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Ap1s2 adaptor-related protein complex 1, sigma 2 subunit [ Mus musculus (house mouse) ]

Gene ID: 108012, updated on 7-May-2024

Summary

Official Symbol
Ap1s2provided by MGI
Official Full Name
adaptor-related protein complex 1, sigma 2 subunitprovided by MGI
Primary source
MGI:MGI:1889383
See related
Ensembl:ENSMUSG00000031367 AllianceGenome:MGI:1889383
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
EST1; 1500012A13Rik
Summary
Involved in synaptic vesicle budding from endosome. Acts upstream of or within several processes, including adipose tissue development; fat cell differentiation; and visual learning. Predicted to be located in Golgi apparatus. Predicted to be part of membrane coat. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in mesonephros and urinary system. Used to study syndromic X-linked intellectual disability 5. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability 5. Orthologous to human AP1S2 (adaptor related protein complex 1 subunit sigma 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in genital fat pad adult (RPKM 36.8), CNS E18 (RPKM 7.4) and 9 other tissues See more
Orthologs
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Genomic context

See Ap1s2 in Genome Data Viewer
Location:
X F5; X 75.97 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (162691427..162716662)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (163908454..163933666)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene ring finger protein 138, retrogene 1 Neighboring gene uncharacterized protein C8orf59 homolog Neighboring gene STARR-seq mESC enhancer starr_48234 Neighboring gene STARR-positive B cell enhancer ABC_E11688 Neighboring gene predicted gene, 52456 Neighboring gene STARR-seq mESC enhancer starr_48235 Neighboring gene zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 Neighboring gene predicted gene, 38561 Neighboring gene carbonic anhydrase 5b, mitochondrial

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (1)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables clathrin adaptor activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within adipose tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within establishment of localization in cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in melanosome assembly NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in platelet dense granule organization NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in synaptic vesicle budding from endosome IDA
Inferred from Direct Assay
more info
PubMed 
involved_in synaptic vesicle budding from endosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within synaptic vesicle recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vesicle-mediated transport NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within visual learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of AP-1 adaptor complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in early endosome NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in lysosomal membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
part_of membrane coat IEA
Inferred from Electronic Annotation
more info
 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in trans-Golgi network membrane NAS
Non-traceable Author Statement
more info
PubMed 

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 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

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001290378.1NP_001277307.1  AP-1 complex subunit sigma-2 isoform 2

    See identical proteins and their annotated locations for NP_001277307.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter than isoform 1 and has a distinct C-terminus.
    Source sequence(s)
    AK045558, AK167690
    Consensus CDS
    CCDS72466.1
    UniProtKB/TrEMBL
    Q3TIV9, Q8BLQ6
    Related
    ENSMUSP00000033734.8, ENSMUST00000033734.14
    Conserved Domains (1) summary
    cd14831
    Location:2144
    AP1_sigma; AP-1 complex subunit sigma
  2. NM_001290379.1NP_001277308.1  AP-1 complex subunit sigma-2 isoform 3

    See identical proteins and their annotated locations for NP_001277308.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon and contains two alternate 3' terminal exons, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is the same length as isoform 1 but has a distinct C-terminus.
    Source sequence(s)
    AK045558
    Consensus CDS
    CCDS72465.1
    UniProtKB/Swiss-Prot
    B1B0F4, Q543R7, Q9DB50
    UniProtKB/TrEMBL
    Q8BLQ6
    Related
    ENSMUSP00000066185.9, ENSMUST00000069041.15
    Conserved Domains (1) summary
    cd14831
    Location:2144
    AP1_sigma; AP-1 complex subunit sigma
  3. NM_026887.3NP_081163.2  AP-1 complex subunit sigma-2 isoform 1

    See identical proteins and their annotated locations for NP_081163.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK045558, AK053941, BX469932
    Consensus CDS
    CCDS30514.1
    UniProtKB/TrEMBL
    Q8BLQ6, Q8BW87
    Related
    ENSMUSP00000107913.3, ENSMUST00000112294.9
    Conserved Domains (1) summary
    cd14831
    Location:2144
    AP1_sigma; AP-1 complex subunit sigma

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    162691427..162716662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006528678.5XP_006528741.1  AP-1 complex subunit sigma-2 isoform X2

    See identical proteins and their annotated locations for XP_006528741.1

    UniProtKB/TrEMBL
    Q8BLQ6
    Conserved Domains (1) summary
    cd14831
    Location:2142
    AP1_sigma; AP-1 complex subunit sigma
  2. XM_011247769.4XP_011246071.1  AP-1 complex subunit sigma-2 isoform X1

    See identical proteins and their annotated locations for XP_011246071.1

    UniProtKB/Swiss-Prot
    B1B0F4, Q543R7, Q9DB50
    UniProtKB/TrEMBL
    Q8BLQ6
    Conserved Domains (1) summary
    cd14831
    Location:2144
    AP1_sigma; AP-1 complex subunit sigma

RNA

  1. XR_387077.5 RNA Sequence