ID H3BQ04_HUMAN Unreviewed; 143 AA. AC H3BQ04; DT 18-APR-2012, integrated into UniProtKB/TrEMBL. DT 18-APR-2012, sequence version 1. DT 16-JAN-2019, entry version 36. DE SubName: Full=Beta-hexosaminidase subunit alpha {ECO:0000313|Ensembl:ENSP00000455545}; GN Name=HEXA {ECO:0000313|Ensembl:ENSP00000455545}; 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:ENSP00000455545, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000455545, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16572171; DOI=10.1038/nature04601; RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S., RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., RA Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., RA Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., RA Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., RA Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., RA Sneddon K.M., Stewart S., Sougnez C., Stone S.M., Topham K., RA Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., RA Nusbaum C.; RT "Analysis of the DNA sequence and duplication history of human RT chromosome 15."; RL Nature 440:671-675(2006). RN [2] {ECO:0000313|Ensembl:ENSP00000455545} RP IDENTIFICATION. RG Ensembl; RL Submitted (FEB-2012) 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; AC009690; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF456090; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR ProteinModelPortal; H3BQ04; -. DR jPOST; H3BQ04; -. DR PeptideAtlas; H3BQ04; -. DR PRIDE; H3BQ04; -. DR Ensembl; ENST00000567411; ENSP00000455545; ENSG00000213614. DR UCSC; uc059lbh.1; human. DR EuPathDB; HostDB:ENSG00000213614.9; -. DR HGNC; HGNC:4878; HEXA. DR OpenTargets; ENSG00000213614; -. DR eggNOG; KOG2499; Eukaryota. DR eggNOG; COG3525; LUCA. DR GeneTree; ENSGT00390000008107; -. DR ChiTaRS; HEXA; human. DR Proteomes; UP000005640; Chromosome 15. DR Bgee; ENSG00000213614; Expressed in 225 organ(s), highest expression level in tendon of biceps brachii. DR ExpressionAtlas; H3BQ04; baseline and differential. DR Gene3D; 3.30.379.10; -; 1. DR InterPro; IPR029018; Hex-like_dom2. DR InterPro; IPR029019; HEX_eukaryotic_N. DR Pfam; PF14845; Glycohydro_20b2; 1. DR SUPFAM; SSF55545; SSF55545; 1. PE 4: Predicted; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}. FT SIGNAL 1 22 {ECO:0000256|SAM:SignalP}. FT CHAIN 23 143 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003581461. FT DOMAIN 23 139 Glycohydro_20b2. FT {ECO:0000259|Pfam:PF14845}. SQ SEQUENCE 143 AA; 16274 MW; 5450EA473996F0FC CRC64; MTSSRLWFSL LLAAAFAGRA TALWPWPQNF QTSDQRYVLY PNNFQFQYDV SSAAQPGCSV LDEAFQRYRD LLFGSGSWPR PYLTGKRHTL EKNVLVVSVV TPGCNQLPTL ESVENYTLTI NDDQCLLLSE TVWGALRVLY QQD //