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

    Gene ID: 69596, updated on 9-Dec-2024

    Summary

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    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 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, Dec 2024]
    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

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    See Ap5s1 in Genome Data Viewer
    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_000068.8Genomic Context describing neighboring genes Neighboring gene centromere protein B Neighboring gene cell division cycle 25B Neighboring gene STARR-positive B cell enhancer mm9_chr2:131026522-131026822 Neighboring gene STARR-positive B cell enhancer ABC_E10146 Neighboring gene STARR-seq mESC enhancer starr_05703 Neighboring gene STARR-positive B cell enhancer ABC_E4499 Neighboring gene mitochondrial antiviral signaling protein Neighboring gene STARR-positive B cell enhancer ABC_E5984 Neighboring gene STARR-seq mESC enhancer starr_05706 Neighboring gene pantothenate kinase 2 Neighboring gene STARR-seq mESC enhancer starr_05707 Neighboring gene microRNA 103-2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The fifth adaptor protein complex. Hirst J, et al. PLoS Biol, 2011 Oct. PMID 22022230, Free PMC Article
    2. The human (PEDB) and mouse (mPEDB) Prostate Expression Databases. Nelson PS, et al. Nucleic Acids Res, 2002 Jan 1. PMID 11752298, Free PMC Article
    3. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    4. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    involved_in endosomal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in 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
    		  
    part_of AP-type membrane coat adaptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in late endosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 lysosome ISS
    Inferred from Sequence or Structural Similarity
    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)

    1. 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

    2. 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

    3. 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

    4. 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

    1. 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

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      131052280..131055434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D742.1 GenPept UniProtKB/Swiss-Prot:Q9D742

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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