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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 Hypocalcified Amelogenesis Imperfecta and Dental Caries. GO annotations related to this gene include structural constituent of tooth enamel. An important paralog of this gene is MYZAP.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUFT1 Gene

Genomics for TUFT1 Gene

Regulatory Elements for TUFT1 Gene

Enhancers for TUFT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G151606 1.5 FANTOM5 Ensembl ENCODE 16.1 +66.7 66704 1.9 PKNOX1 NFIB SIN3A RFX5 ZNF121 GATA2 ZNF366 SCRT2 FOS SMARCC1 TUFT1 RPS10P6 MIR554 ENSG00000252840 ENSG00000227045 CGN RIIAD1 CELF3 ENSG00000232536 ENSG00000232937
GH01G151574 1.1 ENCODE 18.5 +34.7 34736 1.4 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 FOS ZNF263 SP3 TUFT1 MIR554 ENSG00000252840 CGN ENSG00000232536 ENSG00000250734 SNX27 RNU6-1062P CELF3 MRPL9
GH01G151596 1.1 ENCODE 16.6 +56.3 56282 0.9 PKNOX1 FOXA2 ARNT SIN3A FEZF1 ZNF766 FOS DEK ZNF592 ZNF579 TUFT1 RNU6-1062P RPS10P6 ENSG00000232536 MIR554 ENSG00000227045 RIIAD1 CELF3 ENSG00000252840 CGN
GH01G151494 1.5 Ensembl ENCODE dbSUPER 10.9 -45.2 -45171 1.5 PKNOX1 SIN3A FEZF1 ZNF2 FOS SP3 JUNB TSHZ1 TBX21 ZNF518A ENSG00000252840 POGZ TUFT1 MIR554 RPS10P6 ENSG00000232536 ENSG00000227045 RIIAD1 CELF3 ENSG00000250734
GH01G151610 1.4 ENCODE dbSUPER 10.8 +71.8 71799 3.5 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 SETDB1 CTSK UBE2D3P3 GOLPH3L GABPB2 RPS10P6 MIR554 TUFT1 ENSG00000252840 ENSG00000227045
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TUFT1 on UCSC Golden Path with GeneCards custom track

Promoters for TUFT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000013631 600 1401 HDGF FOXA2 PKNOX1 MLX ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF766

Genomic Location for TUFT1 Gene

Chromosome:
1
Start:
151,540,300 bp from pter
End:
151,583,583 bp from pter
Size:
43,284 bases
Orientation:
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:
    Q9NNX1-TUFT1_HUMAN
    Recommended name:
    Tuftelin
    Protein Accession:
    Q9NNX1
    Secondary Accessions:
    • B2RD57
    • D3DV21
    • D3DV22
    • Q5T384
    • Q5T385
    • Q9BU28
    • Q9H5L1

    Protein attributes for TUFT1 Gene

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

    Alternative splice isoforms for TUFT1 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for TUFT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TUFT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NNX1

UniProtKB/Swiss-Prot:

TUFT1_HUMAN :
  • Belongs to the tuftelin family.
Family:
  • 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
genes like me logo Genes that share phenotypes with TUFT1: view

Animal Models for TUFT1 Gene

MGI Knock Outs for TUFT1:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: - - - -
SP2:
SP3: - - -
SP4:

Relevant External Links for TUFT1 Gene

GeneLoc Exon Structure for
TUFT1
ECgene alternative splicing isoforms for
TUFT1

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:

TUFT1

SOURCE GeneReport for Unigene cluster for TUFT1 Gene:

Hs.489922

mRNA Expression by UniProt/SwissProt for TUFT1 Gene:

Q9NNX1-TUFT1_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia TUFT1 34 35
  • 99.06 (n)
cow
(Bos Taurus)
Mammalia TUFT1 34 35
  • 90.43 (n)
mouse
(Mus musculus)
Mammalia Tuft1 34 16 35
  • 89.23 (n)
dog
(Canis familiaris)
Mammalia TUFT1 34
  • 87.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TUFT1 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101749610 34
  • 62.31 (n)
TUFT1 35
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TUFT1 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tuft1 34
  • 50.62 (n)
zebrafish
(Danio rerio)
Actinopterygii tuft1a 34 35
  • 50.09 (n)
tuft1b 35
  • 31 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TUFT1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1000009981 -- 151,542,189(+) CTATT(G/T)TTTTT intron-variant
rs1000011730 -- 151,582,874(+) GCTCC(A/G)TAATT utr-variant-3-prime
rs1000111679 -- 151,576,157(+) CTTGG(A/G)GTTTA intron-variant
rs1000164713 -- 151,545,059(+) TAATC(C/T)CAGCA intron-variant, upstream-variant-2KB
rs1000271732 -- 151,562,924(+) GATGA(C/G)CTTAC 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)

Relevant External Links for TUFT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUFT1

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

Disorders for TUFT1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TUFT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypocalcified amelogenesis imperfecta
  • amelogenesis imperfecta type 3
dental caries
  • dental caries extending into pulp
teeth hard tissue disease
x-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
  • x-linked enamel hypoplasia
- elite association - COSMIC cancer census association via MalaCards
Search TUFT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TUFT1

Genetic Association Database (GAD)
TUFT1
Human Genome Epidemiology (HuGE) Navigator
TUFT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUFT1
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 L.W. (Mamm. Genome 1994) 2 3 4 22 64
  2. Enamel formation genes are associated with high caries experience in Turkish children. (PMID: 18781068) Patir A. … Vieira A.R. (Caries Res. 2008) 3 22 46 64
  3. The human tuftelin gene: cloning and characterization. (PMID: 11733143) Mao Z. … Deutsch D. (Gene 2001) 3 4 22 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TUFT1 Gene

Sources for TUFT1 Gene

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