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Protein

Band 4.1-like protein 1

Gene

EPB41L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000088367-MONOMER.
ReactomeiR-HSA-399719. Trafficking of AMPA receptors.
R-HSA-6794361. Interactions of neurexins and neuroligins at synapses.

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

HGNCiHGNC:3378. EPB41L1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.

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

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL

Protein-protein interaction databases

BioGridi108350. 53 interactors.
IntActiQ9H4G0. 11 interactors.
MINTiMINT-5005633.
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

Sequence similaritiesi

Contains 1 FERM domain.PROSITE-ProRule annotation

Phylogenomic databases

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

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR008379. Band_4.1_C.
IPR019749. Band_41_domain.
IPR000798. Ez/rad/moesin-like.
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_dom-like.
IPR007477. SAB_dom.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamiPF05902. 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.
[Graphical view]
PRINTSiPR00935. BAND41.
PR00661. ERMFAMILY.
SMARTiSM00295. B41. 1 hit.
SM01195. FA. 1 hit.
SM01196. FERM_C. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS00660. FERM_1. 1 hit.
PS00661. FERM_2. 1 hit.
PS50057. FERM_3. 1 hit.
[Graphical view]

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9H4G0.
SMRiQ9H4G0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108350. 53 interactors.
IntActiQ9H4G0. 11 interactors.
MINTiMINT-5005633.
STRINGi9606.ENSP00000337168.

PTM databases

iPTMnetiQ9H4G0.
PhosphoSitePlusiQ9H4G0.

Polymorphism and mutation databases

BioMutaiEPB41L1.
DMDMi14916561.

Proteomic databases

EPDiQ9H4G0.
MaxQBiQ9H4G0.
PaxDbiQ9H4G0.
PeptideAtlasiQ9H4G0.
PRIDEiQ9H4G0.

Protocols and materials databases

DNASUi2036.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi2036.
DisGeNETi2036.
GeneCardsiEPB41L1.
HGNCiHGNC:3378. EPB41L1.
HPAiHPA054104.
HPA056817.
MalaCardsiEPB41L1.
MIMi602879. gene.
614257. phenotype.
neXtProtiNX_Q9H4G0.
OpenTargetsiENSG00000088367.
Orphaneti178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBiPA27811.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000088367-MONOMER.
ReactomeiR-HSA-399719. Trafficking of AMPA receptors.
R-HSA-6794361. Interactions of neurexins and neuroligins at synapses.

Miscellaneous databases

ChiTaRSiEPB41L1. human.
GeneWikiiEPB41L1.
GenomeRNAii2036.
PROiQ9H4G0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000088367.
ExpressionAtlasiQ9H4G0. baseline and differential.
GenevisibleiQ9H4G0. HS.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR008379. Band_4.1_C.
IPR019749. Band_41_domain.
IPR000798. Ez/rad/moesin-like.
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_dom-like.
IPR007477. SAB_dom.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamiPF05902. 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.
[Graphical view]
PRINTSiPR00935. BAND41.
PR00661. ERMFAMILY.
SMARTiSM00295. B41. 1 hit.
SM01195. FA. 1 hit.
SM01196. FERM_C. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS00660. FERM_1. 1 hit.
PS00661. FERM_2. 1 hit.
PS50057. FERM_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiE41L1_HUMAN
AccessioniPrimary (citable) accession number: Q9H4G0
Secondary accession number(s): O15046
, Q4VXM6, Q4VXM7, Q4VXM8, Q4VXN4, Q6ZT61, Q8IUU7, Q96CV5, Q96L65
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: July 11, 2001
Last modified: November 2, 2016
This is version 151 of the entry and version 2 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.