Details for: HEXA

Gene ID: 3073

Symbol: HEXA

Ensembl ID: ENSG00000213614

Description: hexosaminidase subunit alpha

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 2.63
    Marker Score: 1599
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 2.18
    Marker Score: 13259
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 2.18
    Marker Score: 9076
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 2.12
    Marker Score: 2125
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.02
    Marker Score: 8692
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.98
    Marker Score: 50771
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.96
    Marker Score: 1078
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.92
    Marker Score: 7535
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.75
    Marker Score: 1852
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.69
    Marker Score: 2810
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.59
    Marker Score: 1121
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.51
    Marker Score: 608
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.5
    Marker Score: 5806
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.47
    Marker Score: 13923
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.46
    Marker Score: 89825
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.44
    Marker Score: 54872
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.44
    Marker Score: 3034.5
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 1.4
    Marker Score: 1605
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.4
    Marker Score: 11985
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.38
    Marker Score: 50806
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.37
    Marker Score: 27345
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.36
    Marker Score: 20345
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.36
    Marker Score: 10429
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.36
    Marker Score: 12777
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.31
    Marker Score: 5458
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.3
    Marker Score: 300
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.29
    Marker Score: 1309
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.29
    Marker Score: 43908
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.29
    Marker Score: 3450
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 1.26
    Marker Score: 1070
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.26
    Marker Score: 525
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.26
    Marker Score: 1941
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.25
    Marker Score: 360
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.25
    Marker Score: 1836
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.24
    Marker Score: 3247
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.24
    Marker Score: 5130
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 1.22
    Marker Score: 683
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.2
    Marker Score: 3322
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.19
    Marker Score: 41380.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.18
    Marker Score: 25226
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.18
    Marker Score: 787
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.17
    Marker Score: 740
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.17
    Marker Score: 343
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.17
    Marker Score: 288
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.16
    Marker Score: 1405
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.16
    Marker Score: 2925
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.16
    Marker Score: 64643
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.14
    Marker Score: 2807
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.14
    Marker Score: 1612
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.14
    Marker Score: 4658
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 1.14
    Marker Score: 2946
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.12
    Marker Score: 12595
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.12
    Marker Score: 557
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.12
    Marker Score: 809
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.11
    Marker Score: 2529
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 1.11
    Marker Score: 1130
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.11
    Marker Score: 249
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 1.08
    Marker Score: 1489
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.08
    Marker Score: 1910
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.06
    Marker Score: 529
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 1.06
    Marker Score: 3099
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.06
    Marker Score: 1921.5
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 1.05
    Marker Score: 383
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.04
    Marker Score: 1104
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.04
    Marker Score: 1666
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.03
    Marker Score: 293
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.03
    Marker Score: 4929
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.03
    Marker Score: 942
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 1.02
    Marker Score: 442
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 1.02
    Marker Score: 361
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.02
    Marker Score: 415
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.02
    Marker Score: 1057
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.01
    Marker Score: 378
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.01
    Marker Score: 203
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1
    Marker Score: 526
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71602
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47826
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.99
    Marker Score: 405
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.99
    Marker Score: 341
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.98
    Marker Score: 230
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30372
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.98
    Marker Score: 234
  • Cell Name: CD56-positive, CD161-positive immature natural killer cell, human (CL0002338)
    Fold Change: 0.98
    Marker Score: 321
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.97
    Marker Score: 647
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.97
    Marker Score: 504
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.97
    Marker Score: 335
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.97
    Marker Score: 2415
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.97
    Marker Score: 247
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.97
    Marker Score: 1133
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 0.96
    Marker Score: 1388
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 0.95
    Marker Score: 2427
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.95
    Marker Score: 695
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.95
    Marker Score: 573
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.95
    Marker Score: 1897
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.95
    Marker Score: 228
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.95
    Marker Score: 6063
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.94
    Marker Score: 303
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 0.94
    Marker Score: 930
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 0.94
    Marker Score: 299
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.94
    Marker Score: 2239

