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] See more...

Aliases for TUFT1 Gene

Aliases for TUFT1 Gene

  • Tuftelin 1 2 3 5
  • Tuftelin 3 4
  • TUFT1 5

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 and Dental Caries. 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 Summary 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 , Rfam classification and piRNA Summary for TUFT1 Gene

Genomics for TUFT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TUFT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUFT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUFT1

Top Transcription factor binding sites by QIAGEN in the TUFT1 gene promoter:
  • AhR
  • AP-4
  • Arnt
  • c-Myb
  • COMP1
  • Lmo2
  • p53
  • RFX1
  • SREBP-1a
  • SREBP-1b

Genomic Locations for TUFT1 Gene

Genomic Locations for TUFT1 Gene
chr1:151,540,294-151,583,583
(GRCh38/hg38)
Size:
43,290 bases
Orientation:
Plus strand
chr1:151,512,781-151,556,059
(GRCh37/hg19)
Size:
43,279 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=Truncated N-terminus.; 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

Gene Families for TUFT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for TUFT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TUFT1 Gene

GenScript: Design optimal peptide antigens:
  • Tuftelin (TUFT1_HUMAN)

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

Function for TUFT1 Gene

Molecular function for TUFT1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the mineralization and structural organization of enamel.
GENATLAS Biochemistry:
tuftelin,acidic enamelin protein,that plays a major role 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 IEA,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:
  • Tuft1 Tuft1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUFT1

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
cytoskeleton 2
nucleus 2
plasma membrane 1
mitochondrion 1
endosome 1
cytosol 1
lysosome 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:0005622 intracellular IBA 21873635
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with TUFT1: view

Pathways & Interactions for TUFT1 Gene

PathCards logo

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:0035556 intracellular signal transduction IBA 21873635
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) Drugs for TUFT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TUFT1: view

Transcripts for TUFT1 Gene

mRNA/cDNA for TUFT1 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUFT1

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

Expression for TUFT1 Gene

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



Protein tissue co-expression partners for TUFT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Skin(2.4)
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
Chimpanzee
(Pan troglodytes)
Mammalia TUFT1 30 31
  • 99.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TUFT1 30 31
  • 90.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tuft1 30 17 31
  • 89.23 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TUFT1 30
  • 87.78 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TUFT1 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC101749610 30
  • 62.31 (n)
TUFT1 31
  • 56 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TUFT1 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tuft1 30
  • 50.62 (n)
Zebrafish
(Danio rerio)
Actinopterygii tuft1a 30 31
  • 50.09 (n)
OneToMany
tuft1b 31
  • 31 (a)
OneToMany
Species where no ortholog for TUFT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TUFT1: view image

Paralogs for TUFT1 Gene

Paralogs for TUFT1 Gene

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

  • TUFT1_HUMAN
  • A6PVU8_HUMAN
  • F5H607_HUMAN
genes like me logo Genes that share paralogs with TUFT1: view

Variants for TUFT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUFT1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
778237 Benign: not provided 151,561,845(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
rs16833395 - p.Lys296Arg
rs3828054 - p.Gln18Arg

Additional dbSNP identifiers (rs#s) for TUFT1 Gene

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

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

(10) MalaCards diseases for TUFT1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta
  • ai
dental caries
  • dental caries extending into pulp
dentine erosion
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2
  • amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1
palmoplantar keratoderma, nonepidermolytic, focal or diffuse
  • ppknefd
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  2. Enamel formation genes are associated with high caries experience in Turkish children. (PMID: 18781068) Patir A … Vieira AR (Caries research 2008) 3 23 41
  3. The human tuftelin gene: cloning and characterization. (PMID: 11733143) Mao Z … Deutsch D (Gene 2001) 3 4 23
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for TUFT1 Gene

  • Signalway Proteins for TUFT1

Sources for TUFT1 Gene