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    Ahi1 Abelson helper integration site 1 [ Mus musculus (house mouse) ]

    Gene ID: 52906, updated on 8-Apr-2018
    Official Symbol
    Ahi1provided by MGI
    Official Full Name
    Abelson helper integration site 1provided by MGI
    Primary source
    MGI:MGI:87971
    See related
    Ensembl:ENSMUSG00000019986 Vega:OTTMUSG00000063871
    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
    Ahi-1; D10Bwg0629e; 1700015F03Rik
    Expression
    Biased expression in CNS E18 (RPKM 44.9), frontal lobe adult (RPKM 34.7) and 6 other tissues See more
    Orthologs
    Location:
    10 A3; 10 9.75 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 10 NC_000076.6 (20952490..21080429)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 10 NC_000076.5 (20672391..20800235)

    Chromosome 10 - NC_000076.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 33510 Neighboring gene ribosomal protein S2, pseudogene 3 Neighboring gene predicted gene, 20149 Neighboring gene myeloblastosis oncogene Neighboring gene predicted gene, 40608

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    cellular protein localization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    central nervous system development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cloaca development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    eye photoreceptor cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heart looping IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    hindbrain development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    morphogenesis of a polarized epithelium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of glucose import ISO
    Inferred from Sequence Orthology
    more info
     
    non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    otic vesicle development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    photoreceptor cell outer segment organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    photoreceptor cell outer segment organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of polarized epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pronephric nephron tubule morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein localization to organelle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retina layer formation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    retinal cone cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retinal rod cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    specification of axis polarity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vesicle targeting IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    MKS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adherens junction ISO
    Inferred from Sequence Orthology
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
     
    cilium IC
    Inferred by Curator
    more info
    PubMed 
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    non-motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    jouberin
    Names
    abelson helper integration site 1 protein

    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_001177776.1NP_001171247.1  jouberin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks multiple 5' exons but has an alternate 5' UTR exon, as compared to variant 1. The resulting isoform (2) is much shorter at the N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK161335, BC065146
      Consensus CDS
      CCDS48512.1
      UniProtKB/TrEMBL
      E9Q552
      Related
      ENSMUSP00000127043.2, ENSMUST00000163505.2
      Conserved Domains (1) summary
      cd11812
      Location:252
      SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
    2. NM_001358561.1NP_001345490.1  jouberin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AK036336, AK080373, BC065146
      Conserved Domains (3) summary
      cd11812
      Location:898948
      SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
      sd00039
      Location:462502
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:461760
      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 ...
    3. NM_026203.3NP_080479.2  jouberin isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK036336, AK080373, BC065146
      Consensus CDS
      CCDS35860.1
      UniProtKB/TrEMBL
      E9QP54
      Related
      ENSMUSP00000101164.4, OTTMUSP00000080890, ENSMUST00000105525.11, OTTMUST00000155656
      Conserved Domains (4) summary
      cd11812
      Location:907957
      SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
      COG2319
      Location:447769
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:462502
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:461760
      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: 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_000076.6 Reference GRCm38.p4 C57BL/6J

      Range
      20952490..21080429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006512798.3XP_006512861.1  jouberin isoform X1

      Conserved Domains (3) summary
      cd11812
      Location:898948
      SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)
      sd00039
      Location:462502
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:461760
      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 ...

    RNA

    1. XR_380069.3 RNA Sequence

    2. XR_001779556.1 RNA Sequence

    3. XR_001779555.1 RNA Sequence

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