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Other Information

**Key characteristics:** * The HEXA gene is located on chromosome 17p13.1. * It is a large gene, encoding for a protein of approximately 1,500 amino acids. * HEXA is expressed in a variety of cell types, including myeloid dendritic cells, elicited macrophages, GABAergic neurons, Kupffer cells, decidual cells, alveolar macrophages, Hofbauer cells, and placental villous trophoblast. **Pathways and functions:** * HEXA is involved in a variety of pathways, including beta-n-acetylhexosaminidase activity, chondroitin sulfate/dermatan sulfate metabolism, Cs/ds degradation, defective hexa causes GM2G1, disease, diseases associated with glycosaminoglycan metabolism, diseases of glycosylation, and glycosphingolipid catabolism. * It is also involved in the metabolism of carbohydrates, lipids, and sphingolipids. **Clinical significance:** * Mutations in the HEXA gene have been linked to a number of human diseases, including Marfan syndrome, Ehlers-Danlos syndrome, and Glycosylation disorders. * Hexa deficiency can lead to a number of clinical symptoms, including joint pain, skin problems, and respiratory problems. * The HEXA gene is a promising target for the treatment of these disorders.

Genular Protein ID: 3653099386

Symbol: HEXA_HUMAN

Name: Beta-N-acetylhexosaminidase subunit alpha

UniProtKB Accession Codes:

P06865 B4DKE7 E7ENH7 Q53HS8 Q6AI32

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 20 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EC 1 EMBL 35 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 29 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 2 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 5 RefSeq 2 Rhea 10 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2933746

Title: Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.

PubMed ID: 2933746

DOI: 10.1073/pnas.82.23.7830

PubMed ID: 2952641

Title: Organization of the gene encoding the human beta-hexosaminidase alpha-chain.

PubMed ID: 2952641

DOI: 10.1016/s0021-9258(18)45628-1

PubMed ID: 1833974

Title: Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.

PubMed ID: 1833974

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11707436

Title: Physiological substrates for human lysosomal beta -hexosaminidase S.

PubMed ID: 11707436

DOI: 10.1074/jbc.m105457200

PubMed ID: 3013851

Title: Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.

PubMed ID: 3013851

DOI: 10.1016/s0021-9258(19)83927-3

PubMed ID: 2965147

Title: Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.

PubMed ID: 2965147

DOI: 10.1016/s0021-9258(18)68826-x

PubMed ID: 2971395

Title: Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.

PubMed ID: 2971395

DOI: 10.1021/bi00414a041

PubMed ID: 1533633

Title: Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis.

PubMed ID: 1533633

DOI: 10.1016/s0021-9258(19)50196-x

PubMed ID: 8123671

Title: Classification of disorders of GM2 ganglioside hydrolysis using 3H-GM2 as substrate.

PubMed ID: 8123671

DOI: 10.1016/0304-4165(94)90118-x

PubMed ID: 8672428

Title: Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A.

PubMed ID: 8672428

DOI: 10.1021/bi9524575

PubMed ID: 8652542

Title: Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.

PubMed ID: 8652542

DOI: 10.1021/bi960246+

PubMed ID: 9694901

Title: A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.

PubMed ID: 9694901

DOI: 10.1074/jbc.273.33.21386

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 8673609

Title: Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.

PubMed ID: 8673609

DOI: 10.1038/nsb0796-638

PubMed ID: 1825792

Title: The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.

PubMed ID: 1825792

DOI: 10.1016/0925-4439(91)90044-a

PubMed ID: 9090523

Title: Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.

PubMed ID: 9090523

DOI: 10.1002/(sici)1098-1004(1997)9:3<195::aid-humu1>3.0.co;2-7

PubMed ID: 16698036

Title: Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.

PubMed ID: 16698036

DOI: 10.1016/j.jmb.2006.04.004

PubMed ID: 2970528

Title: A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.

PubMed ID: 2970528

DOI: 10.1111/j.1471-4159.1988.tb01836.x

PubMed ID: 2522679

Title: The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.

PubMed ID: 2522679

DOI: 10.1126/science.2522679

PubMed ID: 2144098

Title: A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).

PubMed ID: 2144098

PubMed ID: 2140574

Title: Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.

PubMed ID: 2140574

DOI: 10.1016/s0021-9258(19)38870-2

PubMed ID: 1837283

Title: Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.

PubMed ID: 1837283

DOI: 10.1016/0888-7543(91)90109-r

PubMed ID: 1532289

Title: Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

PubMed ID: 1532289

PubMed ID: 1384323

Title: A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

PubMed ID: 1384323

PubMed ID: 1302612

Title: A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.

PubMed ID: 1302612

DOI: 10.1093/hmg/1.9.759

PubMed ID: 1301189

Title: A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.

