Homo sapiens (human): 284004 Help Entry 284004            CDS       T01001                                  Symbol HEXD, HEXDC Name (RefSeq) hexosaminidase D   KO K14459   hexosaminidase [EC:3.2.1.52] Organism hsa  Homo sapiens (human) Pathway hsa00511   Other glycan degradation hsa00513   Various types of N-glycan biosynthesis hsa01100   Metabolic pathways Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09107 Glycan biosynthesis and metabolism    00513 Various types of N-glycan biosynthesis     284004 (HEXD)    00511 Other glycan degradation     284004 (HEXD) Enzymes [BR:hsa01000]  3. Hydrolases   3.2  Glycosylases    3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds     3.2.1.52  beta-N-acetylhexosaminidase      284004 (HEXD) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Glyco_hydro_20 Motif Other DBs NCBI-GeneID:  284004 NCBI-ProteinID:  NP_001317471 OMIM:  616864 HGNC:  26307 Ensembl:  ENSG00000169660 Pharos:  Q8WVB3(Tbio) UniProt:  Q8WVB3 LinkDB All DBs Position 17:82418347..82442645 Genome browser AA seq 486 aa AA seqDB search MSGSTPFQMRLVHLDLKGAPPKVSYLSEIFPLFRALGANGLLIEYEDMFPYEGPLRLLRA KYAYSPSEIKEILHLAGLNELEVIPLVQTFGHMEFVLKHTAFAHLREVGSFPCTLNPHEA ESLALVGAMIDQVLELHPGAQRLHIGCDEVYYLGEGEASRRWLQQEQNSTGKLCLSHMRA VASGVKARRPSVTPLVWDDMLRDLPEDQLAASGVPQLVEPVLWDYTADLDVHGKVLLMQK YRRCGFPQLWAASAFKGATGPSQAVPPVEHHLRNHVQWLQVAGSGPTDSLQGIILTGWQR YDHYSVLCELLPAGVPSLAACLQLLLRGGFDEDVKAKVENLLGISSLEKTDPVREGAGSF PGSNILALVTQVSLHLRSSVDALLEGNRYVTGWFSPYHRQRKLIHPVMVQHIQPAALSLL AQWSTLVQELEAALQLAFYPDAVEEWLEENVHPSLQRLQALLQDLSEVSAPPLPPTSPGR DVAQDP NT seq 1461 nt NT seq  +upstreamnt  +downstreamnt atgtcaggttccactccatttcagatgagattagttcatttagaccttaaaggagctcca ccaaaggtctcgtacctctcagagatttttcctctgttccgtgcgctaggtgcaaacggc ctcctcattgagtatgaagacatgtttccctacgagggccctctgaggctgctgagggcc aagtacgcctacagcccctctgaaatcaaagagatcttgcatctggctggactcaatgag ctggaggtgattcccttggtgcagacatttggacacatggagtttgtgctgaagcacacg gccttcgcccacctgcgggaggtgggctccttcccctgcaccctgaacccccacgaggca gagtccctggcgctggtgggcgccatgattgaccaggtcctggagctacacccaggcgcc cagcggctgcacatcgggtgtgatgaggtctattacctcggagagggggaggcctcgcgc cggtggctacagcaagagcagaacagcacggggaagttgtgcctgtcacacatgcgggcg gtggccagcggcgtgaaggcccggcgccccagcgtgacacccctggtgtgggacgacatg ctccgagacctgcctgaggaccagctcgcagcgtccggggtgccgcagctggtggagccg gtgctctgggactacacggccgacctggatgtgcacggcaaggtcctcctcatgcagaag taccggcggtgcggctttccgcagctgtgggcagccagtgccttcaagggtgccacgggg cccagccaggccgtgccccctgttgagcaccacctcaggaaccacgtgcagtggctgcag gtggcgggcagcgggcccacggactcactgcagggcatcatcctgaccggctggcagagg tacgaccactactctgtgctgtgcgagctgctgcccgcaggagtcccgtccctggccgcc tgcctgcagttgcttctacgcggaggatttgatgaagatgttaaagcgaaagtggagaac cttctcgggatttccagcctggaaaaaacggaccctgttagggagggggccggctccttc cctggcagcaacatccttgcccttgtcacacaagtcagcctccatctgcgcagctctgtg gatgcgctgctggagggcaacaggtatgtcactggctggttcagcccctaccaccgccag cggaagctcatccacccggtcatggttcagcacatccagcccgcagcgctcagcctcctg gcacagtggagcaccctcgtgcaggagctggaggctgccctgcagctggctttctacccg gatgccgtggaggagtggctggaggaaaacgtgcaccccagcctgcagcggctgcaagct ctgctgcaggacctcagcgaggtgtctgcccccccgctgccacccaccagccctggcagg gacgttgctcaggacccctga

