O14617 (AP3D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 123.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: AP-3 complex subunit delta-1 Alternative name(s): AP-3 complex subunit delta Adapter-related protein complex 3 subunit delta-1 Delta-adaptin | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1153 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. 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. |
| Subunit structure | 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). |
| Subcellular location | Cytoplasm By similarity. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side By similarity. |
| Tissue specificity | Present in all adult tissues examined with the highest levels in skeletal muscle, heart, pancreas and testis. Ref.2 |
| Sequence similarities | Belongs to the adaptor complexes large subunit family. Contains 11 HEAT repeats. |
| Sequence caution | The sequence AAG35473.1 differs from that shown. Reason: Contaminating sequence. Presence of an unrelated sequence found on chromosome 7. The sequence AAH10065.1 differs from that shown. Reason: 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. The sequence BAD92041.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O14617-1) 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. | ||||||
| Isoform 2 (identifier: O14617-2) The sequence of this isoform differs from the canonical sequence as follows: 168-258: Missing. 866-866: K → KKAEDLDFWLSTTPPPAPAPAPAPVPSTDECEDAKTEAQGEEDDAEGQDQD | ||||||
| Note: Contains a phosphoserine at position 828. | ||||||
| Isoform 3 (identifier: O14617-3) The sequence of this isoform differs from the canonical sequence as follows: 117-285: Missing. | ||||||
| Isoform 4 (identifier: O14617-4) The sequence of this isoform differs from the canonical sequence as follows: 746-877: Missing. | ||||||
| Isoform 5 (identifier: O14617-5) The sequence of this isoform differs from the canonical sequence as follows: 866-866: K → KKAEDLDFWLSTTPPPAPAPAPAPVPSTGELSVNTVTTPKDECEDAKTEAQGEEDDAEGQDQD | ||||||
| Note: Contains a phosphoserine at position 931. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||
Molecule processing | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1153 | 1153 | AP-3 complex subunit delta-1 | PRO_0000193766 | |||||||||
Regions | |||||||||||||
| Repeat | 34 – 71 | 38 | HEAT 1 | ||||||||||
| Repeat | 77 – 114 | 38 | HEAT 2 | ||||||||||
| Repeat | 142 – 179 | 38 | HEAT 3 | ||||||||||
| Repeat | 180 – 216 | 37 | HEAT 4 | ||||||||||
| Repeat | 254 – 292 | 39 | HEAT 5 | ||||||||||
| Repeat | 299 – 336 | 38 | HEAT 6 | ||||||||||
| Repeat | 338 – 373 | 36 | HEAT 7 | ||||||||||
| Repeat | 375 – 409 | 35 | HEAT 8 | ||||||||||
| Repeat | 431 – 468 | 38 | HEAT 9 | ||||||||||
| Repeat | 497 – 535 | 39 | HEAT 10 | ||||||||||
| Repeat | 548 – 585 | 38 | HEAT 11 | ||||||||||
| Coiled coil | 659 – 679 | 21 | Potential | ||||||||||
| Coiled coil | 725 – 756 | 32 | Potential | ||||||||||
| Coiled coil | 845 – 869 | 25 | Potential | ||||||||||
| Compositional bias | 828 – 893 | 66 | Lys-rich | ||||||||||
Amino acid modifications | |||||||||||||
| Modified residue | 632 | 1 | Phosphoserine Ref.7 Ref.10 Ref.12 | ||||||||||
| Modified residue | 634 | 1 | Phosphoserine Ref.7 Ref.10 | ||||||||||
| Modified residue | 636 | 1 | Phosphoserine Ref.7 Ref.10 | ||||||||||
| Modified residue | 658 | 1 | Phosphoserine Ref.7 Ref.12 | ||||||||||
| Modified residue | 688 | 1 | Phosphoserine Ref.9 | ||||||||||
| Modified residue | 758 | 1 | Phosphoserine Ref.9 | ||||||||||
| Modified residue | 759 | 1 | Phosphoserine Ref.9 | ||||||||||
| Modified residue | 762 | 1 | Phosphothreonine Ref.9 | ||||||||||
| Modified residue | 764 | 1 | Phosphoserine Ref.9 | ||||||||||
| Modified residue | 788 | 1 | Phosphoserine Ref.9 Ref.10 | ||||||||||
| Modified residue | 829 | 1 | Phosphoserine Ref.10 | ||||||||||
Natural variations | |||||||||||||
| Alternative sequence | 117 – 285 | 169 | Missing in isoform 3. | VSP_000167 | |||||||||
| Alternative sequence | 168 – 258 | 91 | Missing in isoform 2. | VSP_000165 | |||||||||
| Alternative sequence | 746 – 877 | 132 | Missing in isoform 4. | VSP_000168 | |||||||||
| Alternative sequence | 866 | 1 | K → KKAEDLDFWLSTTPPPAPAP APAPVPSTDECEDAKTEAQG EEDDAEGQDQD in isoform 2. | VSP_000166 | |||||||||
| Alternative sequence | 866 | 1 | K → KKAEDLDFWLSTTPPPAPAP APAPVPSTGELSVNTVTTPK DECEDAKTEAQGEEDDAEGQ DQD in isoform 5. | VSP_017106 | |||||||||
| Natural variant | 541 | 1 | G → R. Corresponds to variant rs34569645 [ dbSNP | Ensembl ]. | VAR_033517 | |||||||||
| Natural variant | 1072 | 1 | I → V. Corresponds to variant rs25673 [ dbSNP | Ensembl ]. | VAR_033518 | |||||||||
