Ap5s1 adaptor-related protein 5 complex, sigma 1 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ap5s1provided by MGI
Official Full Name: adaptor-related protein 5 complex, sigma 1 subunitprovided by MGI
Primary source: MGI:MGI:1916846
See related: Ensembl:ENSMUSG00000068264 AllianceGenome:MGI:1916846
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: sigma5; 0610038L13Rik; 2310035K24Rik
Summary: Predicted to be involved in double-strand break repair via homologous recombination and endosomal transport. Predicted to act upstream of or within DNA repair and protein transport. Predicted to be located in nucleoplasm. Predicted to be part of AP-type membrane coat adaptor complex. Predicted to be active in cytosol; late endosome; and lysosome. Orthologous to human AP5S1 (adaptor related protein complex 5 subunit sigma 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in duodenum adult (RPKM 20.9), large intestine adult (RPKM 17.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F1; 2 63.29 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (131052280..131055434)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (131210360..131213514)

Chromosome 2 - NC_000068.8 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?

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Variation

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Alleles

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

Endonuclease-mediated (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in endosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosomal transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of AP-5 adaptor complex	NAS Non-traceable Author Statement more info	PubMed
part_of AP-type membrane coat adaptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of AP-type membrane coat adaptor complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
is_active_in late endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in late endosome	NAS Non-traceable Author Statement more info	PubMed
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: AP-5 complex subunit sigma-1

Names: adapter-related protein complex 5 sigma subunit; adaptor-related protein complex 5 sigma subunit; protein C20orf29 homolog

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_001291031.1 → NP_001277960.1 AP-5 complex subunit sigma-1 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an additional segment that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AK002807, AW060727, BY264259, DV061712

Consensus CDS

CCDS71148.1

UniProtKB/TrEMBL

A2ANC6

Related

ENSMUSP00000105837.2, ENSMUST00000110208.8

Conserved Domains (1) summary

pfam15001
Location:1 → 193

AP-5_subunit_s1; AP-5 complex subunit sigma-1
NM_001291032.1 → NP_001277961.1 AP-5 complex subunit sigma-1 isoform c

See identical proteins and their annotated locations for NP_001277961.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate 3' terminal exon, and it thus differs in its 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AK002807, AK009634, AW060727, BY264259

Consensus CDS

CCDS71147.1

UniProtKB/Swiss-Prot

A2ANC8, Q9D742

UniProtKB/TrEMBL

Q8CF73

Related

ENSMUSP00000105839.2, ENSMUST00000110210.8

Conserved Domains (1) summary

pfam15001
Location:1 → 136

AP-5_subunit_s1; AP-5 complex subunit sigma-1
NM_001355593.1 → NP_001342522.1 AP-5 complex subunit sigma-1 isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (5) retains an intron and uses an alternate splice junction in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AL808128, CX220929

Consensus CDS

CCDS89557.1

UniProtKB/TrEMBL

A2ANC5

Related

ENSMUSP00000105835.2, ENSMUST00000110206.2

Conserved Domains (1) summary

pfam15001
Location:1 → 59

AP-5_subunit_s1; AP-5 complex subunit sigma-1
NM_027129.3 → NP_081405.2 AP-5 complex subunit sigma-1 isoform a

See identical proteins and their annotated locations for NP_081405.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AK002807, AK009634, AW060727, BY264259

Consensus CDS

CCDS16759.1

UniProtKB/TrEMBL

Q80V29

Related

ENSMUSP00000086933.6, ENSMUST00000089506.12

Conserved Domains (1) summary

pfam15001
Location:1 → 136

AP-5_subunit_s1; AP-5 complex subunit sigma-1

RNA

NR_110992.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate internal exon and includes an additional segment in the 3' region, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF.

Source sequence(s)

AK002807, AW060727, BY264259, CX204398