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UniProtKB - O43280 (TREA_HUMAN)
Protein
Trehalase
Gene
TREH
Organism
Homo sapiens (Human)
Status
Functioni
Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose.
2 PublicationsCatalytic activityi
- EC:3.2.1.282 Publications
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 168 | SubstrateBy similarity | 1 | |
Binding sitei | 212 | SubstrateBy similarity | 1 | |
Binding sitei | 319 | Substrate; via carbonyl oxygenBy similarity | 1 | |
Active sitei | 321 | Proton donor/acceptorBy similarity | 1 | |
Active sitei | 514 | Proton donor/acceptorBy similarity | 1 | |
Binding sitei | 529 | SubstrateBy similarity | 1 |
GO - Molecular functioni
- alpha,alpha-trehalase activity Source: UniProtKB
GO - Biological processi
- animal organ morphogenesis Source: Ensembl
- trehalose catabolic process Source: UniProtKB
- trehalose metabolic process Source: UniProtKB
Keywordsi
Molecular function | Glycosidase, Hydrolase |
Enzyme and pathway databases
BRENDAi | 3.2.1.28, 2681 |
PathwayCommonsi | O43280 |
Reactomei | R-HSA-189085, Digestion of dietary carbohydrate |
SignaLinki | O43280 |
Protein family/group databases
CAZyi | GH37, Glycoside Hydrolase Family 37 |
Names & Taxonomyi
Protein namesi | Recommended name: Trehalase1 Publication (EC:3.2.1.282 Publications)Alternative name(s): Alpha,alpha-trehalase Alpha,alpha-trehalose glucohydrolase |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12266, TREH |
MIMi | 275360, gene |
neXtProti | NX_O43280 |
VEuPathDBi | HostDB:ENSG00000118094 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; GPI-anchor By similarity
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- anchored component of plasma membrane Source: UniProtKB
Other locations
- anchored component of membrane Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Trehalase deficiency (TREHD)1 Publication
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionAn autosomal recessive condition characterized by the inability to digest trehalose, a disaccharide found in mushrooms, products containing baker's yeast, and dried food. Individuals with trehalase deficiency suffer from abdominal pain, increased rectal flatulence, and diarrhea due to osmotic water flow into the colon.
Related information in OMIMOrganism-specific databases
DisGeNETi | 11181 |
MalaCardsi | TREH |
MIMi | 612119, phenotype |
OpenTargetsi | ENSG00000118094 |
Orphaneti | 103909, Trehalase deficiency |
PharmGKBi | PA36946 |
Miscellaneous databases
Pharosi | O43280, Tchem |
Chemistry databases
ChEMBLi | CHEMBL3087 |
Genetic variation databases
BioMutai | TREH |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 23 | Sequence analysisAdd BLAST | 23 | |
ChainiPRO_0000012051 | 24 – 556 | TrehalaseAdd BLAST | 533 | |
PropeptideiPRO_0000012052 | 557 – 583 | Removed in mature formSequence analysisAdd BLAST | 27 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 78 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation | 1 | |
Glycosylationi | 239 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation | 1 | |
Glycosylationi | 261 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation | 1 | |
Glycosylationi | 369 | N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation | 1 | |
Lipidationi | 556 | GPI-anchor amidated serineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, GPI-anchor, LipoproteinProteomic databases
MassIVEi | O43280 |
PaxDbi | O43280 |
PeptideAtlasi | O43280 |
PRIDEi | O43280 |
ProteomicsDBi | 48848 [O43280-1] 48849 [O43280-2] |
PTM databases
GlyGeni | O43280, 4 sites |
iPTMneti | O43280 |
PhosphoSitePlusi | O43280 |
Expressioni
Tissue specificityi
Expressed in kidney, liver and small intestine. Also more weakly expressed in pancreas.1 Publication
Gene expression databases
Bgeei | ENSG00000118094, Expressed in duodenum and 109 other tissues |
ExpressionAtlasi | O43280, baseline and differential |
Genevisiblei | O43280, HS |
Organism-specific databases
HPAi | ENSG00000118094, Tissue enriched (intestine) |
Interactioni
Subunit structurei
Homodimer; disulfide-linked.
