ID F6W5W1_HORSE Unreviewed; 972 AA.
AC F6W5W1;
DT 27-JUL-2011, integrated into UniProtKB/TrEMBL.
DT 13-SEP-2023, sequence version 2.
DT 27-MAR-2024, entry version 74.
DE RecName: Full=Lysosomal alpha-glucosidase {ECO:0000256|ARBA:ARBA00019338};
DE EC=3.2.1.20 {ECO:0000256|ARBA:ARBA00012741};
DE AltName: Full=Acid maltase {ECO:0000256|ARBA:ARBA00041572};
GN Name=GAA {ECO:0000313|VGNC:VGNC:18184};
OS Equus caballus (Horse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Perissodactyla; Equidae; Equus.
OX NCBI_TaxID=9796 {ECO:0000313|Ensembl:ENSECAP00000013401.2, ECO:0000313|Proteomes:UP000002281};
RN [1] {ECO:0000313|Ensembl:ENSECAP00000013401.2, ECO:0000313|Proteomes:UP000002281}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Thoroughbred {ECO:0000313|Ensembl:ENSECAP00000013401.2,
RC ECO:0000313|Proteomes:UP000002281};
RX PubMed=19892987; DOI=10.1126/science.1178158;
RG Broad Institute Genome Sequencing Platform;
RG Broad Institute Whole Genome Assembly Team;
RA Wade C.M., Giulotto E., Sigurdsson S., Zoli M., Gnerre S., Imsland F.,
RA Lear T.L., Adelson D.L., Bailey E., Bellone R.R., Bloecker H., Distl O.,
RA Edgar R.C., Garber M., Leeb T., Mauceli E., MacLeod J.N., Penedo M.C.T.,
RA Raison J.M., Sharpe T., Vogel J., Andersson L., Antczak D.F., Biagi T.,
RA Binns M.M., Chowdhary B.P., Coleman S.J., Della Valle G., Fryc S.,
RA Guerin G., Hasegawa T., Hill E.W., Jurka J., Kiialainen A., Lindgren G.,
RA Liu J., Magnani E., Mickelson J.R., Murray J., Nergadze S.G., Onofrio R.,
RA Pedroni S., Piras M.F., Raudsepp T., Rocchi M., Roeed K.H., Ryder O.A.,
RA Searle S., Skow L., Swinburne J.E., Syvaenen A.C., Tozaki T., Valberg S.J.,
RA Vaudin M., White J.R., Zody M.C., Lander E.S., Lindblad-Toh K.;
RT "Genome sequence, comparative analysis, and population genetics of the
RT domestic horse.";
RL Science 326:865-867(2009).
RN [2] {ECO:0000313|Ensembl:ENSECAP00000013401.2}
RP IDENTIFICATION.
RC STRAIN=Thoroughbred {ECO:0000313|Ensembl:ENSECAP00000013401.2};
RG Ensembl;
RL Submitted (NOV-2023) to UniProtKB.
CC -!- SUBCELLULAR LOCATION: Lysosome membrane
CC {ECO:0000256|ARBA:ARBA00004656}. Membrane
CC {ECO:0000256|ARBA:ARBA00004370}.
CC -!- SIMILARITY: Belongs to the glycosyl hydrolase 31 family.
CC {ECO:0000256|ARBA:ARBA00007806, ECO:0000256|RuleBase:RU361185}.
CC -!- CAUTION: Lacks conserved residue(s) required for the propagation of
CC feature annotation. {ECO:0000256|PROSITE-ProRule:PRU00779}.
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DR AlphaFoldDB; F6W5W1; -.
DR STRING; 9796.ENSECAP00000013401; -.
DR PaxDb; 9796-ENSECAP00000013401; -.
DR Ensembl; ENSECAT00000016588.4; ENSECAP00000013401.2; ENSECAG00000015401.4.
DR CTD; 2548; -.
DR VGNC; VGNC:18184; GAA.
DR GeneTree; ENSGT00940000159355; -.
DR HOGENOM; CLU_000631_11_2_1; -.
DR InParanoid; F6W5W1; -.
DR OMA; PYVINHD; -.
DR OrthoDB; 5480935at2759; -.
DR TreeFam; TF314577; -.
DR Proteomes; UP000002281; Chromosome 11.
DR Bgee; ENSECAG00000015401; Expressed in chorionic villus and 23 other cell types or tissues.
DR GO; GO:0120282; C:autolysosome lumen; IEA:Ensembl.
DR GO; GO:0005765; C:lysosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0004558; F:alpha-1,4-glucosidase activity; IBA:GO_Central.
DR GO; GO:0030246; F:carbohydrate binding; IEA:InterPro.
DR GO; GO:0035904; P:aorta development; IEA:Ensembl.
DR GO; GO:0060048; P:cardiac muscle contraction; IEA:Ensembl.
DR GO; GO:0002086; P:diaphragm contraction; IEA:Ensembl.
DR GO; GO:0005980; P:glycogen catabolic process; IBA:GO_Central.
DR GO; GO:0061723; P:glycophagy; IEA:Ensembl.
DR GO; GO:0003007; P:heart morphogenesis; IEA:Ensembl.
DR GO; GO:0007626; P:locomotory behavior; IEA:Ensembl.
DR GO; GO:0007040; P:lysosome organization; IBA:GO_Central.
DR GO; GO:0046716; P:muscle cell cellular homeostasis; IEA:Ensembl.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IEA:Ensembl.
DR GO; GO:0050884; P:neuromuscular process controlling posture; IEA:Ensembl.
DR GO; GO:0002026; P:regulation of the force of heart contraction; IEA:Ensembl.
DR GO; GO:0009888; P:tissue development; IEA:Ensembl.
