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TUFT1 tuftelin 1 [ Homo sapiens (human) ]

Gene ID: 7286, updated on 12-Oct-2019

Summary

Official Symbol
TUFT1provided by HGNC
Official Full Name
tuftelin 1provided by HGNC
Primary source
HGNC:HGNC:12422
See related
Ensembl:ENSG00000143367 MIM:600087
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
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

Genomic context

See TUFT1 in Genome Data Viewer
Location:
1q21.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (151540294..151583583)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151512781..151556059)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pogo transposable element derived with ZNF domain Neighboring gene RNY4 pseudogene 25 Neighboring gene cingulin Neighboring gene microRNA 554 Neighboring gene ribosomal protein S10 pseudogene 6 Neighboring gene RNA, U6 small nuclear 1062, pseudogene Neighboring gene sorting nexin 27 Neighboring gene CUGBP Elav-like family member 3

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of tooth enamel NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
bone mineralization NAS
Non-traceable Author Statement
more info
PubMed 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
odontogenesis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001126337.2NP_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/Swiss-Prot
    Q9NNX1
    Related
    ENSP00000357841.2, ENST00000368848.6
    Conserved Domains (3) summary
    pfam06364
    Location:134214
    DUF1068; Protein of unknown function (DUF1068)
    cd16269
    Location:297307
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:192324
    GBP_C; Guanylate-binding protein, C-terminal domain
  2. NM_001301317.2NP_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/Swiss-Prot
    Q9NNX1
    UniProtKB/TrEMBL
    B7Z4Y1
    Conserved Domains (3) summary
    pfam06364
    Location:178258
    DUF1068; Protein of unknown function (DUF1068)
    cd16269
    Location:341351
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:236368
    GBP_C; Guanylate-binding protein, C-terminal domain
  3. NM_020127.3NP_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
    Q9NNX1
    Related
    ENSP00000357842.3, ENST00000368849.8
    Conserved Domains (1) summary
    cl25732
    Location:164354
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    151540294..151583583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509961.2XP_011508263.1  tuftelin isoform X3

    UniProtKB/Swiss-Prot
    Q9NNX1
    Conserved Domains (3) summary
    pfam06364
    Location:100180
    DUF1068; Protein of unknown function (DUF1068)
    cd16269
    Location:263273
    GBP_C; coiled coil [structural motif]
    cl20817
    Location:158290
    GBP_C; Guanylate-binding protein, C-terminal domain
  2. XM_017002224.1XP_016857713.1  tuftelin isoform X2

  3. XM_017002223.2XP_016857712.1  tuftelin isoform X1

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