By similarityProtein-protein interaction databases
BioGRIDi | 116351, 1 interactor |
IntActi | O43280, 1 interactor |
STRINGi | 9606.ENSP00000264029 |
Chemistry databases
BindingDBi | O43280 |
Miscellaneous databases
RNActi | O43280, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 175 – 176 | Substrate bindingBy similarity | 2 | |
Regioni | 221 – 223 | Substrate bindingBy similarity | 3 | |
Regioni | 286 – 288 | Substrate bindingBy similarity | 3 |
Sequence similaritiesi
Belongs to the glycosyl hydrolase 37 family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG0602, Eukaryota |
GeneTreei | ENSGT00390000006949 |
HOGENOMi | CLU_006451_4_3_1 |
InParanoidi | O43280 |
OMAi | KVIDIWP |
OrthoDBi | 417479at2759 |
PhylomeDBi | O43280 |
TreeFami | TF314239 |
Family and domain databases
Gene3Di | 1.50.10.10, 1 hit |
InterProi | View protein in InterPro IPR008928, 6-hairpin_glycosidase_sf IPR012341, 6hp_glycosidase-like_sf IPR001661, Glyco_hydro_37 IPR018232, Glyco_hydro_37_CS |
PANTHERi | PTHR23403, PTHR23403, 1 hit |
Pfami | View protein in Pfam PF01204, Trehalase, 1 hit |
PRINTSi | PR00744, GLHYDRLASE37 |
SUPFAMi | SSF48208, SSF48208, 1 hit |
PROSITEi | View protein in PROSITE PS00927, TREHALASE_1, 1 hit PS00928, TREHALASE_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: O43280-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPGRTWELCL LLLLGLGLGS QEALPPPCES EIYCHGELLN QVQMAKLYQD
60 70 80 90 100
DKQFVDMPLS IAPEQVLQTF TELSRDHNHS IPREQLQAFV HEHFQAKGQE
110 120 130 140 150
LQPWTPADWK DSPQFLQKIS DAKLRAWAGQ LHQLWKKLGK KMKPEVLSHP
160 170 180 190 200
ERFSLIYSEH PFIVPGGRFV EFYYWDSYWV MEGLLLSEMA ETVKGMLQNF
210 220 230 240 250
LDLVKTYGHV PNGGRVYYLQ RSQPPLLTLM MDCYLTHTND TAFLQENIET
260 270 280 290 300
LALELDFWTK NRTVSVSLEG KNYLLNRYYV PYGGPRPESY SKDVELADTL
310 320 330 340 350
PEGDREALWA ELKAGAESGW DFSSRWLIGG PNPNSLSGIR TSKLVPVDLN
360 370 380 390 400
AFLCQAEELM SNFYSRLGND SQATKYRILR SQRLAALNTV LWDEQTGAWF
410 420 430 440 450
DYDLEKKKKN REFYPSNLTP LWAGCFSDPG VADKALKYLE DNRILTYQYG
460 470 480 490 500
IPTSLQKTGQ QWDFPNAWAP LQDLVIRGLA KAPLRRAQEV AFQLAQNWIR
510 520 530 540 550
TNFDVYSQKS AMYEKYDVSN GGQPGGGGEY EVQEGFGWTN GVVLMLLDRY
560 570 580
GDRLTSGAKL AFLEPHCLAA TLLPSLLLSL LPW
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A087WTJ4 | A0A087WTJ4_HUMAN | Trehalase | TREH | 37 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 539 – 540 | TN → DE in BAA24381 (PubMed:9427547).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049205 | 389 | T → A. Corresponds to variant dbSNP:rs2276065Ensembl. | 1 | |
Natural variantiVAR_049206 | 449 | Y → H. Corresponds to variant dbSNP:rs11827611EnsemblClinVar. | 1 | |
Natural variantiVAR_049207 | 486 | R → W. Corresponds to variant dbSNP:rs2276064Ensembl. | 1 | |
Natural variantiVAR_049208 | 558 | A → P. Corresponds to variant dbSNP:rs6589671Ensembl. | 1 | |
Natural variantiVAR_061191 | 561 | A → P. Corresponds to variant dbSNP:rs6589670Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_035440 | 175 – 206 | WDSYW…DLVKT → C in isoform 2. 1 PublicationAdd BLAST | 32 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB000824 mRNA Translation: BAA24381.1 AK223140 mRNA Translation: BAD96860.1 AK223143 mRNA Translation: BAD96863.1 CH471065 Genomic DNA Translation: EAW67409.1 BC109206 mRNA Translation: AAI09207.1 |
CCDSi | CCDS73401.1 [O43280-2] CCDS73402.1 [O43280-1] |
PIRi | JC6504 |
RefSeqi | NP_001287994.1, NM_001301065.1 [O43280-2] NP_009111.2, NM_007180.2 [O43280-1] |
Genome annotation databases
Ensembli | ENST00000264029; ENSP00000264029; ENSG00000118094 ENST00000397925; ENSP00000381020; ENSG00000118094 [O43280-2] |
GeneIDi | 11181 |
KEGGi | hsa:11181 |
MANE-Selecti | ENST00000264029.9; ENSP00000264029.5; NM_007180.3; NP_009111.2 |
