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Entry version 162 (08 May 2019)
Sequence version 1 (01 May 2000)
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Protein

DCC-interacting protein 13-alpha

Gene

APPL1

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

Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:26583432, PubMed:15016378, PubMed:26073777, PubMed:19661063, PubMed:10490823). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Functions as a positive regulator of innate immune response via activation of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Inhibits Fc-gamma receptor-mediated phagocytosis through PI3K/Akt signaling in macrophages (By similarity). Regulates TLR4 signaling in activated macrophages (By similarity). Involved in trafficking of the TGFBR1 from the endosomes to the nucleus via microtubules in a TRAF6-dependent manner (PubMed:26583432). Plays a role in cell metabolism by regulating adiponecting and insulin signaling pathways (PubMed:26073777, PubMed:19661063, PubMed:24879834). Required for fibroblast migration through HGF cell signaling (By similarity). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (PubMed:19433865).By similarity7 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

Biological processCell cycle

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-418889 Caspase activation via Dependence Receptors in the absence of ligand

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q9UKG1

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9UKG1

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
Q9UKG1 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-alphaCurated
Short name:
Dip13-alpha1 Publication
Alternative name(s):
Adapter protein containing PH domain, PTB domain and leucine zipper motif 1Curated
<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:APPL1Imported
Synonyms:APPLImported, DIP13A, KIAA1428Imported
<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 3

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:24035 APPL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604299 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UKG1

<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 projection, Cytoplasm, Cytoplasmic vesicle, 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

Maturity-onset diabetes of the young 14 (MODY14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
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_07585794D → N in MODY14; no effect on protein abundance; loss of function in insulin receptor signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs796065047EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi410S → D: Decreased interaction with OCRL. 1 Publication1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
26060

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
APPL1

MalaCards human disease database

More...
MalaCardsi
APPL1
MIMi616511 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000157500

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

More...
Orphaneti
552 MODY

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162376755

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
APPL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
61213025

<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_00000799851 – 709DCC-interacting protein 13-alphaAdd BLAST709

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 residuei399PhosphothreonineCombined sources1
Modified residuei401PhosphoserineCombined sources1
Modified residuei410Phosphoserine; by PKA1 Publication1
Modified residuei693PhosphoserineBy similarity1
Modified residuei696PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation at Ser-410 by PKA severely impairs binding to OCRL.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UKG1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UKG1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9UKG1

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

More...
PaxDbi
Q9UKG1

PeptideAtlas

More...
PeptideAtlasi
Q9UKG1

PRoteomics IDEntifications database

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PRIDEi
Q9UKG1

ProteomicsDB human proteome resource

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ProteomicsDBi
84785

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UKG1

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

More...
PhosphoSitePlusi
Q9UKG1

<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 heart, ovary, pancreas and skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000157500 Expressed in 219 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UKG1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UKG1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA011138
HPA073477

<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

Homodimer (PubMed:18034774). 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 (PubMed:15016378). Binds DCC and the catalytic domain of the inactive form of AKT2 through its PID domain (PubMed:10490823, PubMed:12011067). Binds PIK3CA and subunits of the NuRD/MeCP1 complex (PubMed:10490823, PubMed:15016378).

Interacts with OCRL and INPP5B (PubMed:21666675, PubMed:17765681, PubMed:20133602, PubMed:21233288).

Interacts with NTRK2 (By similarity).

Interacts with APPL2; interaction is independent of follicle stimulating hormone stimulation; interaction is decreased by adiponectin in a time-dependent manner (PubMed:17030088, PubMed:18034774, PubMed:19661063).

Forms a complex with APPL2 and RUVBL2 (PubMed:19433865).

Forms a complex comprising APPL2, RUVBL2, CTNNB1, HDAC1 and HDAC2; interaction reduces interaction between CTNNB1, HDAC1, HDAC2 and RUVBL2 leading to the decrease of deacetylase activity of this complex; affects the recruitment of repressive complexes to the Wnt target genes (PubMed:19433865).

Interacts with ANXA2 (PubMed:21645192).

Interacts with TGFBR1; interaction is TGF beta dependent; mediates trafficking of the TGFBR1 from the endosomes to the nucleus via microtubules in a TRAF6-dependent manner (PubMed:26583432).

Interacts with PRKCZ (PubMed:26583432).

