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

Gene ID: 300259, updated on 2-Nov-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, Nov 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 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
  
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 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
  
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

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

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

    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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