Seroatlas · Human Serome Atlas

SOS1

Son of sevenless homolog 1

Also known as: GF1, GINGF, HGF, SOS1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q07889
Gene: SOS1
Ensembl: ENSG00000115904
Chromosome: 2
Canonical length: 1333 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, RAS pathway related proteins
Subcellular location: Cytosol

OverviewNCBI Gene

This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1333 residues, UniProt reviewed canonical sequence.

>Q07889|SOS1
     1  MQAQQLPYEF FSEENAPKWR GLLVPALKKV QGQVHPTLES NDDALQYVEE LILQLLNMLC
    61  QAQPRSASDV EERVQKSFPH PIDKWAIADA QSAIEKRKRR NPLSLPVEKI HPLLKEVLGY
   121  KIDHQVSVYI VAVLEYISAD ILKLVGNYVR NIRHYEITKQ DIKVAMCADK VLMDMFHQDV
   181  EDINILSLTD EEPSTSGEQT YYDLVKAFMA EIRQYIRELN LIIKVFREPF VSNSKLFSAN
   241  DVENIFSRIV DIHELSVKLL GHIEDTVEMT DEGSPHPLVG SCFEDLAEEL AFDPYESYAR
   301  DILRPGFHDR FLSQLSKPGA ALYLQSIGEG FKEAVQYVLP RLLLAPVYHC LHYFELLKQL
   361  EEKSEDQEDK ECLKQAITAL LNVQSGMEKI CSKSLAKRRL SESACRFYSQ QMKGKQLAIK
   421  KMNEIQKNID GWEGKDIGQC CNEFIMEGTL TRVGAKHERH IFLFDGLMIC CKSNHGQPRL
   481  PGASNAEYRL KEKFFMRKVQ INDKDDTNEY KHAFEIILKD ENSVIFSAKS AEEKNNWMAA
   541  LISLQYRSTL ERMLDVTMLQ EEKEEQMRLP SADVYRFAEP DSEENIIFEE NMQPKAGIPI
   601  IKAGTVIKLI ERLTYHMYAD PNFVRTFLTT YRSFCKPQEL LSLIIERFEI PEPEPTEADR
   661  IAIENGDQPL SAELKRFRKE YIQPVQLRVL NVCRHWVEHH FYDFERDAYL LQRMEEFIGT
   721  VRGKAMKKWV ESITKIIQRK KIARDNGPGH NITFQSSPPT VEWHISRPGH IETFDLLTLH
   781  PIEIARQLTL LESDLYRAVQ PSELVGSVWT KEDKEINSPN LLKMIRHTTN LTLWFEKCIV
   841  ETENLEERVA VVSRIIEILQ VFQELNNFNG VLEVVSAMNS SPVYRLDHTF EQIPSRQKKI
   901  LEEAHELSED HYKKYLAKLR SINPPCVPFF GIYLTNILKT EEGNPEVLKR HGKELINFSK
   961  RRKVAEITGE IQQYQNQPYC LRVESDIKRF FENLNPMGNS MEKEFTDYLF NKSLEIEPRN
  1021  PKPLPRFPKK YSYPLKSPGV RPSNPRPGTM RHPTPLQQEP RKISYSRIPE SETESTASAP
  1081  NSPRTPLTPP PASGASSTTD VCSVFDSDHS SPFHSSNDTV FIQVTLPHGP RSASVSSISL
  1141  TKGTDEVPVP PPVPPRRRPE SAPAESSPSK IMSKHLDSPP AIPPRQPTSK AYSPRYSISD
  1201  RTSISDPPES PPLLPPREPV RTPDVFSSSP LHLQPPPLGK KSDHGNAFFP NSPSPFTPPP
  1261  PQTPSPHGTR RHLPSPPLTQ EVDLHSIAGP PVPPRQSTSQ HIPKLPPKTY KREHTHPSMH
  1321  RDGPPLLENA HSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOS1 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.36
Highest tissue expression: 20 nTPM

Expression across tissuesHPA

Tissue

tongue: 20 nTPM
ovary: 19 nTPM
parathyroid gland: 19 nTPM
tonsil: 19 nTPM
placenta: 18 nTPM
adipose tissue: 17 nTPM

Single-cell type

megakaryocyte progenitors: 1,356 nCPM
adipocytes: 705 nCPM
urothelial cells: 486 nCPM
myonuclei: 442 nCPM
innate lymphoid cells: 394 nCPM
neutrophil progenitors: 383 nCPM

Immune cell

MAIT T-cell: 1.8 nTPM
NK-cell: 1.8 nTPM
memory B-cell: 1.6 nTPM
naive CD4 T-cell: 1.5 nTPM
gdT-cell: 1.4 nTPM
memory CD8 T-cell: 1.4 nTPM

Brain region

cerebellum: 35 nTPM
midbrain: 32 nTPM
hypothalamus: 32 nTPM
cerebral cortex: 31 nTPM
white matter: 30 nTPM
basal ganglia: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOS1.

Disease | AllUniProt

Conditions SOS1 is implicated in, by any mechanism.

Fibromatosis, gingival, 1 (GINGF1) MIM:135300
Noonan syndrome 4 (NS4) MIM:610733

Disease | GeneticClinVar

75 pathogenic / likely-pathogenic of 2,203 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Noonan syndrome 4
RASopathy
Noonan syndrome
Fibromatosis, gingival, 1
Noonan syndrome and Noonan-related syndrome

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): 0.14
gnomAD pLI: 1
gnomAD missense Z: 3.05
DepMap mean gene effect: -0.29
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 SOS1 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 SOS1 as an antibody target. Whether an autoantibody or antibody against SOS1 could matter depends on whether native SOS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SOS1 is annotated at the cell surface, where native SOS1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SOS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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