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    Aagab alpha- and gamma-adaptin binding protein [ Mus musculus (house mouse) ]

    Gene ID: 66939, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Aagabprovided by MGI
    Official Full Name
    alpha- and gamma-adaptin binding proteinprovided by MGI
    Primary source
    MGI:MGI:1914189
    See related
    Ensembl:ENSMUSG00000037257 AllianceGenome:MGI:1914189
    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
    p34; 2310007F21Rik
    Summary
    Predicted to act upstream of or within protein transport. Predicted to be located in cytosol and nuclear speck. Is expressed in dorsal root ganglion; midbrain ventricular layer; and telencephalon ventricular layer. Human ortholog(s) of this gene implicated in punctate palmoplantar keratoderma type I. Orthologous to human AAGAB (alpha and gamma adaptin binding protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thymus adult (RPKM 19.2), ovary adult (RPKM 16.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 C; 9 34.19 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (63509897..63551872)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (63602630..63644590)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 16759 Neighboring gene IQ motif containing H Neighboring gene STARR-seq mESC enhancer starr_24397 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 17 pseudogene Neighboring gene STARR-seq mESC enhancer starr_24398 Neighboring gene STARR-seq mESC enhancer starr_24399 Neighboring gene predicted gene, 39358 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:63458940-63459049 Neighboring gene SMAD family member 3 Neighboring gene STARR-positive B cell enhancer ABC_E6753 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:63568712-63568904 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:63585488-63585725 Neighboring gene STARR-seq mESC enhancer starr_24405 Neighboring gene predicted gene, 51710 Neighboring gene predicted gene, 35941

    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. Mammalian mediator of transcriptional regulation and its possible role as an end-point of signal transduction pathways. Jiang YW, et al. Proc Natl Acad Sci U S A, 1998 Jul 21. PMID 9671713, Free PMC Article
    2. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    3. A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Hansen J, et al. Proc Natl Acad Sci U S A, 2003 Aug 19. PMID 12904583, Free PMC Article
    4. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (16) 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) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    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 biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    alpha- and gamma-adaptin-binding protein p34

    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_001357323.1 → NP_001344252.1  alpha- and gamma-adaptin-binding protein p34 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      CT010509
      Conserved Domains (1) summary
      pfam10199
      Location:155 → 294
      Adaptin_binding; Alpha and gamma adaptin binding protein p34

    2. NM_025857.3 → NP_080133.1  alpha- and gamma-adaptin-binding protein p34 isoform 1

      See identical proteins and their annotated locations for NP_080133.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      CT010509
      Consensus CDS
      CCDS23271.1
      UniProtKB/Swiss-Prot
      Q3TW04, Q8R2R3, Q9CV78
      Related
      ENSMUSP00000048595.8, ENSMUST00000041551.9
      Conserved Domains (1) summary
      pfam10199
      Location:155 → 295
      Adaptin_binding; Alpha and gamma adaptin binding protein p34

    RNA

    1. NR_151671.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      CT010509

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      63509897..63551872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_379442.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R2R3.2 GenPept UniProtKB/Swiss-Prot:Q8R2R3

    Gene LinkOut

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

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