Interacts with PIK3R1 and APPL2 (By similarity).

Interacts with ADIPOR1; ADIPOQ enhances this interaction; inhibites adiponectin-stimulated binding of APPL2 to ADIPOR1 (By similarity).

By similarity13 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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117522, 78 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UKG1

Database of interacting proteins

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DIPi
DIP-29322N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q9UKG1

Protein interaction database and analysis system

More...
IntActi
Q9UKG1, 88 interactors

Molecular INTeraction database

More...
MINTi
Q9UKG1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000288266

<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

1709
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
Q9UKG1

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9UKG1

<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>Domaini3 – 268BARPROSITE-ProRule annotationAdd BLAST266
Domaini277 – 375PHPROSITE-ProRule annotationAdd BLAST99
Domaini496 – 656PIDPROSITE-ProRule annotationAdd BLAST161

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 bindingAdd BLAST428

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili215 – 259Sequence analysisAdd BLAST45
Coiled coili621 – 673Sequence analysisAdd BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi403 – 414F&HAdd BLAST12

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Overexpression of an N-terminal domain (residues 1-319) or a C-terminal region (residues 273-709) has a proapoptotic effect.1 Publication
The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0521 Eukaryota
KOG3536 Eukaryota
ENOG410ZWZQ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156624

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000285988

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UKG1

KEGG Orthology (KO)

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KOi
K08733

Identification of Orthologs from Complete Genome Data

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OMAi
IFESNND

Database of Orthologous Groups

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OrthoDBi
253010at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UKG1

TreeFam database of animal gene trees

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TreeFami
TF328669

Family and domain databases

Conserved Domains Database

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CDDi
cd07631 BAR_APPL1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.1270.60, 1 hit
2.30.29.30, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR037929 APPL1_BAR
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

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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>. 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>Sequence (1+)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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9UKG1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPGIDKLPIE ETLEDSPQTR SLLGVFEEDA TAISNYMNQL YQAMHRIYDA
60 70 80 90 100
QNELSAATHL TSKLLKEYEK QRFPLGGDDE VMSSTLQQFS KVIDELSSCH
110 120 130 140 150
AVLSTQLADA MMFPITQFKE RDLKEILTLK EVFQIASNDH DAAINRYSRL
160 170 180 190 200
SKKRENDKVK YEVTEDVYTS RKKQHQTMMH YFCALNTLQY KKKIALLEPL
210 220 230 240 250
LGYMQAQISF FKMGSENLNE QLEEFLANIG TSVQNVRREM DSDIETMQQT
260 270 280 290 300
IEDLEVASDP LYVPDPDPTK FPVNRNLTRK AGYLNARNKT GLVSSTWDRQ
310 320 330 340 350
FYFTQGGNLM SQARGDVAGG LAMDIDNCSV MAVDCEDRRY CFQITSFDGK
360 370 380 390 400
KSSILQAESK KDHEEWICTI NNISKQIYLS ENPEETAARV NQSALEAVTP
410 420 430 440 450
SPSFQQRHES LRPAAGQSRP PTARTSSSGS LGSESTNLAA LSLDSLVAPD
460 470 480 490 500
TPIQFDIISP VCEDQPGQAK AFGQGGRRTN PFGESGGSTK SETEDSILHQ
510 520 530 540 550
LFIVRFLGSM EVKSDDHPDV VYETMRQILA ARAIHNIFRM TESHLLVTCD
560 570 580 590 600
CLKLIDPQTQ VTRLTFPLPC VVLYATHQEN KRLFGFVLRT SSGRSESNLS
610 620 630 640 650
SVCYIFESNN EGEKICDSVG LAKQIALHAE LDRRASEKQK EIERVKEKQQ
660 670 680 690 700
KELNKQKQIE KDLEEQSRLI AASSRPNQAS SEGQFVVLSS SQSEESDLGE

GGKKRESEA
Length:709
Mass (Da):79,663
Last modified:May 1, 2000 - v1
<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:i4CABECFCF4BB110D
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JAB0C9JAB0_HUMAN
DCC-interacting protein 13-alpha
APPL1
133Annotation 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>
C9K0C4C9K0C4_HUMAN
DCC-interacting protein 13-alpha
APPL1
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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07585794D → N in MODY14; no effect on protein abundance; loss of function in insulin receptor signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs796065047EnsemblClinVar.1
Natural variantiVAR_050958108A → V. Corresponds to variant dbSNP:rs4381906Ensembl.1
Natural variantiVAR_035909643E → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_050959700E → G. Corresponds to variant dbSNP:rs11544593Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF169797 mRNA Translation: AAF04012.1
AF424738 mRNA Translation: AAL17835.1
AB037849 mRNA Translation: BAA92666.2
BC028599 mRNA Translation: AAH28599.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2882.1

