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    Sgsm1 small G protein signaling modulator 1 [ Mus musculus (house mouse) ]

    Gene ID: 52850, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Sgsm1provided by MGI
    Official Full Name
    small G protein signaling modulator 1provided by MGI
    Primary source
    MGI:MGI:107320
    See related
    Ensembl:ENSMUSG00000042216 AllianceGenome:MGI:107320
    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
    NuIP; Rutbc2; D5Bwg1524e; E130107M15; 2410098H20Rik
    Summary
    Enables small GTPase binding activity. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in cytoplasmic vesicle membrane. Is expressed in several structures, including brain and metanephros. Orthologous to human SGSM1 (small G protein signaling modulator 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in cerebellum adult (RPKM 14.0), frontal lobe adult (RPKM 12.5) and 19 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sgsm1 in Genome Data Viewer
    Location:
    5 F; 5 55.45 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (113391086..113458654, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (113243220..113310788, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 2900026A02 gene Neighboring gene VISTA enhancer mm329 Neighboring gene predicted gene, 42161 Neighboring gene LHFPL tetraspan subfamily member 7 Neighboring gene STARR-seq mESC enhancer starr_14032 Neighboring gene microRNA 7229 Neighboring gene microRNA 7230

    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. Expression pattern of NuIP gene in adult mouse brain. Luo Y, et al. Brain Res, 2009 Dec 11. PMID 19765553
    2. Nur(R1)turing a notion on the etiopathogenesis of Parkinson's disease. Federoff HJ. Neurotox Res, 2009 Oct. PMID 19526279
    3. Identification of a novel nurr1-interacting protein. Luo Y, et al. J Neurosci, 2008 Sep 10. PMID 18784308, Free PMC Article
    4. Crystal structure of the Rab9A-RUTBC2 RBD complex reveals the molecular basis for the binding specificity of Rab9A with RUTBC2. Zhang Z, et al. Structure, 2014 Oct 7. PMID 25220469
    5. Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway. Yang H, et al. Genomics, 2007 Aug. PMID 17509819

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (2) 

    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
    		  
    enables GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    small G protein signaling modulator 1
    Names
    RUN and TBC1 domain containing 2
    RUN and TBC1 domain-containing protein 2
    nurr1-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_001162965.1 → NP_001156437.1  small G protein signaling modulator 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC130548, AC151577, AK044716, AK051018, AK053555
      UniProtKB/TrEMBL
      Q3TDT4
      Related
      ENSMUST00000145708.8
      Conserved Domains (3) summary
      smart00164
      Location:881 → 961
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:254 → 425
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:44 → 188
      RUN; RUN domain

    2. NM_001254731.1 → NP_001241660.1  small G protein signaling modulator 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 3' UTR and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform c) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC130548, AK044716, DV644552
      Consensus CDS
      CCDS57374.1
      UniProtKB/TrEMBL
      D3YUT7, D3Z7V4
      Related
      ENSMUSP00000107944.2, ENSMUST00000112325.8
      Conserved Domains (2) summary
      smart00593
      Location:127 → 187
      RUN; domain involved in Ras-like GTPase signaling
      cd15784
      Location:254 → 425
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

    3. NM_001309526.1 → NP_001296455.1  small G protein signaling modulator 1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in both UTRs, lacks a portion of the 5' and 3' coding regions, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AC151577, AK051018
      Related
      ENSMUST00000147856.8
      Conserved Domains (2) summary
      smart00164
      Location:594 → 674
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:14 → 138
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

    4. NM_001309528.1 → NP_001296457.1  small G protein signaling modulator 1 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AK051018, AK053555, AK167632, BP761545
      Consensus CDS
      CCDS84935.1
      UniProtKB/Swiss-Prot
      Q8BPQ7
      Related
      ENSMUSP00000084106.5, ENSMUST00000057209.12
      Conserved Domains (2) summary
      smart00164
      Location:594 → 763
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:14 → 138
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

    5. NM_172718.3 → NP_766306.2  small G protein signaling modulator 1 isoform a

      See identical proteins and their annotated locations for NP_766306.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC130548, AK044716, AK053555, AK167632, BP761545
      Consensus CDS
      CCDS39218.1
      UniProtKB/Swiss-Prot
      Q3TJ12, Q8BPQ7
      UniProtKB/TrEMBL
      B2RQR5
      Related
      ENSMUSP00000046544.7, ENSMUST00000048112.13
      Conserved Domains (3) summary
      smart00164
      Location:881 → 1050
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:254 → 425
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:44 → 188
      RUN; RUN 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_000071.7 Reference GRCm39 C57BL/6J

      Range
      113391086..113458654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006535122.4 → XP_006535185.1  small G protein signaling modulator 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3TJ12, Q8BPQ7
      Conserved Domains (3) summary
      smart00164
      Location:936 → 1105
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd15784
      Location:254 → 425
      PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
      pfam02759
      Location:44 → 186
      RUN; RUN domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BPQ7.2 GenPept UniProtKB/Swiss-Prot:Q8BPQ7

    Gene LinkOut

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

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