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Protein

Band 4.1-like protein 1

Gene

EPB41L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActin-binding

Enzyme and pathway databases

ReactomeiR-HSA-399719 Trafficking of AMPA receptors
R-HSA-6794361 Neurexins and neuroligins

Names & Taxonomyi

Protein namesi
Recommended name:
Band 4.1-like protein 1
Alternative name(s):
Neuronal protein 4.1
Short name:
4.1N
Gene namesi
Name:EPB41L1
Synonyms:KIAA0338
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000088367.20
HGNCiHGNC:3378 EPB41L1
MIMi602879 gene
neXtProtiNX_Q9H4G0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 11 (MRD11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:614257
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066600854P → S in MRD11; results in a 50% reduction of interaction of 4.1N protein to GRIA1 compared to wild-type. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi2036
MalaCardsiEPB41L1
MIMi614257 phenotype
OpenTargetsiENSG00000088367
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
PharmGKBiPA27811

Polymorphism and mutation databases

BioMutaiEPB41L1
DMDMi14916561

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002193951 – 881Band 4.1-like protein 1Add BLAST881

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei30PhosphothreonineBy similarity1
Modified residuei75PhosphoserineCombined sources1
Modified residuei79PhosphothreonineCombined sources1
Modified residuei343PhosphotyrosineBy similarity1
Modified residuei378PhosphoserineCombined sources1
Modified residuei430PhosphoserineCombined sources1
Modified residuei437PhosphoserineCombined sources1
Modified residuei461PhosphoserineCombined sources1
Modified residuei466PhosphoserineBy similarity1
Modified residuei475PhosphothreonineCombined sources1
Modified residuei510PhosphoserineCombined sources1
Modified residuei540PhosphoserineCombined sources1
Modified residuei541PhosphoserineCombined sources1
Modified residuei544PhosphoserineCombined sources1
Modified residuei546PhosphoserineCombined sources1
Modified residuei550PhosphothreonineCombined sources1
Modified residuei564PhosphoserineCombined sources1
Modified residuei578PhosphoserineCombined sources1
Modified residuei580PhosphothreonineBy similarity1
Modified residuei639PhosphoserineBy similarity1
Modified residuei648PhosphoserineCombined sources1
Modified residuei650PhosphoserineCombined sources1
Modified residuei667PhosphoserineBy similarity1
Modified residuei672PhosphoserineBy similarity1
Modified residuei678PhosphoserineCombined sources1
Modified residuei685PhosphoserineBy similarity1
Modified residuei686PhosphothreonineBy similarity1
Modified residuei722PhosphoserineBy similarity1
Modified residuei784PhosphoserineCombined sources1
Modified residuei870PhosphoserineBy similarity1
Isoform 2 (identifier: Q9H4G0-2)
Modified residuei1N-acetylmethionineCombined sources1
Isoform 3 (identifier: Q9H4G0-3)
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9H4G0
MaxQBiQ9H4G0
PaxDbiQ9H4G0
PeptideAtlasiQ9H4G0
PRIDEiQ9H4G0
ProteomicsDBi80831
80832 [Q9H4G0-2]
80833 [Q9H4G0-3]
80834 [Q9H4G0-4]

PTM databases

iPTMnetiQ9H4G0
PhosphoSitePlusiQ9H4G0

Expressioni

Tissue specificityi

Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal muscle.

Gene expression databases

BgeeiENSG00000088367
ExpressionAtlasiQ9H4G0 baseline and differential
GenevisibleiQ9H4G0 HS

Organism-specific databases

HPAiHPA054104
HPA056817

Interactioni

Subunit structurei

Interacts with AGAP2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TERF1P542742EBI-465536,EBI-710997

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108350, 95 interactors
IntActiQ9H4G0, 14 interactors
STRINGi9606.ENSP00000337168

Structurei

3D structure databases

ProteinModelPortaliQ9H4G0
SMRiQ9H4G0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini97 – 378FERMPROSITE-ProRule annotationAdd BLAST282

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni483 – 541Spectrin--actin-bindingAdd BLAST59
Regioni746 – 881C-terminal (CTD)Add BLAST136

