ID A0A087WX10_HUMAN Unreviewed; 404 AA. AC A0A087WX10; DT 29-OCT-2014, integrated into UniProtKB/TrEMBL. DT 29-OCT-2014, sequence version 1. DT 13-FEB-2019, entry version 23. DE SubName: Full=Galactocerebrosidase {ECO:0000313|Ensembl:ENSP00000480649}; DE Flags: Fragment; GN Name=GALC {ECO:0000313|Ensembl:ENSP00000480649}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000480649, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000480649, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=12508121; DOI=10.1038/nature01348; RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., RA Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., RA Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., RA Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., RA Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., RA Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., RA Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., RA Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., RA Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., RA Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., RA Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., RA Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., RA Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., RA Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., RA Quetier F., Waterston R., Hood L., Weissenbach J.; RT "The DNA sequence and analysis of human chromosome 14."; RL Nature 421:601-607(2003). RN [2] {ECO:0000313|Ensembl:ENSP00000480649} RP IDENTIFICATION. RG Ensembl; RL Submitted (SEP-2014) to UniProtKB. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AL136501; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL157955; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR ProteinModelPortal; A0A087WX10; -. DR jPOST; A0A087WX10; -. DR PeptideAtlas; A0A087WX10; -. DR Ensembl; ENST00000622264; ENSP00000480649; ENSG00000054983. DR UCSC; uc059eal.1; human. DR EuPathDB; HostDB:ENSG00000054983.16; -. DR HGNC; HGNC:4115; GALC. DR OpenTargets; ENSG00000054983; -. DR eggNOG; ENOG410IITE; Eukaryota. DR eggNOG; ENOG410XTIS; LUCA. DR GeneTree; ENSGT00390000003303; -. DR ChiTaRS; GALC; human. DR Proteomes; UP000005640; Chromosome 14. DR Bgee; ENSG00000054983; Expressed in 238 organ(s), highest expression level in adrenal tissue. DR ExpressionAtlas; A0A087WX10; baseline and differential. DR GO; GO:0004336; F:galactosylceramidase activity; IEA:InterPro. DR GO; GO:0006683; P:galactosylceramide catabolic process; IEA:InterPro. DR Gene3D; 3.20.20.70; -; 1. DR InterPro; IPR013785; Aldolase_TIM. DR InterPro; IPR001286; Glyco_hydro_59. DR InterPro; IPR035394; Glyco_hydro_59_dom. DR InterPro; IPR017853; Glycoside_hydrolase_SF. DR PANTHER; PTHR15172; PTHR15172; 1. DR Pfam; PF02057; Glyco_hydro_59; 1. DR Pfam; PF17387; Glyco_hydro_59M; 1. DR PRINTS; PR00850; GLHYDRLASE59. DR SUPFAM; SSF51445; SSF51445; 1. PE 1: Evidence at protein level; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Proteomics identification {ECO:0000213|EPD:A0A087WX10, KW ECO:0000213|MaxQB:A0A087WX10, ECO:0000213|PeptideAtlas:A0A087WX10}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}. FT SIGNAL 1 39 {ECO:0000256|SAM:SignalP}. FT CHAIN 40 404 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5001832016. FT DOMAIN 354 385 Glyco_hydro_59M. FT {ECO:0000259|Pfam:PF17387}. FT ACT_SITE 195 195 Proton donor/acceptor. FT {ECO:0000256|PIRSR:PIRSR601286-50}. FT ACT_SITE 271 271 Nucleophile. FT {ECO:0000256|PIRSR:PIRSR601286-50}. FT NON_TER 1 1 {ECO:0000313|Ensembl:ENSP00000480649}. SQ SEQUENCE 404 AA; 45328 MW; AF684E3798ECB210 CRC64; XLLSASWQRR AKAMTAAAGS AGRAAVPLLL CALLAPGGAY VLDDSDGLGR EFDGIGAVSG GGATSRLLVN YPEPYRSQIL DYLFKPNFGA SLHILKVEIG GDGQTTDGTE PSHMHYALDE NYFRGYEWWL MKEAKKRNPN ITLIGLPWSF PGWLGKGFDW PYVNLQLTAY YVVTWIVGAK RYHDLDIDYI GIWNERSYNA NYIKILRKML NYQGLQRVKI IASDNLWESI SASMLLDAEL FKVVDVIGAH YPGTHSAKDA KLTGKKLWSS EDFSTLNSDM GAGCWGRILN QNYINGYMTS TIAWNLVASY YEQLPYGRCG LMTAQEPWSG HYVVESPVWV SAHTTQFTQP GWYYLKTVGH LEKGGSYVAL TDGLGNLTII IETMVNFCCC YWINSLLYYW KNKI //