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AP1S2 adaptor related protein complex 1 subunit sigma 2 [ Homo sapiens (human) ]

Gene ID: 8905, updated on 7-Jun-2020

Summary

Official Symbol
AP1S2provided by HGNC
Official Full Name
adaptor related protein complex 1 subunit sigma 2provided by HGNC
Primary source
HGNC:HGNC:560
See related
Ensembl:ENSG00000182287 MIM:300629
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PGS; DC22; MRX59; MRXS5; MRXSF; MRXS21; SIGMA1B
Summary
Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Expression
Ubiquitous expression in heart (RPKM 13.6), endometrium (RPKM 13.6) and 23 other tissues See more
Orthologs

Genomic context

See AP1S2 in Genome Data Viewer
Location:
Xp22.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (15825806..15854966, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15843929..15873137, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene collectrin, amino acid transport regulator Neighboring gene CA5BP1-CA5B readthrough Neighboring gene carbonic anhydrase 5B pseudogene 1 Neighboring gene carbonic anhydrase 5B Neighboring gene inactivation escape 2 Neighboring gene zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 Neighboring gene RNA, U5F small nuclear 7, pseudogene Neighboring gene SET pseudogene 15

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Pettigrew syndrome
MedGen: C0796254 OMIM: 304340 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-06-14)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-14)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env The cytoplasmic domain (residues 707-856) of HIV-1 gp41 interacts with whole clathrin-associated AP-1 and AP-2 adaptor complexes PubMed
env The highly conserved C-terminal dileucine motif (residues 851-856) in the cytosolic domain of HIV-1 gp41 interacts with clathrin-associated AP-1 adaptor complexes PubMed
Nef nef Adaptor-related protein complex 1 (AP-1) is necessary for cross-presentation by MHC-I HLA-A and HLA-B molecules containing a cytoplasmic tail tyrosine signal and that HIV-1 Nef inhibits the cross-presentation in antigen-presenting cells PubMed
nef Exogenous Nef and TNF-alpha synergistically activate NF-kappaB and AP-1 resulting in enhancing viral replication in both chronically infected promonocytic cells and acutely infected primary macrophages PubMed
nef The dileucine motif (residues 164-165) in HIV-1 Nef is required for binding to AP-1 complexes and stabilizing their association with membranes PubMed
nef HIV-1 Nef stabilizes AP-1 complexes on endosomal membranes after ADP-ribosylation factor-1 (ARF1) -dependent attachment PubMed
nef A leucine-based motif near the C-terminus of HIV-1 Nef interacts with AP-1 complexes; residues 164 and 165 in Nef are required for the interaction with AP-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of defense response to virus by virus TAS
Traceable Author Statement
more info
 
vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
AP-type membrane coat adaptor complex TAS
Traceable Author Statement
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane TAS
Traceable Author Statement
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal membrane TAS
Traceable Author Statement
more info
 
trans-Golgi network membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
AP-1 complex subunit sigma-2
Names
adapter-related protein complex 1 sigma-1B subunit
adaptor protein complex AP-1 sigma-1B subunit
adaptor related protein complex 1 sigma 2 subunit
adaptor-related protein complex 1 subunit sigma-1B
clathrin adaptor complex AP1 sigma 1B subunit
clathrin assembly protein complex 1 sigma-1B small chain
golgi adaptor HA1/AP1 adaptin sigma-1B subunit
sigma1B-adaptin

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009274.2 RefSeqGene

    Range
    5165..34172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001272071.2NP_001259000.1  AP-1 complex subunit sigma-2 isoform 1

    See identical proteins and their annotated locations for NP_001259000.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC004106, AK312594
    Consensus CDS
    CCDS75958.1
    UniProtKB/TrEMBL
    F6SFB5
    Related
    ENSP00000500695.1, ENST00000672987.1
    Conserved Domains (1) summary
    cd14831
    Location:2144
    AP1_sigma; AP-1 complex subunit sigma
  2. NM_001368994.1NP_001355923.1  AP-1 complex subunit sigma-2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC004106, AK296135
    Related
    ENSP00000389474.2, ENST00000450644.2
    Conserved Domains (1) summary
    cd14831
    Location:2142
    AP1_sigma; AP-1 complex subunit sigma
  3. NM_001369007.1NP_001355936.1  AP-1 complex subunit sigma-2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC004106, AF251295, AK299921
    Related
    ENSP00000369645.1, ENST00000380291.5
    Conserved Domains (1) summary
    cd14831
    Location:2144
    AP1_sigma; AP-1 complex subunit sigma
  4. NM_001369008.1NP_001355937.1  AP-1 complex subunit sigma-2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC004106, AK130075, AK302908, AK312594
    Related
    ENSP00000500066.1, ENST00000673591.1
    Conserved Domains (1) summary
    cd14831
    Location:2143
    AP1_sigma; AP-1 complex subunit sigma
  5. NM_003916.5NP_003907.3  AP-1 complex subunit sigma-2 isoform 2

    See identical proteins and their annotated locations for NP_003907.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame 3' exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC004106, BC001117, DC401898
    Consensus CDS
    CCDS14173.1
    UniProtKB/Swiss-Prot
    P56377
    UniProtKB/TrEMBL
    Q549M9
    Related
    ENSP00000328789.2, ENST00000329235.6
    Conserved Domains (1) summary
    cd14831
    Location:2144
    AP1_sigma; AP-1 complex subunit sigma

RNA

  1. NR_160932.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004106, AK296135, DC391819
  2. NR_160933.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004106

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    15825806..15854966 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_247289.3 RNA Sequence

  2. XR_002958809.1 RNA Sequence

  3. XR_001755741.2 RNA Sequence

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