O43147 · SGSM2_HUMAN

  • Protein
    Small G protein signaling modulator 2
  • Gene
    SGSM2
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Possesses GTPase activator activity towards RAB32, RAB33B and RAB38 (PubMed:21808068, PubMed:26620560).
Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation (PubMed:26620560).

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentcytoplasm
Cellular Componentmelanosome
Molecular FunctionGTPase activator activity
Molecular Functionsmall GTPase binding
Biological Processlate endosome to Golgi transport
Biological Processpositive regulation of GTPase activity

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Small G protein signaling modulator 2
  • Alternative names
    • RUN and TBC1 domain-containing protein 1

Gene names

    • Name
      SGSM2
    • Synonyms
      KIAA0397, RUTBC1

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    O43147
  • Secondary accessions
    • A5LGW2
    • B4DH69
    • Q49AC2
    • Q6ZUY2
    • Q8IXU4

Proteomes

Organism-specific databases

Subcellular Location

Cytoplasm
Melanosome
Note: Melanosomal localization is mediated by RAB9A.

Keywords

Disease & Variants

Features

Showing features for natural variant, mutagenesis.

TypeIDPosition(s)Description
Natural variantVAR_03179563in dbSNP:rs17853891
Natural variantVAR_031796238in dbSNP:rs745400
Natural variantVAR_031797244in dbSNP:rs17853888
Natural variantVAR_031798329in dbSNP:rs17857178
Natural variantVAR_031799374in dbSNP:rs2248821
Mutagenesis803Loss of GTPase activator activity towards RAB32, RAB33B and RAB38.
Natural variantVAR_031800968in dbSNP:rs17857180

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 1,328 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue (large scale data), modified residue.

TypeIDPosition(s)SourceDescription
ChainPRO_00002846621-1006UniProtSmall G protein signaling modulator 2
Modified residue (large scale data)123PRIDEPhosphoserine
Modified residue402UniProtPhosphoserine

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Widely expressed.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Interacts with RAB4A, RAB11A, RAP1A, RAP1B, RAP2A and RAP2B. No interaction with RAB27A (PubMed:17509819).
Interacts with RAB9A (PubMed:21808068, PubMed:26620560).

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Features

Showing features for domain, compositional bias, region.

TypeIDPosition(s)Description
Domain34-191RUN
Compositional bias96-112Polar residues
Region96-120Disordered
Region205-232Disordered
Domain566-939Rab-GAP TBC
Region657-768Disordered
Compositional bias690-727Polar residues

Domain

The Rab-GAP TBC domain possesses GTPase activator activity.

Sequence similarities

Belongs to the RUTBC family.

Phylogenomic databases

Family and domain databases

Sequence & Isoforms

Align isoforms (4)
  • Sequence status
    Complete

This entry describes 4 isoforms produced by Alternative splicing.

