Q9Y587 (AP4S1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names 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

Name:

AP4S1

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 pit Inferred 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)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 144	144	AP-4 complex subunit sigma-1		PRO_0000193820
Natural variations
	Alternative sequence	103 – 144	42	IMFNL…KMSES → VSFFNTVFHSTWQMHSGPYQ EPIDELPKICSALEPQQTCF SPDSSSFKGAASTTPIY in isoform 2.		VSP_040023

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 0B620AFBB3B7F8A1	FASTA	144	17,005
	10 20 30 40 50 60 MIKFFLMVNK QGQTRLSKYY EHVDINKRTL LETEVIKSCL SRSNEQCSFI EYKDFKLIYR 70 80 90 100 110 120 QYAALFIVVG VNDTENEMAI YEFIHNFVEV LDEYFSRVSE LDIMFNLDKV HIILDEMVLN 130 140 GCIVETNRAR ILAPLLILDK MSES
	Isoform 2 [UniParc]. Checksum: CE14C1B5B2AA1F15	FASTA	159	18,564
	10 20 30 40 50 60 MIKFFLMVNK QGQTRLSKYY EHVDINKRTL LETEVIKSCL SRSNEQCSFI EYKDFKLIYR 70 80 90 100 110 120 QYAALFIVVG VNDTENEMAI YEFIHNFVEV LDEYFSRVSE LDVSFFNTVF HSTWQMHSGP 130 140 150 YQEPIDELPK ICSALEPQQT CFSPDSSSFK GAASTTPIY

References

	« Hide 'large scale' referencesShow '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. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	November 1, 1999
Last modified:	January 25, 2012
This is version 87 of the entry and version 1 of the sequence. [Complete history]

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.