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Entry version 185 (08 May 2019)
Sequence version 1 (01 Jan 1998)
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Protein

AP-3 complex subunit delta-1

Gene

AP3D1

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

Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity).By similarity1 Publication

<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

  • transporter activity Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processProtein transport, Transport

<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-3 complex subunit delta-1
Alternative name(s):
AP-3 complex subunit delta
Adaptor-related protein complex 3 subunit delta-1
Delta-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:AP3D1
ORF Names:PRO0039
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:568 AP3D1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607246 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O14617

<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

Cytoplasm, 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

Hermansky-Pudlak syndrome 10 (HPS10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS10 patients manifest albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing.
See also OMIM:617050

Keywords - Diseasei

Albinism, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
8943

MalaCards human disease database

More...
MalaCardsi
AP3D1
MIMi617050 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000065000

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

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Orphaneti
284804 Ocular albinism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24859

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AP3D1

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00001937662 – 1153AP-3 complex subunit delta-1Add BLAST1152

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 residuei2N-acetylalanineCombined sources1
Modified residuei632PhosphoserineCombined sources1
Modified residuei634PhosphoserineCombined sources1
Modified residuei636PhosphoserineCombined sources1
Modified residuei658PhosphoserineCombined sources1
Modified residuei688PhosphoserineCombined sources1
Modified residuei758PhosphoserineCombined sources1
Modified residuei759PhosphoserineCombined sources1
Modified residuei762PhosphothreonineCombined sources1
Modified residuei764PhosphoserineCombined sources1
Modified residuei788PhosphoserineCombined sources1
Modified residuei829PhosphoserineCombined sources1
Isoform 2 (identifier: O14617-2)
Modified residuei785PhosphoserineCombined sources1
Modified residuei828PhosphoserineCombined sources1
Isoform 5 (identifier: O14617-5)
Modified residuei931PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O14617

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O14617

MaxQB - The MaxQuant DataBase

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MaxQBi
O14617

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

More...
PaxDbi
O14617

PeptideAtlas

More...
PeptideAtlasi
O14617

PRoteomics IDEntifications database

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PRIDEi
O14617

ProteomicsDB human proteome resource

More...
ProteomicsDBi
48117
48118 [O14617-2]
48119 [O14617-3]
48120 [O14617-4]
48121 [O14617-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O14617

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

More...
PhosphoSitePlusi
O14617

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O14617

<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

Present in all adult tissues examined with the highest levels in skeletal muscle, heart, pancreas and testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000065000 Expressed in 239 organ(s), highest expression level in tendon of biceps brachii

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O14617 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O14617 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA074408

<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

AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2) (By similarity). Interacts with SLC30A2 (PubMed:25808614).By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114455, 54 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O14617

Database of interacting proteins

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DIPi
DIP-46793N

Protein interaction database and analysis system

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IntActi
O14617, 37 interactors

Molecular INTeraction database

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MINTi
O14617

STRING: functional protein association networks

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STRINGi
9606.ENSP00000347416

<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

11153
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4AFIX-ray2.80A/B680-729[»]

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

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SMRi
O14617

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati34 – 71HEAT 1Add BLAST38
Repeati77 – 114HEAT 2Add BLAST38
Repeati142 – 179HEAT 3Add BLAST38
Repeati180 – 216HEAT 4Add BLAST37
Repeati254 – 292HEAT 5Add BLAST39
Repeati299 – 336HEAT 6Add BLAST38
Repeati338 – 373HEAT 7Add BLAST36
Repeati375 – 409HEAT 8Add BLAST35
Repeati431 – 468HEAT 9Add BLAST38
Repeati497 – 535HEAT 10Add BLAST39
Repeati548 – 585HEAT 11Add BLAST38

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 coili659 – 679Sequence analysisAdd BLAST21
Coiled coili725 – 756Sequence analysisAdd BLAST32
Coiled coili845 – 869Sequence analysisAdd BLAST25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi828 – 893Lys-richAdd BLAST66

<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

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1059 Eukaryota
ENOG410XQFB LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00550000075067

