Seroatlas · Human Serome Atlas

SGSM3

Small G protein signaling modulator 3

Also known as: DJ1042K10.2, RabGAP-5, RABGAP5, RUSC3, RUTBC3, SGSM3_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96HU1
Gene: SGSM3
Ensembl: ENSG00000100359
Chromosome: 22
Canonical length: 749 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Golgi apparatus

OverviewNCBI Gene

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, Jul 2025]

Canonical amino-acid sequenceUniProt

749 residues, UniProt reviewed canonical sequence.

>Q96HU1|SGSM3
     1  MSGSHTPACG PFSALTPSIW PQEILAKYTQ KEESAEQPEF YYDEFGFRVY KEEGDEPGSS
    61  LLANSPLMED APQRLRWQAH LEFTHNHDVG DLTWDKIAVS LPRSEKLRSL VLAGIPHGMR
   121  PQLWMRLSGA LQKKRNSELS YREIVKNSSN DETIAAKQIE KDLLRTMPSN ACFASMGSIG
   181  VPRLRRVLRA LAWLYPEIGY CQGTGMVAAC LLLFLEEEDA FWMMSAIIED LLPASYFSTT
   241  LLGVQTDQRV LRHLIVQYLP RLDKLLQEHD IELSLITLHW FLTAFASVVD IKLLLRIWDL
   301  FFYEGSRVLF QLTLGMLHLK EEELIQSENS ASIFNTLSDI PSQMEDAELL LGVAMRLAGS
   361  LTDVAVETQR RKHLAYLIAD QGQLLGAGTL TNLSQVVRRR TQRRKSTITA LLFGEDDLEA
   421  LKAKNIKQTE LVADLREAIL RVARHFQCTD PKNCSVELTP DYSMESHQRD HENYVACSRS
   481  HRRRAKALLD FERHDDDELG FRKNDIITIV SQKDEHCWVG ELNGLRGWFP AKFVEVLDER
   541  SKEYSIAGDD SVTEGVTDLV RGTLCPALKA LFEHGLKKPS LLGGACHPWL FIEEAAGREV
   601  ERDFASVYSR LVLCKTFRLD EDGKVLTPEE LLYRAVQSVN VTHDAVHAQM DVKLRSLICV
   661  GLNEQVLHLW LEVLCSSLPT VEKWYQPWSF LRSPGWVQIK CELRVLCCFA FSLSQDWELP
   721  AKREAQQPLK EGVRDMLVKH HLFSWDVDG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SGSM3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 104 nTPM

Expression across tissuesHPA

Tissue

pancreas: 104 nTPM
stomach: 85 nTPM
salivary gland: 68 nTPM
prostate: 59 nTPM
cerebellum: 54 nTPM
cerebral cortex: 53 nTPM

Single-cell type

foveolar cells: 143 nCPM
goblet cells: 112 nCPM
mucous neck cells: 45 nCPM
colonocytes: 32 nCPM
paneth cells: 31 nCPM
gastric chief cells: 30 nCPM

Immune cell

NK-cell: 36 nTPM
plasmacytoid DC: 32 nTPM
naive B-cell: 22 nTPM
myeloid DC: 19 nTPM
gdT-cell: 19 nTPM
memory B-cell: 18 nTPM

Brain region

cerebral cortex: 46 nTPM
medulla oblongata: 45 nTPM
pons: 42 nTPM
midbrain: 41 nTPM
basal ganglia: 40 nTPM
thalamus: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SGSM3.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 197 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual developmental disorder, autosomal recessive 84
SGSM3-related intellectual disability

Disease | ImmuneIEDB

Conditions an epitope on SGSM3 was assayed in.

human immunodeficiency virus infectious disease T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.9
gnomAD pLI: 0
gnomAD missense Z: 0.16
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SGSM3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SGSM3 as an antibody target. Whether an autoantibody or antibody against SGSM3 could matter depends on whether native SGSM3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SGSM3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SGSM3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...