Human Gene EPB41L1 (ENST00000338074.7_13) from GENCODE V47lift37
  Description: erythrocyte membrane protein band 4.1 like 1, transcript variant 1 (from RefSeq NM_012156.2)
Gencode Transcript: ENST00000338074.7_13
Gencode Gene: ENSG00000088367.23_18
Transcript (Including UTRs)
   Position: hg19 chr20:34,742,662-34,820,721 Size: 78,060 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr20:34,761,700-34,817,262 Size: 55,563 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 (chr20:34,742,662-34,820,721)mRNA (may differ from genome)Protein (881 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E41L1_HUMAN
DESCRIPTION: RecName: Full=Band 4.1-like protein 1; AltName: Full=Neuronal protein 4.1; Short=4.1N;
FUNCTION: May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases.
SUBUNIT: Interacts with AGAP2.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
TISSUE SPECIFICITY: Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal muscle.
DISEASE: Defects in EPB41L1 are the cause of mental retardation autosomal dominant type 11 (MRD11) [MIM:614257]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.
SIMILARITY: Contains 1 FERM domain.
SEQUENCE CAUTION: Sequence=BAA20796.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  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: EPB41L1
Diseases sorted by gene-association score: mental retardation, autosomal dominant 11* (1279), autosomal dominant non-syndromic intellectual disability* (94), enophthalmos (9), orbital disease (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 58.86 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 883.06 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 -83.50171-0.488 Picture PostScript Text
3' UTR -1091.903459-0.316 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

ModBase Predicted Comparative 3D Structure on Q9H4G0
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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    
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-  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:0030866 cortical actin cytoskeleton organization
GO:0031032 actomyosin structure organization

