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Aliases for TUFT1 Gene

Aliases for TUFT1 Gene

  • Tuftelin 1 2 3 5
  • Tuftelin 3

External Ids for TUFT1 Gene

Previous GeneCards Identifiers for TUFT1 Gene

  • GC01P149354
  • GC01P147260
  • GC01P148287
  • GC01P148729
  • GC01P148325
  • GC01P149779
  • GC01P122890

Summaries for TUFT1 Gene

Entrez Gene Summary for TUFT1 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]

GeneCards Summary for TUFT1 Gene

TUFT1 (Tuftelin 1) is a Protein Coding gene. Diseases associated with TUFT1 include Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 and Dentine Erosion. Gene Ontology (GO) annotations related to this gene include structural constituent of tooth enamel. An important paralog of this gene is GCOM1.

UniProtKB/Swiss-Prot for TUFT1 Gene

  • Involved in the mineralization and structural organization of enamel.

Gene Wiki entry for TUFT1 Gene

Additional gene information for TUFT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUFT1 Gene

Genomics for TUFT1 Gene

GeneHancer (GH) Regulatory Elements for TUFT1 Gene

Promoters and enhancers for TUFT1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I151537 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 559.4 -0.1 -94 7.3 HDGF PKNOX1 CLOCK ARID4B NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B YY1 TUFT1 ENSG00000232536 POGZ CGN LYSMD1 SNX27 HRNR CELF3 ENSG00000227045 RIIAD1
GH01I151610 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 +71.8 71799 3.5 HDGF PKNOX1 SMAD1 FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 ENSG00000250734 SNX27 SETDB1 PIP5K1A ZNF687 CTSK PI4KB C1orf56 UBE2D3P3 GOLPH3L
GH01I151606 Enhancer 1.3 FANTOM5 Ensembl ENCODE 16.1 +66.7 66703 1.9 PKNOX1 CLOCK MZF1 SIN3A RFX5 ZNF335 ZNF121 ZNF366 SCRT2 FOS TUFT1 RPS10P6 MIR554 ENSG00000252840 ENSG00000227045 CGN RIIAD1 CELF3 ENSG00000232536 ENSG00000232937
GH01I151596 Enhancer 1 ENCODE 16.6 +56.3 56281 0.9 PKNOX1 SMAD1 FOXA2 ARNT SIN3A FEZF1 ZNF766 FOS KLF13 DEK TUFT1 RNU6-1062P RPS10P6 ENSG00000232536 MIR554 ENSG00000227045 RIIAD1 CELF3 ENSG00000252840 CGN
GH01I151494 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.9 -45.2 -45171 1.5 PKNOX1 SIN3A FEZF1 ZNF2 IRF4 ZNF213 ATF7 FOS RUNX3 KLF13 POGZ LYSMD1 ENSG00000252840 TUFT1 MIR554 RPS10P6 ENSG00000232536 ENSG00000227045 RIIAD1 CELF3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TUFT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TUFT1 gene promoter:

Genomic Locations for TUFT1 Gene

Genomic Locations for TUFT1 Gene
43,284 bases
Plus strand

Genomic View for TUFT1 Gene

Genes around TUFT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUFT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUFT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUFT1 Gene

Proteins for TUFT1 Gene

  • Protein details for TUFT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2RD57
    • D3DV21
    • D3DV22
    • Q5T384
    • Q5T385
    • Q9BU28
    • Q9H5L1

    Protein attributes for TUFT1 Gene

    390 amino acids
    Molecular mass:
    44264 Da
    Quaternary structure:
    • Interacts with TFIP11.
    • Sequence=BAB15615.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TUFT1 Gene


neXtProt entry for TUFT1 Gene

Post-translational modifications for TUFT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TUFT1 Gene

Domains & Families for TUFT1 Gene

Gene Families for TUFT1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TUFT1 Gene


Suggested Antigen Peptide Sequences for TUFT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the tuftelin family.
  • Belongs to the tuftelin family.
genes like me logo Genes that share domains with TUFT1: view

Function for TUFT1 Gene

Molecular function for TUFT1 Gene

GENATLAS Biochemistry:
tuftelin,acidic enamelin protein,that plays a major role in the mineralization and structural organization of enamel
UniProtKB/Swiss-Prot Function:
Involved in the mineralization and structural organization of enamel.

