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UniProtKB - Q9UPM8 (AP4E1_HUMAN)

Entry version 162 (16 Oct 2019)
Sequence version 2 (17 Apr 2007)
Previous versions | rss
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Protein

AP-4 complex subunit epsilon-1

Gene

AP4E1

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

Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).2 Publications2 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 - Biological processi

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 processProtein transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis

<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:
AP-4 complex subunit epsilon-1Curated
Alternative name(s):
AP-4 adaptor complex subunit epsilon
Adaptor-related protein complex 4 subunit epsilon-1
Epsilon subunit of AP-4
Epsilon-adaptin
<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:AP4E1Imported
<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 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:573 AP4E1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607244 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UPM8

<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

Golgi apparatus, Membrane

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

<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

Spastic paraplegia 51, autosomal recessive (SPG51)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication.
Related information in OMIM
Stuttering, familial persistent 1 (STUT1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA familial form of stuttering, a disturbance in the normal fluency and time patterning of speech, characterized by frequent repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks. STUT1 inheritance is autosomal dominant.
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_07662096F → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs566579877Ensembl.1
Natural variantiVAR_076622205H → N in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148499164EnsemblClinVar.1
Natural variantiVAR_076625311N → S in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs536656846Ensembl.1
Natural variantiVAR_076626326S → F in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372479885Ensembl.1
Natural variantiVAR_076627384H → R in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs866266998Ensembl.1
Natural variantiVAR_076629475A → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200678853EnsemblClinVar.1
Natural variantiVAR_076630517V → I in STUT1; slightly decreased assembly of the AP-4 complex. 1 PublicationCorresponds to variant dbSNP:rs760021635EnsemblClinVar.1
Natural variantiVAR_076631542M → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs542940704Ensembl.1
Natural variantiVAR_076633623S → P in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766696884Ensembl.1
Natural variantiVAR_076635801E → K in STUT1; slightly decreased assembly of the AP-4 complex. 1 PublicationCorresponds to variant dbSNP:rs556450190EnsemblClinVar.1
Natural variantiVAR_076637905S → P in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780520338Ensembl.1
Natural variantiVAR_076638978P → S in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141278078EnsemblClinVar.1
Natural variantiVAR_0766391080I → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767423538Ensembl.1
Natural variantiVAR_0766401089L → R in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs550237440Ensembl.1
Natural variantiVAR_0766411105R → Q in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139640763EnsemblClinVar.1

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		23431

MalaCards human disease database

More...MalaCardsi		AP4E1
MIMi184450 phenotype
613744 phenotype

Open Targets

More...OpenTargetsi		ENSG00000081014

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

More...Orphaneti		280763 Severe intellectual disability and progressive spastic paraplegia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24865

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UPM8

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AP4E1

Domain mapping of disease mutations (DMDM)

More...DMDMi		145559441

<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_00001937691 – 1137AP-4 complex subunit epsilon-1Add BLAST1137

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 residuei700PhosphoserineCombined sources1
Modified residuei857PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UPM8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UPM8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UPM8

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

More...PaxDbi		Q9UPM8

PeptideAtlas

More...PeptideAtlasi		Q9UPM8

PRoteomics IDEntifications database

More...PRIDEi		Q9UPM8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		39780
85379 [Q9UPM8-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UPM8

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

More...PhosphoSitePlusi		Q9UPM8

<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

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000081014 Expressed in 202 organ(s), highest expression level in female gonad

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UPM8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UPM8 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA041749
HPA041891

<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

Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1) (PubMed:10436028, PubMed:10066790).

Interacts with TEPSIN (PubMed:26542808).

Interacts with GRIA2; probably indirect it mediates the somatodendritic localization of GRIA2 in neurons (By similarity).

By similarity3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		116999, 20 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9UPM8

Protein interaction database and analysis system

More...IntActi		Q9UPM8, 17 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000261842

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

3D structure databases

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

More...SMRi		Q9UPM8

Database of comparative protein structure models

More...ModBasei		Search...

