LOCUS       NM_000521               1812 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens hexosaminidase subunit beta (HEXB), transcript variant
            1, mRNA.
ACCESSION   NM_000521
VERSION     NM_000521.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1812)
  AUTHORS   Abtahi,R., Karimzadeh,P., Rezayi,A., Salehpour,S., Akbarzadeh,D.,
            Tonekaboni,S.H., Emameh,R.Z. and Houshmand,M.
  TITLE     Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian
            Patients
  JOURNAL   J Mol Neurosci 72 (3), 555-564 (2022)
   PUBMED   34554397
  REMARK    GeneRIF: Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68
            Iranian Patients.
REFERENCE   2  (bases 1 to 1812)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1812)
  AUTHORS   Tim-Aroon,T., Wichajarn,K., Katanyuwong,K., Tanpaiboon,P.,
            Vatanavicharn,N., Sakpichaisakul,K., Kongkrapan,A.,
            Eu-Ahsunthornwattana,J., Thongpradit,S., Moolsuwan,K.,
            Satproedprai,N., Mahasirimongkol,S., Lerksuthirat,T.,
            Suktitipat,B., Jinawath,N. and Wattanasirichaigoon,D.
  TITLE     Infantile onset Sandhoff disease: clinical manifestation and a
            novel common mutation in Thai patients
  JOURNAL   BMC Pediatr 21 (1), 22 (2021)
   PUBMED   33407268
  REMARK    GeneRIF: Infantile onset Sandhoff disease: clinical manifestation
            and a novel common mutation in Thai patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1812)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1812)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1812)
  AUTHORS   Xiao,C., Tifft,C. and Toro,C.
  TITLE     Sandhoff Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   35420740
REFERENCE   7  (bases 1 to 1812)
  AUTHORS   Bolhuis,P.A. and Bikker,H.
  TITLE     Deletion of the 5'-region in one or two alleles of HEXB in 15 out
            of 30 patients with Sandhoff disease
  JOURNAL   Hum Genet 90 (3), 328-329 (1992)
   PUBMED   1487253
REFERENCE   8  (bases 1 to 1812)
  AUTHORS   McInnes,B., Potier,M., Wakamatsu,N., Melancon,S.B., Klavins,M.H.,
            Tsuji,S. and Mahuran,D.J.
  TITLE     An unusual splicing mutation in the HEXB gene is associated with
            dramatically different phenotypes in patients from different racial
            backgrounds
  JOURNAL   J Clin Invest 90 (2), 306-314 (1992)
   PUBMED   1386607
REFERENCE   9  (bases 1 to 1812)
  AUTHORS   Wakamatsu,N., Kobayashi,H., Miyatake,T. and Tsuji,S.
  TITLE     A novel exon mutation in the human beta-hexosaminidase beta subunit
            gene affects 3' splice site selection
  JOURNAL   J Biol Chem 267 (4), 2406-2413 (1992)
   PUBMED   1531140
REFERENCE   10 (bases 1 to 1812)
  AUTHORS   Gilbert,F., Kucherlapati,R., Creagan,R.P., Murnane,M.J.,
            Darlington,G.J. and Ruddle,F.H.
  TITLE     Tay-Sachs' and Sandhoff's diseases: the assignment of genes for
            hexosaminidase A and B to individual human chromosomes
  JOURNAL   Proc Natl Acad Sci U S A 72 (1), 263-267 (1975)
   PUBMED   1054503
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026405.5 and AC093214.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000521.3.
            
            Summary: Hexosaminidase B is the beta subunit of the lysosomal
            enzyme beta-hexosaminidase that, together with the cofactor GM2
            activator protein, catalyzes the degradation of the ganglioside
            GM2, and other molecules containing terminal N-acetyl hexosamines.
            Beta-hexosaminidase is composed of two subunits, alpha and beta,
            which are encoded by separate genes. Both beta-hexosaminidase alpha
            and beta subunits are members of family 20 of glycosyl hydrolases.
            Mutations in the alpha or beta subunit genes lead to an
            accumulation of GM2 ganglioside in neurons and neurodegenerative
            disorders termed the GM2 gangliosidoses. Beta subunit gene
            mutations lead to Sandhoff disease (GM2-gangliosidosis type II).
