Ap1s1 adaptor protein complex AP-1, sigma 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ap1s1provided by MGI
Official Full Name: adaptor protein complex AP-1, sigma 1provided by MGI
Primary source: MGI:MGI:1098244
See related: Ensembl:ENSMUSG00000004849 AllianceGenome:MGI:1098244
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: AP19
Summary: Predicted to enable clathrin adaptor activity. Acts upstream of or within retrograde transport, endosome to Golgi. Located in terminal bouton. Is active in presynapse. Human ortholog(s) of this gene implicated in MEDNIK syndrome. Orthologous to human AP1S1 (adaptor related protein complex 1 subunit sigma 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in cortex adult (RPKM 34.6), frontal lobe adult (RPKM 34.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 76.13 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (137063852..137074917, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (137034993..137046108, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

M62418 (e-PCR)
- UniSTS:124966

NoName (e-PCR)
- UniSTS:235339

NoName (e-PCR)
- UniSTS:235341

UniSTS:235344 (e-PCR)
- UniSTS:235344

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
involved_in basolateral protein secretion	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular protein transport	NAS Non-traceable Author Statement more info	PubMed
involved_in melanosome assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in platelet dense granule organization	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within retrograde transport, endosome to Golgi	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle-mediated transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within vesicle-mediated transport	TAS Traceable Author Statement 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 cytosol	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
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
located_in terminal bouton	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network	NAS Non-traceable Author Statement 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-1A

Names: HA1 19 kDa subunit; adapter-related protein complex 1 sigma-1A subunit; adapter-related protein complex 1 subunit sigma-1A; adaptor protein complex AP-1 sigma-1A subunit; adaptor protein complex AP-1 subunit sigma-1A; adaptor-related protein complex 1 subunit sigma-1A; adaptor-related protein complex AP-1, sigma 1; clathrin assembly protein complex 1 sigma-1A small chain; clathrin coat assembly protein AP19; golgi adaptor HA1/AP1 adaptin sigma-1A subunit; sigma 1a subunit of AP-1 clathrin; sigma-adaptin 1A; sigma1A-adaptin

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_001420721.1 → NP_001407650.1 AP-1 complex subunit sigma-1A isoform 2

Status: VALIDATED

Source sequence(s)

AC147986

UniProtKB/TrEMBL

D3Z0D6
NM_001420722.1 → NP_001407651.1 AP-1 complex subunit sigma-1A isoform 3

Status: VALIDATED

Source sequence(s)

AC147986

UniProtKB/TrEMBL

D3Z0D6
NM_007457.4 → NP_031483.1 AP-1 complex subunit sigma-1A isoform 1

See identical proteins and their annotated locations for NP_031483.1

Status: VALIDATED

Source sequence(s)

AC147986

Consensus CDS

CCDS39330.1

UniProtKB/Swiss-Prot

P61967

UniProtKB/TrEMBL

D3Z0D6

Related

ENSMUSP00000106709.2, ENSMUST00000111080.8

Conserved Domains (1) summary

cd14831
Location:3 → 145

AP1_sigma; AP-1 complex subunit sigma