Q9UPM8 (AP4E1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 94.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: AP-4 complex subunit epsilon-1 Alternative name(s): AP-4 adapter complex subunit epsilon Adapter-related protein complex 4 subunit epsilon-1 Epsilon subunit of AP-4 Epsilon-adaptin | ||
| Gene names |
| ||
| 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 | 1137 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. |
| Subunit structure | Adapter-like 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). |
| Subcellular location | Golgi apparatus › trans-Golgi network. Note: Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells. |
| Tissue specificity | Widely expressed. |
| Involvement in disease | Defects in AP4E1 are the cause of cerebral palsy spastic quadriplegic type 4 (CPSQ4) [MIM:613744]. A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication. Ref.8 |
| Sequence similarities | Belongs to the adaptor complexes large subunit family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein transport Transport |
| Cellular component | Golgi apparatus |
| Coding sequence diversity | Polymorphism |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | intracellular protein transport Inferred from electronic annotation. Source: InterPro vesicle-mediated transportInferred from electronic annotation. Source: InterPro |
| Cellular component | COPI vesicle coat Inferred from electronic annotation. Source: InterPro |
| Molecular function | binding Inferred from electronic annotation. Source: InterPro structural molecule activityInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1137 | 1137 | AP-4 complex subunit epsilon-1 | PRO_0000193769 | |||||
Amino acid modifications | |||||||||
| Modified residue | 850 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 857 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Natural variant | 163 | 1 | C → R. Ref.3 Ref.6 Corresponds to variant rs2306331 [ dbSNP | Ensembl ]. | VAR_031621 | |||||
Experimental info | |||||||||
| Sequence conflict | 30 | 1 | A → G in AAD43326. Ref.1 | ||||||
| Sequence conflict | 46 | 1 | L → F in AAD43326. Ref.1 | ||||||
| Sequence conflict | 214 | 1 | L → P in AAD43326. Ref.1 | ||||||
| Sequence conflict | 262 – 265 | 4 | EFNY → NF in AAD43326. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterization of a fourth adaptor-related protein complex." Hirst J., Bright N.A., Rous B., Robinson M.S. Mol. Biol. Cell 10:2787-2802(1999) [PubMed: 10436028] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Heart and Testis. |
| [2] | Hirst J., Robinson M.S. Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [3] | "Similar subunit interactions contribute to assembly of clathrin adaptor complexes and COPI complex: analysis using yeast three-hybrid system." Takatsu H., Futatsumori M., Yoshino K., Yoshida Y., Shin H.W., Nakayama K. Biochem. Biophys. Res. Commun. 284:1083-1089(2001) [PubMed: 11409905] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-163. |
| [4] | "Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. Nusbaum C.Nature 440:671-675(2006) [PubMed: 16572171] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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], VARIANT ARG-163. |
| [7] | "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-850 AND SER-857, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability." Moreno-De-Luca A., Helmers S.L., Mao H., Burns T.G., Melton A.M., Schmidt K.R., Fernhoff P.M., Ledbetter D.H., Martin C.L. J. Med. Genet. 48:141-144(2011) [PubMed: 20972249] [Abstract] Cited for: INVOLVEMENT IN CPSQ4. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF155156 mRNA. Translation: AAD43326.2. AB030653 mRNA. Translation: BAA82969.1. AC073964 Genomic DNA. No translation available. CH471082 Genomic DNA. Translation: EAW77411.1. BC126308 mRNA. Translation: AAI26309.1. BC130466 mRNA. Translation: AAI30467.1. |
| IPI | IPI00010213. |
| RefSeq | NP_001239056.1. NM_001252127.1. NP_031373.2. NM_007347.4. |
| UniGene | Hs.413366. |
3D structure databases | |
| ProteinModelPortal | Q9UPM8. |
| SMR | Q9UPM8. Positions 33-606. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9UPM8. 1 interaction. |
| STRING | Q9UPM8. |
PTM databases | |
| PhosphoSite | Q9UPM8. |
Polymorphism databases | |
| DMDM | 145559441. |
Proteomic databases | |
| PRIDE | Q9UPM8. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000261842; ENSP00000261842; ENSG00000081014. |
| GeneID | 23431. |
| KEGG | hsa:23431. |
| UCSC | uc001zyx.1. human. |
Organism-specific databases | |
| CTD | 23431. |
| GeneCards | GC15P051200. |
| H-InvDB | HIX0038066. |
| HGNC | HGNC:573. AP4E1. |
| HPA | HPA041749. HPA041891. |
| MIM | 607244. gene. 613744. phenotype. |
| neXtProt | NX_Q9UPM8. |
| Orphanet | 210141. Congenital spastic tetraplegia. |
| PharmGKB | PA24865. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG08866. |
| GeneTree | ENSGT00390000012618. |
| HOGENOM | HBG713560. |
| HOVERGEN | HBG050522. |
| InParanoid | Q9UPM8. |
| OMA | VKQNVKM. |
| OrthoDB | EOG4QFWCJ. |
| PhylomeDB | Q9UPM8. |
Enzyme and pathway databases | |
| Reactome | REACT_11123. Membrane Trafficking. |
Gene expression databases | |
| ArrayExpress | Q9UPM8. |
| Bgee | Q9UPM8. |
| CleanEx | HS_AP4E1. |
| Genevestigator | Q9UPM8. |
| GermOnline | ENSG00000081014. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR017109. AP4_complex_esu. IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR002553. Clathrin/coatomer_adapt-like_N. IPR011710. Coatomer_bsu_C. [Graphical view] |
| Gene3D | G3DSA:1.25.10.10. ARM-like. 1 hit. |
| KO | K12400. |
| Pfam | PF01602. Adaptin_N. 1 hit. PF07718. Coatamer_beta_C. 1 hit. [Graphical view] |
| PIRSF | PIRSF037097. AP4_complex_epsilon. 1 hit. |
| SUPFAM | SSF48371. ARM-type_fold. 1 hit. |
| ProtoNet | Search... |
Other | |
| NextBio | 45677. |
| SOURCE | Search... |
Entry information
| Entry name | AP4E1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UPM8 Secondary accession number(s): A0AVD6 Q9Y588 | ||||||||
| 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 15 Human chromosome 15: 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