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UniProtKB - Q9UKG1 (DP13A_HUMAN)

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

Adapter protein that interacts with proteins involved in different cellular signaling pathways. Required for the regulation of cell proliferation in response to extracellular signals from an early endosomal compartment. Links Rab5 to nuclear signal transduction. Involved in the regulation of the insulin receptor signaling pathway.3 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

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cell cycle Source: UniProtKB-KW
  • cell proliferation Source: UniProtKB
  • extrinsic apoptotic signaling pathway in absence of ligand Source: Reactome
  • insulin receptor signaling pathway Source: UniProtKB
  • regulation of glucose import Source: BHF-UCL
  • regulation of protein localization to plasma membrane Source: BHF-UCL
  • signaling Source: GO_Central
  • signal transduction Source: UniProtKB
View the complete GO annotation on QuickGO ...

<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

More...SignaLinki		Q9UKG1

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UKG1

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...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-alpha
Short name:
Dip13-alpha
Alternative name(s):
Adapter protein containing PH domain, PTB domain and leucine zipper motif 1
<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:APPL1
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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000157500.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:24035 APPL1

Online Mendelian Inheritance in Man (OMIM)

More...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; 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

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.
See also OMIM:616511
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

More...jPOSTi		Q9UKG1

MaxQB - The MaxQuant DataBase

More...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

More...PRIDEi		Q9UKG1

ProteomicsDB human proteome resource

More...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

CleanEx database of gene expression profiles

More...CleanExi		HS_APPL1

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UKG1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...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

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 DCC and the catalytic domain of the inactive form of AKT2 through its PID domain. Binds PIK3CA and subunits of the NuRD/MeCP1 complex. Interacts with OCRL and INPP5B. Interacts with NTRK2 (By similarity).By similarity7 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

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		117522, 74 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9UKG1

Database of interacting proteins

More...DIPi		DIP-29322N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...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

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
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[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9UKG1

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

More...SMRi		Q9UKG1

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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>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

More...GeneTreei		ENSGT00940000156624

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000285988

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051394

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UKG1

KEGG Orthology (KO)

More...KOi		K08733

Identification of Orthologs from Complete Genome Data

More...OMAi		SDVETMQ

Database of Orthologous Groups

More...OrthoDBi		253010at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UKG1

TreeFam database of animal gene trees

More...TreeFami		TF328669

Family and domain databases

Conserved Domains Database

More...CDDi		cd07631 BAR_APPL1, 1 hit

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
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

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

Superfamily database of structural and functional annotation

More...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>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
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>
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>

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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

More...CCDSi		CCDS2882.1

NCBI Reference Sequences

More...RefSeqi		NP_036228.1, NM_012096.2

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.476415

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000288266; ENSP00000288266; ENSG00000157500
ENST00000650354; ENSP00000498115; ENSG00000157500

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26060

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26060

UCSC genome browser

More...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
UniGeneiHs.476415

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ9UKG1
SMRiQ9UKG1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117522, 74 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

More...CTDi		26060
DisGeNETi26060
EuPathDBiHostDB:ENSG00000157500.10

GeneCards: human genes, protein and diseases

More...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

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0521 Eukaryota
KOG3536 Eukaryota
ENOG410ZWZQ LUCA
GeneTreeiENSGT00940000156624
HOGENOMiHOG000285988
HOVERGENiHBG051394
InParanoidiQ9UKG1
KOiK08733
OMAiSDVETMQ
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

More...ChiTaRSi		APPL1 human
EvolutionaryTraceiQ9UKG1

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		APPL1

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

More...GenomeRNAii		26060

Protein Ontology

More...PROi		PR:Q9UKG1

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000157500 Expressed in 219 organ(s), highest expression level in corpus callosum
CleanExiHS_APPL1
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

More...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 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: January 16, 2019
This is version 160 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. 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 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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