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

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>Regioni727 – 1137Interaction with TEPSIN1 PublicationAdd BLAST411

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the adaptor complexes large subunit family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1062 Eukaryota
ENOG410XPKK LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182838

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231886

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UPM8

KEGG Orthology (KO)

More...KOi		K12400

Identification of Orthologs from Complete Genome Data

More...OMAi		MLALWFR

Database of Orthologous Groups

More...OrthoDBi		250202at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UPM8

TreeFam database of animal gene trees

More...TreeFami		TF332488

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR017109 AP4_complex_esu
IPR028269 AP4E1_C
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR002553 Clathrin/coatomer_adapt-like_N

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01602 Adaptin_N, 1 hit
PF14807 AP4E_app_platf, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF037097 AP4_complex_epsilon, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01356 AP4E_app_platf, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371 SSF48371, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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 2 <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 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UPM8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSDIVEKTLT ALPGLFLQNQ PGGGPAAAKA SFSSRLGSLV RGITALTSKH 
        60         70         80         90        100
EEEKLIQQEL SSLKATVSAP TTTLKMMKEC MVRLIYCEML GYDASFGYIH 
       110        120        130        140        150
AIKLAQQGNL LEKRVGYLAV SLFLHESHEL LLLLVNTVVK DLQSTNLVEV 
       160        170        180        190        200
CMALTVVSQI FPCEMIPAVL PLIEDKLQHS KEIVRRKAVL ALYKFHLIAP 
       210        220        230        240        250
NQVQHIHIKF RKALCDRDVG VMAASLHIYL RMIKENSSGY KDLTGSFVTI 
       260        270        280        290        300
LKQVVGGKLP VEFNYHSVPA PWLQIQLLRI LGLLGKDDQR TSELMYDVLD 
       310        320        330        340        350
ESLRRAELNH NVTYAILFEC VHTVYSIYPK SELLEKAAKC IGKFVLSPKI 
       360        370        380        390        400
NLKYLGLKAL TYVIQQDPTL ALQHQMTIIE CLDHPDPIIK RETLELLYRI 
       410        420        430        440        450
TNAQNITVIV QKMLEYLHQS KEEYVIVNLV GKIAELAEKY APDNAWFIQT 
       460        470        480        490        500
MNAVFSVGGD VMHPDIPNNF LRLLAEGFDD ETEDQQLRLY AVQSYLTLLD 
       510        520        530        540        550
MENVFYPQRF LQVMSWVLGE YSYLLDKETP EEVIAKLYKL LMNDSVSSET 
       560        570        580        590        600
KAWLIAAVTK LTSQAHSSNT VERLIHEFTI SLDTCMRQHA FELKHLHENV 
       610        620        630        640        650
ELMKSLLPVD RSCEDLVVDA SLSFLDGFVA EGLSQGAAPY KPPHQRQEEK 
       660        670        680        690        700
LSQEKVLNFE PYGLSFSSSG FTGRQSPAGI SLGSDVSGNS AETGLKETNS 
       710        720        730        740        750
LKLEGIKKLW GKEGYLPKKE SKTGDESGAL PVPQESIMEN VDQAITKKDQ 
       760        770        780        790        800
SQVLTQSKEE KEKQLLASSL FVGLGSESTI NLLGKADTVS HKFRRKSKVK 
       810        820        830        840        850
EAKSGETTST HNMTCSSFSS LSNVAYEDDY YSNTLHDTGD KELKKFSLTS 
       860        870        880        890        900
ELLDSESLTE LPLVEKFSYC SLSTPSLFAN NNMEIFHPPQ STAASVAKES 
       910        920        930        940        950
SLASSFLEET TEYIHSNAME VCNNETISVS SYKIWKDDCL LMVWSVTNKS 
       960        970        980        990       1000
GLELKSADLE IFPAENFKVT EQPGCCLPVM EAESTKSFQY SVQIEKPFTE 
      1010       1020       1030       1040       1050
GNLTGFISYH MMDTHSAQLE FSVNLSLLDF IRPLKISSDD FGKLWLSFAN 
      1060       1070       1080       1090       1100
DVKQNVKMSE SQAALPSALK TLQQKLRLHI IEIIGNEGLL ACQLLPSIPC 
      1110       1120       1130 
LLHCRVHADV LALWFRSSCS TLPDYLLYQC QKVMEGS
Length:1,137
Mass (Da):127,287
Last modified:April 17, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1784E886EC922875
GO
Isoform 2 (identifier: Q9UPM8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-75: Missing.

