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Protein

DCC-interacting protein 13-beta

Gene

APPL2

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

Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei234 – 235Breakpoint for chromosomal translocation1 Publication2

<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

  • protein-containing complex binding Source: UniProtKB

GO - Biological processi

  • cell cycle Source: UniProtKB-KW
  • cell proliferation Source: UniProtKB
  • signaling Source: GO_Central
  • signal transduction Source: UniProtKB

<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

Biological processCell cycle

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
Q8NEU8 Curated

<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:
DCC-interacting protein 13-beta
Short name:
Dip13-beta
Alternative name(s):
Adapter protein containing PH domain, PTB domain and leucine zipper motif 2
<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:APPL2
Synonyms:DIP13B
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000136044.11

Human Gene Nomenclature Database

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HGNCi
HGNC:18242 APPL2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606231 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NEU8

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Endosome, Membrane, Nucleus

<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

A chromosomal aberration involving APPL2/DIP13B is found in patients with chromosome 22q13.3 deletion syndrome. Translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2 (PubMed:11431708).1 Publication

Organism-specific databases

DisGeNET

More...
DisGeNETi
55198

Open Targets

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OpenTargetsi
ENSG00000136044

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164741199

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
APPL2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
160419148

<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_00000799871 – 664DCC-interacting protein 13-betaAdd BLAST664

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8NEU8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8NEU8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NEU8

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

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PaxDbi
Q8NEU8

PeptideAtlas

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PeptideAtlasi
Q8NEU8

PRoteomics IDEntifications database

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PRIDEi
Q8NEU8

ProteomicsDB human proteome resource

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ProteomicsDBi
73219

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NEU8

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

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PhosphoSitePlusi
Q8NEU8

<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

High levels in brain, heart, kidney and skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000136044 Expressed in 205 organ(s), highest expression level in corpus callosum

CleanEx database of gene expression profiles

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CleanExi
HS_APPL2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NEU8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8NEU8 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA039688
HPA043925

<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

Binds RAB5A/Rab5 through an N-terminal domain. This interaction is essential for its recruitment to endosomal membranes as well as its role in cell proliferation. Binds subunits of the NuRD/MeCP1 complex.

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120495, 35 interactors

Protein interaction database and analysis system

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IntActi
Q8NEU8, 34 interactors

Molecular INTeraction database

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MINTi
Q8NEU8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000258530

<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

1664
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4H8SX-ray3.50A/B/C/D2-384[»]
5C5BX-ray2.90B/D1-375[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q8NEU8

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

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SMRi
Q8NEU8

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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_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>Domaini277 – 375PHPROSITE-ProRule annotationAdd BLAST99
Domaini488 – 637PIDPROSITE-ProRule annotationAdd BLAST150

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>Regioni1 – 428Required for RAB5A bindingBy similarityAdd BLAST428

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0521 Eukaryota
KOG3536 Eukaryota
ENOG410ZISK LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158319

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000285988

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051394

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NEU8

KEGG Orthology (KO)

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KOi
K20132

Identification of Orthologs from Complete Genome Data

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OMAi
KRVAMME

Database of Orthologous Groups

More...
OrthoDBi
253010at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NEU8

TreeFam database of animal gene trees

More...
TreeFami
TF328669

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1270.60, 1 hit
2.30.29.30, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR006020 PTB/PI_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00169 PH, 1 hit
PF00640 PID, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00233 PH, 1 hit
SM00462 PTB, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF103657 SSF103657, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS01179 PID, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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.

