ID GLBL3_HUMAN Reviewed; 653 AA.
AC Q8NCI6; A6NEM0; A6NN15; Q6P3S3; Q96FF8;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 3.
DT 27-MAR-2024, entry version 145.
DE RecName: Full=Beta-galactosidase-1-like protein 3;
DE EC=3.2.1.-;
GN Name=GLB1L3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT MET-474.
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND VARIANT PRO-163.
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8NCI6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NCI6-2; Sequence=VSP_024280;
CC Name=4;
CC IsoId=Q8NCI6-4; Sequence=VSP_024283, VSP_024284;
CC -!- SIMILARITY: Belongs to the glycosyl hydrolase 35 family. {ECO:0000305}.
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DR EMBL; AK074712; BAC11155.1; -; mRNA.
DR EMBL; AP000859; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC011001; AAH11001.2; -; mRNA.
DR CCDS; CCDS44780.1; -. [Q8NCI6-1]
DR RefSeq; NP_001073876.2; NM_001080407.2. [Q8NCI6-1]
DR AlphaFoldDB; Q8NCI6; -.
DR SMR; Q8NCI6; -.
DR BioGRID; 125216; 9.
DR IntAct; Q8NCI6; 3.
DR STRING; 9606.ENSP00000396615; -.
DR CAZy; GH35; Glycoside Hydrolase Family 35.
DR GlyGen; Q8NCI6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NCI6; -.
DR PhosphoSitePlus; Q8NCI6; -.
DR BioMuta; GLB1L3; -.
DR DMDM; 269849685; -.
DR EPD; Q8NCI6; -.
DR jPOST; Q8NCI6; -.
DR MassIVE; Q8NCI6; -.
DR MaxQB; Q8NCI6; -.
DR PaxDb; 9606-ENSP00000396615; -.
DR PeptideAtlas; Q8NCI6; -.
DR ProteomicsDB; 72897; -. [Q8NCI6-1]
DR ProteomicsDB; 72898; -. [Q8NCI6-2]
DR ProteomicsDB; 72899; -. [Q8NCI6-4]
DR Antibodypedia; 33186; 153 antibodies from 22 providers.
DR DNASU; 112937; -.
DR Ensembl; ENST00000389887.9; ENSP00000374537.5; ENSG00000166105.16. [Q8NCI6-4]
DR Ensembl; ENST00000431683.7; ENSP00000396615.2; ENSG00000166105.16. [Q8NCI6-1]
DR GeneID; 112937; -.
DR KEGG; hsa:112937; -.
DR MANE-Select; ENST00000431683.7; ENSP00000396615.2; NM_001080407.3; NP_001073876.2.
DR UCSC; uc009zdf.4; human. [Q8NCI6-1]
DR AGR; HGNC:25147; -.
DR CTD; 112937; -.
DR DisGeNET; 112937; -.
DR GeneCards; GLB1L3; -.
DR HGNC; HGNC:25147; GLB1L3.
DR HPA; ENSG00000166105; Tissue enhanced (brain, prostate, seminal vesicle).
DR neXtProt; NX_Q8NCI6; -.
DR OpenTargets; ENSG00000166105; -.
DR PharmGKB; PA145148764; -.
DR VEuPathDB; HostDB:ENSG00000166105; -.
DR eggNOG; KOG0496; Eukaryota.
DR GeneTree; ENSGT00950000182942; -.
DR HOGENOM; CLU_985336_0_0_1; -.
DR InParanoid; Q8NCI6; -.
DR OMA; FPITREP; -.
DR OrthoDB; 5489808at2759; -.
DR PhylomeDB; Q8NCI6; -.
DR TreeFam; TF354299; -.
DR PathwayCommons; Q8NCI6; -.
DR Reactome; R-HSA-2022857; Keratan sulfate degradation.
DR Reactome; R-HSA-2024096; HS-GAG degradation.
DR Reactome; R-HSA-9840310; Glycosphingolipid catabolism.
DR SignaLink; Q8NCI6; -.
DR BioGRID-ORCS; 112937; 11 hits in 1137 CRISPR screens.
DR ChiTaRS; GLB1L3; human.
DR GeneWiki; GLB1L3; -.
DR GenomeRNAi; 112937; -.
DR Pharos; Q8NCI6; Tdark.
DR PRO; PR:Q8NCI6; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8NCI6; Protein.
