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Protein

Protein-glucosylgalactosylhydroxylysine glucosidase

Gene

PGGHG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the hydrolysis of glucose from the disaccharide unit linked to hydroxylysine residues of collagen and collagen-like proteins.1 Publication

Catalytic activityi

Protein alpha-D-glucosyl-(1->2)-beta-D-galactosyl-L-hydroxylysine + H2O = D-glucose + protein beta-D-galactosyl-L-hydroxylysine.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei430Proton donor1 Publication1

GO - Molecular functioni

  • protein-glucosylgalactosylhydroxylysine glucosidase activity Source: UniProtKB

GO - Biological processi

  • carbohydrate metabolic process Source: UniProtKB

Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000142102-MONOMER

Protein family/group databases

CAZyiGH65 Glycoside Hydrolase Family 65

Names & Taxonomyi

Protein namesi
Recommended name:
Protein-glucosylgalactosylhydroxylysine glucosidase1 Publication (EC:3.2.1.1071 Publication)
Alternative name(s):
Acid trehalase-like protein 1Imported
Gene namesi
Name:PGGHG1 PublicationImported
Synonyms:ATHL1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000142102.15
HGNCiHGNC:26210 PGGHG
neXtProtiNX_Q32M88

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi301D → E or N: Abolishes catalytic activity. 1 Publication1
Mutagenesisi429D → E: Abolishes catalytic activity. 1 Publication1
Mutagenesisi429D → N: Significantly impairs catalytic activity. 1 Publication1
Mutagenesisi430E → D or Q: Abolishes catalytic activity. 1 Publication1
Mutagenesisi574E → D or Q: Abolishes catalytic activity. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000142102
PharmGKBiPA142672576

Polymorphism and mutation databases

BioMutaiATHL1
DMDMi182627595

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003290041 – 737Protein-glucosylgalactosylhydroxylysine glucosidaseAdd BLAST737

Proteomic databases

EPDiQ32M88
MaxQBiQ32M88
PaxDbiQ32M88
PeptideAtlasiQ32M88
PRIDEiQ32M88
ProteomicsDBi61596
61597 [Q32M88-2]

PTM databases

iPTMnetiQ32M88
PhosphoSitePlusiQ32M88

Expressioni

Gene expression databases

BgeeiENSG00000142102
CleanExiHS_ATHL1
ExpressionAtlasiQ32M88 baseline and differential
GenevisibleiQ32M88 HS

Organism-specific databases

HPAiHPA039383
HPA058829

Interactioni

Protein-protein interaction databases

BioGridi123150, 1 interactor
STRINGi9606.ENSP00000387185

Structurei

3D structure databases

ProteinModelPortaliQ32M88
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni300 – 301Substrate binding1 Publication2
Regioni498 – 499Substrate bindingBy similarity2

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi696 – 699Poly-Ser4

Sequence similaritiesi

Belongs to the glycosyl hydrolase 65 family.Curated

Phylogenomic databases

eggNOGiKOG4125 Eukaryota
COG1554 LUCA
GeneTreeiENSGT00390000006297
HOGENOMiHOG000007761
HOVERGENiHBG057497
InParanoidiQ32M88
KOiK22078
PhylomeDBiQ32M88
TreeFamiTF300109