Note: No experimental confirmation available.
Show »
Length:1,062
Mass (Da):119,482
Checksum:i14CBDA9A25B63BFF
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YK94H0YK94_HUMAN
AP-4 complex subunit epsilon-1
AP4E1
218Annotation 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>
H0YK95H0YK95_HUMAN
AP-4 complex subunit epsilon-1
AP4E1
321Annotation 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>
H0YL95H0YL95_HUMAN
AP-4 complex subunit epsilon-1
AP4E1
368Annotation 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 conflicti30A → G in AAD43326 (PubMed:10436028).Curated1
Sequence conflicti46L → F in AAD43326 (PubMed:10436028).Curated1
Sequence conflicti214L → P in AAD43326 (PubMed:10436028).Curated1
Sequence conflicti262 – 265EFNY → NF in AAD43326 (PubMed:10436028).Curated4
Sequence conflicti678A → V in CAH18399 (PubMed:17974005).Curated1
Sequence conflicti794R → G in CAH18399 (PubMed:17974005).Curated1
Sequence conflicti991S → G in CAH18399 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07661985I → T1 PublicationCorresponds to variant dbSNP:rs147005786Ensembl.1
Natural variantiVAR_07662096F → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs566579877Ensembl.1
Natural variantiVAR_076621145T → S1 PublicationCorresponds to variant dbSNP:rs200034177Ensembl.1
Natural variantiVAR_031621163C → R3 PublicationsCorresponds to variant dbSNP:rs2306331EnsemblClinVar.1
Natural variantiVAR_076622205H → N in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148499164EnsemblClinVar.1
Natural variantiVAR_076623211R → Q1 PublicationCorresponds to variant dbSNP:rs750328226Ensembl.1
Natural variantiVAR_076624264N → S1 PublicationCorresponds to variant dbSNP:rs145541719EnsemblClinVar.1
Natural variantiVAR_076625311N → S in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs536656846Ensembl.1
Natural variantiVAR_076626326S → F in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372479885Ensembl.1
Natural variantiVAR_076627384H → R in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs866266998Ensembl.1
Natural variantiVAR_076628426I → L1 PublicationCorresponds to variant dbSNP:rs148817957EnsemblClinVar.1
Natural variantiVAR_076629475A → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200678853EnsemblClinVar.1
Natural variantiVAR_076630517V → I in STUT1; slightly decreased assembly of the AP-4 complex. 1 PublicationCorresponds to variant dbSNP:rs760021635EnsemblClinVar.1
Natural variantiVAR_076631542M → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs542940704Ensembl.1
Natural variantiVAR_076632618V → I1 PublicationCorresponds to variant dbSNP:rs142215198EnsemblClinVar.1
Natural variantiVAR_076633623S → P in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766696884Ensembl.1
Natural variantiVAR_076634706I → K1 PublicationCorresponds to variant dbSNP:rs865868636Ensembl.1
Natural variantiVAR_079485719K → E Found in deaf patients; unknown pathological significance. 1 Publication1
Natural variantiVAR_076635801E → K in STUT1; slightly decreased assembly of the AP-4 complex. 1 PublicationCorresponds to variant dbSNP:rs556450190EnsemblClinVar.1
Natural variantiVAR_076636813M → V1 PublicationCorresponds to variant dbSNP:rs779094838Ensembl.1
Natural variantiVAR_076637905S → P in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780520338Ensembl.1
Natural variantiVAR_076638978P → S in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141278078EnsemblClinVar.1
Natural variantiVAR_0766391080I → V in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767423538Ensembl.1
Natural variantiVAR_0766401089L → R in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs550237440Ensembl.1
Natural variantiVAR_0766411105R → Q in STUT1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139640763EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0460091 – 75Missing in isoform 2. 1 PublicationAdd BLAST75

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
AF155156 mRNA Translation: AAD43326.2
AB030653 mRNA Translation: BAA82969.1
CR749604 mRNA Translation: CAH18399.1
AC021752 Genomic DNA No translation available.
AC022407 Genomic DNA No translation available.
AC073964 Genomic DNA No translation available.
CH471082 Genomic DNA Translation: EAW77411.1
BC126308 mRNA Translation: AAI26309.1
BC130466 mRNA Translation: AAI30467.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32240.1 [Q9UPM8-1]
CCDS58362.1 [Q9UPM8-2]