UCSCi | uc031ygn.2, human [O43280-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia Trehalase entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB000824 mRNA Translation: BAA24381.1 AK223140 mRNA Translation: BAD96860.1 AK223143 mRNA Translation: BAD96863.1 CH471065 Genomic DNA Translation: EAW67409.1 BC109206 mRNA Translation: AAI09207.1 |
CCDSi | CCDS73401.1 [O43280-2] CCDS73402.1 [O43280-1] |
PIRi | JC6504 |
RefSeqi | NP_001287994.1, NM_001301065.1 [O43280-2] NP_009111.2, NM_007180.2 [O43280-1] |
3D structure databases
SMRi | O43280 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 116351, 1 interactor |
IntActi | O43280, 1 interactor |
STRINGi | 9606.ENSP00000264029 |
Chemistry databases
BindingDBi | O43280 |
ChEMBLi | CHEMBL3087 |
Protein family/group databases
CAZyi | GH37, Glycoside Hydrolase Family 37 |
PTM databases
GlyGeni | O43280, 4 sites |
iPTMneti | O43280 |
PhosphoSitePlusi | O43280 |
Genetic variation databases
BioMutai | TREH |
Proteomic databases
MassIVEi | O43280 |
PaxDbi | O43280 |
PeptideAtlasi | O43280 |
PRIDEi | O43280 |
ProteomicsDBi | 48848 [O43280-1] 48849 [O43280-2] |
Protocols and materials databases
Antibodypediai | 48758, 123 antibodies from 20 providers |
DNASUi | 11181 |
Genome annotation databases
Ensembli | ENST00000264029; ENSP00000264029; ENSG00000118094 ENST00000397925; ENSP00000381020; ENSG00000118094 [O43280-2] |
GeneIDi | 11181 |
KEGGi | hsa:11181 |
MANE-Selecti | ENST00000264029.9; ENSP00000264029.5; NM_007180.3; NP_009111.2 |
UCSCi | uc031ygn.2, human [O43280-1] |
Organism-specific databases
CTDi | 11181 |
DisGeNETi | 11181 |
GeneCardsi | TREH |
HGNCi | HGNC:12266, TREH |
HPAi | ENSG00000118094, Tissue enriched (intestine) |
MalaCardsi | TREH |
MIMi | 275360, gene 612119, phenotype |
neXtProti | NX_O43280 |
OpenTargetsi | ENSG00000118094 |
Orphaneti | 103909, Trehalase deficiency |
PharmGKBi | PA36946 |
VEuPathDBi | HostDB:ENSG00000118094 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0602, Eukaryota |
GeneTreei | ENSGT00390000006949 |
HOGENOMi | CLU_006451_4_3_1 |
InParanoidi | O43280 |
OMAi | KVIDIWP |
OrthoDBi | 417479at2759 |
PhylomeDBi | O43280 |
TreeFami | TF314239 |
Enzyme and pathway databases
BRENDAi | 3.2.1.28, 2681 |
PathwayCommonsi | O43280 |
Reactomei | R-HSA-189085, Digestion of dietary carbohydrate |
SignaLinki | O43280 |
Miscellaneous databases
BioGRID-ORCSi | 11181, 5 hits in 280 CRISPR screens |
GenomeRNAii | 11181 |
Pharosi | O43280, Tchem |
PROi | PR:O43280 |
RNActi | O43280, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000118094, Expressed in duodenum and 109 other tissues |
ExpressionAtlasi | O43280, baseline and differential |
Genevisiblei | O43280, HS |
Family and domain databases
Gene3Di | 1.50.10.10, 1 hit |
InterProi | View protein in InterPro IPR008928, 6-hairpin_glycosidase_sf IPR012341, 6hp_glycosidase-like_sf IPR001661, Glyco_hydro_37 IPR018232, Glyco_hydro_37_CS |
PANTHERi | PTHR23403, PTHR23403, 1 hit |
Pfami | View protein in Pfam PF01204, Trehalase, 1 hit |
PRINTSi | PR00744, GLHYDRLASE37 |
SUPFAMi | SSF48208, SSF48208, 1 hit |
PROSITEi | View protein in PROSITE PS00927, TREHALASE_1, 1 hit PS00928, TREHALASE_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TREA_HUMAN | |
Accessioni | O43280Primary (citable) accession number: O43280 Secondary accession number(s): Q32MB9, Q53FY8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | September 23, 2008 | |
Last modified: | February 23, 2022 | |
This is version 171 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Glycosyl hydrolases
Classification of glycosyl hydrolase families and list of entries - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families