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

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: human all
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Genomic context

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AP-1/sigma1A-ArfGAP1-Rabex-5 complex formation leads to more endosomal Rabex-5 and enhanced, Rab5(GTP)-stimulated Vps34 PI3-kinase activity, which is essential for multivesicular body endosome formation.
Title: AP-1/σ1A and AP-1/σ1B adaptor-proteins differentially regulate neuronal early endosome maturation via the Rab5/Vps34-pathway.
Synaptic vesicle reformation in cultured neurons from adaptor protein complex AP-1 sigma-1B-deficient mice is reduced upon stimulation, and large endosomal intermediates accumulate.
Title: AP-1/sigma1B-adaptin mediates endosomal synaptic vesicle recycling, learning and memory.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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)

NM_001290378.1 → NP_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:2 → 144

AP1_sigma; AP-1 complex subunit sigma
NM_001290379.1 → NP_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:2 → 144

AP1_sigma; AP-1 complex subunit sigma
NM_026887.3 → NP_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:2 → 144

AP1_sigma; AP-1 complex subunit sigma