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Protein

AP-1 complex subunit sigma-3

Gene

AP1S3

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

Functioni

Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Involved in TLR3 trafficking (PubMed:24791904).1 Publication

GO - Biological processi

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-164940 Nef mediated downregulation of MHC class I complex cell surface expression
R-HSA-2132295 MHC class II antigen presentation
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
AP-1 complex subunit sigma-3
Alternative name(s):
Adaptor protein complex AP-1 subunit sigma-1C
Adaptor-related protein complex 1 subunit sigma-1C
Clathrin assembly protein complex 1 sigma-1C small chain
Golgi adaptor HA1/AP1 adaptin sigma-1C subunit
Sigma 1C subunit of AP-1 clathrin
Sigma-adaptin 1C
Sigma1C-adaptin
Gene namesi
Name:AP1S3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000152056.16
HGNCiHGNC:18971 AP1S3
MIMi615781 gene
neXtProtiNX_Q96PC3

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

Coated pit, Cytoplasmic vesicle, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Psoriasis 15, pustular (PSORS15)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of pustular psoriasis, a life-threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high-grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein.
See also OMIM:616106
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0725454F → C in PSORS15; results in decreased protein levels. 1 PublicationCorresponds to variant dbSNP:rs116107386EnsemblClinVar.1
Natural variantiVAR_07254933R → W in PSORS15; results in decreased TLR3 targeting to the endosomes indicating impaired function. 1 PublicationCorresponds to variant dbSNP:rs138292988EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi130340
MalaCardsiAP1S3
MIMi616106 phenotype
OpenTargetsiENSG00000152056
Orphaneti163931 Acrodermatitis continua suppurativa of Hallopeau
247353 Generalized pustular psoriasis
163927 Pustulosis palmaris et plantaris

Polymorphism and mutation databases

BioMutaiAP1S3
DMDMi21541959

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001938011 – 154AP-1 complex subunit sigma-3Add BLAST154

Proteomic databases

MaxQBiQ96PC3
PaxDbiQ96PC3
PeptideAtlasiQ96PC3
PRIDEiQ96PC3
ProteomicsDBi77660
77661 [Q96PC3-2]
77662 [Q96PC3-3]
77663 [Q96PC3-4]

PTM databases

iPTMnetiQ96PC3
PhosphoSitePlusiQ96PC3

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiENSG00000152056
CleanExiHS_AP1S3
ExpressionAtlasiQ96PC3 baseline and differential
GenevisibleiQ96PC3 HS

Organism-specific databases

HPAiHPA066782

Interactioni

Subunit structurei

Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3).

Binary interactionsi

WithEntry#Exp.IntActNotes
AAGABQ6PD743EBI-3923129,EBI-719906

Protein-protein interaction databases

BioGridi126229, 16 interactors
CORUMiQ96PC3
IntActiQ96PC3, 5 interactors
STRINGi9606.ENSP00000379891

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4HMYX-ray7.00S1-154[»]
ProteinModelPortaliQ96PC3
SMRiQ96PC3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0934 Eukaryota
COG5030 LUCA
GeneTreeiENSGT00530000062839
HOGENOMiHOG000185227
HOVERGENiHBG050517
InParanoidiQ96PC3
KOiK12395
OMAiFCCAVEN
OrthoDBiEOG091G0QZV
PhylomeDBiQ96PC3
TreeFamiTF312921

Family and domain databases

InterProiView protein in InterPro
IPR016635 AP_complex_ssu
IPR022775 AP_mu_sigma_su
IPR000804 Clathrin_sm-chain_CS
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
PROSITEiView protein in PROSITE
PS00989 CLAT_ADAPTOR_S, 1 hit

Sequences (4)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96PC3-1) [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
MIHFILLFSR QGKLRLQKWY ITLPDKERKK ITREIVQIIL SRGHRTSSFV
60 70 80 90 100
DWKELKLVYK RYASLYFCCA IENQDNELLT LEIVHRYVEL LDKYFGNVCE
110 120 130 140 150
LDIIFNFEKA YFILDEFIIG GEIQETSKKI AVKAIEDSDM LQEVSTVSQT

MGER
Length:154
Mass (Da):18,280
Last modified:December 1, 2001 - v1
Checksum:i178755E8EA4E9ABE
GO
Isoform 2 (identifier: Q96PC3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     144-154: VSTVSQTMGER → NRLSPRGRDCSEPRSCHCTLA

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:164
Mass (Da):19,445
Checksum:i4588CDFD04DA9DBC
GO
Isoform 4 (identifier: Q96PC3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     144-154: VSTVSQTMGER → TMEEYMNKPTF

Note: No experimental confirmation available.
Show »
Length:154
Mass (Da):18,477
Checksum:iB0511E775FBED447
GO
Isoform 3 (identifier: Q96PC3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     98-104: VCELDII → TWPFARA
     105-154: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:104
Mass (Da):12,655
Checksum:i16193FBF026884ED
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0725454F → C in PSORS15; results in decreased protein levels. 1 PublicationCorresponds to variant dbSNP:rs116107386EnsemblClinVar.1
Natural variantiVAR_07254617Q → K1 PublicationCorresponds to variant dbSNP:rs750870128Ensembl.1
Natural variantiVAR_07254722T → A1 PublicationCorresponds to variant dbSNP:rs149183052Ensembl.1
Natural variantiVAR_07254832T → I1 PublicationCorresponds to variant dbSNP:rs78536455Ensembl.1
Natural variantiVAR_07254933R → W in PSORS15; results in decreased TLR3 targeting to the endosomes indicating impaired function. 1 PublicationCorresponds to variant dbSNP:rs138292988EnsemblClinVar.1
Natural variantiVAR_07255079L → V1 PublicationCorresponds to variant dbSNP:rs34353588Ensembl.1
Natural variantiVAR_07255183I → T1 PublicationCorresponds to variant dbSNP:rs202157374Ensembl.1
Natural variantiVAR_072552124Q → E1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01594298 – 104VCELDII → TWPFARA in isoform 3. 1 Publication7
Alternative sequenceiVSP_015943105 – 154Missing in isoform 3. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_015944144 – 154VSTVSQTMGER → NRLSPRGRDCSEPRSCHCTL A in isoform 2. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_040384144 – 154VSTVSQTMGER → TMEEYMNKPTF in isoform 4. 1 PublicationAdd BLAST11

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF393369 mRNA Translation: AAL09586.1
AK299026 mRNA Translation: BAG61103.1
AC012512 Genomic DNA No translation available.
AC093884 Genomic DNA No translation available.
BC009606 mRNA Translation: AAH09606.1
BC021898 mRNA Translation: AAH21898.1
CCDSiCCDS42827.1 [Q96PC3-4]
RefSeqiNP_001034658.1, NM_001039569.1 [Q96PC3-4]
UniGeneiHs.632555

Genome annotation databases

EnsembliENST00000396654; ENSP00000379891; ENSG00000152056 [Q96PC3-4]
ENST00000415298; ENSP00000401705; ENSG00000152056 [Q96PC3-3]
ENST00000443700; ENSP00000397155; ENSG00000152056 [Q96PC3-2]
ENST00000446015; ENSP00000388738; ENSG00000152056 [Q96PC3-1]
GeneIDi130340
KEGGihsa:130340
UCSCiuc002vnn.4 human [Q96PC3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAP1S3_HUMAN
AccessioniPrimary (citable) accession number: Q96PC3
Secondary accession number(s): B4DQZ1, Q8WTY1, Q96DD1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: December 1, 2001
Last modified: June 20, 2018
This is version 132 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

3D-structure, Complete proteome, Reference proteome

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