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    Schip1 schwannomin interacting protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 30953, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Schip1provided by MGI
    Official Full Name
    schwannomin interacting protein 1provided by MGI
    Primary source
    MGI:MGI:1353557
    See related
    Ensembl:ENSMUSG00000027777 AllianceGenome:MGI:1353557
    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
    Nf2ip; Schip-1
    Summary
    Predicted to enable protein homodimerization activity. Acts upstream of or within several processes, including animal organ development; face morphogenesis; and fibroblast migration. Predicted to be located in cytoplasm. Predicted to be active in cell junction and plasma membrane. Is expressed in alimentary system; aorta; genitourinary system; nervous system; and sensory organ. Orthologous to human SCHIP1 (schwannomin interacting protein 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in cortex adult (RPKM 31.5), cerebellum adult (RPKM 31.4) and 16 other tissues See more
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    Genomic context

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    Location:
    3 E1; 3 31.44 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (67972135..68533815)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (68064802..68626482)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_07894 Neighboring gene predicted gene, 40068 Neighboring gene Iqcj and Schip1 fusion protein Neighboring gene STARR-seq mESC enhancer starr_07895 Neighboring gene IQ motif containing J Neighboring gene STARR-seq mESC enhancer starr_07896 Neighboring gene predicted pseudogene 5848 Neighboring gene predicted gene, 54202 Neighboring gene alkylglycerone phosphate synthase pseudogene Neighboring gene predicted gene 10723 Neighboring gene STARR-seq mESC enhancer starr_07901 Neighboring gene STARR-seq mESC enhancer starr_07902 Neighboring gene STARR-seq mESC enhancer starr_07905 Neighboring gene predicted gene, 22073 Neighboring gene predicted gene, 57836 Neighboring gene STARR-positive B cell enhancer ABC_E7916 Neighboring gene STARR-positive B cell enhancer ABC_E11191 Neighboring gene STARR-positive B cell enhancer mm9_chr3:68521546-68521847 Neighboring gene STARR-seq mESC enhancer starr_07911 Neighboring gene STARR-seq mESC enhancer starr_07912 Neighboring gene interleukin 12a Neighboring gene predicted gene, 35584

    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. Schwannomin-interacting Protein 1 Isoform IQCJ-SCHIP1 Is a Multipartner Ankyrin- and Spectrin-binding Protein Involved in the Organization of Nodes of Ranvier. Martin PM, et al. J Biol Chem, 2017 Feb 10. PMID 27979964, Free PMC Article
    2. Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins. Goutebroze L, et al. Mol Cell Biol, 2000 Mar. PMID 10669747, Free PMC Article
    3. IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein. Kwaśnicka-Crawford DA, et al. Biochem Biophys Res Commun, 2006 Dec 1. PMID 17045569
    4. The cytoskeleton-associated protein SCHIP1 is involved in axon guidance, and is required for piriform cortex and anterior commissure development. Klingler E, et al. Development, 2015 Jun 1. PMID 25953347
    5. Schwannomin-interacting protein-1 isoform IQCJ-SCHIP-1 is a late component of nodes of Ranvier and axon initial segments. Martin PM, et al. J Neurosci, 2008 Jun 11. PMID 18550753, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. work reveals that IQCJ-SCHIP1 interacts with several major nodal proteins, and we suggest that it contributes to a higher organizational level of the AnkG/betaIV-spectrin network critical for node integrity
      Title: Schwannomin-interacting Protein 1 Isoform IQCJ-SCHIP1 Is a Multipartner Ankyrin- and Spectrin-binding Protein Involved in the Organization of Nodes of Ranvier.
    2. CK2-regulated IQJC-SCHIP-1 association with AnkG contributes to axon initial segment maintenance.
      Title: CK2-regulated schwannomin-interacting protein IQCJ-SCHIP-1 association with AnkG contributes to the maintenance of the axon initial segment.
    3. A new and early role for SCHIP1 during axon development and establishment of the anterior commissure, is identified.
      Title: The cytoskeleton-associated protein SCHIP1 is involved in axon guidance, and is required for piriform cortex and anterior commissure development.
    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

