ID H3BVH8_HUMAN Unreviewed; 128 AA. AC H3BVH8; DT 18-APR-2012, integrated into UniProtKB/TrEMBL. DT 18-APR-2012, sequence version 1. DT 16-JAN-2019, entry version 38. DE SubName: Full=Beta-hexosaminidase subunit alpha {ECO:0000313|Ensembl:ENSP00000458128}; DE Flags: Fragment; GN Name=HEXA {ECO:0000313|Ensembl:ENSP00000458128}; 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:ENSP00000458128, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000458128, 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:ENSP00000458128} 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; H3BVH8; -. DR jPOST; H3BVH8; -. DR PeptideAtlas; H3BVH8; -. DR PRIDE; H3BVH8; -. DR Ensembl; ENST00000568260; ENSP00000458128; ENSG00000213614. DR UCSC; uc059lbp.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; H3BVH8; 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 16 {ECO:0000256|SAM:SignalP}. FT CHAIN 17 128 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003581548. FT DOMAIN 17 76 Glycohydro_20b2. FT {ECO:0000259|Pfam:PF14845}. FT NON_TER 1 1 {ECO:0000313|Ensembl:ENSP00000458128}. SQ SEQUENCE 128 AA; 14392 MW; E7BF6149F8ACDBFE CRC64; XFSLLLAAAF AGRATALWPW PQNFQTSDQR YVLYPNNFQF QYDVSSAAQP GCSVLDEAFQ RYRDLLFGSG SWPRPYLTGK RHTLEKNVLV VSVVTPGCNQ LPTLESVENC IPVPFARRRL LSSFCCGN //