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    Aaas aladin WD repeat nucleoporin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 300259, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Aaasprovided by RGD
    Official Full Name
    aladin WD repeat nucleoporinprovided by RGD
    Primary source
    RGD:1308701
    See related
    EnsemblRapid:ENSRNOG00000013445 AllianceGenome:RGD:1308701
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to be involved in microtubule bundle formation; mitotic spindle assembly; and nucleocytoplasmic transport. Predicted to act 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, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 61.9), Testes (RPKM 50.4) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Aaas in Genome Data Viewer
    Location:
    7q36
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 7 NC_086025.1 (135342901..135362545, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 7 NC_051342.1 (133464315..133483961, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 7 NC_005106.4 (143937198..143956668, complement)

    Chromosome 7 - NC_086025.1Genomic Context describing neighboring genes Neighboring gene prefoldin subunit 5 Neighboring gene MYG1 exonuclease Neighboring gene Sp7 transcription factor Neighboring gene Sp1 transcription factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Huebner A, et al. Mol Cell Biol, 2006 Mar. PMID 16479006, Free PMC Article
    2. Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. Brooks BP, et al. Clin Genet, 2005 Sep. PMID 16098009
    3. Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation. Storr HL, et al. Neuroscience, 2005. PMID 15680696
    4. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Cronshaw JM, et al. Proc Natl Acad Sci U S A, 2003 May 13. PMID 12730363, Free PMC Article
    5. The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation. Carvalhal S, et al. Mol Biol Cell, 2015 Oct 1. PMID 26246606, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within fertilization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glutathione metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within glutathione metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within learning ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in microtubule bundle formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic spindle assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within multicellular organism growth 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 response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome 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 mitotic spindle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    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
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in spindle pole ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    aladin
    Names
    achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)

    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_001106795.1 → NP_001100265.1  aladin

      See identical proteins and their annotated locations for NP_001100265.1

      Status: PROVISIONAL

      Source sequence(s)
      CH474035
      UniProtKB/TrEMBL
      A0A8I5YCH6, A6KCU9, D3ZNS8
      Related
      ENSRNOP00000018808.6, ENSRNOT00000018809.8
      Conserved Domains (2) summary
      sd00039
      Location:157 → 193
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:155 → 368
      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_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086025.1 Reference GRCr8

      Range
      135342901..135362545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006242387.4 → XP_006242449.1  aladin isoform X6

      See identical proteins and their annotated locations for XP_006242449.1

      UniProtKB/TrEMBL
      A0A8I5YCH6, A6KCU9, D3ZNS8
      Conserved Domains (2) summary
      sd00039
      Location:157 → 193
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:155 → 368
      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 ...

    2. XM_063263388.1 → XP_063119458.1  aladin isoform X2

      UniProtKB/TrEMBL
      A0A8I5YCH6

    3. XM_063263387.1 → XP_063119457.1  aladin isoform X1

      UniProtKB/TrEMBL
      A0A8I5YCH6

    4. XM_063263389.1 → XP_063119459.1  aladin isoform X3

      UniProtKB/TrEMBL
      A0A8I5YCH6
      Related
      ENSRNOP00000102972.1, ENSRNOT00000146313.1

    5. XM_008765705.4 → XP_008763927.1  aladin isoform X5

      UniProtKB/TrEMBL
      A0A8I5YCH6
      Conserved Domains (3) summary
      COG2319
      Location:162 → 352
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:165 → 201
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:163 → 376
      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 ...

    6. XM_008765704.3 → XP_008763926.1  aladin isoform X4

      UniProtKB/TrEMBL
      A0A8I5YCH6
      Conserved Domains (3) summary
      COG2319
      Location:168 → 358
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:171 → 207
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:169 → 382
      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 ...

    RNA

    1. XR_010052964.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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