    Readthrough Iqschfp

    Readthrough gene: Iqschfp, Included gene: Iqcj

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within estrogen metabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within face morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within female gonad development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within fibroblast migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within luteinization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within nitrogen compound metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within platelet-derived growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of hippo signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within smooth muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    schwannomin-interacting protein 1
    Names
    neurofibromatosis 2 interacting protein

    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_001113420.1 → NP_001106891.1  schwannomin-interacting protein 1 isoform b

      See identical proteins and their annotated locations for NP_001106891.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 3, resulting in an isoform (b, also known as Schip-1b) that is shorter than isoform c.
      Source sequence(s)
      AC093360, BC060529, BY616163
      Consensus CDS
      CCDS50927.1
      UniProtKB/Swiss-Prot
      P0DPB4
      Related
      ENSMUSP00000129152.3, ENSMUST00000169909.10
      Conserved Domains (1) summary
      pfam10148
      Location:24 → 250
      SCHIP-1; Schwannomin-interacting protein 1

    2. NM_001113421.1 → NP_001106892.1  schwannomin-interacting protein 1 isoform c

      See identical proteins and their annotated locations for NP_001106892.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c, also known as Schip-1a).
      Source sequence(s)
      AC093360, AK083464, BC060529, BY616163
      Consensus CDS
      CCDS50926.1
      UniProtKB/Swiss-Prot
      P0DPB4
      UniProtKB/TrEMBL
      A0A0A6YXQ5
      Related
      ENSMUSP00000029346.6, ENSMUST00000029346.13
      Conserved Domains (1) summary
      pfam10148
      Location:252 → 478
      SCHIP-1; Schwannomin-interacting protein 1

    3. NM_001282044.1 → NP_001268973.1  schwannomin-interacting protein 1 isoform e

      See identical proteins and their annotated locations for NP_001268973.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter and differs in the 5' UTR and 5' coding region, compared to variant 3. These differences cause translation initiation at a downstream AUG and result in an isoform (e) with a shorter N-terminus, compared to isoform c. Both variants 5 and 6 encode the same isoform (e).
      Source sequence(s)
      AK146930, AW492234, BY281727, BY299001, BY623736
      Consensus CDS
      CCDS71249.1
      UniProtKB/TrEMBL
      A0A0A6YXQ5
      Related
      ENSMUSP00000138207.2, ENSMUST00000182719.8
      Conserved Domains (1) summary
      pfam10148
      Location:224 → 450
      SCHIP-1; Schwannomin-interacting protein 1

    4. NM_001282045.1 → NP_001268974.1  schwannomin-interacting protein 1 isoform e

      See identical proteins and their annotated locations for NP_001268974.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) represents use of an alternate promoter and differs in the 5' UTR and 5' coding region, compared to variant 3. These differences cause translation initiation at a downstream AUG and result in an isoform (e) with a shorter N-terminus, compared to isoform c. Both variants 5 and 6 encode the same isoform (e).
      Source sequence(s)
      AK083464, BB440451, BY616163, CA750719
      Consensus CDS
      CCDS71249.1
      UniProtKB/TrEMBL
      A0A0A6YXQ5
      Related
      ENSMUSP00000138245.2, ENSMUST00000182532.8
      Conserved Domains (1) summary
      pfam10148
      Location:224 → 450
      SCHIP-1; Schwannomin-interacting protein 1

    5. NM_013928.5 → NP_038956.2  schwannomin-interacting protein 1 isoform d

      See identical proteins and their annotated locations for NP_038956.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 3. The encoded isoform (d) has a distinct and shorter N-terminus, compared to isoform c.
      Source sequence(s)
      BC060529, BY243167, BY616163
      Consensus CDS
      CCDS50929.1
      UniProtKB/TrEMBL
      A0A097PIJ2
      Related
      ENSMUSP00000126443.2, ENSMUST00000170788.9
      Conserved Domains (1) summary
      pfam10148
      Location:12 → 235
      SCHIP-1; Schwannomin-interacting protein 1

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      67972135..68533815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DPB4.1 GenPept UniProtKB/Swiss-Prot:P0DPB4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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