NCBI Reference Sequences

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RefSeqi
NP_036228.1, NM_012096.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000288266; ENSP00000288266; ENSG00000157500
ENST00000650354; ENSP00000498115; ENSG00000157500

Database of genes from NCBI RefSeq genomes

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GeneIDi
26060

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:26060

UCSC genome browser

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UCSCi
uc003dio.4 human

Keywords - Coding sequence diversityi

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
AF169797 mRNA Translation: AAF04012.1
AF424738 mRNA Translation: AAL17835.1
AB037849 mRNA Translation: BAA92666.2
BC028599 mRNA Translation: AAH28599.1
CCDSiCCDS2882.1
RefSeqiNP_036228.1, NM_012096.2

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
2EJ8X-ray1.84A/B492-644[»]
2ELAX-ray2.00A/B493-646[»]
2ELBX-ray2.60A1-376[»]
2Q12X-ray1.79A5-265[»]
2Q13X-ray2.05A5-385[»]
2Z0NX-ray1.95A1-275[»]
2Z0OX-ray2.58A1-385[»]
5C5BX-ray2.90A/C5-375[»]
SMRiQ9UKG1
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117522, 78 interactors
CORUMiQ9UKG1
DIPiDIP-29322N
ELMiQ9UKG1
IntActiQ9UKG1, 88 interactors
MINTiQ9UKG1
STRINGi9606.ENSP00000288266

Protein family/group databases

MoonDBiQ9UKG1 Curated

PTM databases

iPTMnetiQ9UKG1
PhosphoSitePlusiQ9UKG1

Polymorphism and mutation databases

BioMutaiAPPL1
DMDMi61213025

Proteomic databases

EPDiQ9UKG1
jPOSTiQ9UKG1
MaxQBiQ9UKG1
PaxDbiQ9UKG1
PeptideAtlasiQ9UKG1
PRIDEiQ9UKG1
ProteomicsDBi84785

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000288266; ENSP00000288266; ENSG00000157500
ENST00000650354; ENSP00000498115; ENSG00000157500
GeneIDi26060
KEGGihsa:26060
UCSCiuc003dio.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
26060
DisGeNETi26060

GeneCards: human genes, protein and diseases

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GeneCardsi
APPL1
GeneReviewsiAPPL1
HGNCiHGNC:24035 APPL1
HPAiHPA011138
HPA073477
MalaCardsiAPPL1
MIMi604299 gene
616511 phenotype
neXtProtiNX_Q9UKG1
OpenTargetsiENSG00000157500
Orphaneti552 MODY
PharmGKBiPA162376755

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0521 Eukaryota
KOG3536 Eukaryota
ENOG410ZWZQ LUCA
GeneTreeiENSGT00940000156624
HOGENOMiHOG000285988
InParanoidiQ9UKG1
KOiK08733
OMAiIFESNND
OrthoDBi253010at2759
PhylomeDBiQ9UKG1
TreeFamiTF328669

Enzyme and pathway databases

ReactomeiR-HSA-418889 Caspase activation via Dependence Receptors in the absence of ligand
SignaLinkiQ9UKG1
SIGNORiQ9UKG1

Miscellaneous databases

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

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ChiTaRSi
APPL1 human
EvolutionaryTraceiQ9UKG1

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
APPL1

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

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GenomeRNAii
26060

Protein Ontology

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PROi
PR:Q9UKG1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000157500 Expressed in 219 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ9UKG1 baseline and differential
GenevisibleiQ9UKG1 HS

Family and domain databases

CDDicd07631 BAR_APPL1, 1 hit
Gene3Di1.20.1270.60, 1 hit
2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR037929 APPL1_BAR
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...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiDP13A_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: Q9UKG1
Secondary accession number(s): Q9P2B9
<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: May 1, 2000
Last modified: May 8, 2019
This is version 162 of the entry and version 1 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 chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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