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000000981

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O14617

KEGG Orthology (KO)

More...
KOi
K12396

Identification of Orthologs from Complete Genome Data

More...
OMAi
MTYDIQG

Database of Orthologous Groups

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OrthoDBi
598949at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O14617

TreeFam database of animal gene trees

More...
TreeFami
TF105666

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
IPR017105 AP3_complex_dsu
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR002553 Clathrin/coatomer_adapt-like_N

The PANTHER Classification System

More...
PANTHERi
PTHR22781 PTHR22781, 1 hit

Pfam protein domain database

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

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF037092 AP3_complex_delta, 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 (5+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <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 5 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14617-1) [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
MALKMVKGSI DRMFDKNLQD LVRGIRNHKE DEAKYISQCI DEIKQELKQD
60 70 80 90 100
NIAVKANAVC KLTYLQMLGY DISWAAFNII EVMSASKFTF KRIGYLAASQ
110 120 130 140 150
SFHEGTDVIM LTTNQIRKDL SSPSQYDTGV ALTGLSCFVT PDLARDLAND
160 170 180 190 200
IMTLMSHTKP YIRKKAVLIM YKVFLKYPES LRPAFPRLKE KLEDPDPGVQ
210 220 230 240 250
SAAVNVICEL ARRNPKNYLS LAPLFFKLMT SSTNNWVLIK IIKLFGALTP
260 270 280 290 300
LEPRLGKKLI EPLTNLIHST SAMSLLYECV NTVIAVLISL SSGMPNHSAS
310 320 330 340 350
IQLCVQKLRI LIEDSDQNLK YLGLLAMSKI LKTHPKSVQS HKDLILQCLD
360 370 380 390 400
DKDESIRLRA LDLLYGMVSK KNLMEIVKKL MTHVDKAEGT TYRDELLTKI
410 420 430 440 450
IDICSQSNYQ YITNFEWYIS ILVELTRLEG TRHGHLIAAQ MLDVAIRVKA
460 470 480 490 500
IRKFAVSQMS ALLDSAHLLA SSTQRNGICE VLYAAAWICG EFSEHLQEPH
510 520 530 540 550
HTLEAMLRPR VTTLPGHIQA VYVQNVVKLY ASILQQKEQA GEAEGAQAVT
560 570 580 590 600
QLMVDRLPQF VQSADLEVQE RASCILQLVK HIQKLQAKDV PVAEEVSALF
610 620 630 640 650
AGELNPVAPK AQKKVPVPEG LDLDAWINEP LSDSESEDER PRAVFHEEEQ
660 670 680 690 700
RRPKHRPSEA DEEELARRRE ARKQEQANNP FYIKSSPSPQ KRYQDTPGVE
710 720 730 740 750
HIPVVQIDLS VPLKVPGLPM SDQYVKLEEE RRHRQKLEKD KRRKKRKEKE
760 770 780 790 800
KKGKRRHSSL PTESDEDIAP AQQVDIVTEE MPENALPSDE DDKDPNDPYR
810 820 830 840 850
ALDIDLDKPL ADSEKLPIQK HRNTETSKSP EKDVPMVEKK SKKPKKKEKK
860 870 880 890 900
HKEKERDKEK KKEKEKKKSP KPKKKKHRKE KEERTKGKKK SKKQPPGSEE
910 920 930 940 950
AAGEPVQNGA PEEEQLPPES SYSLLAENSY VKMTCDIRGS LQEDSQVTVA
960 970 980 990 1000
IVLENRSSSI LKGMELSVLD SLNARMARPQ GSSVHDGVPV PFQLPPGVSN
1010 1020 1030 1040 1050
EAQYVFTIQS IVMAQKLKGT LSFIAKNDEG ATHEKLDFRL HFSCSSYLIT
1060 1070 1080 1090 1100
TPCYSDAFAK LLESGDLSMS SIKVDGIRMS FQNLLAKICF HHHFSVVERV
1110 1120 1130 1140 1150
DSCASMYSRS IQGHHVCLLV KKGENSVSVD GKCSDSTLLS NLLEEMKATL

AKC
Length:1,153
Mass (Da):130,158
Last modified:January 1, 1998 - 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:i1B491DD64EAD5096
GO
Isoform 2 (identifier: O14617-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     168-258: Missing.
     866-866: K → KKAEDLDFWLSTTPPPAPAPAPAPVPSTDECEDAKTEAQGEEDDAEGQDQD

Show »
Length:1,112
Mass (Da):125,040
Checksum:i33380E690D5AC35F
GO
Isoform 3 (identifier: O14617-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     117-285: Missing.

