Human Gene EPB41L4A (ENST00000261486.6_7) from GENCODE V47lift37
  Description: erythrocyte membrane protein band 4.1 like 4A, transcript variant 4 (from RefSeq NR_144931.2)
Gencode Transcript: ENST00000261486.6_7
Gencode Gene: ENSG00000129595.14_10
Transcript (Including UTRs)
   Position: hg19 chr5:111,498,316-111,754,974 Size: 256,659 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr5:111,500,687-111,754,736 Size: 254,050 Coding Exon Count: 23 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:111,498,316-111,754,974)mRNA (may differ from genome)Protein (686 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E41LA_HUMAN
DESCRIPTION: RecName: Full=Band 4.1-like protein 4A; AltName: Full=Protein NBL4;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity).
TISSUE SPECIFICITY: Expressed in many tissues. High levels of expression in brain, liver, thymus and peripheral blood leukocytes and low levels of expression in heart, kidney, testis and colon.
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


-  MalaCards Disease Associations
  MalaCards Gene Search: EPB41L4A
Diseases sorted by gene-association score: mixed germ cell cancer (7)

-  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: 4.55 RPKM in Vagina
Total median expression: 76.70 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 -112.90238-0.474 Picture PostScript Text
3' UTR -558.402371-0.236 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 Q9HCS5
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  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005200 structural constituent of cytoskeleton
GO:0008092 cytoskeletal protein binding

Biological Process:
GO:0008150 biological_process
GO:0031032 actomyosin structure organization

Cellular Component:
GO:0005575 cellular_component
GO:0005737 cytoplasm
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AK096057 - Homo sapiens cDNA FLJ38738 fis, clone KIDNE2011508, highly similar to Homo sapiens mRNA for hNBL4.
BC160044 - Synthetic construct Homo sapiens clone IMAGE:100063980, MGC:193159 erythrocyte membrane protein band 4.1 like 4A (EPB41L4A) mRNA, encodes complete protein.
AB030240 - Homo sapiens mRNA for hNBL4, complete cds.
BC114942 - Homo sapiens erythrocyte membrane protein band 4.1 like 4A, mRNA (cDNA clone IMAGE:40084554), partial cds.
BC114632 - Homo sapiens cDNA clone IMAGE:40084555.
BC031042 - Homo sapiens erythrocyte membrane protein band 4.1 like 4A, mRNA (cDNA clone IMAGE:5271362), complete cds.
JF432740 - Synthetic construct Homo sapiens clone IMAGE:100073984 erythrocyte membrane protein band 4.1 like 4A (EPB41L4A) gene, encodes complete protein.
KJ903052 - Synthetic construct Homo sapiens clone ccsbBroadEn_12446 EPB41L4A gene, encodes complete protein.
AL117425 - Homo sapiens mRNA; cDNA DKFZp566L203 (from clone DKFZp566L203).
BC015441 - Homo sapiens, clone IMAGE:4423867, mRNA.
AK021578 - Homo sapiens cDNA FLJ11516 fis, clone HEMBA1002328.
JD082136 - Sequence 63160 from Patent EP1572962.
AK123285 - Homo sapiens cDNA FLJ41291 fis, clone BRAMY2039287, highly similar to BAND 4.1-LIKE PROTEIN 4.

-  Other Names for This Gene
  Alternate Gene Symbols: A4FUI6, E41LA_HUMAN, ENST00000261486.1, ENST00000261486.2, ENST00000261486.3, ENST00000261486.4, ENST00000261486.5, EPB41L4, EPB41L4A , NR_144931, Q9HCS5, uc317gqm.1, uc317gqm.2
UCSC ID: ENST00000261486.6_7
RefSeq Accession: NM_022140.5
Protein: Q9HCS5 (aka E41LA_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.