Phylogenomic databases

eggNOGiKOG3527 Eukaryota
ENOG410Y7NQ LUCA
GeneTreeiENSGT00760000118823
HOVERGENiHBG007777
InParanoidiQ9H4G0
KOiK06107
OMAiSNEKHPS
OrthoDBiEOG091G00IL
PhylomeDBiQ9H4G0
TreeFamiTF351626

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
Gene3Di1.20.80.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR008379 Band_4.1_C
IPR019749 Band_41_domain
IPR000798 Ez/rad/moesin-like
IPR014847 FERM-adjacent
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR019747 FERM_CS
IPR000299 FERM_domain
IPR018979 FERM_N
IPR018980 FERM_PH-like_C
IPR011993 PH-like_dom_sf
IPR007477 SAB_dom
IPR029071 Ubiquitin-like_domsf
PfamiView protein in Pfam
PF05902 4_1_CTD, 1 hit
PF08736 FA, 1 hit
PF09380 FERM_C, 1 hit
PF00373 FERM_M, 1 hit
PF09379 FERM_N, 1 hit
PF04382 SAB, 1 hit
PRINTSiPR00935 BAND41
PR00661 ERMFAMILY
SMARTiView protein in SMART
SM00295 B41, 1 hit
SM01195 FA, 1 hit
SM01196 FERM_C, 1 hit
SUPFAMiSSF47031 SSF47031, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS00660 FERM_1, 1 hit
PS00661 FERM_2, 1 hit
PS50057 FERM_3, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H4G0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTTETGPDSE VKKAQEEAPQ QPEAAAAVTT PVTPAGHGHP EANSNEKHPS
60 70 80 90 100
QQDTRPAEQS LDMEEKDYSE ADGLSERTTP SKAQKSPQKI AKKYKSAICR
110 120 130 140 150
VTLLDASEYE CEVEKHGRGQ VLFDLVCEHL NLLEKDYFGL TFCDADSQKN
160 170 180 190 200
WLDPSKEIKK QIRSSPWNFA FTVKFYPPDP AQLTEDITRY YLCLQLRADI
210 220 230 240 250
ITGRLPCSFV THALLGSYAV QAELGDYDAE EHVGNYVSEL RFAPNQTREL
260 270 280 290 300
EERIMELHKT YRGMTPGEAE IHFLENAKKL SMYGVDLHHA KDSEGIDIML
310 320 330 340 350
GVCANGLLIY RDRLRINRFA WPKILKISYK RSNFYIKIRP GEYEQFESTI
360 370 380 390 400
GFKLPNHRSA KRLWKVCIEH HTFFRLVSPE PPPKGFLVMG SKFRYSGRTQ
410 420 430 440 450
AQTRQASALI DRPAPFFERS SSKRYTMSRS LDGAEFSRPA SVSENHDAGP
460 470 480 490 500
DGDKRDEDGE SGGQRSEAEE GEVRTPTKIK ELKPEQETTP RHKQEFLDKP
510 520 530 540 550
EDVLLKHQAS INELKRTLKE PNSKLIHRDR DWERERRLPS SPASPSPKGT
560 570 580 590 600
PEKANERAGL REGSEEKVKP PRPRAPESDT GDEDQDQERD TVFLKDNHLA
610 620 630 640 650
IERKCSSITV SSTSSLEAEV DFTVIGDYHG SAFEDFSRSL PELDRDKSDS
660 670 680 690 700
DTEGLLFSRD LNKGAPSQDD ESGGIEDSPD RGACSTPDMP QFEPVKTETM
710 720 730 740 750
TVSSLAIRKK IEPEAVLQTR VSAMDNTQQV DGSASVGREF IATTPSITTE
760 770 780 790 800
TISTTMENSL KSGKGAAAMI PGPQTVATEI RSLSPIIGKD VLTSTYGATA
810 820 830 840 850
ETLSTSTTTH VTKTVKGGFS ETRIEKRIII TGDEDVDQDQ ALALAIKEAK
860 870 880
LQHPDMLVTK AVVYRETDPS PEERDKKPQE S
Length:881
Mass (Da):98,503
Last modified:July 11, 2001 - v2
Checksum:iD923CF554EDB41D3
GO
Isoform 2 (identifier: Q9H4G0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-62: Missing.
     484-495: Missing.
     729-756: Missing.

