GLB1L_HUMAN
ID GLB1L_HUMAN Reviewed; 654 AA.
AC Q6UWU2; Q96DR0;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Beta-galactosidase-1-like protein;
DE EC=3.2.1.-;
DE Flags: Precursor;
GN Name=GLB1L; ORFNames=UNQ229/PRO262;
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 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 96-654 (ISOFORM 2).
RC TISSUE=Brain;
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).
CC -!- FUNCTION: Probable glycosyl hydrolase. {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6UWU2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UWU2-2; Sequence=VSP_030059;
CC -!- SIMILARITY: Belongs to the glycosyl hydrolase 35 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB70855.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AY358639; AAQ89002.1; -; mRNA.
DR EMBL; AK055098; BAB70855.1; ALT_INIT; mRNA.
DR CCDS; CCDS2437.1; -. [Q6UWU2-1]
DR CCDS; CCDS74657.1; -. [Q6UWU2-2]
DR RefSeq; NP_001273352.1; NM_001286423.1. [Q6UWU2-1]
DR RefSeq; NP_078782.3; NM_024506.4. [Q6UWU2-1]
DR RefSeq; XP_016860384.1; XM_017004895.1. [Q6UWU2-2]
DR AlphaFoldDB; Q6UWU2; -.
DR SMR; Q6UWU2; -.
DR BioGRID; 122661; 32.
DR IntAct; Q6UWU2; 4.
DR STRING; 9606.ENSP00000295759; -.
DR CAZy; GH35; Glycoside Hydrolase Family 35.
DR GlyGen; Q6UWU2; 3 sites.
DR iPTMnet; Q6UWU2; -.
DR PhosphoSitePlus; Q6UWU2; -.
DR BioMuta; GLB1L; -.
DR DMDM; 74749401; -.
DR EPD; Q6UWU2; -.
DR jPOST; Q6UWU2; -.
DR MassIVE; Q6UWU2; -.
DR MaxQB; Q6UWU2; -.
DR PaxDb; Q6UWU2; -.
DR PeptideAtlas; Q6UWU2; -.
DR PRIDE; Q6UWU2; -.
DR ProteomicsDB; 67523; -. [Q6UWU2-1]
DR ProteomicsDB; 67524; -. [Q6UWU2-2]
DR Antibodypedia; 34313; 65 antibodies from 14 providers.
DR DNASU; 79411; -.
DR Ensembl; ENST00000295759.12; ENSP00000295759.7; ENSG00000163521.16. [Q6UWU2-1]
DR Ensembl; ENST00000392089.6; ENSP00000375939.2; ENSG00000163521.16. [Q6UWU2-1]
DR Ensembl; ENST00000409640.5; ENSP00000386354.1; ENSG00000163521.16. [Q6UWU2-2]
DR GeneID; 79411; -.
DR KEGG; hsa:79411; -.
DR MANE-Select; ENST00000295759.12; ENSP00000295759.7; NM_001286423.2; NP_001273352.1.
DR UCSC; uc002vkm.5; human. [Q6UWU2-1]
DR CTD; 79411; -.
DR GeneCards; GLB1L; -.
DR HGNC; HGNC:28129; GLB1L.
DR HPA; ENSG00000163521; Tissue enhanced (testis).
DR neXtProt; NX_Q6UWU2; -.
DR OpenTargets; ENSG00000163521; -.
DR PharmGKB; PA134885559; -.
DR VEuPathDB; HostDB:ENSG00000163521; -.
DR eggNOG; KOG0496; Eukaryota.
DR GeneTree; ENSGT00950000182942; -.
DR HOGENOM; CLU_007853_7_2_1; -.
DR InParanoid; Q6UWU2; -.
DR OMA; GSYGACD; -.
DR OrthoDB; 179316at2759; -.
DR PhylomeDB; Q6UWU2; -.
DR TreeFam; TF314816; -.
DR PathwayCommons; Q6UWU2; -.
DR Reactome; R-HSA-1660662; Glycosphingolipid metabolism.
DR Reactome; R-HSA-2022857; Keratan sulfate degradation.
DR Reactome; R-HSA-2024096; HS-GAG degradation.
DR SignaLink; Q6UWU2; -.
DR BioGRID-ORCS; 79411; 13 hits in 1068 CRISPR screens.
DR GenomeRNAi; 79411; -.
DR Pharos; Q6UWU2; Tdark.
DR PRO; PR:Q6UWU2; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6UWU2; protein.
DR Bgee; ENSG00000163521; Expressed in left testis and 150 other tissues.
DR ExpressionAtlas; Q6UWU2; baseline and differential.
DR Genevisible; Q6UWU2; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
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 InterPro; IPR026283; B-gal_1-like.
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; PTHR23421; 1.
DR Pfam; PF01301; Glyco_hydro_35; 1.
DR PIRSF; PIRSF006336; B-gal; 1.
DR PRINTS; PR00742; GLHYDRLASE35.
DR SUPFAM; SSF49785; SSF49785; 1.
DR SUPFAM; SSF51445; SSF51445; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Glycosidase; Hydrolase;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..27
FT /evidence="ECO:0000255"
FT CHAIN 28..654
FT /note="Beta-galactosidase-1-like protein"
FT /id="PRO_0000313604"
FT ACT_SITE 186
FT /note="Proton donor"
FT /evidence="ECO:0000255"
FT ACT_SITE 264
FT /note="Nucleophile"
FT /evidence="ECO:0000255"
FT CARBOHYD 97
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 243
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 150..239
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_030059"
SQ SEQUENCE 654 AA; 74158 MW; 73BFEEDC768B5A07 CRC64;
MAPKKLSCLR SLLLPLSLTL LLPQADTRSF VVDRGHDRFL LDGAPFRYVS GSLHYFRVPR
VLWADRLLKM RWSGLNAIQF YVPWNYHEPQ PGVYNFNGSR DLIAFLNEAA LANLLVILRP
GPYICAEWEM GGLPSWLLRK PEIHLRTSDP DFLAAVDSWF KVLLPKIYPW LYHNGGNIIS
IQVENEYGSY RACDFSYMRH LAGLFRALLG EKILLFTTDG PEGLKCGSLR GLYTTVDFGP
ADNMTKIFTL LRKYEPHGPL VNSEYYTGWL DYWGQNHSTR SVSAVTKGLE NMLKLGASVN
MYMFHGGTNF GYWNGADKKG RFLPITTSYD YDAPISEAGD PTPKLFALRD VISKFQEVPL
GPLPPPSPKM MLGPVTLHLV GHLLAFLDLL CPRGPIHSIL PMTFEAVKQD HGFMLYRTYM
THTIFEPTPF WVPNNGVHDR AYVMVDGVFQ GVVERNMRDK LFLTGKLGSK LDILVENMGR
LSFGSNSSDF KGLLKPPILG QTILTQWMMF PLKIDNLVKW WFPLQLPKWP YPQAPSGPTF
YSKTFPILGS VGDTFLYLPG WTKGQVWING FNLGRYWTKQ GPQQTLYVPR FLLFPRGALN
KITLLELEDV PLQPQVQFLD KPILNSTSTL HRTHINSLSA DTLSASEPME LSGH
