Q9Y587 (AP4S1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 87.
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-4 complex subunit sigma-1 Alternative name(s): AP-4 adapter complex subunit sigma-1 Adapter-related protein complex 4 subunit sigma-1 Sigma-1 subunit of AP-4 Sigma-4-adaptin Short name=Sigma4-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 | 144 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript 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 subunitAP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1). |
| Subcellular location | Golgi apparatus › trans-Golgi network. Membrane › coated pit. 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 AP4S1 are the cause of cerebral palsy spastic quadriplegic type 6 (CPSQ6) [MIM:614067]. CPSQ6 is a neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. Ref.8 |
| Sequence similarities | Belongs to the adaptor complexes small subunit family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein transport Transport |
| Cellular component | Coated pit Golgi apparatus Membrane |
| Coding sequence diversity | Alternative splicing |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular component | Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell coated pitInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | protein transporter activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9Y587-1) 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: Q9Y587-2) The sequence of this isoform differs from the canonical sequence as follows: 103-144: IMFNLDKVHI...LLILDKMSES → VSFFNTVFHS...KGAASTTPIY |
Sequence annotation (Features)
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] (ISOFORM 1). Tissue: Placenta. |
| [2] | "Identification and characterization of epsilon-adaptin that constitutes AP-4 clathrin adaptor-related complex." Takatsu H., Sakurai M., Shiba Y., Yoshida Y., Nakayama K. Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [3] | "Cloning of human full-length CDSs in BD Creator(TM) System Donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [4] | "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Trachea. |
| [6] | 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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 2). Tissue: Placenta. |
| [8] | "Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature." Abou Jamra R., Philippe O., Raas-Rothschild A., Eck S.H., Graf E., Buchert R., Borck G., Ekici A., Brockschmidt F.F., Nothen M.M., Munnich A., Strom T.M., Reis A., Colleaux L. Am. J. Hum. Genet. 88:788-795(2011) [PubMed: 21620353] [Abstract] Cited for: INVOLVEMENT IN CPSQ6. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF155159 mRNA. Translation: AAD43329.1. AB030654 mRNA. Translation: BAA82970.1. BT006701 mRNA. Translation: AAP35347.1. CR457100 mRNA. Translation: CAG33381.1. AK304115 mRNA. Translation: BAG65016.1. CH471078 Genomic DNA. Translation: EAW65954.1. CH471078 Genomic DNA. Translation: EAW65955.1. BC001259 mRNA. Translation: AAH01259.1. |
| IPI | IPI00001145. IPI00020385. |
| RefSeq | NP_001121598.1. NM_001128126.1. NP_009008.2. NM_007077.3. |
| UniGene | Hs.293411. |
3D structure databases | |
| ProteinModelPortal | Q9Y587. |
| SMR | Q9Y587. Positions 1-142. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9Y587. 4 interactions. |
| STRING | Q9Y587. |
PTM databases | |
| PhosphoSite | Q9Y587. |
Polymorphism databases | |
| DMDM | 13431288. |
Proteomic databases | |
| PRIDE | Q9Y587. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000313566; ENSP00000322508; ENSG00000100478. |
| GeneID | 11154. |
| KEGG | hsa:11154. |
| UCSC | uc001wqy.2. human. |
Organism-specific databases | |
| CTD | 11154. |
| GeneCards | GC14P031494. |
| H-InvDB | HIX0020120. |
| HGNC | HGNC:575. AP4S1. |
| HPA | HPA039963. |
| MIM | 607243. gene. 614067. phenotype. |
| neXtProt | NX_Q9Y587. |
| Orphanet | 210141. Congenital spastic tetraplegia. |
| PharmGKB | PA24867. |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00530000062839. |
| HOVERGEN | HBG050517. |
| OMA | RLSRYYE. |
| PhylomeDB | Q9Y587. |
Gene expression databases | |
| ArrayExpress | Q9Y587. |
| Bgee | Q9Y587. |
| CleanEx | HS_AP4S1. |
| Genevestigator | Q9Y587. |
| GermOnline | ENSG00000100478. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR016635. AP_complex_ssu. IPR022775. AP_mu_sigma_su. IPR011012. Longin-like. [Graphical view] |
| KO | K12403. |
| PANTHER | PTHR11753. PTHR11753. 1 hit. |
| Pfam | PF01217. Clat_adaptor_s. 1 hit. [Graphical view] |
| PIRSF | PIRSF015588. AP_complex_sigma. 1 hit. |
| SUPFAM | SSF64356. Longin_like. 1 hit. |
| PROSITE | PS00989. CLAT_ADAPTOR_S. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 42409. |
| SOURCE | Search... |
Entry information
| Entry name | AP4S1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y587 Secondary accession number(s): Q6IAQ4, Q9BVE7 | ||||||||
| 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 14 Human chromosome 14: entries, gene names and cross-references to MIM |
| 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