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    Sipa1l2 signal-induced proliferation-associated 1 like 2 [ Mus musculus (house mouse) ]

    Gene ID: 244668, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Sipa1l2provided by MGI
    Official Full Name
    signal-induced proliferation-associated 1 like 2provided by MGI
    Primary source
    MGI:MGI:2676970
    See related
    Ensembl:ENSMUSG00000001995 AllianceGenome:MGI:2676970
    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
    mKIAA1389
    Summary
    Predicted to enable GTPase activator activity. Involved in presynaptic signal transduction. Is active in glutamatergic synapse. Is expressed in brain and thymus primordium. Orthologous to human SIPA1L2 (signal induced proliferation associated 1 like 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 20.0), lung adult (RPKM 16.6) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sipa1l2 in Genome Data Viewer
    Location:
    8 E2; 8 73.63 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (126144807..126296602, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (125418068..125569863, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:127591083-127591270 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:127591569-127591752 Neighboring gene VISTA enhancer mm1749 Neighboring gene disrupted in schizophrenia 1 Neighboring gene VISTA enhancer mm149 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:127817421-127817530 Neighboring gene STARR-seq mESC enhancer starr_23015 Neighboring gene STARR-seq mESC enhancer starr_23016 Neighboring gene STARR-seq mESC enhancer starr_23018 Neighboring gene STARR-positive B cell enhancer mm9_chr8:127915206-127915507 Neighboring gene STARR-seq mESC enhancer starr_23020 Neighboring gene predicted gene, 30713 Neighboring gene STARR-seq mESC enhancer starr_23022 Neighboring gene RIKEN cDNA 4930566D17 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:128084754-128084863 Neighboring gene RIKEN cDNA 4930567H12 gene Neighboring gene predicted gene, 51602 Neighboring gene STARR-seq mESC enhancer starr_23041 Neighboring gene STARR-seq mESC enhancer starr_23042 Neighboring gene predicted gene, 30871

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Testing SIPA1L2 as a modifier of CMT1A using mouse models. Murray GC, et al. J Neuropathol Exp Neurol, 2024 Apr 19. PMID 38472136,
    2. SIPA1L2 controls trafficking and local signaling of TrkB-containing amphisomes at presynaptic terminals. Andres-Alonso M, et al. Nat Commun, 2019 Nov 29. PMID 31784514, Free PMC Article
    3. Oncogenic RAS directs silencing of tumor suppressor genes through ordered recruitment of transcriptional repressors. Wajapeyee N, et al. Genes Dev, 2013 Oct 15. PMID 24105743, Free PMC Article
    4. Brn3a and Nurr1 mediate a gene regulatory pathway for habenula development. Quina LA, et al. J Neurosci, 2009 Nov 11. PMID 19906978, Free PMC Article
    5. The TRIM9/TRIM67 neuronal interactome reveals novel activators of morphogenesis. Menon S, et al. Mol Biol Cell, 2021 Feb 15. PMID 33378226, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Testing SIPA1L2 as a modifier of CMT1A using mouse models.
      Title: Testing SIPA1L2 as a modifier of CMT1A using mouse models.
    2. SIPA1L2, which connects TrkB amphisomes to a dynein motor, orchestrates neuronal amphisomal trafficking of BDNF/TrkB at presynaptic boutons during retrograde transport to the soma.
      Title: SIPA1L2 controls trafficking and local signaling of TrkB-containing amphisomes at presynaptic terminals.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in presynaptic signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in presynaptic signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    signal-induced proliferation-associated 1-like protein 2
    Names
    SIPA1-like protein 2

    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_001081337.2 → NP_001074806.1  signal-induced proliferation-associated 1-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001074806.1

      Status: VALIDATED

      Source sequence(s)
      AC073946
      Consensus CDS
      CCDS40518.1
      UniProtKB/Swiss-Prot
      E9QPK7, Q6PDY1, Q80TE4
      UniProtKB/TrEMBL
      B9EK76
      Related
      ENSMUSP00000104405.2, ENSMUST00000108775.2
      Conserved Domains (3) summary
      cd00992
      Location:951 → 1021
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:626 → 806
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:1423 → 1666
      SPAR_C; C-terminal domain of SPAR protein

    2. NM_001357372.1 → NP_001344301.1  signal-induced proliferation-associated 1-like protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      BB352643, BC072593, CJ105938
      Consensus CDS
      CCDS90484.1
      UniProtKB/TrEMBL
      A0A1D5RLY9, B9EK76
      Related
      ENSMUSP00000148557.2, ENSMUST00000212168.2
      Conserved Domains (4) summary
      cd00992
      Location:951 → 1021
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:626 → 806
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:1423 → 1648
      SPAR_C; C-terminal domain of SPAR protein
      pfam15742
      Location:1630 → 1694
      DUF4686; Domain of unknown function (DUF4686)

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      126144807..126296602 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248389.1 → XP_011246691.1  signal-induced proliferation-associated 1-like protein 2 isoform X2

      UniProtKB/TrEMBL
      B9EK76
      Conserved Domains (3) summary
      cd00992
      Location:951 → 1021
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:626 → 806
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:1423 → 1604
      SPAR_C; C-terminal domain of SPAR protein

    2. XM_006531024.1 → XP_006531087.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006531087.1

      UniProtKB/Swiss-Prot
      E9QPK7, Q6PDY1, Q80TE4
      UniProtKB/TrEMBL
      B9EK76
      Related
      ENSMUSP00000148536.2, ENSMUST00000212987.2
      Conserved Domains (3) summary
      cd00992
      Location:951 → 1021
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:626 → 806
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:1423 → 1666
      SPAR_C; C-terminal domain of SPAR protein

    3. XM_030243567.2 → XP_030099427.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E9QPK7, Q6PDY1, Q80TE4
      UniProtKB/TrEMBL
      B9EK76
      Conserved Domains (3) summary
      cd00992
      Location:951 → 1021
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam02145
      Location:626 → 806
      Rap_GAP; Rap/ran-GAP
      pfam11881
      Location:1423 → 1666
      SPAR_C; C-terminal domain of SPAR protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80TE4.3 GenPept UniProtKB/Swiss-Prot:Q80TE4

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