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Entry version 179 (26 Feb 2020)
Sequence version 2 (11 Jul 2001)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-399719 Trafficking of AMPA receptors
R-HSA-6794361 Neurexins and neuroligins

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Band 4.1-like protein 1
Alternative name(s):
Neuronal protein 4.1
Short name:
4.1N
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EPB41L1
Synonyms:KIAA0338
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3378 EPB41L1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602879 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H4G0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
2036

MalaCards human disease database

More...
MalaCardsi
EPB41L1
MIMi614257 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000088367

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
178469 Autosomal dominant non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27811

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H4G0 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EPB41L1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
14916561

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002193951 – 881Band 4.1-like protein 1Add BLAST881

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H4G0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H4G0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9H4G0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H4G0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H4G0

PeptideAtlas

More...
PeptideAtlasi
Q9H4G0

PRoteomics IDEntifications database

More...
PRIDEi
Q9H4G0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80831 [Q9H4G0-1]
80832 [Q9H4G0-2]
80833 [Q9H4G0-3]
80834 [Q9H4G0-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H4G0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H4G0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000088367 Expressed in midbrain and 209 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H4G0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H4G0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA054104
HPA056817

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with AGAP2.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
P542742EBI-465536,EBI-710997

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108350, 103 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H4G0, 33 interactors

Molecular INTeraction database

More...
MINTi
Q9H4G0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000337168

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H4G0 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H4G0

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini97 – 378FERMPROSITE-ProRule annotationAdd BLAST282

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni483 – 541Spectrin--actin-bindingAdd BLAST59
Regioni746 – 881C-terminal (CTD)Add BLAST136

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3527 Eukaryota
ENOG410Y7NQ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158442

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H4G0

KEGG Orthology (KO)

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KOi
K06107

Identification of Orthologs from Complete Genome Data

More...
OMAi
TMENSVK

Database of Orthologous Groups

More...
OrthoDBi
193911at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H4G0

TreeFam database of animal gene trees

More...
TreeFami
TF351626

Family and domain databases

Conserved Domains Database

More...
CDDi
cd14473 FERM_B-lobe, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.80.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

Pfam protein domain database

More...
Pfami
View 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

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00935 BAND41
PR00661 ERMFAMILY

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00295 B41, 1 hit
SM01195 FA, 1 hit
SM01196 FERM_C, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47031 SSF47031, 1 hit
SSF54236 SSF54236, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00660 FERM_1, 1 hit
PS00661 FERM_2, 1 hit
PS50057 FERM_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DH22A0A0C4DH22_HUMAN
Band 4.1-like protein 1
EPB41L1
880Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTW6A0A1B0GTW6_HUMAN
Band 4.1-like protein 1
EPB41L1
1,595Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2K6H7C2K6_HUMAN
Band 4.1-like protein 1
EPB41L1
268Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
X6RC15X6RC15_HUMAN
Band 4.1-like protein 1
EPB41L1
197Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q4VXN5Q4VXN5_HUMAN
Band 4.1-like protein 1
EPB41L1
188Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q4VXN6Q4VXN6_HUMAN
Band 4.1-like protein 1
EPB41L1
168Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y482H0Y482_HUMAN
Band 4.1-like protein 1
EPB41L1
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q4VXN7Q4VXN7_HUMAN
Band 4.1-like protein 1
EPB41L1
114Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q4VXN0Q4VXN0_HUMAN
Band 4.1-like protein 1
EPB41L1
257Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q4VXN1Q4VXN1_HUMAN
Band 4.1-like protein 1
EPB41L1
199Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA20796 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB002336 mRNA Translation: BAA20796.1 Different initiation.
AK126875 mRNA Translation: BAC86733.1
AL121895 Genomic DNA No translation available.
BC013885 mRNA Translation: AAH13885.1
BC040259 mRNA Translation: AAH40259.1
AY049789 mRNA Translation: AAL15446.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13271.1 [Q9H4G0-1]
CCDS13272.1 [Q9H4G0-2]
CCDS58770.1 [Q9H4G0-4]

NCBI Reference Sequences

More...
RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000202028; ENSP00000202028; ENSG00000088367 [Q9H4G0-2]
ENST00000338074; ENSP00000337168; ENSG00000088367 [Q9H4G0-1]
ENST00000373950; ENSP00000363061; ENSG00000088367 [Q9H4G0-3]
ENST00000441639; ENSP00000399214; ENSG00000088367 [Q9H4G0-2]
ENST00000628415; ENSP00000487049; ENSG00000088367 [Q9H4G0-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2036

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2036

UCSC genome browser

More...
UCSCi
uc002xeu.4 human [Q9H4G0-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 No translation available.
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]

3D structure databases

SMRiQ9H4G0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108350, 103 interactors
IntActiQ9H4G0, 33 interactors
MINTiQ9H4G0
STRINGi9606.ENSP00000337168

PTM databases

iPTMnetiQ9H4G0
PhosphoSitePlusiQ9H4G0

Polymorphism and mutation databases

BioMutaiEPB41L1
DMDMi14916561

Proteomic databases

EPDiQ9H4G0
jPOSTiQ9H4G0
MassIVEiQ9H4G0
MaxQBiQ9H4G0
PaxDbiQ9H4G0
PeptideAtlasiQ9H4G0
PRIDEiQ9H4G0
ProteomicsDBi80831 [Q9H4G0-1]
80832 [Q9H4G0-2]
80833 [Q9H4G0-3]
80834 [Q9H4G0-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2036

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

Comparative Toxicogenomics Database

More...
CTDi
2036
DisGeNETi2036

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EPB41L1
HGNCiHGNC:3378 EPB41L1
HPAiHPA054104
HPA056817
MalaCardsiEPB41L1
MIMi602879 gene
614257 phenotype
neXtProtiNX_Q9H4G0
OpenTargetsiENSG00000088367
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
PharmGKBiPA27811

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3527 Eukaryota
ENOG410Y7NQ LUCA
GeneTreeiENSGT00940000158442
InParanoidiQ9H4G0
KOiK06107
OMAiTMENSVK
OrthoDBi193911at2759
PhylomeDBiQ9H4G0
TreeFamiTF351626

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
EPB41L1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EPB41L1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2036
PharosiQ9H4G0 Tbio

Protein Ontology

More...
PROi
PR:Q9H4G0
RNActiQ9H4G0 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000088367 Expressed in midbrain and 209 other tissues
ExpressionAtlasiQ9H4G0 baseline and differential
GenevisibleiQ9H4G0 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiE41L1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H4G0
Secondary accession number(s): O15046
, Q4VXM6, Q4VXM7, Q4VXM8, Q4VXN4, Q6ZT61, Q8IUU7, Q96CV5, Q96L65
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: July 11, 2001
Last modified: February 26, 2020
This is version 179 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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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