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Protein

AP-4 complex subunit sigma-1

Gene

AP4S1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable).2 Publications2 Publications

Caution

GO - Biological processi

  • protein localization Source: UniProtKB
  • protein targeting Source: UniProtKB

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-432720 Lysosome Vesicle Biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
AP-4 complex subunit sigma-1Curated
Alternative name(s):
AP-4 adaptor complex subunit sigma-1
Adaptor-related protein complex 4 subunit sigma-1
Sigma-1 subunit of AP-4
Sigma-4-adaptin
Short name:
Sigma4-adaptin
Gene namesi
Name:AP4S1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000100478.14
HGNCiHGNC:575 AP4S1
MIMi607243 gene
neXtProtiNX_Q9Y587

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 52, autosomal recessive (SPG52)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. Some patients may have seizures.
See also OMIM:614067

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi11154
MalaCardsiAP4S1
MIMi614067 phenotype
OpenTargetsiENSG00000100478
Orphaneti280763 Severe intellectual disability and progressive spastic paraplegia
PharmGKBiPA24867

Polymorphism and mutation databases

BioMutaiAP4S1
DMDMi13431288

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001938201 – 144AP-4 complex subunit sigma-1Add BLAST144

Proteomic databases

EPDiQ9Y587
PaxDbiQ9Y587
PeptideAtlasiQ9Y587
PRIDEiQ9Y587

PTM databases

iPTMnetiQ9Y587
PhosphoSitePlusiQ9Y587

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiENSG00000100478
CleanExiHS_AP4S1
ExpressionAtlasiQ9Y587 baseline and differential
GenevisibleiQ9Y587 HS

Organism-specific databases

HPAiHPA039963

Interactioni

Subunit structurei

Adaptor protein 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).2 Publications

Protein-protein interaction databases

BioGridi11632522 interactors.
CORUMiQ9Y587
IntActiQ9Y587 20 interactors.
STRINGi9606.ENSP00000216366

Structurei

3D structure databases

ProteinModelPortaliQ9Y587
SMRiQ9Y587
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0934 Eukaryota
COG5030 LUCA
GeneTreeiENSGT00530000062839
HOGENOMiHOG000185227
HOVERGENiHBG050517
InParanoidiQ9Y587
KOiK12403
OMAiENEMAVY
OrthoDBiEOG091G0OOD
PhylomeDBiQ9Y587
TreeFamiTF331913

Family and domain databases

InterProiView protein in InterPro
IPR016635 AP_complex_ssu
IPR022775 AP_mu_sigma_su
IPR011012 Longin-like_dom_sf
PANTHERiPTHR11753 PTHR11753, 1 hit
PfamiView protein in Pfam
PF01217 Clat_adaptor_s, 1 hit
PIRSFiPIRSF015588 AP_complex_sigma, 1 hit
SUPFAMiSSF64356 SSF64356, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y587-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MIKFFLMVNK QGQTRLSKYY EHVDINKRTL LETEVIKSCL SRSNEQCSFI
60 70 80 90 100
EYKDFKLIYR QYAALFIVVG VNDTENEMAI YEFIHNFVEV LDEYFSRVSE
110 120 130 140
LDIMFNLDKV HIILDEMVLN GCIVETNRAR ILAPLLILDK MSES
Length:144
Mass (Da):17,005
Last modified:November 1, 1999 - v1
Checksum:i0B620AFBB3B7F8A1
GO
Isoform 2 (identifier: Q9Y587-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-144: IMFNLDKVHI...LLILDKMSES → VSFFNTVFHS...KGAASTTPIY

Show »
Length:159
Mass (Da):18,564
Checksum:iCE14C1B5B2AA1F15
GO
Isoform 3 (identifier: Q9Y587-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-144: SELDIMFNLD...LLILDKMSES → EPIDELPKIC...KGAASTTPIY

Note: No experimental confirmation available.
Show »
Length:135
Mass (Da):15,737
Checksum:iFE2434EE46F3A6B7
GO
Isoform 4 (identifier: Q9Y587-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-144: IMFNLDKVHI...LLILDKMSES → VSFFNTVFHS...SLHPGSPGLK

Show »
Length:149
Mass (Da):17,384
Checksum:iECE74B200A98A1AE
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04636499 – 144SELDI…KMSES → EPIDELPKICSALEPQQTCF SPDSSSFKGAASTTPIY in isoform 3. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_040023103 – 144IMFNL…KMSES → VSFFNTVFHSTWQMHSGPYQ EPIDELPKICSALEPQQTCF SPDSSSFKGAASTTPIY in isoform 2. 2 PublicationsAdd BLAST42
Alternative sequenceiVSP_046941103 – 144IMFNL…KMSES → VSFFNTVFHSTWQMHSGPYQ TRSCSVTQAGVQRCDHGSLH PGSPGLK in isoform 4. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155159 mRNA Translation: AAD43329.1
AB030654 mRNA Translation: BAA82970.1
BX247969 mRNA Translation: CAD62307.1
BX388185 mRNA No translation available.
BT006701 mRNA Translation: AAP35347.1
CR457100 mRNA Translation: CAG33381.1
AK304115 mRNA Translation: BAG65016.1
AL049830 Genomic DNA No translation available.
AL121808 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW65953.1
CH471078 Genomic DNA Translation: EAW65954.1
CH471078 Genomic DNA Translation: EAW65955.1
BC001259 mRNA Translation: AAH01259.1
CCDSiCCDS45093.1 [Q9Y587-1]
CCDS58309.1 [Q9Y587-4]
CCDS58310.1 [Q9Y587-3]
CCDS9642.1 [Q9Y587-2]
RefSeqiNP_001121598.1, NM_001128126.2 [Q9Y587-1]
NP_001241655.1, NM_001254726.1 [Q9Y587-3]
NP_001241656.1, NM_001254727.1 [Q9Y587-4]
NP_001241657.1, NM_001254728.1 [Q9Y587-1]
NP_001241658.1, NM_001254729.1 [Q9Y587-1]
NP_009008.2, NM_007077.4 [Q9Y587-2]
XP_005267350.1, XM_005267293.4 [Q9Y587-2]
XP_011534673.1, XM_011536371.2 [Q9Y587-2]
XP_011534674.1, XM_011536372.2 [Q9Y587-2]
UniGeneiHs.293411

Genome annotation databases

EnsembliENST00000216366; ENSP00000216366; ENSG00000100478 [Q9Y587-2]
ENST00000313566; ENSP00000322508; ENSG00000100478 [Q9Y587-4]
ENST00000334725; ENSP00000334484; ENSG00000100478 [Q9Y587-4]
ENST00000542754; ENSP00000438170; ENSG00000100478 [Q9Y587-1]
ENST00000554345; ENSP00000450768; ENSG00000100478 [Q9Y587-3]
ENST00000616371; ENSP00000477631; ENSG00000100478 [Q9Y587-1]
ENST00000622409; ENSP00000482876; ENSG00000100478 [Q9Y587-1]
GeneIDi11154
KEGGihsa:11154
UCSCiuc001wqw.5 human [Q9Y587-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiAP4S1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y587
Secondary accession number(s): G3V2N8
, Q6IAQ4, Q86U36, Q9BVE7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1999
Last modified: March 28, 2018
This is version 143 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome