ID G3V5E8_HUMAN Unreviewed; 211 AA. AC G3V5E8; DT 16-NOV-2011, integrated into UniProtKB/TrEMBL. DT 16-NOV-2011, sequence version 1. DT 16-JAN-2019, entry version 41. DE SubName: Full=Galactocerebrosidase {ECO:0000313|Ensembl:ENSP00000452314}; GN Name=GALC {ECO:0000313|Ensembl:ENSP00000452314}; 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:ENSP00000452314, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000452314, 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:ENSP00000452314} RP IDENTIFICATION. RG Ensembl; RL Submitted (SEP-2011) 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; G3V5E8; -. DR SMR; G3V5E8; -. DR jPOST; G3V5E8; -. DR MaxQB; G3V5E8; -. DR PeptideAtlas; G3V5E8; -. DR PRIDE; G3V5E8; -. DR Ensembl; ENST00000557316; ENSP00000452314; ENSG00000054983. DR UCSC; uc059eai.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; G3V5E8; baseline and differential. DR GO; GO:0004336; F:galactosylceramidase activity; IEA:InterPro. DR GO; GO:0006683; P:galactosylceramide catabolic process; IEA:InterPro. DR InterPro; IPR001286; Glyco_hydro_59. DR InterPro; IPR017853; Glycoside_hydrolase_SF. DR PANTHER; PTHR15172; PTHR15172; 1. DR Pfam; PF02057; Glyco_hydro_59; 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|MaxQB:G3V5E8, KW ECO:0000213|PeptideAtlas:G3V5E8}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}. FT SIGNAL 1 42 {ECO:0000256|SAM:SignalP}. FT CHAIN 43 211 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003457335. SQ SEQUENCE 211 AA; 23551 MW; A7E3166C3584E623 CRC64; MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG LGREFDGIGA VSGGGATSRL LVNYPEPYRS QILDYLFKPN FGASLHILKV EIGGDGQTTD GTEPSHMHYA LDENYFRGYE WWLMKEAKKR NPNITLIGLP WSFPGWLGKG FDWPYVNLQL TAYYVVTWIV GAKRYHDLDI DYIGIWNERS YNANYIKVFG E //