TUFT1 - tuftelin 1 Gene

Homo sapiens

Gene ID: 7286 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15268	TUFT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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