TUFT1 - tuftelin 1 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7286

About TUFT1

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:151,540,309-151,583,583 (from NCBI)

This gene has 6 transcripts (splice variants), 253 orthologues and 3 paralogues. Broad expression in skin (RPKM 29.7), esophagus (RPKM 10.9) and 19 other tissues.

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]

TUFT1 Products (3)

mRNA	Protein	Name
NM_001126337.2	NP_001119809.1	tuftelin isoform 2
NM_001301317.2	NP_001288246.1	tuftelin isoform 3
NM_020127.3	NP_064512.1	tuftelin isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA
enables structural constituent of skin epidermis	IMP IMP: Inferred from mutant phenotype	36689522	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TUFT1 Protein Structure

GCOM2

0
100
200
300
390 a.a.

Protein Preferred Names	Protein Names
tuftelin

TUFT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TUFT1	Q9NNX1	KAT5	Homo sapiens	Q92993	Validated Y2H	25416956
Intra	TUFT1	Q9NNX1	KAT5	Homo sapiens	Q92993	Y2H Array	25416956
Intra	TUFT1	Q9NNX1	ZYX	Homo sapiens	Q15942	Y2H Array	31515488
Intra	TUFT1	Q9NNX1	ZYX	Homo sapiens	Q15942	Y2H Array	29892012
Intra	TUFT1	Q9NNX1	ZYX	Homo sapiens	Q15942	Anti Tag CoIP	33961781
Intra	TUFT1	Q9NNX1	TRIM27	Homo sapiens	P14373	Validated Y2H	25416956
Intra	TUFT1	Q9NNX1	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	25416956
Intra	TUFT1	Q9NNX1	CEP76	Homo sapiens	Q8TAP6	Y2H Array	25416956
Intra	TUFT1	Q9NNX1	CEP76	Homo sapiens	Q8TAP6	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Dental Caries	Dental Caries Extending Into Pulp Dental Caries Of Smooth Surface Dental Caries Pit And Fissure Smooth Surface Dental Caries Dental Decay Carious Teeth Dental Cavity Saprodontia Teeth Decayed Tooth Caries Tooth Decay
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 2 Enamel Hypoplasia, X-Linked Aih3 Amelogenesis Imperfecta 3, Hypoplastic Type, Formerly Aih3, Formerly Amelogenesis Imperfecta, Type Ie, X-Linked 2 Amelogenesis Imperfecta Type Ie X-Linked 2 Amelogenesis Imperfecta 3 Hypoplastic Type X-Linked Enamel Hypoplasia Amelogenesis Imperfecta 3, Hypoplastic Type Amelogenesis Imperfecta-3, Hypoplastic Type Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1
Amelogenesis Imperfecta, Type Iv	AI4 Aihht Amelogenesis Imperfecta Type 4 Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, With Taurodontism Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type With Taurodontism Amelogenesis Imperfecta 4 Ait Amelogenesis Imperfecta 2 Hypocalcification Type Amelogenesis Imperfecta Hypomineralization Type Amelogenesis Imperfecta Type Iv Amelogenesis Imperfecta With Taurodontism
Dentine Erosion
Dental Fluorosis	Mottled Teeth Intrinsic Enamel Discolouration Of Fluorosis Mottling Of Enamel Fluorosis, Dental Dental Fluorosis, Acquired
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	PPKNEFD Focal Or Diffuse Nonepidermolytic Palmoplantar Keratoderma Autosomal Dominant Focal Non-Epidermolytic Palmoplantar Keratoderma With Plantar Blistering Palmoplantar Keratoderma, Non-Epidermolytic, Focal Or Diffuse Nonepidermolytic Focal Or Diffuse Palmoplantar Keratoderma Keratoderma, Palmoplantar, Nonepidermolytic, Focal Or Diffuse
Enamel Caries	Primary Dental Caries Dental Caries Limited To Enamel Simple Dental Cavity
Tooth Erosion	Generalized Erosion Localized Erosion Generalized Erosions Erosion, Localized
Teeth Hard Tissue Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15268	TUFT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22889	Tuft1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29403	Tuft1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TUFT1	MGD	MGI:109572
Felis catus	TUFT1	VGNC	VGNC:66709
Rattus norvegicus	TUFT1	RGD	RGD:1310373
Bos taurus	TUFT1	VGNC	VGNC:36518
Macaca mulatta	TUFT1	VGNC	VGNC:78675
Others	TUFT1	NCBI