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Protein

AP-1 complex subunit sigma-1A

Gene

AP1S1

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.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-1A
Alternative name(s):
Adaptor protein complex AP-1 subunit sigma-1A
Adaptor-related protein complex 1 subunit sigma-1A
Clathrin assembly protein complex 1 sigma-1A small chain
Clathrin coat assembly protein AP19
Golgi adaptor HA1/AP1 adaptin sigma-1A subunit
HA1 19 kDa subunit
Sigma 1a subunit of AP-1 clathrin
Sigma-adaptin 1A
Sigma1A-adaptin
Gene namesi
Name:AP1S1
Synonyms:AP19, CLAPS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106367.13
HGNCiHGNC:559 AP1S1
MIMi603531 gene
neXtProtiNX_P61966

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

Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea.
See also OMIM:609313

Keywords - Diseasei

Deafness, Ichthyosis, Mental retardation, Neuropathy

Organism-specific databases

DisGeNETi1174
MalaCardsiAP1S1
MIMi609313 phenotype
OpenTargetsiENSG00000106367
Orphaneti171851 MEDNIK syndrome
PharmGKBiPA24850

Polymorphism and mutation databases

BioMutaiAP1S1
DMDMi48428719

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001937971 – 158AP-1 complex subunit sigma-1AAdd BLAST158

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei147PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP61966
MaxQBiP61966
PaxDbiP61966
PeptideAtlasiP61966
PRIDEiP61966

PTM databases

iPTMnetiP61966
PhosphoSitePlusiP61966

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Inductioni

Up-regulated in response to enterovirus 71 (EV71) infection.1 Publication

Gene expression databases

BgeeiENSG00000106367
CleanExiHS_AP1S1
ExpressionAtlasiP61966 baseline and differential
GenevisibleiP61966 HS

Organism-specific databases

HPAiHPA060945

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
RAB10P610262EBI-516199,EBI-726075

Protein-protein interaction databases

BioGridi10758821 interactors.
CORUMiP61966
IntActiP61966 12 interactors.
STRINGi9606.ENSP00000336666

Structurei

Secondary structure

1158
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi2 – 9Combined sources8
Beta strandi14 – 21Combined sources8
Helixi25 – 40Combined sources16
Beta strandi48 – 52Combined sources5
Beta strandi55 – 62Combined sources8
Beta strandi65 – 71Combined sources7
Helixi77 – 95Combined sources19
Helixi100 – 105Combined sources6
Helixi107 – 117Combined sources11
Beta strandi122 – 124Combined sources3
Helixi128 – 146Combined sources19

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4P6ZX-ray3.00S1-158[»]
ProteinModelPortaliP61966
SMRiP61966
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0934 Eukaryota
COG5030 LUCA
GeneTreeiENSGT00530000062839
HOVERGENiHBG050517
InParanoidiP61966
KOiK12394
PhylomeDBiP61966
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 (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P61966-1) [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
MMRFMLLFSR QGKLRLQKWY LATSDKERKK MVRELMQVVL ARKPKMCSFL
60 70 80 90 100
EWRDLKVVYK RYASLYFCCA IEGQDNELIT LELIHRYVEL LDKYFGSVCE
110 120 130 140 150
LDIIFNFEKA YFILDEFLMG GDVQDTSKKS VLKAIEQADL LQEEDESPRS

VLEEMGLA
Length:158
Mass (Da):18,733
Last modified:June 7, 2004 - v1
Checksum:iE461937790406D8B
GO
Isoform 2 (identifier: P61966-2) [UniParc] [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     128-158: KKSVLKAIEQADLLQEEDESPRSVLEEMGLA → TFPFSH

Show »
Length:133
Mass (Da):16,011
Checksum:i3FB1FD64446EBFD6
GO

Sequence cautioni

The sequence AAD45829 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000171128 – 158KKSVL…EMGLA → TFPFSH in isoform 2. 2 PublicationsAdd BLAST31

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB015319 mRNA Translation: BAA33391.1
BT006779 mRNA Translation: AAP35425.1
AK312151 mRNA Translation: BAG35085.1
AC004876 Genomic DNA Translation: AAD45829.1 Different initiation.
CH471197 Genomic DNA Translation: EAW50199.1
BC003561 mRNA Translation: AAH03561.1
CCDSiCCDS47669.1
RefSeqiNP_001274.1, NM_001283.3 [P61966-1]
UniGeneiHs.489365

Genome annotation databases

EnsembliENST00000337619; ENSP00000336666; ENSG00000106367 [P61966-1]
ENST00000443943; ENSP00000410780; ENSG00000106367 [P61966-1]
GeneIDi1174
KEGGihsa:1174
UCSCiuc003uxv.5 human

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiAP1S1_HUMAN
AccessioniPrimary (citable) accession number: P61966
Secondary accession number(s): B2R5D8
, P82267, Q00382, Q53YA7, Q9BTN4, Q9UDW9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: March 28, 2018
This is version 133 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