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

Gene ID: 66939, updated on 2-Nov-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 be involved in 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, Nov 2024]
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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See Aagab in Genome Data Viewer
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 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
  
involved_in 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 IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear speck IEA
Inferred from Electronic Annotation
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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