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Protein

AP-4 complex subunit beta-1

Gene

AP4B1

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 - Molecular functioni

GO - Biological processi

  • protein localization Source: UniProtKB
  • protein targeting Source: UniProtKB
  • vesicle-mediated transport Source: InterPro

<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 beta-1Curated
Alternative name(s):
AP-4 adaptor complex subunit beta
Adaptor-related protein complex 4 subunit beta-1
Beta subunit of AP-4
Beta4-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:AP4B1Imported
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000134262.12

Human Gene Nomenclature Database

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HGNCi
HGNC:572 AP4B1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607245 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y6B7

<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

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 47, autosomal recessive (SPG47)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. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development.
See also OMIM:614066

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>Mutagenesisi635W → A: Decreased interaction with TEPSIN. 1 Publication1
Mutagenesisi669I → A: Decreased interaction with TEPSIN; when associated with S-670. 1 Publication1
Mutagenesisi670A → S: Decreased interaction with TEPSIN; when associated with A-669. 1 Publication1
Mutagenesisi682Y → A or V: Decreased interaction with TEPSIN. 2 Publications1

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
10717

MalaCards human disease database

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MalaCardsi
AP4B1
MIMi614066 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000134262

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

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Orphaneti
280763 Severe intellectual disability and progressive spastic paraplegia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24864

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AP4B1

Domain mapping of disease mutations (DMDM)

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DMDMi
126302520

<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_00001937501 – 739AP-4 complex subunit beta-1Add BLAST739

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y6B7

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

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PaxDbi
Q9Y6B7

PeptideAtlas

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PeptideAtlasi
Q9Y6B7

PRoteomics IDEntifications database

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PRIDEi
Q9Y6B7

ProteomicsDB human proteome resource

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ProteomicsDBi
86647

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y6B7

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

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PhosphoSitePlusi
Q9Y6B7

<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
ENSG00000134262 Expressed in 201 organ(s), highest expression level in right hemisphere of cerebellum

CleanEx database of gene expression profiles

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CleanExi
HS_AP4B1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y6B7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y6B7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA028162
HPA028652

<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:10066790, PubMed:10436028). Interacts with TEPSIN; this interaction requires the presence of a functional AP-4 complex (PubMed:22472443, PubMed:26542808, PubMed:26756312). Interacts with GRIA2; probably indirect it mediates the somatodendritic localization of GRIA2 in neurons (By similarity).By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
ZNF576Q9H6095EBI-1047606,EBI-3921014

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115943, 10 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9Y6B7

Database of interacting proteins

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DIPi
DIP-24209N

Protein interaction database and analysis system

More...
IntActi
Q9Y6B7, 8 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000256658

<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

1739
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9Y6B7

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

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SMRi
Q9Y6B7

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

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>Regioni534 – 600Hinge1 PublicationAdd BLAST67
Regioni601 – 739Ear; mediates interaction with TEPSIN1 PublicationAdd BLAST139

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1061 Eukaryota
COG5096 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157025

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000294128

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG050521

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y6B7

KEGG Orthology (KO)

