TREH trehalase [Homo sapiens (human)] - Gene

Summary

Official Symbol: TREHprovided by HGNC
Official Full Name: trehalaseprovided by HGNC
Primary source: HGNC:HGNC:12266
See related: Ensembl:ENSG00000118094 MIM:275360; AllianceGenome:HGNC:12266
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRE; TREA; TREHD
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 variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Expression: Biased expression in duodenum (RPKM 44.4), small intestine (RPKM 43.7) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (118657316..118679650, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (118676537..118698868, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (118528026..118550359, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

these results indicate that trehalose has anti-apoptotic effects through the suppression of oxidative stress-induced mitochondrial injury and ER stress which is dependent on the promotion of autophagic flux and the induction of selective autophagy
Title: Trehalose ameliorates oxidative stress-mediated mitochondrial dysfunction and ER stress via selective autophagy stimulation and autophagic flux restoration in osteoarthritis development.
In conclusion, we identified four novel loci (TGFA, PIK3R1, FGFR3 and TREH) and confirmed two loci known to be associated with cartilage thickness.The identified associations were not caused by rare exonic variants. This is the first report linking TGFA to human Osteoarthritis, which may serve as a new target for future therapies.
Title: Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.
results suggest a significant association between the RETL1, TREH, and PHLDB1 genes and GBM development in the Han Chinese population
Title: Association between RTEL1, PHLDB1, and TREH Polymorphisms and Glioblastoma Risk: A Case-Control Study.
variants in TREH control trehalase activity, and although one of these variants is also reproducibly associated with T2D, it is likely that the effect of the SNP on risk of T2D occurs by a mechanism different than affecting trehalase activity.
Title: Identification of genetic variation that determines human trehalase activity and its association with type 2 diabetes.
we found three protective alleles for glioma patients, including the allele ''T'' of rs17748 in the TREH gene by recessive model (OR, 0.48; 95% CI, 0.23-1.01; P = 0.05) analysis
Title: Polymorphisms of TREH, IL4R and CCDC26 genes associated with risk of glioma.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
These results suggest that TREH acts as a stress-response protein in the kidney rather than involved in utilization of exogenous trehalose.
Title: Human trehalase is a stress responsive protein in Saccharomyces cerevisiae.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
alpha, alpha-Trehalase deficiency MedGen: C0268187 OMIM: 612119 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants influencing human serum metabolome among African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH121711 (e-PCR)
- UniSTS:134453

RH11874 (e-PCR)
- UniSTS:36450

D11S797 (e-PCR)
- UniSTS:58722

D11S2274E (e-PCR)
- UniSTS:56506

D11S3550 (e-PCR)
- UniSTS:152789

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha,alpha-trehalase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha,alpha-trehalase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in trehalose catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in trehalose catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in trehalose metabolic process	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: trehalase

Names: alpha,alpha-trehalose glucohydrolase; trehalase (brush-border membrane glycoprotein)

NP_001287994.1

EC 3.2.1.28

NP_009111.2

EC 3.2.1.28

NCBI Reference Sequences (RefSeq)

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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.

Genomic

NG_023321.2 RefSeqGene

Range

5000..27334

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001301065.2 → NP_001287994.1 trehalase isoform 2 precursor

See identical proteins and their annotated locations for NP_001287994.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK223140, AP000941, BC109206

Consensus CDS

CCDS73401.1

UniProtKB/Swiss-Prot

O43280

Related

ENSP00000381020.2, ENST00000397925.2

Conserved Domains (1) summary

pfam01204
Location:46 → 519

Trehalase; Trehalase
NM_007180.3 → NP_009111.2 trehalase isoform 1 precursor

See identical proteins and their annotated locations for NP_009111.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK223140, AK223143, AP000941

Consensus CDS

CCDS73402.1

UniProtKB/Swiss-Prot

O43280, Q32MB9, Q53FY8

Related

ENSP00000264029.5, ENST00000264029.9

Conserved Domains (2) summary

COG1626
Location:22 → 552

TreA; Neutral trehalase [Carbohydrate transport and metabolism]

pfam01204
Location:46 → 550

Trehalase; Trehalase