TREH (trehalase)

Gene

• Entrez ID: 11181
• Gene name: Trehalase
• Gene symbol: TREH
• Synonyms (NCBI Gene): TRE, TREA, TREHD
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. Two transcript varia

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs527655595	GTGGCAGTAAATCTCACTGCAGAGAC>-	Conflicting-interpretations-of-pathogenicity	Splice acceptor variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017846	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004555	Function	Alpha,alpha-trehalase activity	IBA
GO:0004555	Function	Alpha,alpha-trehalase activity	IDA	8773341, 9427547
GO:0004555	Function	Alpha,alpha-trehalase activity	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8773341
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005991	Process	Trehalose metabolic process	IEA
GO:0005991	Process	Trehalose metabolic process	NAS	8773341
GO:0005993	Process	Trehalose catabolic process	IBA
GO:0005993	Process	Trehalose catabolic process	IDA	9427547
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098552	Component	Side of membrane	IEA

Other IDs

• MIM: 275360
• HGNC: 12266
• e!Ensembl: ENSG00000118094

Protein

• UniProt ID: O43280
• Protein name: Trehalase (EC 3.2.1.28) (Alpha,alpha-trehalase) (Alpha,alpha-trehalose glucohydrolase)
• Protein function: Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01204	Trehalase	46 → 551	Trehalase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in kidney, liver and small intestine. Also more weakly expressed in pancreas. {ECO:0000269|PubMed:9427547}.
• Sequence:

  MPGRTWELCLLLLLGLGLGSQEALPPPCESEIYCHGELLNQVQMAKLYQDDKQFVDMPLS
  IAPEQVLQTFTELSRDHNHSIPREQLQAFVHEHFQAKGQELQPWTPADWKDSPQFLQKIS
  DAKLRAWAGQLHQLWKKLGKKMKPEVLSHPERFSLIYSEHPFIVPGGRFVEFYYWDSYWV
  MEGLLLSEMAETVKGMLQNFLDLVKTYGHVPNGGRVYYLQRSQPPLLTLMMDCYLTHTND
  TAFLQENIETLALELDFWTKNRTVSVSLEGKNYLLNRYYVPYGGPRPESYSKDVELADTL
  PEGDREALWAELKAGAESGWDFSSRWLIGGPNPNSLSGIRTSKLVPVDLNAFLCQAEELM
  SNFYSRLGNDSQATKYRILRSQRLAALNTVLWDEQTGAWFDYDLEKKKKNREFYPSNLTP
  LWAGCFSDPGVADKALKYLEDNRILTYQYGIPTSLQKTGQQWDFPNAWAPLQDLVIRGLA
  KAPLRRAQEVAFQLAQNWIRTNFDVYSQKSAMYEKYDVSNGGQPGGGGEYEVQEGFGWTN
  GVVLMLLDRYGDRLTSGAKLAFLEPHCLAATLLPSLLLSLLPW

• Sequence length: 583

Pathways

KEGG:

Starch and sucrose metabolism
Metabolic pathways

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
alpha, alpha-Trehalase deficiency	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREH-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Cartilage Diseases	Associate	27701424	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Associate	24625756	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	23468175	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	26156397	★☆☆☆☆ Found in Text Mining only
Trehalase Deficiency	Associate	36880131	★☆☆☆☆ Found in Text Mining only