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KOi
K12401

Identification of Orthologs from Complete Genome Data

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OMAi
DRGFMYW

Database of Orthologous Groups

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OrthoDBi
EOG091G058E

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y6B7

TreeFam database of animal gene trees

More...
TreeFami
TF354235

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.10.10, 1 hit
3.30.310.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026739 AP_beta
IPR016342 AP_complex_bsu_1_2_4
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR015151 B-adaptin_app_sub_C
IPR002553 Clathrin/coatomer_adapt-like_N
IPR012295 TBP_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR11134 PTHR11134, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01602 Adaptin_N, 1 hit
PF09066 B2-adapt-app_C, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF002291 AP_complex_beta, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01020 B2-adapt-app_C, 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>.<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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y6B7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRYM TQGLDMSGVF
60 70 80 90 100
MEMVKASATV DIVQKKLVYL YMCTYAPLKP DLALLAINTL CKDCSDPNPM
110 120 130 140 150
VRGLALRSMC SLRMPGVQEY IQQPILNGLR DKASYVRRVA VLGCAKMHNL
160 170 180 190 200
HGDSEVDGAL VNELYSLLRD QDPIVVVNCL RSLEEILKQE GGVVINKPIA
210 220 230 240 250
HHLLNRMSKL DQWGQAEVLN FLLRYQPRSE EELFDILNLL DSFLKSSSPG
260 270 280 290 300
VVMGATKLFL ILAKMFPHVQ TDVLVRVKGP LLAACSSESR ELCFVALCHV
310 320 330 340 350
RQILHSLPGH FSSHYKKFFC SYSEPHYIKL QKVEVLCELV NDENVQQVLE
360 370 380 390 400
ELRGYCTDVS ADFAQAAIFA IGGIARTYTD QCVQILTELL GLRQEHITTV
410 420 430 440 450
VVQTFRDLVW LCPQCTEAVC QALPGCEENI QDSEGKQALI WLLGVHGERI
460 470 480 490 500
PNAPYVLEDF VENVKSETFP AVKMELLTAL LRLFLSRPAE CQDMLGRLLY
510 520 530 540 550
YCIEEEKDMA VRDRGLFYYR LLLVGIDEVK RILCSPKSDP TLGLLEDPAE
560 570 580 590 600
RPVNSWASDF NTLVPVYGKA HWATISKCQG AERCDPELPK TSSFAASGPL
610 620 630 640 650
IPEENKERVQ ELPDSGALML VPNRQLTADY FEKTWLSLKV AHQQVLPWRG
660 670 680 690 700
EFHPDTLQMA LQVVNIQTIA MSRAGSRPWK AYLSAQDDTG CLFLTELLLE
710 720 730
PGNSEMQISV KQNEARTETL NSFISVLETV IGTIEEIKS
Length:739
Mass (Da):83,260
Last modified:February 20, 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:iB6FC92215BDA5EDC
GO
Isoform 2 (identifier: Q9Y6B7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     113-205: Missing.
     373-395: GIARTYTDQCVQILTELLGLRQE → RCLLLFLLENLDQPARKLWLEEP
     396-739: Missing.

Note: No experimental confirmation available.
Show »
Length:302
Mass (Da):34,403
Checksum:i4B5F9E603C76C5B5
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1ALD0B1ALD0_HUMAN
AP complex subunit beta
AP4B1
571Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B1ALD1B1ALD1_HUMAN
AP-4 complex subunit beta-1
AP4B1
296Annotation 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>
B1ALD3B1ALD3_HUMAN
AP-4 complex subunit beta-1
AP4B1
175Annotation 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>
B1ALD2B1ALD2_HUMAN
AP-4 complex subunit beta-1
AP4B1
262Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAD93054 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti140A → V in AAD20448 (PubMed:10066790).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_030804480L → S2 PublicationsCorresponds to variant dbSNP:rs1217401EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_055787113 – 205Missing in isoform 2. 1 PublicationAdd BLAST93
Alternative sequenceiVSP_055788373 – 395GIART…GLRQE → RCLLLFLLENLDQPARKLWL EEP in isoform 2. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_055789396 – 739Missing in isoform 2. 1 PublicationAdd BLAST344

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF092094 mRNA Translation: AAD20448.1
AK298037 mRNA Translation: BAH12709.1
AB209817 mRNA Translation: BAD93054.1 Different initiation.
AL137856 Genomic DNA No translation available.
BC014146 mRNA Translation: AAH14146.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS865.1 [Q9Y6B7-1]

NCBI Reference Sequences

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RefSeqi
NP_001240781.1, NM_001253852.2 [Q9Y6B7-1]
NP_001240782.1, NM_001253853.2
NP_001295241.1, NM_001308312.1
NP_006585.2, NM_006594.4 [Q9Y6B7-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.515048
Hs.736555

