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

Gene ID: 27352, updated on 8-May-2016
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 HPRD:15285; MIM:610440; Vega:OTTHUMG00000151141
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; RUSC3; RUTBC3; RABGAP5; RabGAP-5; rabGAPLP
Orthologs
Location:
22q13.1-q13.2
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (40370562..40410289)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (40766571..40806293)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene trinucleotide repeat containing 6B Neighboring gene ribosomal protein L7 pseudogene 52 Neighboring gene uncharacterized LOC105373036 Neighboring gene adenylosuccinate lyase Neighboring gene megakaryoblastic leukemia (translocation) 1 Neighboring gene uncharacterized LOC101927257 Neighboring gene uncharacterized LOC105373037

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI 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.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp761D051

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Rap protein signal transduction IEP
Inferred from Expression Pattern
more info
PubMed 
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane to endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of Rab protein signal transduction IEP
Inferred from Expression Pattern
more info
PubMed 
NOT regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of vesicle fusion IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
 
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
SGSM3
merlin binding protein
merlin-associated protein
rab-GTPase-activating protein-like protein
small G protein signaling modulator 3 protein

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_001301849.1NP_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/Swiss-Prot
    Q96HU1
    UniProtKB/TrEMBL
    B4DVE3
    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_015705.5NP_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
    Q96HU1
    UniProtKB/TrEMBL
    B9A6J5
    Related
    ENSP00000248929, OTTHUMP00000199241, ENST00000248929, OTTHUMT00000321504
    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:563717
    RUN; RUN domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

    Range
    40370562..40410289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261574.3XP_005261631.1  

    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:563717
    RUN; RUN domain
  2. XM_005261573.2XP_005261630.1  

    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:563734
    RUN; RUN domain
  3. XM_005261572.1XP_005261629.1  

    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:563734
    RUN; RUN domain
  4. XM_011530158.1XP_011528460.1  

    Conserved Domains (3) summary
    cd11813
    Location:436488
    SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
    pfam00566
    Location:159277
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam02759
    Location:515686
    RUN; RUN domain
  5. XM_005261577.1XP_005261634.1  

    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
    cl02689
    Location:563611
    RUN; RUN domain
  6. XM_005261575.1XP_005261632.1  

    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:496667
    RUN; RUN domain
  7. XM_011530161.1XP_011528463.1  

    Conserved Domains (3) summary
    cd11813
    Location:318370
    SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
    smart00164
    Location:1159
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    pfam02759
    Location:397568
    RUN; RUN domain
  8. XM_011530159.1XP_011528461.1  

    See identical proteins and their annotated locations for XP_011528461.1

    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:500671
    RUN; RUN domain
  9. XM_011530162.1XP_011528464.1  

    See identical proteins and their annotated locations for XP_011528464.1

    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:500654
    RUN; RUN domain
  10. XM_011530160.1XP_011528462.1  

    See identical proteins and their annotated locations for XP_011528462.1

    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:500671
    RUN; RUN domain

RNA

  1. XR_937842.1 RNA Sequence

  2. XR_244369.1 RNA Sequence

    Related
    ENST00000485962
  3. XR_937841.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    40725458..40765196
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)