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Entry version 188 (16 Oct 2019)
Sequence version 2 (05 Dec 2001)
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Protein

Band 4.1-like protein 3

Gene

EPB41L3

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

Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5.4 Publications

<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
Biological processApoptosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6794361 Neurexins and neuroligins

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9Y2J2

<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_and_taxonomy_section">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 3
Alternative name(s):
4.1B
Differentially expressed in adenocarcinoma of the lung protein 1
Short name:
DAL-1
Cleaved into the following chain:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:EPB41L3
Synonyms:DAL1, KIAA0987
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 18

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3380 EPB41L3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605331 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y2J2

<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

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane

<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

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNET

More...
DisGeNETi
23136

Open Targets

More...
OpenTargetsi
ENSG00000082397

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27813

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y2J2

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EPB41L3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
17433099

<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_00002193991 – 1087Band 4.1-like protein 3Add BLAST1087
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved; alternateCombined sources
ChainiPRO_00004231942 – 1087Band 4.1-like protein 3, N-terminally processedAdd BLAST1086

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 residuei1N-acetylmethionineCombined sources1
Modified residuei2N-acetylthreonine; in Band 4.1-like protein 3, N-terminally processedCombined sources1
Modified residuei88PhosphoserineBy similarity1
Modified residuei420PhosphoserineCombined sources1
Modified residuei443PhosphoserineBy similarity1
Modified residuei460PhosphoserineCombined sources1
Modified residuei469PhosphothreonineCombined sources1
Modified residuei492PhosphothreonineBy similarity1
Modified residuei706PhosphothreonineBy similarity1
Modified residuei708PhosphoserineBy similarity1
Modified residuei960PhosphoserineBy similarity1
Modified residuei962PhosphoserineCombined sources1
Modified residuei1081PhosphothreonineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y2J2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y2J2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9Y2J2

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

More...
PaxDbi
Q9Y2J2

PeptideAtlas

More...
PeptideAtlasi
Q9Y2J2

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y2J2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
24274
85811 [Q9Y2J2-1]
85812 [Q9Y2J2-2]
85813 [Q9Y2J2-3]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1025

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y2J2

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

More...
PhosphoSitePlusi
Q9Y2J2

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9Y2J2

<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

Expressed at high levels in brain, with lower levels in kidney, intestine, and testis. Detected in lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000082397 Expressed in 230 organ(s), highest expression level in substantia nigra

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y2J2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y2J2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA028605

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via FERM domain) with CADM1.

Interacts with PRMT3, PRMT5 and PRMT6.

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%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
TCF4P158843EBI-10326138,EBI-533224

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116753, 109 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9Y2J2

Database of interacting proteins

More...
DIPi
DIP-17035N

Protein interaction database and analysis system

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IntActi
Q9Y2J2, 102 interactors

Molecular INTeraction database

More...
MINTi
Q9Y2J2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000343158

<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

Secondary structure

11087
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q9Y2J2

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9Y2J2

<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_and_domains_section">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>Domaini110 – 391FERMPROSITE-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>Regioni394 – 513HydrophilicAdd BLAST120
Regioni514 – 860Spectrin--actin-bindingSequence analysisAdd BLAST347
Regioni861 – 1083C-terminal (CTD)Add BLAST223

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3527 Eukaryota
ENOG410Y7NQ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157047

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000228840

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y2J2

KEGG Orthology (KO)

More...
KOi
K06107

Identification of Orthologs from Complete Genome Data

More...
OMAi
TSHSWAQ

Database of Orthologous Groups

More...
OrthoDBi
193911at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y2J2

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
IPR030691 Band4.1-L3
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

The PANTHER Classification System

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PANTHERi
PTHR23280:SF20 PTHR23280:SF20, 1 hit