This entry describes 3 <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 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NEU8-1) [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
MPAVDKLLLE EALQDSPQTR SLLSVFEEDA GTLTDYTNQL LQAMQRVYGA
60 70 80 90 100
QNEMCLATQQ LSKQLLAYEK QNFALGKGDE EVISTLHYFS KVVDELNLLH
110 120 130 140 150
TELAKQLADT MVLPIIQFRE KDLTEVSTLK DLFGLASNEH DLSMAKYSRL
160 170 180 190 200
PKKKENEKVK TEVGKEVAAA RRKQHLSSLQ YYCALNALQY RKQMAMMEPM
210 220 230 240 250
IGFAHGQINF FKKGAEMFSK RMDSFLSSVA DMVQSIQVEL EAEAEKMRVS
260 270 280 290 300
QQELLSVDES VYTPDSDVAA PQINRNLIQK AGYLNLRNKT GLVTTTWERL
310 320 330 340 350
YFFTQGGNLM CQPRGAVAGG LIQDLDNCSV MAVDCEDRRY CFQITTPNGK
360 370 380 390 400
SGIILQAESR KENEEWICAI NNISRQIYLT DNPEAVAIKL NQTALQAVTP
410 420 430 440 450
ITSFGKKQES SCPSQNLKNS EMENENDKIV PKATASLPEA EELIAPGTPI
460 470 480 490 500
QFDIVLPATE FLDQNRGSRR TNPFGETEDE SFPEAEDSLL QQMFIVRFLG
510 520 530 540 550
SMAVKTDSTT EVIYEAMRQV LAARAIHNIF RMTESHLMVT SQSLRLIDPQ
560 570 580 590 600
TQVSRANFEL TSVTQFAAHQ ENKRLVGFVI RVPESTGEES LSTYIFESNS
610 620 630 640 650
EGEKICYAIN LGKEIIEVQK DPEALAQLML SIPLTNDGKY VLLNDQPDDD
660
DGNPNEHRGA ESEA
Length:664
Mass (Da):74,493
Last modified:October 23, 2007 - v3
<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:i359404B1CBA813DB
GO
Isoform 2 (identifier: Q8NEU8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.

Note: No experimental confirmation available.
Show »
Length:621
Mass (Da):69,746
Checksum:i17C12D12E6225086
GO
Isoform 3 (identifier: Q8NEU8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     138-138: N → NDVCLFL

Note: No experimental confirmation available.
Show »
Length:670
Mass (Da):75,184
Checksum:iD805FD692E06644B
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VXB0F8VXB0_HUMAN
DCC-interacting protein 13-beta
APPL2
235Annotation 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>
H0YH86H0YH86_HUMAN
DCC-interacting protein 13-beta
APPL2
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>
F8W124F8W124_HUMAN
DCC-interacting protein 13-beta
APPL2
61Annotation 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>
F8VWV2F8VWV2_HUMAN
DCC-interacting protein 13-beta
APPL2
144Annotation 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>
F8VR68F8VR68_HUMAN
DCC-interacting protein 13-beta
APPL2
39Annotation 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>
F8VS86F8VS86_HUMAN
DCC-interacting protein 13-beta
APPL2
107Annotation 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>

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 conflicti295T → A (PubMed:14702039).Curated1
Sequence conflicti448T → A (PubMed:14702039).Curated1
Sequence conflicti528N → S in BAH12496 (PubMed:14702039).Curated1
Sequence conflicti575L → P in BAH12397 (PubMed:14702039).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_021505433A → V2 PublicationsCorresponds to variant dbSNP:rs2272495Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0447711 – 43Missing in isoform 2. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_044772138N → NDVCLFL in isoform 3. 1 Publication1

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
AY113704 mRNA Translation: AAM55530.1
AK001521 mRNA No translation available.
AK296610 mRNA Translation: BAH12397.1
AK297100 mRNA Translation: BAH12496.1
AC016257 Genomic DNA No translation available.
AC078874 Genomic DNA No translation available.
BC033731 mRNA Translation: AAH33731.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS58275.1 [Q8NEU8-2]
CCDS58276.1 [Q8NEU8-3]
CCDS9101.1 [Q8NEU8-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001238833.1, NM_001251904.1 [Q8NEU8-3]
NP_001238834.1, NM_001251905.1 [Q8NEU8-2]
NP_060641.2, NM_018171.3 [Q8NEU8-1]
XP_016875041.1, XM_017019552.1 [Q8NEU8-2]
XP_016875042.1, XM_017019553.1 [Q8NEU8-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.506603

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000258530; ENSP00000258530; ENSG00000136044 [Q8NEU8-1]
ENST00000539978; ENSP00000444472; ENSG00000136044 [Q8NEU8-2]
ENST00000551662; ENSP00000446917; ENSG00000136044 [Q8NEU8-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55198

