patent EP1572962.
JD515092 - Sequence 496116 from Patent EP1572962.
JD106808 - Sequence 87832 from Patent EP1572962.
JD044685 - Sequence 25709 from Patent EP1572962.
JD074477 - Sequence 55501 from Patent EP1572962.
LF319259 - JP 2014500723-A/126762: Polycomb-Associated Non-Coding RNAs.
LF319258 - JP 2014500723-A/126761: Polycomb-Associated Non-Coding RNAs.
JD022326 - Sequence 3350 from Patent EP1572962.
JD033002 - Sequence 14026 from Patent EP1572962.
MA554845 - JP 2018138019-A/126771: Polycomb-Associated Non-Coding RNAs.
MA554839 - JP 2018138019-A/126765: Polycomb-Associated Non-Coding RNAs.
MA554837 - JP 2018138019-A/126763: Polycomb-Associated Non-Coding RNAs.
MA554836 - JP 2018138019-A/126762: Polycomb-Associated Non-Coding RNAs.
MA554835 - JP 2018138019-A/126761: Polycomb-Associated Non-Coding RNAs.

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

Protein Q9HCM4 (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: E41L5_HUMAN, ENST00000263713.1, ENST00000263713.2, ENST00000263713.3, ENST00000263713.4, ENST00000263713.5, ENST00000263713.6, ENST00000263713.7, ENST00000263713.8, ENST00000263713.9, KIAA1548, NM_020909, Q7Z5S1, Q8IZ12, Q9H975, Q9HCM4, uc317hlx.1, uc317hlx.2
UCSC ID: ENST00000263713.10_7
RefSeq Accession: NM_020909.4
Protein: Q9HCM4 (aka E41L5_HUMAN or E4L5_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.