Show »
Length:984
Mass (Da):111,238
Checksum:i8FA5C9ED9EF57A83
GO
Isoform 4 (identifier: O14617-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     746-877: Missing.

Show »
Length:1,021
Mass (Da):114,707
Checksum:i730F9AD61CEF63DD
GO
Isoform 5 (identifier: O14617-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     866-866: K → KKAEDLDFWLSTTPPPAPAPAPAPVPSTGELSVNTVTTPKDECEDAKTEAQGEEDDAEGQDQD

Show »
Length:1,215
Mass (Da):136,651
Checksum:iE77257F13AD4A67F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y611A0A2R8Y611_HUMAN
AP-3 complex subunit delta-1
AP3D1
945Annotation 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>
A0A087WYN6A0A087WYN6_HUMAN
AP-3 complex subunit delta-1
AP3D1
203Annotation 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>
A0A2R8YCY8A0A2R8YCY8_HUMAN
AP-3 complex subunit delta-1
AP3D1
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4J3A0A2R8Y4J3_HUMAN
AP-3 complex subunit delta-1
AP3D1
431Annotation 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>
K7ELX8K7ELX8_HUMAN
AP-3 complex subunit delta-1
AP3D1
193Annotation 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>
K7ERW8K7ERW8_HUMAN
AP-3 complex subunit delta-1
AP3D1
174Annotation 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 AAG35473 differs from that shown. Contaminating sequence. Presence of an unrelated sequence found on chromosome 7.Curated
The sequence AAH10065 differs from that shown. Lack of 8 exons and truncation of 2 other exons in the C- terminus. Alternative splicing seems doubtful, since exon-intron junctions are not the consensus ones.Curated
The sequence BAD92041 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 conflicti3L → F in AAD03777 (PubMed:9151686).Curated1
Sequence conflicti167Missing in AAC34214 (PubMed:15057824).Curated1
Sequence conflicti252E → G in AAH10065 (PubMed:15489334).Curated1
Sequence conflicti595 – 603EVSALFAGE → DFVHCCYEL in AAG35473 (Ref. 6) Curated9

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_033517541G → R. Corresponds to variant dbSNP:rs34569645Ensembl.1
Natural variantiVAR_0335181072I → V. Corresponds to variant dbSNP:rs25673Ensembl.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_000167117 – 285Missing in isoform 3. 1 PublicationAdd BLAST169
Alternative sequenceiVSP_000165168 – 258Missing in isoform 2. 2 PublicationsAdd BLAST91
Alternative sequenceiVSP_000168746 – 877Missing in isoform 4. 1 PublicationAdd BLAST132
Alternative sequenceiVSP_000166866K → KKAEDLDFWLSTTPPPAPAP APAPVPSTDECEDAKTEAQG EEDDAEGQDQD in isoform 2. 2 Publications1
Alternative sequenceiVSP_017106866K → KKAEDLDFWLSTTPPPAPAP APAPVPSTGELSVNTVTTPK DECEDAKTEAQGEEDDAEGQ DQD in isoform 5. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF002163 mRNA Translation: AAC51761.1
U91930 mRNA Translation: AAD03777.1
AB208804 mRNA Translation: BAD92041.1 Different initiation.
AC005545 Genomic DNA Translation: AAC34212.1
AC005545 Genomic DNA Translation: AAC34214.1
BC010065 mRNA Translation: AAH10065.1 Sequence problems.
AF130042 mRNA Translation: AAG35473.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42459.1 [O14617-1]
CCDS58638.1 [O14617-5]

