TUFT1
Tuftelin
Also known as: TUFT1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NNX1
- Gene
- TUFT1
- Ensembl
- ENSG00000143367
- Chromosome
- 1
- Canonical length
- 390 aa
- Protein class
- Predicted intracellular proteins, Predicted secreted proteins
- Subcellular location
- Vesicles
- Secretome location
- Secreted - unknown location
OverviewNCBI Gene
Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014]
Canonical amino-acid sequenceUniProt
390 residues, UniProt reviewed canonical sequence.
>Q9NNX1|TUFT1
1 MNGTRNWCTL VDVHPEDQAA GSVDILRLTL QGELTGDELE HIAQKAGRKT YAMVSSHSAG
61 HSLASELVES HDGHEEIIKV YLKGRSGDKM IHEKNINQLK SEVQYIQEAR NCLQKLREDI
121 SSKLDRNLGD SLHRQEIQVV LEKPNGFSQS PTALYSSPPE VDTCINEDVE SLRKTVQDLL
181 AKLQEAKRQH QSDCVAFEVT LSRYQREAEQ SNVALQREED RVEQKEAEVG ELQRRLLGME
241 TEHQALLAKV REGEVALEEL RSNNADCQAE REKAATLEKE VAGLREKIHH LDDMLKSQQR
301 KVRQMIEQLQ NSKAVIQSKD ATIQELKEKI AYLEAENLEM HDRMEHLIEK QISHGNFSTQ
361 ARAKTENPGS IRISKPPSPK PMPVIRVVETLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TUFT1 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
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.55
- Highest tissue expression
- 105 nTPM
Expression across tissuesHPA
Tissue
- skin: 105 nTPM
- esophagus: 44 nTPM
- vagina: 25 nTPM
- cervix: 23 nTPM
- salivary gland: 17 nTPM
- pancreas: 16 nTPM
Single-cell type
- esophageal apical cells: 201 nCPM
- ocular epithelial cells: 154 nCPM
- endometrial glandular cells: 145 nCPM
- urothelial cells: 104 nCPM
- esophageal suprabasal cells: 103 nCPM
- renal connecting tubule cells: 99 nCPM
Immune cell
- basophil: 5.2 nTPM
- T-reg: 3.5 nTPM
- neutrophil: 2.3 nTPM
- memory CD4 T-cell: 0.9 nTPM
- myeloid DC: 0.9 nTPM
- naive CD4 T-cell: 0.8 nTPM
Brain region
- hypothalamus: 12 nTPM
- pons: 11 nTPM
- cerebellum: 10 nTPM
- basal ganglia: 9.5 nTPM
- cerebral cortex: 9.1 nTPM
- midbrain: 8.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TUFT1.
Disease | AllUniProt
Conditions TUFT1 is implicated in, by any mechanism.
- Woolly hair-skin fragility syndrome (WHSF) MIM:620415
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 74 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Woolly hair-skin fragility 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)
- 0.71
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.9
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% 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 TUFT1 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 TUFT1 as an antibody target. Whether an autoantibody or antibody against TUFT1 could matter depends on whether native TUFT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TUFT1 is annotated as secreted, so native TUFT1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label TUFT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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