O43147-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    1,006
  • Mass (Da)
    113,285
  • Last updated
    2007-04-17 v4
  • Checksum
    352F6F6D6017B570
MGSAEDAVKEKLLWNVKKEVKQIMEEAVTRKFVHEDSSHIIALCGAVEACLLHQLRRRAAGFLRSDKMAALFTKVGKTCPVAGEICHKVQELQQQAEGRKPSGVSQEALRRQGSASGKAPALSPQALKHVWVRTALIEKVLDKVVQYLAENCSKYYEKEALLADPVFGPILASLLVGPCALEYTKLKTADHYWTDPSADELVQRHRIRGPPTRQDSPAKRPALGIRKRHSSGSASEDRLAACARECVESLHQNSRTRLLYGKNHVLVQPKEDMEAVPGYLSLHQSAESLTLKWTPNQLMNGTLGDSELEKSVYWDYALVVPFSQVVCIHCHQQKSGGTLVLVSQDGIQRPPLHFPQGGHLLSFLSCLENGLLPRGQLEPPLWTQQGKGKVFPKLRKRSSIRSVDMEEMGTGRATDYVFRIIYPGHRHEHNAGDMIEMQGFGPSLPAWHLEPLCSQGSSCLSCSSSSSPHATPSHCSCIPDRLPLRLLCESMKRQIVSRAFYGWLAHCRHLSTVRTHLSALVHHSVIPPDRPPGASAGLTKDVWSKYQKDKKNYKELELLRQVYYGGIEHEIRKDVWPFLLGHYKFGMSKKEMEQVDAVVAARYQQVLAEWKACEVVVRQREREAHPATRTKFSSGSSIDSHVQRLIHRDSTISNDVFISVDDLEPPEPQDPEDSRPKPEQEAGPGTPGTAVVEQQHSVEFDSPDSGLPSSRNYSVASGIQSSLDEGQSVGFEEEDGGGEEGSSGPGPAAHTLREPQDPSQEKPQAGELEAGEELAAVCAAAYTIELLDTVALNLHRIDKDVQRCDRNYWYFTPPNLERLRDVMCSYVWEHLDVGYVQGMCDLLAPLLVTLDNDQLAYSCFSHLMKRMSQNFPNGGAMDTHFANMRSLIQILDSELFELMHQNGDYTHFYFCYRWFLLDFKRELLYEDVFAVWEVIWAARHISSEHFVLFIALALVEAYREIIRDNNMDFTDIIKFFNERAEHHDAQEILRIARDLVHKVQMLIENK

O43147-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical
    • 430-430: N → ITINYHHLAASRAASVDDDEEEEDKLHAMLSMICSRNLTAPNPMKD

O43147-3

  • Name
    3
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical
    • 1-412: Missing
    • 413-430: ATDYVFRIIYPGHRHEHN → MLSMICSRNLTAPNPMKD
    • 552-569: NYKELELLRQVYYGGIEH → VPTLGFQGHRSRGWGGQE
    • 570-1006: Missing

O43147-5

  • Name
    5
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical
    • 978-1006: ERAEHHDAQEILRIARDLVHKVQMLIENK → GTSLKTTCKK

Computationally mapped potential isoform sequences

There are 6 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
V9GYD2V9GYD2_HUMANSGSM270
V9GYJ0V9GYJ0_HUMANSGSM2316
I3NI18I3NI18_HUMANSGSM236
I3L361I3L361_HUMANSGSM295
I3L1Y7I3L1Y7_HUMANSGSM229
J3QSA2J3QSA2_HUMANSGSM2114

Sequence caution

The sequence BAA23693.3 differs from that shown. Reason: Erroneous initiation

Features

Showing features for alternative sequence, compositional bias, sequence conflict.

TypeIDPosition(s)Description
Alternative sequenceVSP_0245941-412in isoform 3
Compositional bias96-112Polar residues
Sequence conflict159in Ref. 4; BAG58030
Alternative sequenceVSP_024595413-430in isoform 3
Alternative sequenceVSP_024596430in isoform 2
Alternative sequenceVSP_024597552-569in isoform 3
Alternative sequenceVSP_024598570-1006in isoform 3
Compositional bias690-727Polar residues
Alternative sequenceVSP_035964978-1006in isoform 5

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AB275762
EMBL· GenBank· DDBJ
BAF63512.1
EMBL· GenBank· DDBJ
mRNA
AB007857
EMBL· GenBank· DDBJ
BAA23693.3
EMBL· GenBank· DDBJ
mRNA Different initiation
AK125203
EMBL· GenBank· DDBJ
BAC86084.1
EMBL· GenBank· DDBJ
mRNA
AK294955
EMBL· GenBank· DDBJ
BAG58030.1
EMBL· GenBank· DDBJ
mRNA
AC006435
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AL450226
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
BC039204
EMBL· GenBank· DDBJ
AAH39204.1
EMBL· GenBank· DDBJ
mRNA
BC040590
EMBL· GenBank· DDBJ
-mRNA No translation available.

Genome annotation databases

Similar Proteins

Disclaimer

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