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    TUFT1 tuftelin 1 [ Homo sapiens (human) ]

    Gene ID: 7286, updated on 14-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
    mouse all
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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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    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
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 I band IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of RNA polymerase II, core complex 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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