aaas achalasia, adrenocortical insufficiency, alacrimia [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: aaasprovided by ZNC
Official Full Name: achalasia, adrenocortical insufficiency, alacrimiaprovided by ZNC
Primary source: ZFIN:ZDB-GENE-030912-4
See related: Ensembl:ENSDARG00000102274 AllianceGenome:ZFIN:ZDB-GENE-030912-4
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:85873
Summary: Predicted to be involved in nucleocytoplasmic transport. Predicted to be part of nuclear pore. Is expressed in head. 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]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 9

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	9	NC_007120.7 (205245..249439, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	9	NC_007120.6 (214837..216894, complement)

Chromosome 9 - NC_007120.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI416340 (e-PCR)
- UniSTS:206623

G45220 (e-PCR)
- UniSTS:106022

fb37f12.x1 (e-PCR)
- UniSTS:190534

fk46c06.x1 (e-PCR)
- UniSTS:201034

z640 (e-PCR), detects polymorphism
- UniSTS:238939

fi05d01.x1 (e-PCR)
- UniSTS:204425

fj92c04.x1 (e-PCR)
- UniSTS:200338

G47407 (e-PCR)
- UniSTS:108187

G45364 (e-PCR)
- UniSTS:106166

fj24g02.y1 (e-PCR)
- UniSTS:198862

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in nucleocytoplasmic transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: aladin

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_213225.2 → NP_998390.1 aladin

See identical proteins and their annotated locations for NP_998390.1

Status: VALIDATED

Source sequence(s)

CABZ01067556, CABZ01067557, CU469570

UniProtKB/TrEMBL

A0A0R4IC28, A0A8M1PET8, Q6NW98

Related

ENSDARP00000130151.2, ENSDART00000163068.2

Conserved Domains (3) summary

COG2319
Location:106 → 401

WD40; WD40 repeat [General function prediction only]

sd00039
Location:146 → 180

7WD40; WD40 repeat [structural motif]

cl02567
Location:142 → 396

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 ...