Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7286
Gene name Gene Name - the full gene name approved by the HGNC.
Tuftelin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TUFT1
Synonyms (NCBI Gene) Gene synonyms aliases
WHSF
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary of gene provided in NCBI Entrez 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 g
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT038261 hsa-miR-330-5p CLASH 23622248
MIRT038261 hsa-miR-330-5p CLASH 23622248
MIRT437662 hsa-miR-195-5p Microarray, qRT-PCR 22815788
MIRT684430 hsa-miR-508-5p HITS-CLIP 23313552
MIRT684429 hsa-miR-3664-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600087 12422 ENSG00000143367
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amelogenesis Imperfecta Associate 19530186
Ascites Associate 34163115
Carcinogenesis Associate 12387890
Carcinoma Hepatocellular Associate 32760198, 34163115
Carcinoma Hepatocellular Stimulate 35769513
Carcinoma Renal Cell Associate 34257606
Colorectal Neoplasms Associate 37986103
Dental Caries Associate 18781068, 23028741, 25373699, 25531160, 29068589
Developmental Defects of Enamel Associate 28382465
Ectrodactyly Ectodermal Dysplasia And Cleft Lip Palate Syndrome 1 Associate 25531160