Seroatlas · Human Serome Atlas

RASSF1

Ras association domain-containing protein 1

Also known as: 123F2, NORE2A, RASF1_HUMAN, RDA32, REH3P21

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

Protein identityUniProt · HPA

UniProt accession: Q9NS23
Gene: RASSF1
Ensembl: ENSG00000068028
Chromosome: 3
Canonical length: 344 aa
Protein class: Human disease related genes, Predicted intracellular proteins, RAS pathway related proteins

OverviewNCBI Gene

This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011]

Canonical amino-acid sequenceUniProt

344 residues, UniProt reviewed canonical sequence.

>Q9NS23|RASSF1
     1  MSGEPELIEL RELAPAGRAG KGRTRLERAN ALRIARGTAC NPTRQLVPGR GHRFQPAGPA
    61  THTWCDLCGD FIWGVVRKGL QCARLSADCK FTCHYRCRAL VCLDCCGPRD LGWEPAVERD
   121  TNVDEPVEWE TPDLSQAEIE QKIKEYNAQI NSNLFMSLNK DGSYTGFIKV QLKLVRPVSV
   181  PSSKKPPSLQ DARRGPGRGT SVRRRTSFYL PKDAVKHLHV LSRTRAREVI EALLRKFLVV
   241  DDPRKFALFE RAERHGQVYL RKLLDDEQPL RLRLLAGPSD KALSFVLKEN DSGEVNWDAF
   301  SMPELHNFLR ILQREEEEHL RQILQKYSYC RQKIQEALHA CPLG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RASSF1 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): 0.39
Highest tissue expression: 80 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 80 nTPM
spleen: 70 nTPM
lung: 59 nTPM
adipose tissue: 48 nTPM
heart muscle: 47 nTPM
breast: 45 nTPM

Single-cell type

nk-cells: 152 nCPM
t-cells: 100 nCPM
vascular smooth muscle cells: 95 nCPM
innate lymphoid cells: 90 nCPM
monocyte progenitors: 90 nCPM
megakaryocyte-erythroid progenitors: 85 nCPM

Immune cell

basophil: 259 nTPM
gdT-cell: 92 nTPM
eosinophil: 81 nTPM
NK-cell: 78 nTPM
non-classical monocyte: 66 nTPM
memory CD8 T-cell: 64 nTPM

Brain region

white matter: 18 nTPM
medulla oblongata: 16 nTPM
spinal cord: 16 nTPM
thalamus: 15 nTPM
pons: 15 nTPM
midbrain: 14 nTPM

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): 1.21
gnomAD pLI: 0
gnomAD missense Z: 0.34
DepMap mean gene effect: 0.01
DepMap dependency class: none

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

Ras-associating domain
Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
SARAH domain
Ubiquitin-like domain superfamily
Ras association domain-containing protein 1-6
C1-like domain superfamily
Phorbol esters/diacylglycerol binding domain (C1 domain)
Ras association (RalGDS/AF-6) domain
Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
Ras association domain-containing protein 1, RA domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RASSF1 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 RASSF1 as an antibody target. Whether an autoantibody or antibody against RASSF1 could matter depends on whether native RASSF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RASSF1 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 RASSF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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