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Aliases for TUFT1 Gene

Aliases for TUFT1 Gene

  • Tuftelin 1 2 3 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 Dental Caries and 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

Enhancers for TUFT1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around TUFT1 on UCSC Golden Path with GeneCards custom track

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

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 & 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: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

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
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 & Interactions for TUFT1 Gene

SuperPathways for TUFT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TUFT1 Gene

None

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:

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 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



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.
genes like me logo Genes that share expression patterns with TUFT1: view

Protein tissue co-expression partners for TUFT1 Gene

Primer Products

Orthologs for TUFT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TUFT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TUFT1 35
  • 90.43 (n)
  • 89.23 (a)
TUFT1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUFT1 35
  • 87.78 (n)
  • 84.36 (a)
mouse
(Mus musculus)
Mammalia Tuft1 35
  • 89.23 (n)
  • 88.97 (a)
Tuft1 16
Tuft1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUFT1 35
  • 99.06 (n)
  • 98.21 (a)
TUFT1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUFT1 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101749610 35
  • 62.31 (n)
  • 54.25 (a)
TUFT1 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TUFT1 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tuft1 35
  • 50.62 (n)
  • 40.96 (a)
zebrafish
(Danio rerio)
Actinopterygii tuft1a 35
  • 50.09 (n)
  • 35.03 (a)
tuft1a 36
  • 32 (a)
OneToMany
tuft1b 36
  • 31 (a)
OneToMany
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

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
rs16833395 - 151,578,789(+) GCTCA(A/G)GAGCC reference, missense
rs3828054 - 151,540,419(-) CCGCC(C/T)GGTCC reference, missense, utr-variant-5-prime
rs12749 -- 151,583,265(-) CAAGG(C/T)TGTAG utr-variant-3-prime
rs868138 -- 151,559,896(-) GAATC(A/G)CTTGA intron-variant
rs1418822 -- 151,575,659(+) TGGAA(A/G)TTATG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv522757 CNV Loss 19592680

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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
dental caries
  • dental caries extending into pulp
hypocalcified amelogenesis imperfecta
  • amelogenesis imperfecta type 3
dentine erosion
teeth hard tissue disease
- 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 23 67
  2. Enamel formation genes are associated with high caries experience in Turkish children. (PMID: 18781068) Patir A. … Vieira A.R. (Caries Res. 2008) 3 23
  3. The human tuftelin gene and the expression of tuftelin in mineralizing and nonmineralizing tissues. (PMID: 12489194) Deutsch D. … Mao Z. (Connect. Tissue Res. 2002) 3 23
  4. The human tuftelin gene: cloning and characterization. (PMID: 11733143) Mao Z. … Deutsch D. (Gene 2001) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for TUFT1 Gene

Sources for TUFT1 Gene

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