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TUFT1 tuftelin 1 [ Homo sapiens (human) ]

Gene ID: 7286, updated on 2-Nov-2024

Summary

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Official Symbol
TUFT1provided by HGNC
Official Full Name
tuftelin 1provided by HGNC
Primary source
HGNC:HGNC:12422
See related
Ensembl:ENSG00000143367 MIM:600087; AllianceGenome:HGNC:12422
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WHSF
Summary
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]
Expression
Broad expression in skin (RPKM 29.7), esophagus (RPKM 10.9) and 19 other tissues See more
Orthologs
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Genomic context

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See TUFT1 in Genome Data Viewer
Location:
1q21.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151540309..151583583)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150663979..150707247)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151512785..151556059)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pogo transposable element derived with ZNF domain Neighboring gene Sharpr-MPRA regulatory region 7521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1322 Neighboring gene RNY4 pseudogene 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151476367-151476867 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151482940-151483516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151483517-151484092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151485246-151485822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151485823-151486398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151495500-151496035 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:151495990-151497189 Neighboring gene small nucleolar RNA SNORA44 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151511530-151512046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151512562-151513077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151513078-151513592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151519404-151519922 Neighboring gene cingulin Neighboring gene Sharpr-MPRA regulatory region 12940 Neighboring gene microRNA 554 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:151546941-151548140 Neighboring gene ribosomal protein S10 pseudogene 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151566738-151567238 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151567239-151567739 Neighboring gene CRISPRi-validated cis-regulatory element chr1.8572 Neighboring gene uncharacterized LOC124904420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151591098-151591598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151591599-151592099 Neighboring gene RNA, U6 small nuclear 1062, pseudogene Neighboring gene sorting nexin 27

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by fluorescence in situ hybridization. Deutsch D, et al. Mamm Genome, 1994 Jul. PMID 7919663
  2. Molecular cloning and characterization of the bovine and human tuftelin genes. Bashir MM, et al. Connect Tissue Res, 1998. PMID 11062985
  3. microRNA-128-3p inhibits proliferation and accelerates apoptosis of gastric cancer cells via inhibition of TUFT1. Du X, et al. World J Surg Oncol, 2023 Feb 17. PMID 36797791, Free PMC Article
  4. The human tuftelin gene and the expression of tuftelin in mineralizing and nonmineralizing tissues. Deutsch D, et al. Connect Tissue Res, 2002. PMID 12489194
  5. TUFT1 regulates metastasis of pancreatic cancer through HIF1-Snail pathway induced epithelial-mesenchymal transition. Zhou B, et al. Cancer Lett, 2016 Nov 1. PMID 27566398

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MiR-4319 targets tuftelin 1 to reduce malignancy of cervical cancer cells.
    Title: MiR-4319 targets tuftelin 1 to reduce malignancy of cervical cancer cells.
  2. [Overexpression of tuftelin and KLF-5 and its clinicopathological features in hepatitis B virus-related hepatocellular carcinoma].
    Title: [Overexpression of tuftelin and KLF-5 and its clinicopathological features in hepatitis B virus-related hepatocellular carcinoma].
  3. Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
    Title: Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
  4. m6A modified BACE1-AS contributes to liver metastasis and stemness-like properties in colorectal cancer through TUFT1 dependent activation of Wnt signaling.
    Title: m6A modified BACE1-AS contributes to liver metastasis and stemness-like properties in colorectal cancer through TUFT1 dependent activation of Wnt signaling.
  5. microRNA-128-3p inhibits proliferation and accelerates apoptosis of gastric cancer cells via inhibition of TUFT1.
    Title: microRNA-128-3p inhibits proliferation and accelerates apoptosis of gastric cancer cells via inhibition of TUFT1.
  6. SUMOylation of TUFT1 is essential for gastric cancer progression through AKT/mTOR signaling pathway activation.
    Title: SUMOylation of TUFT1 is essential for gastric cancer progression through AKT/mTOR signaling pathway activation.
  7. Hsa_circ_0074269-mediated Upregulation of TUFT1 Through miR-485-5p Increases Cisplatin Resistance in Cervical Cancer.
    Title: Hsa_circ_0074269-mediated Upregulation of TUFT1 Through miR-485-5p Increases Cisplatin Resistance in Cervical Cancer.
  8. Tuftelin 1 Facilitates Hepatocellular Carcinoma Progression through Regulation of Lipogenesis and Focal Adhesion Maturation.
    Title: Tuftelin 1 Facilitates Hepatocellular Carcinoma Progression through Regulation of Lipogenesis and Focal Adhesion Maturation.
  9. Tuftelin 1 (TUFT1) Promotes the Proliferation and Migration of Renal Cell Carcinoma via PI3K/AKT Signaling Pathway.
    Title: Tuftelin 1 (TUFT1) Promotes the Proliferation and Migration of Renal Cell Carcinoma via PI3K/AKT Signaling Pathway.
  10. TUFT1 Facilitates Metastasis, Stemness, and Vincristine Resistance in Colorectal Cancer via Activation of PI3K/AKT Pathway.
    Title: TUFT1 Facilitates Metastasis, Stemness, and Vincristine Resistance in Colorectal Cancer via Activation of PI3K/AKT Pathway.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Woolly hair-skin fragility syndrome
MedGen: C1843292 OMIM: 620415 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of skin epidermis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables structural constituent of tooth enamel NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in bone mineralization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in odontogenesis NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
located_in extracellular region NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
tuftelin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001126337.2 → NP_001119809.1  tuftelin isoform 2

