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Aaas achalasia, adrenocortical insufficiency, alacrimia [ Mus musculus (house mouse) ]

Gene ID: 223921, updated on 12-May-2024

Summary

Official Symbol
Aaasprovided by MGI
Official Full Name
achalasia, adrenocortical insufficiency, alacrimiaprovided by MGI
Primary source
MGI:MGI:2443767
See related
Ensembl:ENSMUSG00000036678 AllianceGenome:MGI:2443767
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
AAA; GL003; ADRACALA; D030041N15Rik
Summary
Acts upstream of or within fertilization and learning. Predicted to be located in cytosol; microtubule cytoskeleton; and nucleus. Predicted to be part of nuclear pore. Human ortholog(s) of this gene implicated in achalasia and triple-A syndrome. Orthologous to human AAAS (aladin WD repeat nucleoporin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 27.9), limb E14.5 (RPKM 21.3) and 28 other tissues See more
Orthologs
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Genomic context

See Aaas in Genome Data Viewer
Location:
15 F3; 15 57.49 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (102246682..102259194, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (102338247..102350759, complement)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene prefoldin 5 Neighboring gene microRNA 12187 Neighboring gene STARR-positive B cell enhancer ABC_E7422 Neighboring gene melanocyte proliferating gene 1 Neighboring gene STARR-seq mESC enhancer starr_39832 Neighboring gene predicted gene, 36246 Neighboring gene Sp7 transcription factor 7

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (1)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 fertilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mRNA transport IEA
Inferred from Electronic Annotation
more info
 
involved_in microtubule bundle formation ISO
Inferred from Sequence Orthology
more info
 
involved_in microtubule bundle formation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in mitotic spindle assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in nucleocytoplasmic transport IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within nucleocytoplasmic transport ISO
Inferred from Sequence Orthology
more info
 
involved_in nucleocytoplasmic transport NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in mitotic spindle ISO
Inferred from Sequence Orthology
more info
 
located_in mitotic spindle ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
 
part_of nuclear pore IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of nuclear pore ISO
Inferred from Sequence Orthology
more info
 
part_of nuclear pore NAS
Non-traceable Author Statement
more info
PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in spindle pole ISO
Inferred from Sequence Orthology
more info
 
located_in spindle pole ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

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_153416.2NP_700465.2  aladin

    See identical proteins and their annotated locations for NP_700465.2

    Status: VALIDATED

    Source sequence(s)
    AC163291, AK034591, AK087134, BB397636
    Consensus CDS
    CCDS27880.1
    UniProtKB/Swiss-Prot
    P58742, Q544M6
    UniProtKB/TrEMBL
    Q3TEP0, Q8R3F7
    Related
    ENSMUSP00000044604.8, ENSMUST00000041208.9
    Conserved Domains (3) summary
    COG2319
    Location:154413
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:109145
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:155413
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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_000081.7 Reference GRCm39 C57BL/6J

    Range
    102246682..102259194 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)