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, May
            2014].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF378118.1, SRR3476690.59226.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261416.12/ ENSP00000261416.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-327               AC026405.5         143931-144257
            328-473             AC026405.5         148026-148171
            474-539             AC026405.5         152337-152402
            540-586             AC026405.5         155391-155437
            587-697             AC026405.5         155694-155804
            698-799             AC026405.5         163917-164018
            800-929             AC093214.2         28929-29058
            930-1110            AC093214.2         30933-31113
            1111-1197           AC093214.2         32010-32096
            1198-1270           AC093214.2         33714-33786
            1271-1445           AC093214.2         34220-34394
            1446-1536           AC093214.2         35851-35941
            1537-1641           AC093214.2         36066-36170
            1642-1812           AC093214.2         36541-36711
FEATURES             Location/Qualifiers
     source          1..1812
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.3"
     gene            1..1812
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="hexosaminidase subunit beta"
                     /db_xref="GeneID:3074"
                     /db_xref="HGNC:HGNC:4879"
                     /db_xref="MIM:606873"
     exon            1..327
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1699
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /EC_number="3.2.1.52"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; beta-hexosaminidase subunit beta; HCC-7;
                     hexosaminidase subunit B; beta-N-acetylhexosaminidase
                     subunit beta; cervical cancer proto-oncogene 7 protein;
                     N-acetyl-beta-glucosaminidase subunit beta; epididymis
                     luminal protein 248; epididymis secretory protein Li 111;
                     hexosaminidase B (beta polypeptide); beta-hexosaminidase
                     beta-subunit; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="beta-hexosaminidase subunit beta isoform 1
                     preproprotein"
                     /protein_id="NP_000512.2"
                     /db_xref="CCDS:CCDS4022.1"
                     /db_xref="GeneID:3074"
                     /db_xref="HGNC:HGNC:4879"
                     /db_xref="MIM:606873"
                     /translation="MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAAR
                     APSVSAKPGPALWPLPLLVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYH
                     GYIFGFYKWHHEPAEFQAKTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVL
                     KANRVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKI
                     ILKTLDAMAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIE
                     YARLRGIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLT
                     TFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVL
                     DIIATINKGSIVWQEVFDDKAKLAPGTIVEVWKDSAYPEELSRVTASGFPVILSAPWY
                     LDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASA
                     VGERLWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM"
     exon            328..473
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            474..539
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            540..586
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            587..697
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            698..799
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            800..929
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1110
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            1111..1197
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            1198..1270
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            1271..1445
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            1446..1536
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1641
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     exon            1642..1812
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1789..1794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="hexamer: AATAAA"
     polyA_site      1812
                     /gene="HEXB"
                     /gene_synonym="ENC-1AS; HEL-248; HEL-S-111"
                     /note="major polyA site"
ORIGIN      
        1 agaccgggcg gaaagcagcc gagcggccat ggagctgtgc gggctggggc tgccccggcc
       61 gcccatgctg ctggcgctgc tgttggcgac actgctggcg gcgatgttgg cgctgctgac
      121 tcaggtggcg ctggtggtgc aggtggcgga ggcggctcgg gccccgagcg tctcggccaa
      181 gccggggccg gcgctgtggc ccctgccgct cttggtgaag atgaccccga acctgctgca
      241 tctcgccccg gagaacttct acatcagcca cagccccaat tccacggcgg gcccctcctg
      301 caccctgctg gaggaagcgt ttcgacgata tcatggctat atttttggtt tctacaagtg
      361 gcatcatgaa cctgctgaat tccaggctaa aacccaggtt cagcaacttc ttgtctcaat
      421 cacccttcag tcagagtgtg atgctttccc caacatatct tcagatgagt cttatacttt
      481 acttgtgaaa gaaccagtgg ctgtccttaa ggccaacaga gtttggggag cattacgagg
      541 tttagagacc tttagccagt tagtttatca agattcttat ggaactttca ccatcaatga
      601 atccaccatt attgattctc caaggttttc tcacagagga attttgattg atacatccag
      661 acattatctg ccagttaaga ttattcttaa aactctggat gccatggctt ttaataagtt
      721 taatgttctt cactggcaca tagttgatga ccagtctttc ccatatcaga gcatcacttt
      781 tcctgagtta agcaataaag gaagctattc tttgtctcat gtttatacac caaatgatgt
      841 ccgtatggtg attgaatatg ccagattacg aggaattcga gtcctgccag aatttgatac
      901 ccctgggcat acactatctt ggggaaaagg tcagaaagac ctcctgactc catgttacag
      961 tagacaaaac aagttggact cttttggacc tataaaccct actctgaata caacatacag
     1021 cttccttact acatttttca aagaaattag tgaggtgttt ccagatcaat tcattcattt
     1081 gggaggagat gaagtggaat ttaaatgttg ggaatcaaat ccaaaaattc aagatttcat
     1141 gaggcaaaaa ggctttggca cagattttaa gaaactagaa tctttctaca ttcaaaaggt
     1201 tttggatatt attgcaacca taaacaaggg atccattgtc tggcaggagg tttttgatga
     1261 taaagcaaag cttgcgccgg gcacaatagt tgaagtatgg aaagacagcg catatcctga
     1321 ggaactcagt agagtcacag catctggctt ccctgtaatc ctttctgctc cttggtactt
     1381 agatttgatt agctatggac aagattggag gaaatactat aaagtggaac ctcttgattt
     1441 tggcggtact cagaaacaga aacaactttt cattggtgga gaagcttgtc tatggggaga
     1501 atatgtggat gcaactaacc tcactccaag attatggcct cgggcaagtg ctgttggtga
     1561 gagactctgg agttccaaag atgtcagaga tatggatgac gcctatgaca gactgacaag
     1621 gcaccgctgc aggatggtcg aacgtggaat agctgcacaa cctctttatg ctggatattg
     1681 taaccatgag aacatgtaaa aaatggaggg gaaaaaggcc acagcaatct gtactacaat
     1741 caactttatt ttgaaatcat gtaaaataag atattagact gttttttgaa taaaatattt
     1801 ttattgattg aa
//
