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

Gene ID: 100317, updated on 12-May-2024

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, Apr 2022]
Expression
Ubiquitous expression in duodenum adult (RPKM 33.2), small intestine adult (RPKM 29.2) and 28 other tissues See more
Orthologs
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Genomic context

See AU040320 in Genome Data Viewer
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_000070.7Genomic Context describing neighboring genes Neighboring gene transcription factor AP-2, epsilon Neighboring gene STARR-positive B cell enhancer mm9_chr4:126430552-126430853 Neighboring gene neurochondrin Neighboring gene predicted gene, 24161 Neighboring gene STARR-positive B cell enhancer ABC_E4667 Neighboring gene predicted gene, 25604 Neighboring gene zinc finger, MYM-type 4 Neighboring gene STARR-seq mESC enhancer starr_11411 Neighboring gene STARR-positive B cell enhancer ABC_E7989 Neighboring gene STARR-seq mESC enhancer starr_11413 Neighboring gene STARR-seq mESC enhancer starr_11417 Neighboring gene STARR-seq mESC enhancer starr_11418 Neighboring gene splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) Neighboring gene 60S ribosomal protein L21 pseudogene Neighboring gene zinc finger, MYM domain containing 1

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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

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)

  1. NM_001035525.1NP_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:503591
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    cd00146
    Location:692781
    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:885910
    EGF_2; EGF-like domain
  2. NM_001035526.1NP_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:503591
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    cd00146
    Location:692781
    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:885910
    EGF_2; EGF-like domain
  3. NM_001355196.1NP_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:482570
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam07974
    Location:869889
    EGF_2; EGF-like domain
    pfam18911
    Location:561650
    PKD_4; PKD domain
  4. NM_133886.2NP_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:503591
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    cd00146
    Location:692781
    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:885910
    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

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    126647331..126763487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017319895.3XP_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:503591
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    cd00146
    Location:692781
    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:885910
    EGF_2; EGF-like domain
  2. XM_017319894.2XP_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:503591
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    cd00146
    Location:692781
    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:885910
    EGF_2; EGF-like domain
  3. XM_017319898.3XP_017175387.1  dyslexia-associated protein KIAA0319-like protein isoform X2

    Conserved Domains (3) summary
    smart00089
    Location:482570
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam07974
    Location:869889
    EGF_2; EGF-like domain
    pfam18911
    Location:561650
    PKD_4; PKD domain
  4. XM_017319896.3XP_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:503591
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    cd00146
    Location:692781
    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:885910
    EGF_2; EGF-like domain
  5. XM_036163552.1XP_036019445.1  dyslexia-associated protein KIAA0319-like protein isoform X2

    Conserved Domains (3) summary
    smart00089
    Location:482570
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    pfam07974
    Location:869889
    EGF_2; EGF-like domain
    pfam18911
    Location:561650
    PKD_4; PKD domain
  6. XM_017319897.2XP_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:503591
    PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
    cd00146
    Location:692781
    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:885910
    EGF_2; EGF-like domain