DR GO; GO:0043181; P:vacuolar sequestering; IEA:Ensembl.
DR CDD; cd06602; GH31_MGAM_SI_GAA; 1.
DR CDD; cd14752; GH31_N; 1.
DR CDD; cd00111; Trefoil; 1.
DR Gene3D; 3.20.20.80; Glycosidases; 1.
DR Gene3D; 2.60.40.1760; glycosyl hydrolase (family 31); 1.
DR Gene3D; 2.60.40.1180; Golgi alpha-mannosidase II; 2.
DR Gene3D; 4.10.110.10; Spasmolytic Protein, domain 1; 1.
DR InterPro; IPR011013; Gal_mutarotase_sf_dom.
DR InterPro; IPR030458; Glyco_hydro_31_AS.
DR InterPro; IPR048395; Glyco_hydro_31_C.
DR InterPro; IPR030459; Glyco_hydro_31_CS.
DR InterPro; IPR025887; Glyco_hydro_31_N_dom.
DR InterPro; IPR000322; Glyco_hydro_31_TIM.
DR InterPro; IPR013780; Glyco_hydro_b.
DR InterPro; IPR017853; Glycoside_hydrolase_SF.
DR InterPro; IPR017957; P_trefoil_CS.
DR InterPro; IPR000519; P_trefoil_dom.
DR InterPro; IPR044913; P_trefoil_dom_sf.
DR PANTHER; PTHR22762; ALPHA-GLUCOSIDASE; 1.
DR PANTHER; PTHR22762:SF92; LYSOSOMAL ALPHA-GLUCOSIDASE; 1.
DR Pfam; PF13802; Gal_mutarotas_2; 1.
DR Pfam; PF01055; Glyco_hydro_31_2nd; 1.
DR Pfam; PF21365; Glyco_hydro_31_3rd; 1.
DR Pfam; PF00088; Trefoil; 1.
DR SMART; SM00018; PD; 1.
DR SUPFAM; SSF51445; (Trans)glycosidases; 1.
DR SUPFAM; SSF74650; Galactose mutarotase-like; 1.
DR SUPFAM; SSF51011; Glycosyl hydrolase domain; 1.
DR SUPFAM; SSF57492; Trefoil; 1.
DR PROSITE; PS00129; GLYCOSYL_HYDROL_F31_1; 1.
DR PROSITE; PS00707; GLYCOSYL_HYDROL_F31_2; 1.
DR PROSITE; PS00025; P_TREFOIL_1; 1.
DR PROSITE; PS51448; P_TREFOIL_2; 1.
PE 1: Evidence at protein level;
KW Disulfide bond {ECO:0000256|ARBA:ARBA00023157};
KW Glycoprotein {ECO:0000256|ARBA:ARBA00023180};
KW Glycosidase {ECO:0000256|RuleBase:RU361185};
KW Hydrolase {ECO:0000256|ARBA:ARBA00022801, ECO:0000256|RuleBase:RU361185};
KW Lysosome {ECO:0000256|ARBA:ARBA00023228};
KW Membrane {ECO:0000256|ARBA:ARBA00023136};
KW Proteomics identification {ECO:0007829|PeptideAtlas:F6W5W1};
KW Reference proteome {ECO:0000313|Proteomes:UP000002281}.
FT DOMAIN 79..130
FT /note="P-type"
FT /evidence="ECO:0000259|PROSITE:PS51448"
FT REGION 54..88
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 972 AA; 107643 MW; 512D6C76AE5F208C CRC64;
MDGRRLPCSR PLGLCVLVCL ATAALLGHVL LHDFTMVPRE LHGFSQVPKE IYRAPQQGAS
GPGPQPAPGR RGSPRAAPAQ CDTPPDSRFD CAPDKAITQE QCEARGCCYV PARRQPPGSQ
MGQPWCFFPP SYPSYKLGNL TTTEMGYTAT LTRAAPTFVP KDILTLRLDV LVETESRLHF
TVYGPLCLTW LPTGGAPLLA LWIKDPANRR YEVPLETPRV RSRATSTLYS VEFSEEPFGV
VVRRKLNGRV LLNTTVAPLF FADQFLQLST SLPSRYVTGL AEHLGPLMLN TNWTKITLWN
RDIAPTPSVN LYGSHPFYLV LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY
VFLGPEPKSV VQQYLEVVGY PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV
QWNDLDYMDA RRDFTFNKDG FGDFPAMVQE LHQGGRRYMM IVDPAISSSG PPGSYRPYDE
GLRRGVFITN ETGQPLIGKV WPGSTAFPDF TNPEALDWWQ DMVAEFHAQV PFDGMWIDMN
EPSNFVKGSV DGCPDSDLEN PPYVPGVVGG TLRAATVCAS SQQFLSTHYD LHNLYGLTEA
IASHRALVKA RGVRPFVISR STFAGHGRYA GHWTGDVWSS WEQLSYSVPE ILLFNLLGVP
LVGADICGFL GNTSEELCVR WTQLGAFYPF MRNHNGLDSL PQEPYRFSET AQQAMRKAFA
LRYMLLPHLY TLFHGAHTRG QTVARPLFLE FPEDPRTWTV DRQLLWGEAL LITPVLEAGR
VEVTGYFPLG TWYDLQTVPV GALGGLPSPA PAPLMPAIHS EGQWVTLPAP LDTINLHLRA
GHIIPLQGPG LTTTESRKQP MALVVALTSS REAQGELFWD DGESLGVLER EAYTHIIFLA
RNNTIINELL HVTSEGASLQ LERVTVLGVA VAPQQVLSNG VPVSNFTYNP DTKTLDIPVS
LTMGEQFLIS WS
//
