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

    Gene ID: 100317, updated on 31-Jan-2019

    Summary

    Official Symbol
    AU040320provided by MGI
    Official Full Name
    expressed sequence AU040320provided by MGI
    Primary source
    MGI:MGI:2140475
    See related
    Ensembl:ENSMUSG00000028830
    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
    Expression
    Ubiquitous expression in duodenum adult (RPKM 33.2), small intestine adult (RPKM 29.2) and 28 other tissues See more
    Orthologs

    Genomic context

    See AU040320 in Genome Data Viewer
    Location:
    4; 4 D2.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 4 NC_000070.6 (126753555..126869694)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (126430799..126546938)

    Chromosome 4 - NC_000070.6Genomic Context describing neighboring genes Neighboring gene proteasome (prosome, macropain) subunit, beta type 2 Neighboring gene transcription factor AP-2, epsilon Neighboring gene neurochondrin Neighboring gene zinc finger, MYM-type 4 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)

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    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)

    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/Swiss-Prot
      Q8K135
      UniProtKB/TrEMBL
      Z4YK56
      Related
      ENSMUSP00000099668.3, ENSMUST00000102608.9
      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/Swiss-Prot
      Q8K135
      UniProtKB/TrEMBL
      Z4YK56
      Related
      ENSMUSP00000099667.3, ENSMUST00000102607.9
      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 (4) summary
      smart00089
      Location:387473
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      cd00146
      Location:671760
      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 ...
      pfam02010
      Location:438671
      REJ; REJ domain
      pfam15229
      Location:134275
      POM121; POM121 family
    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
      Q8K135
      Related
      ENSMUSP00000037802.4, ENSMUST00000047431.10
      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

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000070.6 Reference GRCm38.p4 C57BL/6J

      Range
      126753555..126869694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q8K135
      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_017319894.1XP_017175383.1  dyslexia-associated protein KIAA0319-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q8K135
      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_017319896.1XP_017175385.1  dyslexia-associated protein KIAA0319-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q8K135
      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
    4. XM_017319899.1XP_017175388.1  dyslexia-associated protein KIAA0319-like protein isoform X2

      Conserved Domains (4) summary
      smart00089
      Location:387473
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      cd00146
      Location:671760
      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 ...
      pfam02010
      Location:438671
      REJ; REJ domain
      pfam15229
      Location:134275
      POM121; POM121 family
    5. XM_017319898.1XP_017175387.1  dyslexia-associated protein KIAA0319-like protein isoform X2

      Conserved Domains (4) summary
      smart00089
      Location:387473
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      cd00146
      Location:671760
      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 ...
      pfam02010
      Location:438671
      REJ; REJ domain
      pfam15229
      Location:134275
      POM121; POM121 family
    6. XM_017319897.1XP_017175386.1  dyslexia-associated protein KIAA0319-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q8K135
      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
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