Phenotypes From GWAS Catalog for TUFT1 Gene

Gene Ontology (GO) - Molecular Function for TUFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
GO:0030345 structural constituent of tooth enamel NAS 12489194
genes like me logo Genes that share ontologies with TUFT1: view
genes like me logo Genes that share phenotypes with TUFT1: view

Animal Models for TUFT1 Gene

MGI Knock Outs for TUFT1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TUFT1 Gene

Localization for TUFT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUFT1 Gene

Secreted. Note=Secreted at a very early stage of enamel formation, concentrated at the dentin-enamel junction and tightly bound to the surface of the growing crystallites. {ECO:0000250 UniProtKB:P27628}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TUFT1 gene
Compartment Confidence
extracellular 5
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TUFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 12489194
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with TUFT1: view

Pathways & Interactions for TUFT1 Gene

SuperPathways for TUFT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TUFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030282 bone mineralization NAS 12489194
GO:0031214 biomineral tissue development IEA --
GO:0042476 odontogenesis NAS 12489194
genes like me logo Genes that share ontologies with TUFT1: view

No data available for Pathways by source and SIGNOR curated interactions for TUFT1 Gene

Drugs & Compounds for TUFT1 Gene

(1) Additional Compounds for TUFT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TUFT1: view

Transcripts for TUFT1 Gene

Unigene Clusters for TUFT1 Gene

Tuftelin 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUFT1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - - -
SP3: - - -

Relevant External Links for TUFT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TUFT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TUFT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUFT1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x9.9) and Skin - Not Sun Exposed (Suprapubic) (x7.8).

Protein differential expression in normal tissues from HIPED for TUFT1 Gene

This gene is overexpressed in Skin (49.2) and Cervix (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TUFT1 Gene

Protein tissue co-expression partners for TUFT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TUFT1 Gene:


SOURCE GeneReport for Unigene cluster for TUFT1 Gene:


mRNA Expression by UniProt/SwissProt for TUFT1 Gene:

Tissue specificity: Present in the extracellular enamel and is mainly associated with the crystal component.

Evidence on tissue expression from TISSUES for TUFT1 Gene

  • Kidney(4.3)
genes like me logo Genes that share expression patterns with TUFT1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TUFT1 Gene

Orthologs for TUFT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TUFT1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TUFT1 33 34
  • 99.06 (n)
(Bos Taurus)
Mammalia TUFT1 33 34
  • 90.43 (n)
(Mus musculus)
Mammalia Tuft1 33 16 34
  • 89.23 (n)
(Canis familiaris)
Mammalia TUFT1 33
  • 87.78 (n)
(Ornithorhynchus anatinus)
Mammalia TUFT1 34
  • 56 (a)
(Gallus gallus)
Aves LOC101749610 33
  • 62.31 (n)
TUFT1 34
  • 56 (a)
(Anolis carolinensis)
Reptilia TUFT1 34
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tuft1 33
  • 50.62 (n)
(Danio rerio)
Actinopterygii tuft1a 33 34
  • 50.09 (n)
tuft1b 34
  • 31 (a)
Species where no ortholog for TUFT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TUFT1 Gene

Gene Tree for TUFT1 (if available)
Gene Tree for TUFT1 (if available)

Paralogs for TUFT1 Gene

Paralogs for TUFT1 Gene

(1) SIMAP similar genes for TUFT1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TUFT1: view

Variants for TUFT1 Gene

Sequence variations from dbSNP and Humsavar for TUFT1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000009981 -- 151,542,189(+) T/G intron_variant
rs1000011730 -- 151,582,874(+) A/G 3_prime_UTR_variant
rs1000111679 -- 151,576,157(+) A/G intron_variant
rs1000164713 -- 151,545,059(+) C/T intron_variant
rs1000271732 -- 151,562,924(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TUFT1 Gene

Variant ID Type Subtype PubMed ID
esv3587531 CNV loss 21293372
nsv1127031 CNV deletion 24896259
nsv522757 CNV loss 19592680
nsv946387 CNV duplication 23825009
nsv997511 CNV gain 25217958

Variation tolerance for TUFT1 Gene

Residual Variation Intolerance Score: 76.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.05; 60.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUFT1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUFT1 Gene

Disorders for TUFT1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TUFT1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2
  • amelogenesis imperfecta 3, hypoplastic type, formerly; aih3, formerly
dentine erosion
dental caries
  • dental caries extending into pulp
hypocalcified amelogenesis imperfecta
  • amelogenesis imperfecta type 3
tooth erosion
  • generalized erosion
- elite association - COSMIC cancer census association via MalaCards
Search TUFT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TUFT1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TUFT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TUFT1 Gene

Publications for TUFT1 Gene

  1. Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by fluorescence in situ hybridization. (PMID: 7919663) Deutsch D … Fisher LW (Mammalian genome : official journal of the International Mammalian Genome Society 1994) 2 3 4 22 58
  2. Enamel formation genes are associated with high caries experience in Turkish children. (PMID: 18781068) Patir A … Vieira AR (Caries research 2008) 3 22 44 58
  3. The human tuftelin gene: cloning and characterization. (PMID: 11733143) Mao Z … Deutsch D (Gene 2001) 3 4 22 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for TUFT1 Gene

Sources for TUFT1 Gene

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