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

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: human all
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Genomic context

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_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1190E (e-PCR)
- UniSTS:46161

33.MMHAP86FRC12.seq (e-PCR)
- UniSTS:124055

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

General protein information

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Preferred Names: aladin

Names: adracalin

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)

NM_153416.2 → NP_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:154 → 413

WD40; WD40 repeat [General function prediction only]

sd00039
Location:109 → 145

7WD40; WD40 repeat [structural motif]

cl02567
Location:155 → 413

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 ...