Homo sapiens (human): 3073 Help Entry 3073              CDS       T01001                                  Symbol HEXA, TSD Name (RefSeq) hexosaminidase subunit alpha   KO K12373   hexosaminidase [EC:3.2.1.52] Organism hsa  Homo sapiens (human) Pathway hsa00511   Other glycan degradation hsa00513   Various types of N-glycan biosynthesis hsa00520   Amino sugar and nucleotide sugar metabolism hsa00531   Glycosaminoglycan degradation hsa00600   Sphingolipid metabolism hsa00603   Glycosphingolipid biosynthesis - globo and isoglobo series hsa00604   Glycosphingolipid biosynthesis - ganglio series hsa01100   Metabolic pathways hsa04142   Lysosome Module hsa_M00079   Keratan sulfate degradation Network nt06012  Glycosaminoglycan degradation   Element N00623   Keratan sulfate degradation Disease H00124   GM2 gangliosidoses H00426   Gangliosidosis H02016   Tay-Sachs disease Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09101 Carbohydrate metabolism    00520 Amino sugar and nucleotide sugar metabolism     3073 (HEXA)   09103 Lipid metabolism    00600 Sphingolipid metabolism     3073 (HEXA)   09107 Glycan biosynthesis and metabolism    00513 Various types of N-glycan biosynthesis     3073 (HEXA)    00531 Glycosaminoglycan degradation     3073 (HEXA)    00603 Glycosphingolipid biosynthesis - globo and isoglobo series     3073 (HEXA)    00604 Glycosphingolipid biosynthesis - ganglio series     3073 (HEXA)    00511 Other glycan degradation     3073 (HEXA)  09140 Cellular Processes   09141 Transport and catabolism    04142 Lysosome     3073 (HEXA)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03110 Chaperones and folding catalysts [BR:hsa03110]     3073 (HEXA) Enzymes [BR:hsa01000]  3. Hydrolases   3.2  Glycosylases    3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds     3.2.1.52  beta-N-acetylhexosaminidase      3073 (HEXA) Chaperones and folding catalysts [BR:hsa03110]  Intramolecular chaperones   Others    3073 (HEXA) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Glyco_hydro_20 Glycohydro_20b2 Glyco_hydro_20b Motif Other DBs NCBI-GeneID:  3073 NCBI-ProteinID:  NP_000511 OMIM:  606869 HGNC:  4878 Ensembl:  ENSG00000213614 Pharos:  P06865(Tchem) UniProt:  P06865 A0A0S2Z3W3 Structure PDB LinkDB All DBs Position 15:complement(72340924..72376014) Genome browser AA seq 529 aa AA seqDB search MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSV LDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTI NDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHY LPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVK EVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEF MSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLL DIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPW YLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAV AERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT NT seq 1590 nt NT seq  +upstreamnt  +downstreamnt atgacaagctccaggctttggttttcgctgctgctggcggcagcgttcgcaggacgggcg acggccctctggccctggcctcagaacttccaaacctccgaccagcgctacgtcctttac