DR Bgee; ENSG00000166105; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 112 other cell types or tissues.
DR ExpressionAtlas; Q8NCI6; baseline and differential.
DR Genevisible; Q8NCI6; HS.
DR GO; GO:0005773; C:vacuole; IBA:GO_Central.
DR GO; GO:0004565; F:beta-galactosidase activity; IBA:GO_Central.
DR GO; GO:0005975; P:carbohydrate metabolic process; IEA:InterPro.
DR Gene3D; 2.60.120.260; Galactose-binding domain-like; 2.
DR Gene3D; 3.20.20.80; Glycosidases; 1.
DR InterPro; IPR026283; B-gal_1-like.
DR InterPro; IPR048912; BetaGal1-like_ABD1.
DR InterPro; IPR048913; BetaGal_gal-bd.
DR InterPro; IPR008979; Galactose-bd-like_sf.
DR InterPro; IPR031330; Gly_Hdrlase_35_cat.
DR InterPro; IPR001944; Glycoside_Hdrlase_35.
DR InterPro; IPR017853; Glycoside_hydrolase_SF.
DR PANTHER; PTHR23421; BETA-GALACTOSIDASE RELATED; 1.
DR PANTHER; PTHR23421:SF59; BETA-GALACTOSIDASE-1-LIKE PROTEIN 3; 1.
DR Pfam; PF21317; BetaGal_ABD_1; 1.
DR Pfam; PF21467; BetaGal_gal-bd; 1.
DR Pfam; PF01301; Glyco_hydro_35; 1.
DR PIRSF; PIRSF006336; B-gal; 1.
DR PRINTS; PR00742; GLHYDRLASE35.
DR SUPFAM; SSF51445; (Trans)glycosidases; 1.
DR SUPFAM; SSF49785; Galactose-binding domain-like; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycosidase; Hydrolase; Reference proteome.
FT CHAIN 1..653
FT /note="Beta-galactosidase-1-like protein 3"
FT /id="PRO_0000283028"
FT ACT_SITE 227
FT /note="Proton donor"
FT /evidence="ECO:0000250"
FT ACT_SITE 301
FT /note="Nucleophile"
FT /evidence="ECO:0000250"
FT VAR_SEQ 1..339
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024280"
FT VAR_SEQ 293..313
FT /note="RDKPLLIMEYWVGWFDRWGDK -> GASIDAGLLSDASQAATSSSL (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024283"
FT VAR_SEQ 314..653
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024284"
FT VARIANT 163
FT /note="R -> P (in dbSNP:rs472287)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031477"
FT VARIANT 474
FT /note="V -> M (in dbSNP:rs2509062)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_031478"
SQ SEQUENCE 653 AA; 74823 MW; 997972E36F2ECF16 CRC64;
MKSPPLLSPC LSWKRMAGIF FLPFISSGFA PRFKQEENFM LGRAHPSQPR FNWSHLTPLE
LKNRSVGLGT ESTGRGKPHF TLEGHKFLIF GGSIHYFRVP REYWRDRLLK LKACGFNTVT
TYVPWNLHEP ERGKFDFSGN LDLEAFVLMA AEIGLWVILR PGRYICSEMD LGGLPSWLLQ
DPRLLLRTTN KSFIEAVEKY FDHLIPRVIP LQYRQAGPVI AVQVENEYGS FNKDKTYMPY
LHKALLRRGI VELLLTSDGE KHVLSGHTKG VLAAINLQKL HQDTFNQLHK VQRDKPLLIM
EYWVGWFDRW GDKHHVKDAK EVEHAVSEFI KYEISFNVYM FHGGTNFGFM NGATYFGKHS
GIVTSYDYDA VLTEAGDYTE KYLKLQKLFQ SVSATPLPRV PKLPPKAVYP PVRPSLYLPL
WDALSYLNEP VRSRQPVNME NLPINNGSGQ SYGLVLYEKS ICSGGRLRAH AHDVAQVFLD
ETMIGILNEN NKDLHIPELR DCRYLRILVE NQGRVNFSWQ IQNEQKGITG SVSINNSSLE
GFTIYSLEMK MSFFERLRSA TWKPVPDSHQ GPAFYCGTLK AGPSPKDTFL SLLNWNYGFV
FINGRNLGRY WNIGPQKTLY LPGVWLHPED NEVILFEKMM SGSDIKSTDK PTL
//
