Human Gene HEXD (ENST00000327949.15) from GENCODE V44
Description: Homo sapiens hexosaminidase D (HEXD), transcript variant 4, mRNA. (from RefSeq NM_001369488)
Gencode Transcript: ENST00000327949.15
Gencode Gene: ENSG00000169660.17
Transcript (Including UTRs)
Position: hg38 chr17:82,418,347-82,442,645 Size: 24,299 Total Exon Count: 13 Strand: +
Coding Region
Position: hg38 chr17:82,419,800-82,442,384 Size: 22,585 Coding Exon Count: 12
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: HEXDC_HUMAN
DESCRIPTION: RecName: Full=Hexosaminidase D; EC=3.2.1.52; AltName: Full=Beta-N-acetylhexosaminidase; AltName: Full=Beta-hexosaminidase D; AltName: Full=Hexosaminidase domain-containing protein; AltName: Full=N-acetyl-beta-galactosaminidase;
FUNCTION: Has hexosaminidase activity.CATALYTIC ACTIVITY: Hydrolysis of terminal non-reducing N-acetyl- D-hexosamine residues in N-acetyl-beta-D-hexosaminides.ENZYME REGULATION: Inhibited by O-(2-acetamido-2-deoxy-D- glucopyranosylidene)amino N-phenylcarbamate (PUGNAc) (By similarity).SUBUNIT: Homodimer; disulfide-linked (By similarity).SUBCELLULAR LOCATION: Cytoplasm. Nucleus (By similarity).SIMILARITY: Belongs to the glycosyl hydrolase 20 family.SEQUENCE CAUTION: Sequence=AAH18205.2; Type=Erroneous initiation; Sequence=AAH35561.1; Type=Erroneous initiation; Sequence=BAB85072.1; Type=Erroneous initiation;
Primer design for this transcript
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR015883 - Glyco_hydro_20_cat-core
IPR013781 - Glyco_hydro_catalytic_dom
IPR017853 - Glycoside_hydrolase_SF
Pfam Domains: PF00728 - Glycosyl hydrolase family 20, catalytic domain
ModBase Predicted Comparative 3D Structure on Q8WVB3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
BC035561 - Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing, mRNA (cDNA clone MGC:40554 IMAGE:5211583), complete cds.BC018205 - Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing, mRNA (cDNA clone MGC:9663 IMAGE:3464710), complete cds.FM204887 - Homo sapiens mRNA for hexosaminidase D (HEXDC gene), cell line HEK293.AK074405 - Homo sapiens cDNA FLJ23825 fis, clone HUV00659.JD551610 - Sequence 532634 from Patent EP1572962.JD210886 - Sequence 191910 from Patent EP1572962.JD168159 - Sequence 149183 from Patent EP1572962.JD086972 - Sequence 67996 from Patent EP1572962.CU690106 - Synthetic construct Homo sapiens gateway clone IMAGE:100019656 5' read HEXDC mRNA.JF432803 - Synthetic construct Homo sapiens clone IMAGE:100074120 hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC) gene, encodes complete protein.KJ905067 - Synthetic construct Homo sapiens clone ccsbBroadEn_14461 HEXDC gene, encodes complete protein.AK295197 - Homo sapiens cDNA FLJ57850 complete cds, moderately similar to Mus musculus hexosaminidase containing (Hexdc), mRNA.AK316085 - Homo sapiens cDNA, FLJ78984 complete cds, highly similar to Mus musculus hexosaminidase containing (Hexdc), mRNA.AK297272 - Homo sapiens cDNA FLJ57845 complete cds, moderately similar to Mus musculus hexosaminidase containing (Hexdc), mRNA.JD202347 - Sequence 183371 from Patent EP1572962.
Other Names for This Gene
Alternate Gene Symbols: B7UUP6, ENST00000327949.1, ENST00000327949.10, ENST00000327949.11, ENST00000327949.12, ENST00000327949.13, ENST00000327949.14, ENST00000327949.2, ENST00000327949.3, ENST00000327949.4, ENST00000327949.5, ENST00000327949.6, ENST00000327949.7, ENST00000327949.8, ENST00000327949.9, HEXDC, HEXDC_HUMAN, NM_001369488, Q8IYN4, Q8TE81, Q8WVB3, uc002kew.1, uc002kew.2, uc002kew.3, uc002kew.4, uc002kew.5, uc002kew.6UCSC ID: ENST00000327949.15RefSeq Accession: NM_001330542
Protein: Q8WVB3
(aka HEXDC_HUMAN)
CCDS: CCDS82231.1
Methods, Credits, and Use Restrictions
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