Gene Gene information from NCBI Gene database.
Entrez ID 7286
Gene name Tuftelin 1
Gene symbol TUFT1
Synonyms (NCBI Gene)
WHSF
Chromosome 1
Chromosome location 1q21.3
Summary 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 g
miRNA miRNA information provided by mirtarbase database.
305
miRTarBase ID miRNA Experiments Reference
MIRT038261 hsa-miR-330-5p CLASH 23622248
MIRT038261 hsa-miR-330-5p CLASH 23622248
MIRT437662 hsa-miR-195-5p MicroarrayqRT-PCR 22815788
MIRT684430 hsa-miR-508-5p HITS-CLIP 23313552
MIRT684429 hsa-miR-3664-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21516116, 25416956, 29892012, 31515488, 32296183, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 12489194
GO:0005665 Component RNA polymerase II, core complex IBA
GO:0005737 Component Cytoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600087 12422 ENSG00000143367
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NNX1
Protein name Tuftelin
Protein function Involved in the structural organization of the epidermis (PubMed:36689522). Involved in the mineralization and structural organization of enamel.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in the epidermis (at protein level) (PubMed:36689522). Present in the extracellular enamel and is mainly associated with the crystal component. {ECO:0000269|PubMed:1874744, ECO:0000269|PubMed:36689522}.
Sequence
MNGTRNWCTLVDVHPEDQAAGSVDILRLTLQGELTGDELEHIAQKAGRKTYAMVSSHSAG
HSLASELVESHDGHEEIIKVYLKGRSGDKMIHEKNINQLKSEVQYIQEARNCLQKLREDI
SSKLDRNLGDSLHRQEIQVVLEKPNGFSQSPTALYSSPPEVDTCINEDVESLRKTVQDLL
AKLQEAKRQHQSDCVAFEVTLSRYQREAEQSNVALQREEDRVEQKEAEVGELQRRLLGME
TEHQALLAKVREGEVALEELRSNNADCQAEREKAATLEKEVAGLREKIHHLDDMLKSQQR
KVRQMIEQLQNSKAVIQSKDATIQELKEKIAYLEAENLEMHDRMEHLIEKQISHGNFSTQ
ARAKTENPGSIRISKPPSPKPMPVIRVVET
Sequence length 390
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Woolly hair-skin fragility syndrome Pathogenic rs2526112427, rs932956802 RCV003234607
RCV003234608
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Amelogenesis Imperfecta Associate 19530186
★☆☆☆☆
Found in Text Mining only
Ascites Associate 34163115
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 12387890
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 32760198, 34163115
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Stimulate 35769513
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 34257606
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 37986103
★☆☆☆☆
Found in Text Mining only
Dental Caries Associate 18781068, 23028741, 25373699, 25531160, 29068589
★☆☆☆☆
Found in Text Mining only
Developmental Defects of Enamel Associate 28382465
★☆☆☆☆
Found in Text Mining only
Ectrodactyly Ectodermal Dysplasia And Cleft Lip Palate Syndrome 1 Associate 25531160
★☆☆☆☆
Found in Text Mining only