ccgaacaactttcaattccagtacgatgtcagctcggccgcgcagcccggctgctcagtc ctcgacgaggccttccagcgctatcgtgacctgcttttcggttccgggtcttggccccgt ccttacctcacagggaaacggcatacactggagaagaatgtgttggttgtctctgtagtc acacctggatgtaaccagcttcctactttggagtcagtggagaattataccctgaccata aatgatgaccagtgtttactcctctctgagactgtctggggagctctccgaggtctggag acttttagccagcttgtttggaaatctgctgagggcacattctttatcaacaagactgag attgaggactttccccgctttcctcaccggggcttgctgttggatacatctcgccattac ctgccactctctagcatcctggacactctggatgtcatggcgtacaataaattgaacgtg ttccactggcatctggtagatgatccttccttcccatatgagagcttcacttttccagag ctcatgagaaaggggtcctacaaccctgtcacccacatctacacagcacaggatgtgaag gaggtcattgaatacgcacggctccggggtatccgtgtgcttgcagagtttgacactcct ggccacactttgtcctggggaccaggtatccctggattactgactccttgctactctggg tctgagccctctggcacctttggaccagtgaatcccagtctcaataatacctatgagttc atgagcacattcttcttagaagtcagctctgtcttcccagatttttatcttcatcttgga ggagatgaggttgatttcacctgctggaagtccaacccagagatccaggactttatgagg aagaaaggcttcggtgaggacttcaagcagctggagtccttctacatccagacgctgctg gacatcgtctcttcttatggcaagggctatgtggtgtggcaggaggtgtttgataataaa gtaaagattcagccagacacaatcatacaggtgtggcgagaggatattccagtgaactat atgaaggagctggaactggtcaccaaggccggcttccgggcccttctctctgccccctgg tacctgaaccgtatatcctatggccctgactggaaggatttctacatagtggaacccctg gcatttgaaggtacccctgagcagaaggctctggtgattggtggagaggcttgtatgtgg ggagaatatgtggacaacacaaacctggtccccaggctctggcccagagcaggggctgtt gccgaaaggctgtggagcaacaagttgacatctgacctgacatttgcctatgaacgtttg tcacacttccgctgtgaattgctgaggcgaggtgtccaggcccaacccctcaatgtaggc ttctgtgagcaggagtttgaacagacctga

Homo sapiens (human): 3074 Help Entry 3074              CDS       T01001                                  Symbol HEXB, ENC-1AS, HEL-248, HEL-S-111 Name (RefSeq) hexosaminidase subunit beta   KO K12373   hexosaminidase [EC:3.2.1.52] Organism hsa  Homo sapiens (human) Pathway hsa00511   Other glycan degradation hsa00513   Various types of N-glycan biosynthesis hsa00520   Amino sugar and nucleotide sugar metabolism hsa00531   Glycosaminoglycan degradation hsa00600   Sphingolipid metabolism hsa00603   Glycosphingolipid biosynthesis - globo and isoglobo series hsa00604   Glycosphingolipid biosynthesis - ganglio series hsa01100   Metabolic pathways hsa04142   Lysosome Module hsa_M00079   Keratan sulfate degradation Network nt06012  Glycosaminoglycan degradation   Element N00623   Keratan sulfate degradation Disease H00124   GM2 gangliosidoses H00426   Gangliosidosis H02017   Sandhoff disease Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09101 Carbohydrate metabolism    00520 Amino sugar and nucleotide sugar metabolism     3074 (HEXB)   09103 Lipid metabolism    00600 Sphingolipid metabolism     3074 (HEXB)   09107 Glycan biosynthesis and metabolism    00513 Various types of N-glycan biosynthesis     3074 (HEXB)    00531 Glycosaminoglycan degradation     3074 (HEXB)    00603 Glycosphingolipid biosynthesis - globo and isoglobo series     3074 (HEXB)    00604 Glycosphingolipid biosynthesis - ganglio series     3074 (HEXB)    00511 Other glycan degradation     3074 (HEXB)  09140 Cellular Processes   09141 Transport and catabolism    04142 Lysosome     3074 (HEXB)  09180 Brite Hierarchies   