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

Summary

Official Symbol: Aaasprovided by RGD
Official Full Name: aladin WD repeat nucleoporinprovided by RGD
Primary source: RGD:1308701
See related: Ensembl: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, Apr 2022]
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

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_086025.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Markers

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

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)

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, ENSRNOT00000018809.7

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

NC_086025.1 Reference GRCr8

Range

135342901..135362545 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSRNOP00000077779.1

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

UniProtKB/TrEMBL

A0A8I5YCH6
XM_063263387.1 → XP_063119457.1 aladin isoform X1

UniProtKB/TrEMBL

A0A8I5YCH6
XM_063263389.1 → XP_063119459.1 aladin isoform X3

UniProtKB/TrEMBL

A0A8I5YCH6
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 ...
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 ...