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  BC013885 - Homo sapiens erythrocyte membrane protein band 4.1-like 1, mRNA (cDNA clone MGC:11072 IMAGE:3688606), complete cds.
AK299817 - Homo sapiens cDNA FLJ61657 complete cds, highly similar to Band 4.1-like protein 1.
AK096848 - Homo sapiens cDNA FLJ39529 fis, clone PUAEN2004067, highly similar to Band 4.1-like protein 1.
AK126875 - Homo sapiens cDNA FLJ44927 fis, clone BRAMY3015086, highly similar to E4L1_HUMAN Band 4.1-like protein 1.
BC040259 - Homo sapiens erythrocyte membrane protein band 4.1-like 1, mRNA (cDNA clone MGC:34764 IMAGE:5195986), complete cds.
CR936825 - Homo sapiens mRNA; cDNA DKFZp686H17242 (from clone DKFZp686H17242).
AB002336 - Homo sapiens mRNA for KIAA0338 gene.
AY049789 - Homo sapiens erythrocyte membrane protein 4.1N mRNA, partial cds.
DQ891352 - Synthetic construct clone IMAGE:100003982; FLH171314.01X; RZPDo839H05100D erythrocyte membrane protein band 4.1-like 1 (EPB41L1) gene, encodes complete protein.
DQ894531 - Synthetic construct Homo sapiens clone IMAGE:100008991; FLH171310.01L; RZPDo839H0599D erythrocyte membrane protein band 4.1-like 1 (EPB41L1) gene, encodes complete protein.
EU832836 - Synthetic construct Homo sapiens clone HAIB:100067865; DKFZo008G1233 erythrocyte membrane protein band 4.1-like 1 protein (EPB41L1) gene, encodes complete protein.
GQ129232 - Synthetic construct Homo sapiens clone HAIB:100068527; DKFZo004G1234 erythrocyte membrane protein band 4.1-like 1 protein (EPB41L1) gene, partial cds.
AB385310 - Synthetic construct DNA, clone: pF1KA0338, Homo sapiens EPB41L1 gene for band 4.1-like protein 1, complete cds, without stop codon, in Flexi system.
CU691840 - Synthetic construct Homo sapiens gateway clone IMAGE:100017828 5' read EPB41L1 mRNA.
KJ904459 - Synthetic construct Homo sapiens clone ccsbBroadEn_13853 EPB41L1-like gene, encodes complete protein.
JD130549 - Sequence 111573 from Patent EP1572962.
JD438640 - Sequence 419664 from Patent EP1572962.
EU831995 - Synthetic construct Homo sapiens clone HAIB:100067024; DKFZo008H1223 erythrocyte membrane protein band 4.1-like 1 protein (EPB41L1) gene, encodes complete protein.
EU832088 - Synthetic construct Homo sapiens clone HAIB:100067117; DKFZo004H1224 erythrocyte membrane protein band 4.1-like 1 protein (EPB41L1) gene, encodes complete protein.
KJ891111 - Synthetic construct Homo sapiens clone ccsbBroadEn_00505 EPB41L1 gene, encodes complete protein.
BX537978 - Homo sapiens mRNA; cDNA DKFZp451F1711 (from clone DKFZp451F1711).
BC113899 - Homo sapiens erythrocyte membrane protein band 4.1-like 1, mRNA (cDNA clone IMAGE:40029524), partial cds.
BC131796 - Homo sapiens erythrocyte membrane protein band 4.1-like 1, mRNA (cDNA clone IMAGE:40029530), partial cds.
BC113858 - Homo sapiens erythrocyte membrane protein band 4.1-like 1, mRNA (cDNA clone IMAGE:40029528), partial cds.
JD060230 - Sequence 41254 from Patent EP1572962.
JD272665 - Sequence 253689 from Patent EP1572962.
JD127559 - Sequence 108583 from Patent EP1572962.
JD260047 - Sequence 241071 from Patent EP1572962.
JD292641 - Sequence 273665 from Patent EP1572962.
JD450183 - Sequence 431207 from Patent EP1572962.
JD454774 - Sequence 435798 from Patent EP1572962.
JD416365 - Sequence 397389 from Patent EP1572962.
JD559527 - Sequence 540551 from Patent EP1572962.
JD121632 - Sequence 102656 from Patent EP1572962.
JD097599 - Sequence 78623 from Patent EP1572962.
JD216312 - Sequence 197336 from Patent EP1572962.
JD434819 - Sequence 415843 from Patent EP1572962.
JD334322 - Sequence 315346 from Patent EP1572962.
JD117492 - Sequence 98516 from Patent EP1572962.
JD106566 - Sequence 87590 from Patent EP1572962.
JD231615 - Sequence 212639 from Patent EP1572962.
JD225722 - Sequence 206746 from Patent EP1572962.
JD135454 - Sequence 116478 from Patent EP1572962.
JD552423 - Sequence 533447 from Patent EP1572962.
JD408938 - Sequence 389962 from Patent EP1572962.
JD279837 - Sequence 260861 from Patent EP1572962.
JD205937 - Sequence 186961 from Patent EP1572962.
JD562764 - Sequence 543788 from Patent EP1572962.
JD325659 - Sequence 306683 from Patent EP1572962.
JD290529 - Sequence 271553 from Patent EP1572962.
JD360964 - Sequence 341988 from Patent EP1572962.
JD023469 - Sequence 4493 from Patent EP1572962.
JD201679 - Sequence 182703 from Patent EP1572962.
JD030076 - Sequence 11100 from Patent EP1572962.
JD350901 - Sequence 331925 from Patent EP1572962.
JD394193 - Sequence 375217 from Patent EP1572962.
JD107840 - Sequence 88864 from Patent EP1572962.
JD154908 - Sequence 135932 from Patent EP1572962.
JD123451 - Sequence 104475 from Patent EP1572962.
JD072552 - Sequence 53576 from Patent EP1572962.
JD231264 - Sequence 212288 from Patent EP1572962.
JD201120 - Sequence 182144 from Patent EP1572962.
JD497159 - Sequence 478183 from Patent EP1572962.
JD399659 - Sequence 380683 from Patent EP1572962.
JD528937 - Sequence 509961 from Patent EP1572962.
JD274398 - Sequence 255422 from Patent EP1572962.
JD304768 - Sequence 285792 from Patent EP1572962.
JD173021 - Sequence 154045 from Patent EP1572962.
JD281926 - Sequence 262950 from Patent EP1572962.
JD346820 - Sequence 327844 from Patent EP1572962.
JD515217 - Sequence 496241 from Patent EP1572962.
JD524989 - Sequence 506013 from Patent EP1572962.
JD299425 - Sequence 280449 from Patent EP1572962.
JD290316 - Sequence 271340 from Patent EP1572962.
JD290239 - Sequence 271263 from Patent EP1572962.
JD168047 - Sequence 149071 from Patent EP1572962.

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

Protein Q9H4G0 (Reactome details) participates in the following event(s):

R-HSA-416320 Trafficking of GluR1-containing AMPA receptors
R-HSA-6797553 Protein 4.1 binds CASK
R-HSA-6797568 NRXNs bind CASK:Protein 4.1
R-HSA-399719 Trafficking of AMPA receptors
R-HSA-6794361 Neurexins and neuroligins
R-HSA-399721 Glutamate binding, activation of AMPA receptors and synaptic plasticity
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112316 Neuronal System
R-HSA-112315 Transmission across Chemical Synapses

-  Other Names for This Gene
  Alternate Gene Symbols: E41L1_HUMAN, ENST00000338074.1, ENST00000338074.2, ENST00000338074.3, ENST00000338074.4, ENST00000338074.5, ENST00000338074.6, EPB41L1 , KIAA0338 , NM_012156, O15046, Q4VXM6, Q4VXM7, Q4VXM8, Q4VXN4, Q6ZT61, Q8IUU7, Q96CV5, Q96L65, Q9H4G0, uc317uxp.1, uc317uxp.2
UCSC ID: ENST00000338074.7_13
RefSeq Accession: NM_012156.2
Protein: Q9H4G0 (aka E41L1_HUMAN or E4L1_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.