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Protein

AP-1 complex subunit sigma-2

Gene

AP1S2

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.

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-2
Alternative name(s):
Adaptor protein complex AP-1 subunit sigma-1B
Adaptor-related protein complex 1 subunit sigma-1B
Clathrin assembly protein complex 1 sigma-1B small chain
Golgi adaptor HA1/AP1 adaptin sigma-1B subunit
Sigma 1B subunit of AP-1 clathrin
Sigma-adaptin 1B
Sigma1B-adaptin
Gene namesi
Name:AP1S2
ORF Names:DC22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000182287.13
HGNCiHGNC:560 AP1S2
MIMi300629 gene
neXtProtiNX_P56377

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

Pettigrew syndrome (PGS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by mental retardation and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:304340

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi8905
MalaCardsiAP1S2
MIMi304340 phenotype
OpenTargetsiENSG00000182287
Orphaneti85335 Fried syndrome
1568 X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
PharmGKBiPA24851

Polymorphism and mutation databases

DMDMi3023308

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001937991 – 157AP-1 complex subunit sigma-2Add BLAST157

Proteomic databases

EPDiP56377
PaxDbiP56377
PeptideAtlasiP56377
PRIDEiP56377

PTM databases

iPTMnetiP56377
PhosphoSitePlusiP56377

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiENSG00000182287
CleanExiHS_AP1S2
ExpressionAtlasiP56377 baseline and differential
GenevisibleiP56377 HS

Organism-specific databases

HPAiHPA049894
HPA060945

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). Binds to MUC1.

Binary interactionsi

WithEntry#Exp.IntActNotes
AP1G1O43747-27EBI-1054374,EBI-10185819

Protein-protein interaction databases

BioGridi114419, 39 interactors
CORUMiP56377
IntActiP56377, 24 interactors
STRINGi9606.ENSP00000328789

Structurei

3D structure databases

ProteinModelPortaliP56377
SMRiP56377
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0934 Eukaryota
COG5030 LUCA
GeneTreeiENSGT00530000062839
HOGENOMiHOG000185227
HOVERGENiHBG050517
InParanoidiP56377
KOiK12394
PhylomeDBiP56377
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: P56377-1) [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
MQFMLLFSRQ GKLRLQKWYV PLSDKEKKKI TRELVQTVLA RKPKMCSFLE
60 70 80 90 100
WRDLKIVYKR YASLYFCCAI EDQDNELITL EIIHRYVELL DKYFGSVCEL
110 120 130 140 150
DIIFNFEKAY FILDEFLLGG EVQETSKKNV LKAIEQADLL QEEAETPRSV

LEEIGLT
Length:157
Mass (Da):18,615
Last modified:July 15, 1998 - v1
Checksum:iDD9F59119909D89C
GO
Isoform 2 (identifier: P56377-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPAGCPPHSTTASLPQHGDRGFPFAAAAAAGQAPPRPRPAAAM
     143-157: EAETPRSVLEEIGLT → KTETMYHSKSFIGFKKAY

Note: No experimental confirmation available.
Show »
Length:202
Mass (Da):23,225
Checksum:i69C7E1AE4CB98F02
GO

Sequence cautioni

The sequence AAG44595 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1M → L in AAG44595 (Ref. 2) Curated1
Sequence conflicti72 – 74DQD → ESRN in AAC72946 (Ref. 7) Curated3
Sequence conflicti96 – 98SVC → QCL in AAC72946 (Ref. 7) Curated3
Sequence conflicti143E → EE in AAG44595 (Ref. 2) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0536711M → MPAGCPPHSTTASLPQHGDR GFPFAAAAAAGQAPPRPRPA AAM in isoform 2. 1 Publication1
Alternative sequenceiVSP_053672143 – 157EAETP…EIGLT → KTETMYHSKSFIGFKKAY in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB015320 mRNA Translation: BAA33392.1
AF251295 mRNA Translation: AAG44595.1 Different initiation.
BT006738 mRNA Translation: AAP35384.1
AK299921 mRNA Translation: BAG61756.1
AC004106 Genomic DNA No translation available.
BC001117 mRNA Translation: AAH01117.1
BC071867 mRNA Translation: AAH71867.1
AF091077 mRNA Translation: AAC72946.1
CCDSiCCDS14173.1 [P56377-1]
RefSeqiNP_003907.3, NM_003916.4 [P56377-1]
XP_011543901.1, XM_011545599.1 [P56377-2]
XP_016885414.1, XM_017029925.1 [P56377-2]
UniGeneiHs.121592

Genome annotation databases

EnsembliENST00000329235; ENSP00000328789; ENSG00000182287 [P56377-1]
GeneIDi8905
KEGGihsa:8905

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiAP1S2_HUMAN
AccessioniPrimary (citable) accession number: P56377
Secondary accession number(s): B4DSU4, O95326, Q9H2N6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1998
Last modified: May 23, 2018
This is version 170 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

Documents

  1. Human chromosome X
    Human chromosome X: 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. SIMILARITY comments
    Index of protein domains and families

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