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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 21 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y2J2-1) [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
MTTESGSDSE SKPDQEAEPQ EAAGAQGRAG APVPEPPKEE QQQALEQFAA
60 70 80 90 100
AAAHSTPVRR EVTDKEQEFA ARAAKQLEYQ QLEDDKLSQK SSSSKLSRSP
110 120 130 140 150
LKIVKKPKSM QCKVILLDGS EYTCDVEKRS RGQVLFDKVC EHLNLLEKDY
160 170 180 190 200
FGLTYRDAEN QKNWLDPAKE IKKQVRSGAW HFSFNVKFYP PDPAQLSEDI
210 220 230 240 250
TRYYLCLQLR DDIVSGRLPC SFVTLALLGS YTVQSELGDY DPDECGSDYI
260 270 280 290 300
SEFRFAPNHT KELEDKVIEL HKSHRGMTPA EAEMHFLENA KKLSMYGVDL
310 320 330 340 350
HHAKDSEGVE IMLGVCASGL LIYRDRLRIN RFAWPKVLKI SYKRNNFYIK
360 370 380 390 400
IRPGEFEQFE STIGFKLPNH RAAKRLWKVC VEHHTFFRLL LPEAPPKKFL
410 420 430 440 450
TLGSKFRYSG RTQAQTRRAS ALIDRPAPYF ERSSSKRYTM SRSLDGEVGT
460 470 480 490 500
GQYATTKGIS QTNLITTVTP EKKAEEERDE EEDKRRKGEE VTPISAIRHE
510 520 530 540 550
GKSPGLGTDS CPLSPPSTHC APTSPTELRR RCKENDCKLP GYEPSRAEHL
560 570 580 590 600
PGEPALDSDG PGRPYLGDQD VAFSYRQQTG KGTTLFSFSL QLPESFPSLL
610 620 630 640 650
DDDGYLSFPN LSETNLLPQS LQHYLPIRSP SLVPCFLFIF FFLLSASFSV
660 670 680 690 700
PYALTLSFPL ALCLCYLEPK AASLSASLDN DPSDSSEEET DSERTDTAAD
710 720 730 740 750
GETTATESDQ EEDAELKAQE LEKTQDDLMK HQTNISELKR TFLETSTDTA
760 770 780 790 800
VTNEWEKRLS TSPVRLAARQ EDAPMIEPLV PEETKQSSGE KLMDGSEIFS
810 820 830 840 850
LLESARKPTE FIGGVTSTSQ SWVQKMETKT ESSGIETEPT VHHLPLSTEK
860 870 880 890 900
VVQETVLVEE RRVVHASGDA SYSAGDSGDA AAQPAFTGIK GKEGSALTEG
910 920 930 940 950
AKEEGGEEVA KAVLEQEETA AASRERQEEQ SAAIHISETL EQKPHFESST
960 970 980 990 1000
VKTETISFGS VSPGGVKLEI STKEVPVVHT ETKTITYESS QVDPGTDLEP
1010 1020 1030 1040 1050
GVLMSAQTIT SETTSTTTTT HITKTVKGGI SETRIEKRIV ITGDADIDHD
1060 1070 1080
QALAQAIKEA KEQHPDMSVT KVVVHKETEI TPEDGED
Length:1,087
Mass (Da):120,678
Last modified:December 5, 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:i0A33CA4A43F12620
GO
Isoform 2 (identifier: Q9Y2J2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     446-446: G → GASVNENHEIYMKDSMSAA
     503-689: Missing.
     708-719: Missing.
     784-824: Missing.

Show »
Length:865
Mass (Da):96,514
Checksum:iC2070B01BF7F9422
GO
Isoform 3 (identifier: Q9Y2J2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     446-446: G → GASVNENHEIYMKDSMSAA
     503-689: Missing.
     708-719: Missing.
     784-824: Missing.
     835-1087: Missing.

Show »
Length:612
Mass (Da):69,521
Checksum:i3881FB17E0DBAD00
GO
Isoform 4 (identifier: Q9Y2J2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     446-446: G → GASVNENHEIYMKDSMSAA
     503-689: Missing.
     1052-1052: A → E
     1053-1087: Missing.