    See identical proteins and their annotated locations for NP_001119809.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon resulting in a shorter protein isoform (2).
    Source sequence(s)
    AF254260, AK026989, BC002933
    Consensus CDS
    CCDS44223.1
    UniProtKB/TrEMBL
    Q53FX0
    Related
    ENSP00000357841.2, ENST00000368848.6
    Conserved Domains (3) summary
    pfam06364
    Location:134 → 214
    DUF1068; Protein of unknown function (DUF1068)
    cd16269
    Location:297 → 307
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:192 → 324
    GBP_C; Guanylate-binding protein, C-terminal domain

  2. NM_001301317.2 → NP_001288246.1  tuftelin isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes an additional exon compared to variant 1. The transcript may be subject to nonsense mediated decay or may be translated from ribosomal leaky scanning. The inferred protein (isoform 3) has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK026989, AK298066, AL136917, AL365436
    UniProtKB/TrEMBL
    B7Z4Y1
    Conserved Domains (3) summary
    pfam06364
    Location:178 → 258
    DUF1068; Protein of unknown function (DUF1068)
    cd16269
    Location:341 → 351
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:236 → 368
    GBP_C; Guanylate-binding protein, C-terminal domain

  3. NM_020127.3 → NP_064512.1  tuftelin isoform 1

    See identical proteins and their annotated locations for NP_064512.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer protein isoform.
    Source sequence(s)
    AF254260, AK026989
    Consensus CDS
    CCDS1000.1
    UniProtKB/Swiss-Prot
    B2RD57, D3DV21, D3DV22, Q5T384, Q5T385, Q9BU28, Q9H5L1, Q9NNX1
    UniProtKB/TrEMBL
    Q53FX0
    Related
    ENSP00000357842.3, ENST00000368849.8
    Conserved Domains (1) summary
    cl25732
    Location:164 → 354
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    151540309..151583583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002223.3 → XP_016857712.1  tuftelin isoform X1

    UniProtKB/TrEMBL
    Q53FX0

  2. XM_011509961.3 → XP_011508263.1  tuftelin isoform X3

    UniProtKB/TrEMBL
    B7Z688
    Conserved Domains (3) summary
    pfam06364
    Location:100 → 180
    DUF1068; Protein of unknown function (DUF1068)
    cd16269
    Location:263 → 273
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:158 → 290
    GBP_C; Guanylate-binding protein, C-terminal domain

  3. XM_017002224.2 → XP_016857713.1  tuftelin isoform X2

    UniProtKB/TrEMBL
    B7Z688

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    150663979..150707247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338587.1 → XP_054194562.1  tuftelin isoform X1

  2. XM_054338589.1 → XP_054194564.1  tuftelin isoform X3

  3. XM_054338588.1 → XP_054194563.1  tuftelin isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NNX1.1 GenPept UniProtKB/Swiss-Prot:Q9NNX1

Gene LinkOut

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