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TUFT1 tuftelin 1 [ Homo sapiens (human) ]

Gene ID: 7286, updated on 8-May-2016
Official Symbol
TUFT1provided by HGNC
Official Full Name
tuftelin 1provided by HGNC
Primary source
HGNC:HGNC:12422
See related
Ensembl:ENSG00000143367 HPRD:02516; MIM:600087; Vega:OTTHUMG00000012536
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]
Orthologs
Location:
1q21
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (151540300..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 with ZNF domain Neighboring gene RNA, Ro-associated Y4 pseudogene 25 Neighboring gene cingulin Neighboring gene microRNA 554 Neighboring gene ribosomal protein S10 pseudogene 6 Neighboring gene sorting nexin family member 27 Neighboring gene CUGBP, Elav-like family member 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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
 
odontogenesis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
 

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_001126337.1NP_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, OTTHUMP00000014512, ENST00000368848, OTTHUMT00000035023
    Conserved Domains (1) summary
    pfam12718
    Location:195325
    Tropomyosin_1; Tropomyosin like
  2. NM_001301317.1NP_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 (1) summary
    pfam12718
    Location:239369
    Tropomyosin_1; Tropomyosin like
  3. NM_020127.2NP_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, OTTHUMP00000014511, ENST00000368849, OTTHUMT00000035022
    Conserved Domains (1) summary
    pfam12718
    Location:220350
    Tropomyosin_1; Tropomyosin like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    151540300..151583583
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509961.1XP_011508263.1  

    UniProtKB/Swiss-Prot
    Q9NNX1
    Conserved Domains (1) summary
    pfam12718
    Location:161291
    Tropomyosin_1; Tropomyosin like

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    152908196..152951455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)