Family and domain databases

Gene3Di1.50.10.10, 1 hit
InterProiView protein in InterPro
IPR008928 6-hairpin_glycosidase_sf
IPR012341 6hp_glycosidase-like_sf
IPR005195 Glyco_hydro_65_M
PfamiView protein in Pfam
PF03632 Glyco_hydro_65m, 1 hit
SUPFAMiSSF48208 SSF48208, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q32M88-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEDAGEDPTT FAAHSLPSDP RLLATVTNAY LGTRVFHDTL HVSGVYNGAG
60 70 80 90 100
GDTHRAMLPS PLNVRLEAPA GMGEQLTETF ALDTNTGSFL HTLEGPRFRA
110 120 130 140 150
SQCIYAHRTL PHVLAFRVSI ARLAPGSGPI TLLLRSAFSP ESPDLDLHQG
160 170 180 190 200
PDFQGARYLY GHTLTPEQPG GPQQEVHMLW TPAPPDLTLG EGEEARTWDF
210 220 230 240 250
LTAVGGSQAE AQACLTEALQ LQARGALYTA HAQAWAQLWV ECGLDVVGPL
260 270 280 290 300
QLRQALRGSL YYLLSALPQP KAPGYICHGL SPGGLSNGSR EECYWGHVFW
310 320 330 340 350
DQDLWMFPSI LMFHPEAARA ILEYRIRTLD GALENAQNLG YQGAKFAWES
360 370 380 390 400
ADSGLEVCPE DIYGVQEVHV NGAVVLAFEL YYHTTQDLQL FREAGGWDVV
410 420 430 440 450
RAVAEFWCSR VEWSPREEKY HLRGVMSPDE YHSGVNNSVY TNVLVQNSLR
460 470 480 490 500
FAAALAQDLG LPIPSQWLAV ADKIKVPFDV EQNFHPEFDG YEPGEVVKQA
510 520 530 540 550
DVVLLGYPVP FSLSPDVRRK NLEIYEAVTS PQGPAMTWSM FAVGWMELKD
560 570 580 590 600
AVRARGLLDR SFANMAEPFK VWTENADGSG AVNFLTGMGG FLQAVVFGCT
610 620 630 640 650
GFRVTRAGVT FDPVCLSGIS RVSVSGIFYQ GNKLNFSFSE DSVTVEVTAR
660 670 680 690 700
AGPWAPHLEA ELWPSQSRLS LLPGHKVSFP RSAGRIQMSP PKLPGSSSSE
710 720 730
FPGRTFSDVR DPLQSPLWVT LGSSSPTESL TVDPASE
Note: No experimental confirmation available.
Length:737
Mass (Da):80,655
Last modified:April 8, 2008 - v2
Checksum:i6EAEEE2FF90F3CD2
GO
Isoform 2 (identifier: Q32M88-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     303-354: DLWMFPSILM...KFAWESADSG → VSTVHPAPAT...WKVCRSLVEE
     355-737: Missing.

Show »
Length:354
Mass (Da):38,273
Checksum:iD621DE13DCBADD55
GO

Sequence cautioni

The sequence AAI09258 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI09259 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15431 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB84981 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti487 – 500EFDGY…VVKQA → KFQLRVPWEDFFRC in BAB15431 (PubMed:14702039).CuratedAdd BLAST14

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_032895303 – 354DLWMF…SADSG → VSTVHPAPATQQATHGGPRS LPSLGPGLWLGKHRDCGKRE EAWKVCRSLVEE in isoform 2. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_032896355 – 737Missing in isoform 2. 1 PublicationAdd BLAST383

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC136475 Genomic DNA No translation available.
AK074155 mRNA Translation: BAB84981.1 Different initiation.
AK026288 mRNA Translation: BAB15431.1 Different initiation.
BC109257 mRNA Translation: AAI09258.1 Different initiation.
BC109258 mRNA Translation: AAI09259.1 Different initiation.
AL832932 mRNA Translation: CAH56316.1
CCDSiCCDS31322.2 [Q32M88-1]
RefSeqiNP_079368.3, NM_025092.4 [Q32M88-1]
XP_011518685.1, XM_011520383.2 [Q32M88-1]
XP_016873844.1, XM_017018355.1 [Q32M88-1]
UniGeneiHs.353181

Genome annotation databases

EnsembliENST00000409548; ENSP00000387185; ENSG00000142102 [Q32M88-1]
GeneIDi80162
KEGGihsa:80162
UCSCiuc010qvu.3 human [Q32M88-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPGGHG_HUMAN
AccessioniPrimary (citable) accession number: Q32M88
Secondary accession number(s): Q658X8, Q8TEG9, Q9H635
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: July 18, 2018
This is version 102 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. SIMILARITY comments
    Index of protein domains and families

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