09182 Protein families: genetic information processing    03110 Chaperones and folding catalysts [BR:hsa03110]     3074 (HEXB) Enzymes [BR:hsa01000]  3. Hydrolases   3.2  Glycosylases    3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds     3.2.1.52  beta-N-acetylhexosaminidase      3074 (HEXB) Chaperones and folding catalysts [BR:hsa03110]  Intramolecular chaperones   Others    3074 (HEXB) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Glyco_hydro_20 Glycohydro_20b2 Glyco_hydro_20b Glyco_transf_7C Motif Other DBs NCBI-GeneID:  3074 NCBI-ProteinID:  NP_000512 OMIM:  606873 HGNC:  4879 Ensembl:  ENSG00000049860 Pharos:  P07686(Tchem) UniProt:  P07686 A0A024RAJ6 Structure PDB LinkDB All DBs Position 5:74640023..74721288 Genome browser AA seq 556 aa AA seqDB search MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLP LLVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQA KTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVY QDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVD DQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKC WESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTI VEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQL FIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERG IAAQPLYAGYCNHENM NT seq 1671 nt NT seq  +upstreamnt  +downstreamnt atggagctgtgcgggctggggctgccccggccgcccatgctgctggcgctgctgttggcg acactgctggcggcgatgttggcgctgctgactcaggtggcgctggtggtgcaggtggcg gaggcggctcgggccccgagcgtctcggccaagccggggccggcgctgtggcccctgccg ctcttggtgaagatgaccccgaacctgctgcatctcgccccggagaacttctacatcagc cacagccccaattccacggcgggcccctcctgcaccctgctggaggaagcgtttcgacga tatcatggctatatttttggtttctacaagtggcatcatgaacctgctgaattccaggct aaaacccaggttcagcaacttcttgtctcaatcacccttcagtcagagtgtgatgctttc cccaacatatcttcagatgagtcttatactttacttgtgaaagaaccagtggctgtcctt aaggccaacagagtttggggagcattacgaggtttagagacctttagccagttagtttat caagattcttatggaactttcaccatcaatgaatccaccattattgattctccaaggttt tctcacagaggaattttgattgatacatccagacattatctgccagttaagattattctt aaaactctggatgccatggcttttaataagtttaatgttcttcactggcacatagttgat gaccagtctttcccatatcagagcatcacttttcctgagttaagcaataaaggaagctat tctttgtctcatgtttatacaccaaatgatgtccgtatggtgattgaatatgccagatta cgaggaattcgagtcctgccagaatttgatacccctgggcatacactatcttggggaaaa ggtcagaaagacctcctgactccatgttacagtagacaaaacaagttggactcttttgga cctataaaccctactctgaatacaacatacagcttccttactacatttttcaaagaaatt agtgaggtgtttccagatcaattcattcatttgggaggagatgaagtggaatttaaatgt tgggaatcaaatccaaaaattcaagatttcatgaggcaaaaaggctttggcacagatttt aagaaactagaatctttctacattcaaaaggttttggatattattgcaaccataaacaag ggatccattgtctggcaggaggtttttgatgataaagcaaagcttgcgccgggcacaata gttgaagtatggaaagacagcgcatatcctgaggaactcagtagagtcacagcatctggc ttccctgtaatcctttctgctccttggtacttagatttgattagctatggacaagattgg aggaaatactataaagtggaacctcttgattttggcggtactcagaaacagaaacaactt ttcattggtggagaagcttgtctatggggagaatatgtggatgcaactaacctcactcca agattatggcctcgggcaagtgctgttggtgagagactctggagttccaaagatgtcaga gatatggatgacgcctatgacagactgacaaggcaccgctgcaggatggtcgaacgtgga atagctgcacaacctctttatgctggatattgtaaccatgagaacatgtaa

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