Show »
Length:883
Mass (Da):98,461
Checksum:iE25FB2E14F6745D3
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 21 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8K968A8K968_HUMAN
Band 4.1-like protein 3
EPB41L3
756Annotation 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>
A0A0A0MRA8A0A0A0MRA8_HUMAN
Band 4.1-like protein 3
EPB41L3
918Annotation 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>
A0A1B0GTF8A0A1B0GTF8_HUMAN
Band 4.1-like protein 3
EPB41L3
571Annotation 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>
A0A0A0MSA4A0A0A0MSA4_HUMAN
Band 4.1-like protein 3
EPB41L3
1,046Annotation 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>
A0A0J9YW31A0A0J9YW31_HUMAN
Band 4.1-like protein 3
EPB41L3
183Annotation 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>
A0A0J9YY18A0A0J9YY18_HUMAN
Band 4.1-like protein 3
EPB41L3
325Annotation 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>
A0A0J9YW26A0A0J9YW26_HUMAN
Band 4.1-like protein 3
EPB41L3
188Annotation 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>
A0A0J9YWE1A0A0J9YWE1_HUMAN
Band 4.1-like protein 3
EPB41L3
194Annotation 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>
A0A0J9YWN0A0A0J9YWN0_HUMAN
Band 4.1-like protein 3
EPB41L3
189Annotation 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>
A0A0J9YWS4A0A0J9YWS4_HUMAN
Band 4.1-like protein 3
EPB41L3
197Annotation 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>
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 AAC79806 differs from that shown. Reason: Frameshift.Curated
The sequence BAA76831 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 conflicti12K → E in BAH12571 (PubMed:14702039).Curated1
Sequence conflicti32Missing in AAC79806 (PubMed:9892180).Curated1
Sequence conflicti498R → Q in AAC79806 (PubMed:9892180).Curated1

Natural variant

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_048353555A → T. Corresponds to variant dbSNP:rs9966357Ensembl.1
Natural variantiVAR_048354575Y → C. Corresponds to variant dbSNP:rs8082898Ensembl.1
Natural variantiVAR_048355859E → Q. Corresponds to variant dbSNP:rs8096452Ensembl.1

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_000482446G → GASVNENHEIYMKDSMSAA in isoform 2, isoform 3 and isoform 4. 3 Publications1
Alternative sequenceiVSP_000483503 – 689Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST187
Alternative sequenceiVSP_000484708 – 719Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST12
Alternative sequenceiVSP_000485784 – 824Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST41
Alternative sequenceiVSP_000486835 – 1087Missing in isoform 3. 1 PublicationAdd BLAST253
Alternative sequenceiVSP_0548191052A → E in isoform 4. 1 Publication1
Alternative sequenceiVSP_0548201053 – 1087Missing in isoform 4. 1 PublicationAdd BLAST35

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
AF069072 mRNA Translation: AAC79806.1 Frameshift.
AB023204 mRNA Translation: BAA76831.1 Different initiation.
AK297406 mRNA Translation: BAH12571.1
AP001032 Genomic DNA No translation available.
AP005059 Genomic DNA No translation available.
AP005671 Genomic DNA No translation available.
BC006141 mRNA Translation: AAH06141.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11838.1 [Q9Y2J2-1]
CCDS62381.1 [Q9Y2J2-2]
CCDS62382.1 [Q9Y2J2-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001268462.1, NM_001281533.1 [Q9Y2J2-4]
NP_001268463.1, NM_001281534.1 [Q9Y2J2-2]
NP_001268464.1, NM_001281535.1
NP_036439.2, NM_012307.3 [Q9Y2J2-1]
XP_016881125.1, XM_017025636.1 [Q9Y2J2-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000341928; ENSP00000343158; ENSG00000082397 [Q9Y2J2-1]
ENST00000540638; ENSP00000442091; ENSG00000082397 [Q9Y2J2-2]
ENST00000544123; ENSP00000441174; ENSG00000082397 [Q9Y2J2-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23136

