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Protein

AP-1 complex subunit sigma-1A

Gene

AP1S1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 - Molecular functioni

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

HGNCiHGNC:559. AP1S1.

Subcellular locationi

GO - Cellular componenti

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).

Protein-protein interaction databases

BioGridi107588. 20 interactors.
IntActiP61966. 5 interactors.
MINTiMINT-5006039.
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.
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: August 30, 2017
This is version 128 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

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families