NCBI Reference Sequences

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RefSeqi
NP_001248755.1, NM_001261826.1 [O14617-5]
NP_003929.4, NM_003938.6 [O14617-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000345016; ENSP00000344055; ENSG00000065000 [O14617-1]
ENST00000355272; ENSP00000347416; ENSG00000065000 [O14617-5]
ENST00000643116; ENSP00000495274; ENSG00000065000 [O14617-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8943

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8943

UCSC genome browser

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UCSCi
uc002luz.4 human [O14617-1]

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
AF002163 mRNA Translation: AAC51761.1
U91930 mRNA Translation: AAD03777.1
AB208804 mRNA Translation: BAD92041.1 Different initiation.
AC005545 Genomic DNA Translation: AAC34212.1
AC005545 Genomic DNA Translation: AAC34214.1
BC010065 mRNA Translation: AAH10065.1 Sequence problems.
AF130042 mRNA Translation: AAG35473.1 Sequence problems.
CCDSiCCDS42459.1 [O14617-1]
CCDS58638.1 [O14617-5]
RefSeqiNP_001248755.1, NM_001261826.1 [O14617-5]
NP_003929.4, NM_003938.6 [O14617-1]

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4AFIX-ray2.80A/B680-729[»]
SMRiO14617
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114455, 54 interactors
CORUMiO14617
DIPiDIP-46793N
IntActiO14617, 37 interactors
MINTiO14617
STRINGi9606.ENSP00000347416

PTM databases

iPTMnetiO14617
PhosphoSitePlusiO14617
SwissPalmiO14617

Polymorphism and mutation databases

BioMutaiAP3D1

Proteomic databases

EPDiO14617
jPOSTiO14617
MaxQBiO14617
PaxDbiO14617
PeptideAtlasiO14617
PRIDEiO14617
ProteomicsDBi48117
48118 [O14617-2]
48119 [O14617-3]
48120 [O14617-4]
48121 [O14617-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000345016; ENSP00000344055; ENSG00000065000 [O14617-1]
ENST00000355272; ENSP00000347416; ENSG00000065000 [O14617-5]
ENST00000643116; ENSP00000495274; ENSG00000065000 [O14617-5]
GeneIDi8943
KEGGihsa:8943
UCSCiuc002luz.4 human [O14617-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8943
DisGeNETi8943

GeneCards: human genes, protein and diseases

More...
GeneCardsi
AP3D1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0014607
HGNCiHGNC:568 AP3D1
HPAiHPA074408
MalaCardsiAP3D1
MIMi607246 gene
617050 phenotype
neXtProtiNX_O14617
OpenTargetsiENSG00000065000
Orphaneti284804 Ocular albinism
PharmGKBiPA24859

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1059 Eukaryota
ENOG410XQFB LUCA
GeneTreeiENSGT00550000075067
HOGENOMiHOG000000981
InParanoidiO14617
KOiK12396
OMAiMTYDIQG
OrthoDBi598949at2759
PhylomeDBiO14617
TreeFamiTF105666

Miscellaneous databases

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

More...
ChiTaRSi
AP3D1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
AP3D1

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

More...
GenomeRNAii
8943

Protein Ontology

More...
PROi
PR:O14617

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000065000 Expressed in 239 organ(s), highest expression level in tendon of biceps brachii
ExpressionAtlasiO14617 baseline and differential
GenevisibleiO14617 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR017105 AP3_complex_dsu
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR002553 Clathrin/coatomer_adapt-like_N
PANTHERiPTHR22781 PTHR22781, 1 hit
PfamiView protein in Pfam
PF01602 Adaptin_N, 1 hit
PIRSFiPIRSF037092 AP3_complex_delta, 1 hit
SUPFAMiSSF48371 SSF48371, 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 nameiAP3D1_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: O14617
Secondary accession number(s): O00202
, O75262, Q59HF5, Q96G11, Q9H3C6
<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: February 11, 2002
Last sequence update: January 1, 1998
Last modified: May 8, 2019
This is version 185 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 chromosome 19
    Human chromosome 19: 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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