Seroatlas · Human Serome Atlas

STON1

Stonin-1

Also known as: SBLF, STON1_HUMAN, stoned-b1

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

Protein identityUniProt · HPA

UniProt accession: Q9Y6Q2
Gene: STON1
Ensembl: ENSG00000243244
Chromosome: 2
Canonical length: 735 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

Canonical amino-acid sequenceUniProt

735 residues, UniProt reviewed canonical sequence.

>Q9Y6Q2|STON1
     1  MCSTNPGKWV TFDDDPAVQS SQKSKNFPLE NQGVCRPNGL KLNLPGLREF PSGSSSTSST
    61  PLSSPIVDFY FSPGPPSNSP LSTPTKDFPG FPGIPKAGTH VLYPIPESSS DSPLAISGGE
   121  SSLLPTRPTC LSHALLPSDH SCTHPTPKVG LPDEVNPQQA ESLGFQSDDL PQFQYFREDC
   181  AFSSPFWKDE GSDSHFTLDP PGSKKMFSSR NKEMPIDQKS LNKCSLNYIC EKLEHLQSAE
   241  NQDSLRSLSM HCLCAEENAS SFVPHTLFRS QPKSGWSFML RIPEKKNMMS SRQWGPIFLK
   301  VLPGGILQMY YEQGLEKPFK EIQLDPYCRL SEPKVENFSV AGKIHTVKIE HVSYTEKRKY
   361  HSKTEVVHEP DIEQMLKLGS TSYHDFLDFL TTVEEELMKL PAVSKPKKNY EEQEISLEIV
   421  DNFWGKVTKE GKFVESAVIT QIYCLCFVNG NLECFLTLND LELPKRDESY YEKDSEKKGI
   481  DILDYHFHKC VNVQEFEQSR IIKFVPLDAC RFELMRFKTL YNGDNLPFSL KSVVVVQGAY
   541  VELQAFVNMA SLAQRSSYAG SLRSCDNIRI HFPVPSQWIK ALWTMNLQRQ KSLKAKMNRR
   601  ACLGSLQELE SEPVIQVTVG SAKYESAYQA VVWKIDRLPD KNSSLDHPHC LSYKLELGSD
   661  QEIPSDWYPF ATVQFSVPDT CASRTEVRSL GVESDVQPQK HVQQRACYNI QVEIEKKWIK
   721  IDGEDPDKIG DCITQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against STON1 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): 0.45
Highest tissue expression: 32 nTPM

Expression across tissuesHPA

Tissue

colon: 32 nTPM
ovary: 24 nTPM
endometrium: 24 nTPM
smooth muscle: 24 nTPM
urinary bladder: 23 nTPM
prostate: 20 nTPM

Single-cell type

bergmann glia: 314 nCPM
choroid plexus epithelial cells: 92 nCPM
ependymal cells: 64 nCPM
oligodendrocyte progenitor cells: 25 nCPM
astrocytes: 17 nCPM
oligodendrocytes: 11 nCPM

Immune cell

basophil: 1.9 nTPM
neutrophil: 1 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

medulla oblongata: 69 nTPM
white matter: 58 nTPM
spinal cord: 53 nTPM
midbrain: 27 nTPM
pons: 26 nTPM
cerebellum: 21 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): 1.12
gnomAD pLI: 0
gnomAD missense Z: -2.51
DepMap mean gene effect: 0.06
DepMap dependency class: none

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

clathrin adaptor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads STON1 as an antibody target. Whether an autoantibody or antibody against STON1 could matter depends on whether native STON1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

STON1 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 STON1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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