AU040320 expressed sequence AU040320 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: AU040320provided by MGI
Official Full Name: expressed sequence AU040320provided by MGI
Primary source: MGI:MGI:2140475
See related: Ensembl:ENSMUSG00000028830 AllianceGenome:MGI:2140475
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: AAVR; Kiaa0319l; A730047D20Rik
Summary: Acts upstream of or within several processes, including flagellated sperm motility; proacrosomal vesicle fusion; and receptor-mediated endocytosis of virus by host cell. Located in trans-Golgi network. Is expressed in gut; nasal cavity epithelium; and nervous system. Orthologous to human KIAA0319L (KIAA0319 like). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in duodenum adult (RPKM 33.2), small intestine adult (RPKM 29.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.2; 4 60.94 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (126647331..126763487)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (126753547..126869694)

Chromosome 4 - NC_000070.7 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: 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?

results suggest AU040320 may be necessary for the normal formation of proacrosomal vesicles or the recruitment of cargo proteins required for downstream events leading to acrosomal fusion.
Title: AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice.
Analyses of Kiaa0319L (AU040320) and double Kiaa0319;AU040320 knockouts (dKO) revealed no evidence for impaired cortical lamination, neuronal migration, neurogenesis or other anatomical abnormalities. However, dKO mice displayed an auditory deficit in a behavioral gap-in-noise detection task. Recordings of click-evoked auditory brainstem responses revealed suprathreshold deficits in wave III amplitude in AU040320-KO mice.
Title: Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing.
genetic ablation of AAVR renders a wide range of mammalian cell types highly resistant to AAV2 infection
Title: An essential receptor for adeno-associated virus infection.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation
Gene trapped (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:235028 (e-PCR)
- UniSTS:235028

AU040320 (e-PCR)
- UniSTS:159296

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AW493829 (e-PCR)
- UniSTS:179066

D4Mit73 (e-PCR), detects polymorphism
- UniSTS:130191

AI480785 (e-PCR)
- UniSTS:164256

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 acrosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron migration	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron migration	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proacrosomal vesicle fusion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within receptor-mediated endocytosis of virus by host cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to auditory stimulus	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to auditory stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dyslexia-associated protein KIAA0319-like protein

Names: adeno-associated virus receptor; likely ortholog of H. sapiens polycystic kidney disease 1-like (PKD1-like)

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_001035525.1 → NP_001030602.1 dyslexia-associated protein KIAA0319-like protein isoform 1

See identical proteins and their annotated locations for NP_001030602.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) encodes the longer protein (isoform 1). Both variants 1 and 2 encode the same isoform.

Source sequence(s)

AK049570, AK084668

Consensus CDS

CCDS18660.1

UniProtKB/TrEMBL

Z4YK56

Related

ENSMUSP00000099668.4, ENSMUST00000102608.10

Conserved Domains (3) summary

smart00089
Location:503 → 591

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

cd00146
Location:692 → 781

PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

pfam07974
Location:885 → 910

EGF_2; EGF-like domain
NM_001035526.1 → NP_001030603.1 dyslexia-associated protein KIAA0319-like protein isoform 1

See identical proteins and their annotated locations for NP_001030603.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 2. Both variants 1 and 2 encode the same isoform.

Source sequence(s)

AK043006, AK084668, BY289654

Consensus CDS

CCDS18660.1

UniProtKB/TrEMBL

Z4YK56

Related

ENSMUSP00000099667.4, ENSMUST00000102607.10

Conserved Domains (3) summary

smart00089
Location:503 → 591

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

cd00146
Location:692 → 781

PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

pfam07974
Location:885 → 910

EGF_2; EGF-like domain
NM_001355196.1 → NP_001342125.1 dyslexia-associated protein KIAA0319-like protein isoform 3

Status: VALIDATED

Source sequence(s)

AI847875, AK043006, AK161493, AL606908, BY289654, DV654583

Conserved Domains (3) summary

smart00089
Location:482 → 570

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

pfam07974
Location:869 → 889

EGF_2; EGF-like domain

pfam18911
Location:561 → 650

PKD_4; PKD domain
NM_133886.2 → NP_598647.1 dyslexia-associated protein KIAA0319-like protein isoform 2

See identical proteins and their annotated locations for NP_598647.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences (compared to variant 2), one of which results in a frameshift. This results in a shorter isoform (2) with a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK161493, AL606908, BM942797, BY289654, BY308757, CA540237, CB249000, CB527694

Consensus CDS

CCDS18661.1

UniProtKB/Swiss-Prot

A2A790, Q3TTA3, Q8BHR5, Q8BHU7, Q8BHZ3, Q8K135, Q8VBZ9

Related

ENSMUSP00000037802.5, ENSMUST00000047431.11

Conserved Domains (3) summary

smart00089
Location:503 → 591

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

cd00146
Location:692 → 781

PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

pfam07974
Location:885 → 910

EGF_2; EGF-like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

126647331..126763487

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017319895.3 → XP_017175384.1 dyslexia-associated protein KIAA0319-like protein isoform X1

UniProtKB/Swiss-Prot

A2A790, Q3TTA3, Q8BHR5, Q8BHU7, Q8BHZ3, Q8K135, Q8VBZ9

Conserved Domains (3) summary

smart00089
Location:503 → 591

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

cd00146
Location:692 → 781

PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

pfam07974
Location:885 → 910

EGF_2; EGF-like domain
XM_017319894.2 → XP_017175383.1 dyslexia-associated protein KIAA0319-like protein isoform X1

UniProtKB/Swiss-Prot

A2A790, Q3TTA3, Q8BHR5, Q8BHU7, Q8BHZ3, Q8K135, Q8VBZ9

Conserved Domains (3) summary

smart00089
Location:503 → 591

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

cd00146
Location:692 → 781

PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

pfam07974
Location:885 → 910

EGF_2; EGF-like domain
XM_017319898.3 → XP_017175387.1 dyslexia-associated protein KIAA0319-like protein isoform X2

Conserved Domains (3) summary

smart00089
Location:482 → 570

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

pfam07974
Location:869 → 889

EGF_2; EGF-like domain

pfam18911
Location:561 → 650

PKD_4; PKD domain
XM_017319896.3 → XP_017175385.1 dyslexia-associated protein KIAA0319-like protein isoform X1

UniProtKB/Swiss-Prot

A2A790, Q3TTA3, Q8BHR5, Q8BHU7, Q8BHZ3, Q8K135, Q8VBZ9

Conserved Domains (3) summary

smart00089
Location:503 → 591

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

cd00146
Location:692 → 781

PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

pfam07974
Location:885 → 910

EGF_2; EGF-like domain
XM_036163552.1 → XP_036019445.1 dyslexia-associated protein KIAA0319-like protein isoform X2

Conserved Domains (3) summary

smart00089
Location:482 → 570

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

pfam07974
Location:869 → 889

EGF_2; EGF-like domain

pfam18911
Location:561 → 650

PKD_4; PKD domain
XM_017319897.2 → XP_017175386.1 dyslexia-associated protein KIAA0319-like protein isoform X1

UniProtKB/Swiss-Prot

A2A790, Q3TTA3, Q8BHR5, Q8BHU7, Q8BHZ3, Q8K135, Q8VBZ9

Conserved Domains (3) summary

smart00089
Location:503 → 591

PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins

cd00146
Location:692 → 781

PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

pfam07974
Location:885 → 910

EGF_2; EGF-like domain