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23136

UCSC genome browser

More...
UCSCi
uc002kmt.3 human [Q9Y2J2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF069072 mRNA Translation: AAC79806.1 Frameshift.
AB023204 mRNA Translation: BAA76831.1 Different initiation.
AK297406 mRNA Translation: BAH12571.1
AP001032 Genomic DNA No translation available.
AP005059 Genomic DNA No translation available.
AP005671 Genomic DNA No translation available.
BC006141 mRNA Translation: AAH06141.1
CCDSiCCDS11838.1 [Q9Y2J2-1]
CCDS62381.1 [Q9Y2J2-2]
CCDS62382.1 [Q9Y2J2-4]
RefSeqiNP_001268462.1, NM_001281533.1 [Q9Y2J2-4]
NP_001268463.1, NM_001281534.1 [Q9Y2J2-2]
NP_001268464.1, NM_001281535.1
NP_036439.2, NM_012307.3 [Q9Y2J2-1]
XP_016881125.1, XM_017025636.1 [Q9Y2J2-4]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2HE7X-ray2.00A108-390[»]
3BINX-ray2.30A109-390[»]
6IBEX-ray1.45A107-390[»]
SMRiQ9Y2J2
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi116753, 109 interactors
CORUMiQ9Y2J2
DIPiDIP-17035N
IntActiQ9Y2J2, 102 interactors
MINTiQ9Y2J2
STRINGi9606.ENSP00000343158

PTM databases

GlyConnecti1025
iPTMnetiQ9Y2J2
PhosphoSitePlusiQ9Y2J2
SwissPalmiQ9Y2J2

Polymorphism and mutation databases

BioMutaiEPB41L3
DMDMi17433099

Proteomic databases

EPDiQ9Y2J2
jPOSTiQ9Y2J2
MassIVEiQ9Y2J2
PaxDbiQ9Y2J2
PeptideAtlasiQ9Y2J2
PRIDEiQ9Y2J2
ProteomicsDBi24274
85811 [Q9Y2J2-1]
85812 [Q9Y2J2-2]
85813 [Q9Y2J2-3]

Genome annotation databases

EnsembliENST00000341928; ENSP00000343158; ENSG00000082397 [Q9Y2J2-1]
ENST00000540638; ENSP00000442091; ENSG00000082397 [Q9Y2J2-2]
ENST00000544123; ENSP00000441174; ENSG00000082397 [Q9Y2J2-4]
GeneIDi23136
KEGGihsa:23136
UCSCiuc002kmt.3 human [Q9Y2J2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23136
DisGeNETi23136

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EPB41L3
HGNCiHGNC:3380 EPB41L3
HPAiHPA028605
MIMi605331 gene
neXtProtiNX_Q9Y2J2
OpenTargetsiENSG00000082397
PharmGKBiPA27813

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3527 Eukaryota
ENOG410Y7NQ LUCA
GeneTreeiENSGT00940000157047
HOGENOMiHOG000228840
InParanoidiQ9Y2J2
KOiK06107
OMAiTSHSWAQ
OrthoDBi193911at2759
PhylomeDBiQ9Y2J2
TreeFamiTF351626

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins
SIGNORiQ9Y2J2

Miscellaneous databases

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

More...
ChiTaRSi
EPB41L3 human
EvolutionaryTraceiQ9Y2J2

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EPB41L3

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

More...
GenomeRNAii
23136
PharosiQ9Y2J2

Protein Ontology

More...
PROi
PR:Q9Y2J2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000082397 Expressed in 230 organ(s), highest expression level in substantia nigra
ExpressionAtlasiQ9Y2J2 baseline and differential
GenevisibleiQ9Y2J2 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
IPR030691 Band4.1-L3
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
PANTHERiPTHR23280:SF20 PTHR23280:SF20, 1 hit
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 nameiE41L3_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: Q9Y2J2
Secondary accession number(s): B7Z4I5
, F5GX05, O95713, Q9BRP5
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: December 5, 2001
Last modified: October 16, 2019
This is version 188 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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