Seroatlas · Human Serome Atlas

SUFU

Suppressor of fused homolog

Also known as: PRO1280, SUFU_HUMAN, SUFUH, SUFUXL

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

Protein identityUniProt · HPA

UniProt accession: Q9UMX1
Gene: SUFU
Ensembl: ENSG00000107882
Chromosome: 10
Canonical length: 484 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Primary cilium
Quaternary structure: Homodimer

OverviewNCBI Gene

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

484 residues, UniProt reviewed canonical sequence.

>Q9UMX1|SUFU
     1  MAELRPSGAP GPTAPPAPGP TAPPAFASLF PPGLHAIYGE CRRLYPDQPN PLQVTAIVKY
    61  WLGGPDPLDY VSMYRNVGSP SANIPEHWHY ISFGLSDLYG DNRVHEFTGT DGPSGFGFEL
   121  TFRLKRETGE SAPPTWPAEL MQGLARYVFQ SENTFCSGDH VSWHSPLDNS ESRIQHMLLT
   181  EDPQMQPVQT PFGVVTFLQI VGVCTEELHS AQQWNGQGIL ELLRTVPIAG GPWLITDMRR
   241  GETIFEIDPH LQERVDKGIE TDGSNLSGVS AKCAWDDLSR PPEDDEDSRS ICIGTQPRRL
   301  SGKDTEQIRE TLRRGLEINS KPVLPPINPQ RQNGLAHDRA PSRKDSLESD SSTAIIPHEL
   361  IRTRQLESVH LKFNQESGAL IPLCLRGRLL HGRHFTYKSI TGDMAITFVS TGVEGAFATE
   421  EHPYAAHGPW LQILLTEEFV EKMLEDLEDL TSPEEFKLPK EYSWPEKKLK VSILPDVVFD
   481  SPLH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SUFU 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): 0.32
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

skin: 14 nTPM
testis: 11 nTPM
parathyroid gland: 10 nTPM
cervix: 8.9 nTPM
esophagus: 8.8 nTPM
vagina: 8.7 nTPM

Single-cell type

early spermatids: 259 nCPM
late spermatids: 179 nCPM
proximal tubule cells: 93 nCPM
microglia: 93 nCPM
distal convoluted tubule cells: 85 nCPM
prostatic glandular cells: 76 nCPM

Immune cell

eosinophil: 2.9 nTPM
non-classical monocyte: 2.5 nTPM
intermediate monocyte: 2.4 nTPM
basophil: 2 nTPM
classical monocyte: 2 nTPM
myeloid DC: 1.9 nTPM

Brain region

cerebellum: 18 nTPM
amygdala: 18 nTPM
basal ganglia: 18 nTPM
medulla oblongata: 18 nTPM
cerebral cortex: 17 nTPM
midbrain: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SUFU.

Disease | AllUniProt

Conditions SUFU is implicated in, by any mechanism.

Medulloblastoma (MDB) MIM:155255
Joubert syndrome 32 (JBTS32) MIM:617757
Basal cell nevus syndrome 2 (BCNS2) MIM:620343

Disease | GeneticClinVar

129 pathogenic / likely-pathogenic of 1,917 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell nevus syndrome 2
SUFU-related disorder

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): 0.11
gnomAD pLI: 1
gnomAD missense Z: 1.93
DepMap mean gene effect: 0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

Suppressor of fused
Suppressor of fused, eukaryotic
Suppressor of fused-like domain
Suppressor of fused C-terminal
Suppressor of fused, N-terminal
Suppressor of fused, C-terminal domain superfamily
Suppressor of fused protein (SUFU)
Suppressor of Fused Gli/Ci N terminal binding domain

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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