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000256658; ENSP00000256658; ENSG00000134262 [Q9Y6B7-1]
ENST00000369569; ENSP00000358582; ENSG00000134262 [Q9Y6B7-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10717

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10717

UCSC genome browser

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UCSCi
uc001eeb.4 human [Q9Y6B7-1]

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
AF092094 mRNA Translation: AAD20448.1
AK298037 mRNA Translation: BAH12709.1
AB209817 mRNA Translation: BAD93054.1 Different initiation.
AL137856 Genomic DNA No translation available.
BC014146 mRNA Translation: AAH14146.1
CCDSiCCDS865.1 [Q9Y6B7-1]
RefSeqiNP_001240781.1, NM_001253852.2 [Q9Y6B7-1]
NP_001240782.1, NM_001253853.2
NP_001295241.1, NM_001308312.1
NP_006585.2, NM_006594.4 [Q9Y6B7-1]
UniGeneiHs.515048
Hs.736555

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
2MJ7NMR-A610-739[»]
ProteinModelPortaliQ9Y6B7
SMRiQ9Y6B7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115943, 10 interactors
CORUMiQ9Y6B7
DIPiDIP-24209N
IntActiQ9Y6B7, 8 interactors
STRINGi9606.ENSP00000256658

PTM databases

iPTMnetiQ9Y6B7
PhosphoSitePlusiQ9Y6B7

Polymorphism and mutation databases

BioMutaiAP4B1
DMDMi126302520

Proteomic databases

EPDiQ9Y6B7
PaxDbiQ9Y6B7
PeptideAtlasiQ9Y6B7
PRIDEiQ9Y6B7
ProteomicsDBi86647

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
10717
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256658; ENSP00000256658; ENSG00000134262 [Q9Y6B7-1]
ENST00000369569; ENSP00000358582; ENSG00000134262 [Q9Y6B7-1]
GeneIDi10717
KEGGihsa:10717
UCSCiuc001eeb.4 human [Q9Y6B7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10717
DisGeNETi10717
EuPathDBiHostDB:ENSG00000134262.12

GeneCards: human genes, protein and diseases

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GeneCardsi
AP4B1
HGNCiHGNC:572 AP4B1
HPAiHPA028162
HPA028652
MalaCardsiAP4B1
MIMi607245 gene
614066 phenotype
neXtProtiNX_Q9Y6B7
OpenTargetsiENSG00000134262
Orphaneti280763 Severe intellectual disability and progressive spastic paraplegia
PharmGKBiPA24864

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1061 Eukaryota
COG5096 LUCA
GeneTreeiENSGT00940000157025
HOGENOMiHOG000294128
HOVERGENiHBG050521
InParanoidiQ9Y6B7
KOiK12401
OMAiDRGFMYW
OrthoDBiEOG091G058E
PhylomeDBiQ9Y6B7
TreeFamiTF354235

Enzyme and pathway databases

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

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
AP4B1

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

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GenomeRNAii
10717

Protein Ontology

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PROi
PR:Q9Y6B7

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000134262 Expressed in 201 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_AP4B1
ExpressionAtlasiQ9Y6B7 baseline and differential
GenevisibleiQ9Y6B7 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
3.30.310.10, 1 hit
InterProiView protein in InterPro
IPR026739 AP_beta
IPR016342 AP_complex_bsu_1_2_4
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR015151 B-adaptin_app_sub_C
IPR002553 Clathrin/coatomer_adapt-like_N
IPR012295 TBP_dom_sf
PANTHERiPTHR11134 PTHR11134, 1 hit
PfamiView protein in Pfam
PF01602 Adaptin_N, 1 hit
PF09066 B2-adapt-app_C, 1 hit
PIRSFiPIRSF002291 AP_complex_beta, 1 hit
SMARTiView protein in SMART
SM01020 B2-adapt-app_C, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAP4B1_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: Q9Y6B7
Secondary accession number(s): B7Z4X3, Q59EJ4, Q96CL6
<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: February 20, 2007
Last modified: December 5, 2018
This is version 157 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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