Experimental info | |||||||||||||
| Sequence conflict | 3 | 1 | L → F in AAD03777. Ref.2 | ||||||||||
| Sequence conflict | 167 | 1 | Missing in AAC34214. Ref.4 | ||||||||||
| Sequence conflict | 252 | 1 | E → G in AAH10065. Ref.5 | ||||||||||
| Sequence conflict | 595 – 603 | 9 | EVSALFAGE → DFVHCCYEL in AAG35473. Ref.6 | ||||||||||
Secondary structure | |||||||||||||
Helix Strand Turn | |||||||||||||
| Beta strand | 704 – 706 | 3 | |||||||||||
| Beta strand | 722 – 728 | 7 | |||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet." Ooi C.E., Moreira J.E., Dell'Angelica E.C., Poy G., Wassarman D.A., Bonifacino J.S. EMBO J. 16:4508-4518(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4). Tissue: Fetal brain. |
| [2] | "Characterization of the adaptor-related protein complex, AP-3." Simpson F., Peden A.A., Christopoulou L., Robinson M.S. J. Cell Biol. 137:835-845(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY. Tissue: Heart. |
| [3] | Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Brain. |
| [4] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Muscle. |
| [6] | "Functional prediction of the coding sequences of 75 new genes deduced by analysis of cDNA clones from human fetal liver." Zhang C., Yu Y., Zhang S., Wei H., Bi J., Zhou G., Dong C., Zai Y., Xu W., Gao F., Liu M., He F. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 74-603 (ISOFORM 1). Tissue: Fetal liver. |
| [7] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-632; SER-634; SER-636 AND SER-658, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Platelet. |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-688; SER-758; SER-759; THR-762; SER-764 AND SER-788, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-828 (ISOFORM 2), PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-931 (ISOFORM 5), MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-632; SER-634; SER-636; SER-788 AND SER-829, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [12] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-632 AND SER-658, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | 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. | ||||||||||||
| IPI | IPI00289608. IPI00411453. IPI00411677. IPI00413686. IPI00719680. | ||||||||||||
| RefSeq | NP_001248755.1. NM_001261826.1. NP_003929.4. NM_003938.6. | ||||||||||||
| UniGene | Hs.512815. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | O14617. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | O14617. 5 interactions. | ||||||||||||
| STRING | 9606.ENSP00000344055. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | O14617. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | O14617. | ||||||||||||
| PRIDE | O14617. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000345016; ENSP00000344055; ENSG00000065000. ENST00000355272; ENSP00000347416; ENSG00000065000. | ||||||||||||
| GeneID | 8943. | ||||||||||||
| KEGG | hsa:8943. | ||||||||||||
| UCSC | uc002luy.3. human. uc002luz.3. human. uc002lva.3. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 8943. | ||||||||||||
| GeneCards | GC19M002101. | ||||||||||||
| H-InvDB | HIX0014607. | ||||||||||||
| HGNC | HGNC:568. AP3D1. | ||||||||||||
| MIM | 607246. gene. | ||||||||||||
| neXtProt | NX_O14617. | ||||||||||||
| PharmGKB | PA24859. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | COG5096. | ||||||||||||
| HOGENOM | HOG000000981. | ||||||||||||
| HOVERGEN | HBG050520. | ||||||||||||
| KO | K12396. | ||||||||||||
| OMA | VCKLTYL. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | O14617. | ||||||||||||
| Bgee | O14617. | ||||||||||||
| CleanEx | HS_AP3D1. | ||||||||||||
| Genevestigator | O14617. | ||||||||||||
| GermOnline | ENSG00000065000. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 1.25.10.10. 1 hit. | ||||||||||||
| InterPro | IPR017105. AP3_complex_dsu. IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR010474. BLV_receptor. IPR002553. Clathrin/coatomer_adapt-like_N. [Graphical view] | ||||||||||||
| Pfam | PF01602. Adaptin_N. 1 hit. PF06375. BLVR. 2 hits. [Graphical view] | ||||||||||||
| PIRSF | PIRSF037092. AP3_complex_delta. 1 hit. | ||||||||||||
| SUPFAM | SSF48371. ARM-type_fold. 1 hit. | ||||||||||||
| PROSITE | PS50077. HEAT_REPEAT. False negative. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| ChiTaRS | AP3D1. human. | ||||||||||||
| GenomeRNAi | 8943. | ||||||||||||
| NextBio | 33636. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | AP3D1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O14617 Secondary accession number(s): O00202 Q9H3C6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
