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    SGSM3 small G protein signaling modulator 3 [ Homo sapiens (human) ]

    Gene ID: 27352, updated on 6-Jun-2024

    Summary

    Official Symbol
    SGSM3provided by HGNC
    Official Full Name
    small G protein signaling modulator 3provided by HGNC
    Primary source
    HGNC:HGNC:25228
    See related
    Ensembl:ENSG00000100359 MIM:610440; AllianceGenome:HGNC:25228
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAP; CIP85; RUSC3; RUTBC3; RABGAP5; RabGAP-5; rabGAPLP
    Summary
    Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including Rap protein signal transduction; positive regulation of GTPase activity; and regulation of Rab protein signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in stomach (RPKM 33.5), prostate (RPKM 23.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SGSM3 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (40370594..40410289)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (40842001..40880672)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (40766598..40806293)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene trinucleotide repeat containing adaptor 6B Neighboring gene ribosomal protein L7 pseudogene 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19082 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40591286-40591820 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40591821-40592353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40624195-40624696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40633809-40634710 Neighboring gene uncharacterized LOC124905121 Neighboring gene MPRA-validated peak4496 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr22:40740204-40740376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40742019-40742532 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40742533-40743046 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40743047-40743559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19086 Neighboring gene adenylosuccinate lyase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:40812395-40812894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19091 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:40851734-40851957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19093 Neighboring gene myocardin related transcription factor A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:40867879-40868537 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40894439-40894938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:40906589-40907133 Neighboring gene MRTFA antisense RNA 1 Neighboring gene uncharacterized LOC105373037

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp761D051

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in gap junction IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    small G protein signaling modulator 3
    Names
    RUN and SH3 containing 3
    RUN and TBC1 domain containing 3
    RUN and TBC1 domain-containing protein 3
    merlin binding protein
    merlin-associated protein
    rab-GTPase-activating protein-like protein
    small G protein signaling modulator 3 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001301849.2NP_001288778.1  small G protein signaling modulator 3 isoform 2

      See identical proteins and their annotated locations for NP_001288778.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, one of which results in the use of an alternate start codon compared to variant 1. It encodes isoform 2 which has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK301042, AW512418, BC008078, BP283990, HY229847
      UniProtKB/TrEMBL
      B4DMS2, B4DVE3, E9PEL5
      Conserved Domains (3) summary
      cd11813
      Location:421473
      SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
      smart00164
      Location:51262
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam02759
      Location:480628
      RUN; RUN domain
    2. NM_001350039.2NP_001336968.1  small G protein signaling modulator 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL022238, AW512418, BC008078, BP283990, HY229847
      Conserved Domains (3) summary
      cd11813
      Location:484536
      SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
      smart00164
      Location:114325
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam02759
      Location:563731
      RUN; RUN domain
    3. NM_001350040.2NP_001336969.1  small G protein signaling modulator 3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL022238, AW512418, BC008078, BP283990, HY231525
      Conserved Domains (3) summary
      cd11813
      Location:484536
      SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
      smart00164
      Location:114325
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam02759
      Location:563731
      RUN; RUN domain
    4. NM_001350041.2NP_001336970.1  small G protein signaling modulator 3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AW512418, BC008078, BP283990, BU684524
      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
    5. NM_001350042.2NP_001336971.1  small G protein signaling modulator 3 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AK301042, AL022238, AW512418, BC008078, BP283990, HY229847
      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
      Conserved Domains (3) summary
      cd11813
      Location:421473
      SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
      smart00164
      Location:51262
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam02759
      Location:500668
      RUN; RUN domain
    6. NM_001350043.2NP_001336972.1  small G protein signaling modulator 3 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL022238, AW512418, BC008078, BX424691, HY229847
      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
      Conserved Domains (3) summary
      cd11813
      Location:417469
      SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
      smart00164
      Location:47258
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam02759
      Location:496664
      RUN; RUN domain
    7. NM_001350044.2NP_001336973.1  small G protein signaling modulator 3 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AK301042, AW512418, BC008078, BP283990, BX388288, DC389110, HY229847
      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
      Conserved Domains (3) summary
      cd11813
      Location:421473
      SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
      smart00164
      Location:51262
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam02759
      Location:500651
      RUN; RUN domain
    8. NM_001350045.2NP_001336974.1  small G protein signaling modulator 3 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AK301042, AW512418, BC008078, BP283990, BX388288, HY229847
      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
      Conserved Domains (3) summary
      cd11813
      Location:421473
      SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
      smart00164
      Location:51262
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam02759
      Location:500651
      RUN; RUN domain
    9. NM_001350046.2NP_001336975.1  small G protein signaling modulator 3 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AW512418, BC008078, BX424691, HY149764, HY229847
      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
      Conserved Domains (3) summary
      cd11813
      Location:417469
      SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
      smart00164
      Location:47258
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam02759
      Location:496647
      RUN; RUN domain
    10. NM_001350047.2NP_001336976.1  small G protein signaling modulator 3 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AW512418, BC008078, BX430401, HY231525
      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
    11. NM_001350048.2NP_001336977.1  small G protein signaling modulator 3 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AW512418, BC008078, BX428466, BX430401, HY149764, HY229847
      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
      Conserved Domains (3) summary
      cd11813
      Location:318370
      SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
      pfam00566
      Location:7159
      RabGAP-TBC; Rab-GTPase-TBC domain
      pfam02759
      Location:397548
      RUN; RUN domain
    12. NM_015705.6NP_056520.2  small G protein signaling modulator 3 isoform 1

      See identical proteins and their annotated locations for NP_056520.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AW512418, BC008078, BP283990, HY229847
      Consensus CDS
      CCDS14002.1
      UniProtKB/Swiss-Prot
      B0QY79, Q7Z709, Q96HU1, Q9NT69
      UniProtKB/TrEMBL
      B9A6J5
      Related
      ENSP00000248929.8, ENST00000248929.14
      Conserved Domains (3) summary
      cd11813
      Location:484536
      SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
      smart00164
      Location:114325
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam02759
      Location:563714
      RUN; RUN domain

    RNA

    1. NR_146412.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL022238, AW512418, BC008078, BP283990, HY229847
    2. NR_146413.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL022238, AW512418, BC008078, BX424691, HY149764, HY229847
    3. NR_146414.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL022238, AW512418, BC008078, BX428466, DC386475, HY229847
    4. NR_146415.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL022238, AW512418, BC008078, BX428466, BX430401, HY149764, HY229847

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      40370594..40410289
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441336.1XP_047297292.1  small G protein signaling modulator 3 isoform X1

      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
    2. XM_047441337.1XP_047297293.1  small G protein signaling modulator 3 isoform X2

      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
    3. XM_047441338.1XP_047297294.1  small G protein signaling modulator 3 isoform X3

      UniProtKB/TrEMBL
      B4DMS2, E9PEL5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      40842001..40880672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325558.1XP_054181533.1  small G protein signaling modulator 3 isoform X1

      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
    2. XM_054325559.1XP_054181534.1  small G protein signaling modulator 3 isoform X2

      UniProtKB/TrEMBL
      B4DMS2, E9PEL5
    3. XM_054325560.1XP_054181535.1  small G protein signaling modulator 3 isoform X3

      UniProtKB/TrEMBL
      B4DMS2, E9PEL5