NCBI Reference Sequences

More...RefSeqi		NP_001239056.1, NM_001252127.1 [Q9UPM8-2]
NP_031373.2, NM_007347.4 [Q9UPM8-1]
XP_005254321.1, XM_005254264.3 [Q9UPM8-2]
XP_006720510.1, XM_006720447.3 [Q9UPM8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000261842; ENSP00000261842; ENSG00000081014 [Q9UPM8-1]
ENST00000560508; ENSP00000452976; ENSG00000081014 [Q9UPM8-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23431

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23431

UCSC genome browser

More...UCSCi		uc001zyx.3 human [Q9UPM8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155156 mRNA Translation: AAD43326.2
AB030653 mRNA Translation: BAA82969.1
CR749604 mRNA Translation: CAH18399.1
AC021752 Genomic DNA No translation available.
AC022407 Genomic DNA No translation available.
AC073964 Genomic DNA No translation available.
CH471082 Genomic DNA Translation: EAW77411.1
BC126308 mRNA Translation: AAI26309.1
BC130466 mRNA Translation: AAI30467.1
CCDSiCCDS32240.1 [Q9UPM8-1]
CCDS58362.1 [Q9UPM8-2]
RefSeqiNP_001239056.1, NM_001252127.1 [Q9UPM8-2]
NP_031373.2, NM_007347.4 [Q9UPM8-1]
XP_005254321.1, XM_005254264.3 [Q9UPM8-2]
XP_006720510.1, XM_006720447.3 [Q9UPM8-2]

3D structure databases

SMRiQ9UPM8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116999, 20 interactors
CORUMiQ9UPM8
IntActiQ9UPM8, 17 interactors
STRINGi9606.ENSP00000261842

PTM databases

iPTMnetiQ9UPM8
PhosphoSitePlusiQ9UPM8

Polymorphism and mutation databases

BioMutaiAP4E1
DMDMi145559441

Proteomic databases

EPDiQ9UPM8
jPOSTiQ9UPM8
MassIVEiQ9UPM8
PaxDbiQ9UPM8
PeptideAtlasiQ9UPM8
PRIDEiQ9UPM8
ProteomicsDBi39780
85379 [Q9UPM8-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		23431

Genome annotation databases

EnsembliENST00000261842; ENSP00000261842; ENSG00000081014 [Q9UPM8-1]
ENST00000560508; ENSP00000452976; ENSG00000081014 [Q9UPM8-2]
GeneIDi23431
KEGGihsa:23431
UCSCiuc001zyx.3 human [Q9UPM8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23431
DisGeNETi23431

GeneCards: human genes, protein and diseases

More...GeneCardsi		AP4E1
HGNCiHGNC:573 AP4E1
HPAiHPA041749
HPA041891
MalaCardsiAP4E1
MIMi184450 phenotype
607244 gene
613744 phenotype
neXtProtiNX_Q9UPM8
OpenTargetsiENSG00000081014
Orphaneti280763 Severe intellectual disability and progressive spastic paraplegia
PharmGKBiPA24865

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1062 Eukaryota
ENOG410XPKK LUCA
GeneTreeiENSGT00950000182838
HOGENOMiHOG000231886
InParanoidiQ9UPM8
KOiK12400
OMAiMLALWFR
OrthoDBi250202at2759
PhylomeDBiQ9UPM8
TreeFamiTF332488

Enzyme and pathway databases

ReactomeiR-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis

Miscellaneous databases

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

More...ChiTaRSi		AP4E1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		AP4E1

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

More...GenomeRNAii		23431
PharosiQ9UPM8

Protein Ontology

More...PROi		PR:Q9UPM8

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000081014 Expressed in 202 organ(s), highest expression level in female gonad
ExpressionAtlasiQ9UPM8 baseline and differential
GenevisibleiQ9UPM8 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR017109 AP4_complex_esu
IPR028269 AP4E1_C
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR002553 Clathrin/coatomer_adapt-like_N
PfamiView protein in Pfam
PF01602 Adaptin_N, 1 hit
PF14807 AP4E_app_platf, 1 hit
PIRSFiPIRSF037097 AP4_complex_epsilon, 1 hit
SMARTiView protein in SMART
SM01356 AP4E_app_platf, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAP4E1_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: Q9UPM8
Secondary accession number(s): A0AVD6
, A1L4A9, A6NNX7, H0YKX4, Q68D31, Q9Y588
<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: April 27, 2001
Last sequence update: April 17, 2007
Last modified: October 16, 2019
This is version 162 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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