Reviewed,
UniProtKB/Swiss-Prot O14617 (AP3D1_HUMAN)
Last modified
June 16, 2009.
Version 84.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: AP-3 complex subunit delta-1 Alternative name(s): Adapter-related protein complex 3 subunit delta-1 AP-3 complex subunit delta Delta-adaptin | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| 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. |
| Sequence processing | The displayed sequence is not processed. |
| 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. |
| Subunit structure | Adaptor protein complex 3 (AP-3) is an 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 | 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. |
| Sequence caution | The sequence AAG35473.1 differs from that shown. Reason: Miscellaneous discrepancy. Contaminating sequence. Presence of an unrelated sequence found on chromosome 7. The sequence AAH10065.1 differs from that shown. Reason: Miscellaneous discrepancy. 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. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein transport Transport |
| Cellular component | Golgi apparatus Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| PTM | Phosphoprotein |
| Gene Ontology (GO) | |
| Biological process | eye pigment biosynthetic process Ref.1 Traceable author statement. Source: ProtInc intracellular protein transport Ref.2Traceable author statement. Source: ProtInc vesicle-mediated transportInferred from electronic annotation. Source: InterPro |
| Cellular component | Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell membrane coatInferred from electronic annotation. Source: InterPro |
| Molecular function | protein binding Inferred from electronic annotation. Source: InterPro protein transporter activityInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
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 | ||||||
| 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 |
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 | |||||
Amino acid modifications | |||||||||
| Modified residue | 632 | 1 | Phosphoserine Ref.7 Ref.9 | ||||||
| Modified residue | 634 | 1 | Phosphoserine Ref.7 Ref.9 | ||||||
| Modified residue | 636 | 1 | Phosphoserine Ref.7 Ref.9 | ||||||
| Modified residue | 658 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 686 | 1 | Phosphoserine Ref.9 | ||||||
| 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 | ||||||
| Modified residue | 829 | 1 | Phosphoserine Ref.8 | ||||||
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: dbSNP rs34569645. | VAR_033517 | |||||
| Natural variant | 1072 | 1 | I → V: dbSNP rs25673. | 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 Ref.6 | ||||||
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: 9303295] [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: 9151686] [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: 15057824] [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: 15489334] [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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-632; SER-634; SER-636 AND SER-658, MASS SPECTROMETRY. Tissue: Epithelium. |
| [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: 18088087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-829, MASS SPECTROMETRY. 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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-632; SER-634; SER-636; SER-686; SER-688; SER-758; SER-759; THR-762; SER-764 AND SER-788, MASS SPECTROMETRY. |
| [10] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| 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_001070991.1. NP_003929.4. |
| UniGene | Hs.512815 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O14617. 4 interactions. |
PTM databases | |
| PhosphoSite | O14617. |
Proteomic databases | |
| PRIDE | O14617. |
Genome annotation databases | |
| Ensembl | ENSG00000065000. Homo sapiens. [Contig view] |
| GeneID | 8943. |
| KEGG | hsa:8943. |
Organism-specific databases | |
| GeneCards | GC19M002051. |
| H-InvDB | HIX0014607. |
| HGNC | HGNC:568. AP3D1. |
| MIM | 607246. gene. |
| PharmGKB | PA24859. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | O14617. |
| HOVERGEN | O14617. |
| OMA | O14617. QCIDEIK. |
Gene expression databases | |
| ArrayExpress | O14617. |
| Bgee | O14617. |
| CleanEx | HS_AP3D1. |
| GermOnline | ENSG00000065000. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR017105. AP3_complex_dsu. IPR011989. ARM-like. IPR010474. BLV_receptor. IPR002553. Clathrin/coatomer_adapt-like_N. [Graphical view] |
| Gene3D | G3DSA:1.25.10.10. ARM-like. 1 hit. |
| Pfam | PF01602. Adaptin_N. 1 hit. PF06375. BLVR. 1 hit. [Graphical view] |
| PIRSF | PIRSF037092. AP3_complex_delta. 1 hit. |
| ProtoNet | Search... |
Other Resources | |
| 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 project | HPI (Human Proteome Initiative) | ||||||||
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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with


