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

Gene ID: 27352, updated on 7-Jun-2020

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
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
Expression
Ubiquitous expression in stomach (RPKM 33.5), prostate (RPKM 23.3) and 25 other tissues See more
Orthologs

Genomic context

See SGSM3 in Genome Data Viewer
Location:
22q13.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (40370584..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 uncharacterized LOC114841040 Neighboring gene family with sequence similarity 83 member F Neighboring gene trinucleotide repeat containing adaptor 6B Neighboring gene ribosomal protein L7 pseudogene 52 Neighboring gene SGSM3 antisense RNA 1 Neighboring gene adenylosuccinate lyase Neighboring gene myocardin related transcription factor A 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp761D051

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane to endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
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 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
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)

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/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_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
    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
  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
    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
    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
    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
    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
    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
    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
  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
    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
    Q96HU1
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    40370584..40410289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452228.1XP_024307996.1  small G protein signaling modulator 3 isoform X9

    Conserved Domains (3) summary
    cd11813
    Location:445497
    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:524692
    RUN; RUN domain
  2. XM_024452229.1XP_024307997.1  small G protein signaling modulator 3 isoform X10

    Conserved Domains (3) summary
    cd11813
    Location:445497
    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:524675
    RUN; RUN domain
  3. XM_017028778.1XP_016884267.1  small G protein signaling modulator 3 isoform X11

  4. XM_024452225.1XP_024307993.1  small G protein signaling modulator 3 isoform X7

    Conserved Domains (3) summary
    cd11813
    Location:449501
    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:528696
    RUN; RUN domain
  5. XM_024452231.1XP_024307999.1  small G protein signaling modulator 3 isoform X12

    Conserved Domains (3) summary
    cd11813
    Location:346398
    SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
    pfam00566
    Location:7159
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam02759
    Location:425593
    RUN; RUN domain
  6. XM_024452226.1XP_024307994.1  small G protein signaling modulator 3 isoform X7

    Conserved Domains (3) summary
    cd11813
    Location:449501
    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:528696
    RUN; RUN domain
  7. XM_024452220.1XP_024307988.1  small G protein signaling modulator 3 isoform X2

    Conserved Domains (3) summary
    cd11813
    Location:555607
    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:634785
    RUN; RUN domain
  8. XM_024452230.1XP_024307998.1  small G protein signaling modulator 3 isoform X12

    Conserved Domains (3) summary
    cd11813
    Location:346398
    SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
    pfam00566
    Location:7159
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam02759
    Location:425593
    RUN; RUN domain
  9. XM_024452219.1XP_024307987.1  small G protein signaling modulator 3 isoform X1

    Related
    ENST00000485962.5
    Conserved Domains (3) summary
    cd11813
    Location:555607
    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:634785
    RUN; RUN domain
  10. XM_024452222.1XP_024307990.1  small G protein signaling modulator 3 isoform X4

    Conserved Domains (3) summary
    cd11813
    Location:527579
    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:606757
    RUN; RUN domain
  11. XM_024452221.1XP_024307989.1  small G protein signaling modulator 3 isoform X3

    Conserved Domains (3) summary
    cd11813
    Location:512564
    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:591759
    RUN; RUN domain
  12. XM_024452223.1XP_024307991.1  small G protein signaling modulator 3 isoform X5

    Conserved Domains (3) summary
    cd11813
    Location:512564
    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:591742
    RUN; RUN domain
  13. XM_024452224.1XP_024307992.1  small G protein signaling modulator 3 isoform X6

    Conserved Domains (3) summary
    cd11813
    Location:464516
    SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
    pfam00566
    Location:159277
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam02759
    Location:543711
    RUN; RUN domain
  14. XM_024452227.1XP_024307995.1  small G protein signaling modulator 3 isoform X8

    Conserved Domains (3) summary
    cd11813
    Location:464516
    SH3_SGSM3; Src Homology 3 domain of Small G protein Signaling Modulator 3
    pfam00566
    Location:159277
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam02759
    Location:543694
    RUN; RUN domain

RNA

  1. XR_001755223.1 RNA Sequence

  2. XR_001755224.1 RNA Sequence

  3. XR_937841.1 RNA Sequence

  4. XR_001755217.1 RNA Sequence

  5. XR_001755218.1 RNA Sequence

  6. XR_001755225.2 RNA Sequence

  7. XR_002958688.1 RNA Sequence

  8. XR_002958686.1 RNA Sequence

  9. XR_002958687.1 RNA Sequence

  10. XR_001755221.2 RNA Sequence

  11. XR_001755222.2 RNA Sequence

  12. XR_001755220.2 RNA Sequence

  13. XR_937842.3 RNA Sequence

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