Seroatlas · Human Serome Atlas

TMBIM1

Protein lifeguard 3

Also known as: LFG3, LFG3_HUMAN, PP1201, RECS1

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

Protein identityUniProt · HPA

UniProt accession: Q969X1
Gene: TMBIM1
Ensembl: ENSG00000135926
Chromosome: 2
Canonical length: 311 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Vesicles

OverviewNCBI Gene

Enables death receptor binding activity. Involved in negative regulation of Fas signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of protein localization to plasma membrane. Located in Golgi membrane; endosome membrane; and lysosomal membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

311 residues, UniProt reviewed canonical sequence.

>Q969X1|TMBIM1
     1  MSNPSAPPPY EDRNPLYPGP PPPGGYGQPS VLPGGYPAYP GYPQPGYGHP AGYPQPMPPT
    61  HPMPMNYGPG HGYDGEERAV SDSFGPGEWD DRKVRHTFIR KVYSIISVQL LITVAIIAIF
   121  TFVEPVSAFV RRNVAVYYVS YAVFVVTYLI LACCQGPRRR FPWNIILLTL FTFAMGFMTG
   181  TISSMYQTKA VIIAMIITAV VSISVTIFCF QTKVDFTSCT GLFCVLGIVL LVTGIVTSIV
   241  LYFQYVYWLH MLYAALGAIC FTLFLAYDTQ LVLGNRKHTI SPEDYITGAL QIYTDIIYIF
   301  TFVLQLMGDR N

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMBIM1 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: Other membrane
Secreted: No
Transmembrane segments: 7
Mean surface accessibility (rSASA): 0.37
Highest tissue expression: 333 nTPM

Expression across tissuesHPA

Tissue

esophagus: 333 nTPM
blood vessel: 288 nTPM
pancreas: 237 nTPM
adipose tissue: 216 nTPM
vagina: 215 nTPM
stomach: 206 nTPM

Single-cell type

esophageal apical cells: 1,556 nCPM
platelets: 634 nCPM
esophageal suprabasal cells: 409 nCPM
syncytiotrophoblasts: 369 nCPM
pancreatic acinar cells: 351 nCPM
enterocytes: 292 nCPM

Immune cell

basophil: 355 nTPM
eosinophil: 299 nTPM
non-classical monocyte: 223 nTPM
total PBMC: 190 nTPM
intermediate monocyte: 173 nTPM
neutrophil: 167 nTPM

Brain region

medulla oblongata: 313 nTPM
midbrain: 200 nTPM
white matter: 198 nTPM
spinal cord: 197 nTPM
pons: 189 nTPM
thalamus: 185 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMBIM1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 77 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Moyamoya angiopathy

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): 1.12
gnomAD pLI: 0
gnomAD missense Z: 0.68
DepMap mean gene effect: -0.05
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

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMBIM1 as an antibody target. Whether an autoantibody or antibody against TMBIM1 could matter depends on whether native TMBIM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMBIM1 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 TMBIM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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