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Sgsm2 small G protein signaling modulator 2 [ Mus musculus (house mouse) ]

Gene ID: 97761, updated on 5-Mar-2024

Summary

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Official Symbol
Sgsm2provided by MGI
Official Full Name
small G protein signaling modulator 2provided by MGI
Primary source
MGI:MGI:2144695
See related
Ensembl:ENSMUSG00000038351 AllianceGenome:MGI:2144695
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
Rutbc1; mKIAA0397; D630003G22Rik
Summary
Enables GTPase activator activity. Predicted to be involved in activation of GTPase activity; intracellular protein transport; and late endosome to Golgi transport. Located in melanosome. Is expressed in brain and embryo. Orthologous to human SGSM2 (small G protein signaling modulator 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in cortex adult (RPKM 17.1), frontal lobe adult (RPKM 15.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
11 B5; 11 45.76 cM
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (74740088..74787929, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (74849262..74897211, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene methyltransferase 16, N6-methyladenosine Neighboring gene predicted gene, 57584 Neighboring gene STARR-positive B cell enhancer ABC_E8879 Neighboring gene STARR-positive B cell enhancer ABC_E11484 Neighboring gene STARR-positive B cell enhancer ABC_E7015 Neighboring gene max binding protein Neighboring gene microRNA 6926 Neighboring gene small nucleolar RNA, C/D box 91A Neighboring gene TSR1 20S rRNA accumulation Neighboring gene serine racemase Neighboring gene predicted gene, 22733 Neighboring gene SMG6 nonsense mediated mRNA decay factor

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. 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
  2. RUTBC1 Functions as a GTPase-activating Protein for Rab32/38 and Regulates Melanogenic Enzyme Trafficking in Melanocytes. Marubashi S, et al. J Biol Chem, 2016 Jan 15. PMID 26620560, Free PMC Article
  3. A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. Breslow DK, et al. Nat Genet, 2018 Mar. PMID 29459677, Free PMC Article
  4. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553
  5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

See all (15) 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) 

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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables GTPase activator activity ISO
Inferred from Sequence Orthology
more info
  
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in late endosome to Golgi transport ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of GTPase activity ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in melanosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in melanosome ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
small G protein signaling modulator 2
Names
RUN and TBC1 domain containing 1
RUN and TBC1 domain-containing protein 1
NP_001361617.1
NP_922934.2
XP_006534646.1
XP_006534647.1
XP_006534648.1
XP_006534650.1
XP_006534652.1
XP_030102307.1
XP_030102309.1
XP_030102310.1
XP_030102311.1
XP_030102312.1
XP_030102314.1
XP_036013005.1
XP_036013006.1

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_001374688.1 → NP_001361617.1  small G protein signaling modulator 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL604066
    Consensus CDS
    CCDS88189.1
    Related
    ENSMUSP00000080489.6, ENSMUST00000081799.6
    Conserved Domains (3) summary
    smart00164
    Location:838 → 1006
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:256 → 424
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:42 → 185
    RUN; RUN domain

  2. NM_197943.3 → NP_922934.2  small G protein signaling modulator 2 isoform 1

    See identical proteins and their annotated locations for NP_922934.2

    Status: VALIDATED

    Source sequence(s)
    AL604066
    Consensus CDS
    CCDS36224.1
    UniProtKB/Swiss-Prot
    Q5SWE0, Q5SWE1, Q6PAP8, Q80U12
    Related
    ENSMUSP00000050496.6, ENSMUST00000057631.12
    Conserved Domains (3) summary
    smart00164
    Location:793 → 961
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:256 → 424
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    pfam02759
    Location:42 → 185
    RUN; RUN domain

RNA

  1. NR_166445.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL604066

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_000077.7 Reference GRCm39 C57BL/6J

    Range
    74740088..74787929 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006534585.4 → XP_006534648.1  small G protein signaling modulator 2 isoform X3

    Conserved Domains (2) summary
    smart00164
    Location:637 → 805
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:55 → 223
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

  2. XM_030246449.1 → XP_030102309.1  small G protein signaling modulator 2 isoform X5

    Conserved Domains (2) summary
    smart00164
    Location:553 → 721
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:21 → 184
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

  3. XM_030246447.1 → XP_030102307.1  small G protein signaling modulator 2 isoform X4

    Conserved Domains (2) summary
    smart00164
    Location:598 → 766
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:21 → 184
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

  4. XM_030246451.2 → XP_030102311.1  small G protein signaling modulator 2 isoform X6

    Conserved Domains (2) summary
    smart00164
    Location:537 → 705
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:2 → 123
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

  5. XM_030246452.2 → XP_030102312.1  small G protein signaling modulator 2 isoform X7

    Conserved Domains (2) summary
    smart00164
    Location:521 → 689
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:1 → 152
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

  6. XM_006534583.5 → XP_006534646.1  small G protein signaling modulator 2 isoform X1

    Conserved Domains (3) summary
    smart00164
    Location:745 → 913
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:163 → 331
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    cl02689
    Location:42 → 99
    RUN; RUN domain

  7. XM_006534584.5 → XP_006534647.1  small G protein signaling modulator 2 isoform X2

    Conserved Domains (3) summary
    smart00164
    Location:725 → 893
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:163 → 311
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins
    cl02689
    Location:42 → 152
    RUN; RUN domain

  8. XM_036157112.1 → XP_036013005.1  small G protein signaling modulator 2 isoform X8

    Conserved Domains (2) summary
    smart00164
    Location:469 → 637
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cl17171
    Location:14 → 55
    PH-like; Pleckstrin homology-like domain

  9. XM_030246450.1 → XP_030102310.1  small G protein signaling modulator 2 isoform X5

    Conserved Domains (2) summary
    smart00164
    Location:553 → 721
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:21 → 184
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

  10. XM_006534587.2 → XP_006534650.1  small G protein signaling modulator 2 isoform X4

    Conserved Domains (2) summary
    smart00164
    Location:598 → 766
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd15784
    Location:21 → 184
    PH_RUTBC; Rab-binding Pleckstrin homology domain (PH) of small G-protein signaling modulator 1 and similar proteins

  11. XM_030246454.1 → XP_030102314.1  small G protein signaling modulator 2 isoform X9

    Conserved Domains (2) summary
    smart00164
    Location:424 → 592
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cl17171
    Location:14 → 55
    PH-like; Pleckstrin homology-like domain

  12. XM_036157113.1 → XP_036013006.1  small G protein signaling modulator 2 isoform X8

    Conserved Domains (2) summary
    smart00164
    Location:469 → 637
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cl17171
    Location:14 → 55
    PH-like; Pleckstrin homology-like domain

  13. XM_006534589.3 → XP_006534652.1  small G protein signaling modulator 2 isoform X8

    See identical proteins and their annotated locations for XP_006534652.1

    Conserved Domains (2) summary
    smart00164
    Location:469 → 637
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cl17171
    Location:14 → 55
    PH-like; Pleckstrin homology-like domain

RNA

  1. XR_001780085.3 RNA Sequence

  2. XR_001780083.3 RNA Sequence

  3. XR_388560.5 RNA Sequence

  4. XR_001780084.3 RNA Sequence

  5. XR_001780082.3 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80U12.2 GenPept UniProtKB/Swiss-Prot:Q80U12

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