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Aliases for TUFT1 Gene

Aliases for TUFT1 Gene

  • Tuftelin 1 2 3
  • 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 hypocalcified amelogenesis imperfecta. GO annotations related to this gene include structural constituent of tooth enamel. An important paralog of this gene is POLR2M.

UniProtKB/Swiss-Prot for TUFT1 Gene

  • Involved in the mineralization and structural organization of enamel.

Gene Wiki entry for TUFT1 Gene

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

Genomics for TUFT1 Gene

Regulatory Elements for TUFT1 Gene

Genomic Location for TUFT1 Gene

151,540,305 bp from pter
151,583,583 bp from pter
43,279 bases
Plus strand

Genomic View for TUFT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for TUFT1 Gene at MOPED

Post-translational modifications for TUFT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TUFT1 Gene

No data available for DME Specific Peptides for TUFT1 Gene

Domains for TUFT1 Gene

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



  • Q9NNX1
  • Belongs to the tuftelin family.
genes like me logo Genes that share domains with TUFT1: view

No data available for Gene Families for TUFT1 Gene

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.

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

Phenotypes for TUFT1 Gene

GenomeRNAi human phenotypes for TUFT1:
genes like me logo Genes that share phenotypes with TUFT1: view

miRNA for TUFT1 Gene

miRTarBase miRNAs that target TUFT1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

Jensen Localization Image for TUFT1 Gene COMPARTMENTS Subcellular localization image for TUFT1 gene
Compartment Confidence
extracellular 5
cytosol 2
nucleus 2
cytoskeleton 1
golgi apparatus 1
mitochondrion 1

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 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:0042476 odontogenesis NAS 12489194
genes like me logo Genes that share ontologies with TUFT1: view

No data available for Pathways by source for TUFT1 Gene

Compounds for TUFT1 Gene

(1) Novoseek inferred chemical compound relationships for TUFT1 Gene

Compound -log(P) Hits PubMed IDs
gold 17.4 1
genes like me logo Genes that share compounds with TUFT1: view

Transcripts for TUFT1 Gene

Unigene Clusters for TUFT1 Gene

Tuftelin 1:
Representative Sequences:

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 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) (9.9) and Skin - Not Sun Exposed (Suprapubic) (7.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TUFT1 Gene

SOURCE GeneReport for Unigene cluster for TUFT1 Gene Hs.489922

mRNA Expression by UniProt/SwissProt for TUFT1 Gene

Tissue specificity: Present in the extracellular enamel and is mainly associated with the crystal component.
genes like me logo Genes that share expressions with TUFT1: view

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 35
  • 99.06 (n)
  • 98.21 (a)
TUFT1 36
  • 89 (a)
(Bos Taurus)
Mammalia TUFT1 35
  • 90.43 (n)
  • 89.23 (a)
TUFT1 36
  • 89 (a)
(Canis familiaris)
Mammalia TUFT1 35
  • 87.78 (n)
  • 84.36 (a)
(Mus musculus)
Mammalia Tuft1 35
  • 89.23 (n)
  • 88.97 (a)
Tuft1 16
Tuft1 36
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia TUFT1 36
  • 56 (a)
(Gallus gallus)
Aves LOC101749610 35
  • 62.31 (n)
  • 54.25 (a)
TUFT1 36
  • 56 (a)
(Anolis carolinensis)
Reptilia TUFT1 36
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tuft1 35
  • 50.62 (n)
  • 40.96 (a)
(Danio rerio)
Actinopterygii tuft1a 35
  • 50.09 (n)
  • 35.03 (a)
tuft1a 36
  • 32 (a)
tuft1b 36
  • 31 (a)
Species with no ortholog for TUFT1:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs12749 -- 151,583,265(-) CAAGG(C/T)TGTAG utr-variant-3-prime
rs868138 -- 151,559,896(-) GAATC(A/G)CTTGA intron-variant, upstream-variant-2KB
rs1342928 -- 151,549,197(+) AGAGT(A/C)CCCAG intron-variant
rs1418822 -- 151,575,659(+) TGGAA(A/G)TTATG intron-variant
rs1539490 -- 151,570,150(+) TCTGG(C/T)GCAAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv522757 CNV Loss 19592680

Relevant External Links for TUFT1 Gene

HapMap Linkage Disequilibrium report

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

Disorders for TUFT1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for TUFT1 Gene including...

Search for TUFT1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for TUFT1 Gene

(2) Novoseek inferred disease relationships for TUFT1 Gene

Disease -log(P) Hits PubMed IDs
amelogenesis imperfecta 92.4 3
genetic disorder 46.1 1

Relevant External Links for TUFT1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TUFT1: view

No data available for UniProtKB/Swiss-Prot 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 L.W. (Mamm. Genome 1994) 2 3 4 23
  2. The human tuftelin gene: cloning and characterization. (PMID: 11733143) Mao Z. … Deutsch D. (Gene 2001) 3 4 23
  3. Enamel formation genes are associated with high caries experience in Turkish children. (PMID: 18781068) Patir A. … Vieira A.R. (Caries Res. 2008) 3 23 48
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for TUFT1 Gene

Sources for TUFT1 Gene

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