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55198

UCSC genome browser

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UCSCi
uc001tlf.2 human [Q8NEU8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY113704 mRNA Translation: AAM55530.1
AK001521 mRNA No translation available.
AK296610 mRNA Translation: BAH12397.1
AK297100 mRNA Translation: BAH12496.1
AC016257 Genomic DNA No translation available.
AC078874 Genomic DNA No translation available.
BC033731 mRNA Translation: AAH33731.1
CCDSiCCDS58275.1 [Q8NEU8-2]
CCDS58276.1 [Q8NEU8-3]
CCDS9101.1 [Q8NEU8-1]
RefSeqiNP_001238833.1, NM_001251904.1 [Q8NEU8-3]
NP_001238834.1, NM_001251905.1 [Q8NEU8-2]
NP_060641.2, NM_018171.3 [Q8NEU8-1]
XP_016875041.1, XM_017019552.1 [Q8NEU8-2]
XP_016875042.1, XM_017019553.1 [Q8NEU8-2]
UniGeneiHs.506603

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4H8SX-ray3.50A/B/C/D2-384[»]
5C5BX-ray2.90B/D1-375[»]
ProteinModelPortaliQ8NEU8
SMRiQ8NEU8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120495, 35 interactors
IntActiQ8NEU8, 34 interactors
MINTiQ8NEU8
STRINGi9606.ENSP00000258530

Protein family/group databases

MoonDBiQ8NEU8 Curated

PTM databases

iPTMnetiQ8NEU8
PhosphoSitePlusiQ8NEU8

Polymorphism and mutation databases

BioMutaiAPPL2
DMDMi160419148

Proteomic databases

EPDiQ8NEU8
jPOSTiQ8NEU8
MaxQBiQ8NEU8
PaxDbiQ8NEU8
PeptideAtlasiQ8NEU8
PRIDEiQ8NEU8
ProteomicsDBi73219

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
55198
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258530; ENSP00000258530; ENSG00000136044 [Q8NEU8-1]
ENST00000539978; ENSP00000444472; ENSG00000136044 [Q8NEU8-2]
ENST00000551662; ENSP00000446917; ENSG00000136044 [Q8NEU8-3]
GeneIDi55198
KEGGihsa:55198
UCSCiuc001tlf.2 human [Q8NEU8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55198
DisGeNETi55198
EuPathDBiHostDB:ENSG00000136044.11

GeneCards: human genes, protein and diseases

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GeneCardsi
APPL2

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0010948
HGNCiHGNC:18242 APPL2
HPAiHPA039688
HPA043925
MIMi606231 gene
neXtProtiNX_Q8NEU8
OpenTargetsiENSG00000136044
PharmGKBiPA164741199

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0521 Eukaryota
KOG3536 Eukaryota
ENOG410ZISK LUCA
GeneTreeiENSGT00940000158319
HOGENOMiHOG000285988
HOVERGENiHBG051394
InParanoidiQ8NEU8
KOiK20132
OMAiKRVAMME
OrthoDBi253010at2759
PhylomeDBiQ8NEU8
TreeFamiTF328669

Miscellaneous databases

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

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ChiTaRSi
APPL2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
APPL2

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

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GenomeRNAii
55198

Protein Ontology

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PROi
PR:Q8NEU8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136044 Expressed in 205 organ(s), highest expression level in corpus callosum
CleanExiHS_APPL2
ExpressionAtlasiQ8NEU8 baseline and differential
GenevisibleiQ8NEU8 HS

Family and domain databases

Gene3Di1.20.1270.60, 1 hit
2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR006020 PTB/PI_dom
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00640 PID, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00462 PTB, 1 hit
SUPFAMiSSF103657 SSF103657, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS01179 PID, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiDP13B_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: Q8NEU8
Secondary accession number(s): B7Z411
, B7Z4B0, F5GZG0, F8W1P5, Q8N4R7, Q9NVL2
<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: March 15, 2005
Last sequence update: October 23, 2007
Last modified: January 16, 2019
This is version 150 of the entry and version 3 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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