Show »
Length:779
Mass (Da):87,645
Checksum:i144DEEB4E9174DF0
GO
Isoform 3 (identifier: Q9H4G0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-62: Missing.
     115-149: Missing.
     484-495: Missing.

Note: No experimental confirmation available.Combined sources
Show »
Length:772
Mass (Da):86,506
Checksum:i3FD79DBAEB979E87
GO
Isoform 4 (identifier: Q9H4G0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: MTTETGPDSE...SQQDTRPAEQ → MVFLGRINEVEPAKGLAESLAPTERSVK
     484-495: Missing.
     556-692: Missing.

Show »
Length:701
Mass (Da):78,831
Checksum:iA1B6C60B3ABF611A
GO

Sequence cautioni

The sequence BAA20796 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti728Missing in CAI95019 (PubMed:11780052).Curated1
Sequence conflicti728Missing in CAI95025 (PubMed:11780052).Curated1
Sequence conflicti728Missing in AAH40259 (PubMed:15489334).Curated1
Sequence conflicti728Missing in AAL15446 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066600854P → S in MRD11; results in a 50% reduction of interaction of 4.1N protein to GRIA1 compared to wild-type. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0239581 – 62Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST62
Alternative sequenceiVSP_0239591 – 59MTTET…RPAEQ → MVFLGRINEVEPAKGLAESL APTERSVK in isoform 4. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_023960115 – 149Missing in isoform 3. CuratedAdd BLAST35
Alternative sequenceiVSP_023961484 – 495Missing in isoform 2, isoform 3 and isoform 4. 2 PublicationsAdd BLAST12
Alternative sequenceiVSP_023962556 – 692Missing in isoform 4. 1 PublicationAdd BLAST137
Alternative sequenceiVSP_023963729 – 756Missing in isoform 2. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002336 mRNA Translation: BAA20796.1 Different initiation.
AK126875 mRNA Translation: BAC86733.1
AL121895 Genomic DNA Translation: CAI95018.1
AL121895 Genomic DNA Translation: CAI95019.1
AL121895 Genomic DNA Translation: CAI95023.1
AL121895 Genomic DNA Translation: CAI95024.1
AL121895 Genomic DNA Translation: CAI95025.1
AL121895 Genomic DNA Translation: CAI95027.1
BC013885 mRNA Translation: AAH13885.1
BC040259 mRNA Translation: AAH40259.1
AY049789 mRNA Translation: AAL15446.1
CCDSiCCDS13271.1 [Q9H4G0-1]
CCDS13272.1 [Q9H4G0-2]
CCDS58770.1 [Q9H4G0-4]
RefSeqiNP_001245258.1, NM_001258329.1
NP_001245259.1, NM_001258330.1 [Q9H4G0-4]
NP_001245260.1, NM_001258331.1 [Q9H4G0-2]
NP_036288.2, NM_012156.2 [Q9H4G0-1]
NP_818932.1, NM_177996.2 [Q9H4G0-2]
XP_016883205.1, XM_017027716.1
XP_016883206.1, XM_017027717.1
XP_016883208.1, XM_017027719.1 [Q9H4G0-4]
UniGeneiHs.437422

Genome annotation databases

EnsembliENST00000202028; ENSP00000202028; ENSG00000088367 [Q9H4G0-2]
ENST00000338074; ENSP00000337168; ENSG00000088367 [Q9H4G0-1]
ENST00000373950; ENSP00000363061; ENSG00000088367 [Q9H4G0-3]
ENST00000441639; ENSP00000399214; ENSG00000088367 [Q9H4G0-2]
ENST00000628415; ENSP00000487049; ENSG00000088367 [Q9H4G0-4]
GeneIDi2036
KEGGihsa:2036
UCSCiuc002xeu.4 human [Q9H4G0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiE41L1_HUMAN
AccessioniPrimary (citable) accession number: Q9H4G0
Secondary accession number(s): O15046
, Q4VXM6, Q4VXM7, Q4VXM8, Q4VXN4, Q6ZT61, Q8IUU7, Q96CV5, Q96L65
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: July 11, 2001
Last modified: June 20, 2018
This is version 164 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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