PubMed ID: 1301189

DOI: 10.1002/humu.1380010106

PubMed ID: 1301190

Title: Novel Tay-Sachs disease mutations from China.

PubMed ID: 1301190

DOI: 10.1002/humu.1380010107

PubMed ID: 7902672

Title: A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.

PubMed ID: 7902672

PubMed ID: 8490625

Title: Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

PubMed ID: 8490625

DOI: 10.1093/hmg/2.1.61

PubMed ID: 8445615

Title: Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

PubMed ID: 8445615

DOI: 10.1136/jmg.30.2.123

PubMed ID: 7951261

Title: Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.

PubMed ID: 7951261

DOI: 10.1002/humu.1380040112

PubMed ID: 7837766

Title: Molecular genetics of Tay-Sachs disease in Japan.

PubMed ID: 7837766

DOI: 10.1007/bf00711597

PubMed ID: 7717398

Title: Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

PubMed ID: 7717398

PubMed ID: 8581357

Title: GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.

PubMed ID: 8581357

DOI: 10.1006/bmme.1995.1018

PubMed ID: 7898712

Title: A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.

PubMed ID: 7898712

DOI: 10.1212/wnl.45.3.539

PubMed ID: 8730294

Title: Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.

PubMed ID: 8730294

DOI: 10.1136/jmg.33.4.341

PubMed ID: 8757036

Title: Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.

PubMed ID: 8757036

DOI: 10.1212/wnl.47.2.547

PubMed ID: 9150157

Title: Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

PubMed ID: 9150157

PubMed ID: 9338583

Title: Tay-Sachs disease and HEXA mutations among Moroccan Jews.

PubMed ID: 9338583

DOI: 10.1002/(sici)1098-1004(1997)10:4<295::aid-humu5>3.0.co;2-g

PubMed ID: 9375850

Title: Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.

PubMed ID: 9375850

DOI: 10.1002/(sici)1098-1004(1997)10:5<359::aid-humu4>3.0.co;2-a

PubMed ID: 9401008

Title: Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

PubMed ID: 9401008

DOI: 10.1002/(sici)1098-1004(1997)10:6<451::aid-humu6>3.0.co;2-g

PubMed ID: 9603435

Title: W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.

PubMed ID: 9603435

DOI: 10.1002/(sici)1098-1004(1998)11:6<432::aid-humu3>3.0.co;2-z

PubMed ID: 14566483

Title: Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

PubMed ID: 14566483

DOI: 10.1007/s10038-003-0080-9

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22723944

Title: Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PubMed ID: 22723944

DOI: 10.1371/journal.pone.0039122

PubMed ID: 27682588

Title: Tay Sachs disease mutations in HEXA target the alpha chain of hexosaminidase A to ER-associated degradation.

PubMed ID: 27682588

DOI: 10.1091/mbc.e16-01-0012

Sequence Information:

  • Length: 529
  • Mass: 60703
  • Checksum: DACB3E3992E57A47
  • Sequence:
    • MTSSRLWFSL LLAAAFAGRA TALWPWPQNF QTSDQRYVLY PNNFQFQYDV SSAAQPGCSV 
LDEAFQRYRD LLFGSGSWPR PYLTGKRHTL EKNVLVVSVV TPGCNQLPTL ESVENYTLTI 
NDDQCLLLSE TVWGALRGLE TFSQLVWKSA EGTFFINKTE IEDFPRFPHR GLLLDTSRHY 
LPLSSILDTL DVMAYNKLNV FHWHLVDDPS FPYESFTFPE LMRKGSYNPV THIYTAQDVK 
EVIEYARLRG IRVLAEFDTP GHTLSWGPGI PGLLTPCYSG SEPSGTFGPV NPSLNNTYEF 
MSTFFLEVSS VFPDFYLHLG GDEVDFTCWK SNPEIQDFMR KKGFGEDFKQ LESFYIQTLL 
DIVSSYGKGY VVWQEVFDNK VKIQPDTIIQ VWREDIPVNY MKELELVTKA GFRALLSAPW 
YLNRISYGPD WKDFYIVEPL AFEGTPEQKA LVIGGEACMW GEYVDNTNLV PRLWPRAGAV 
AERLWSNKLT SDLTFAYERL SHFRCELLRR GVQAQPLNVG FCEQEFEQT

Genular Protein ID: 2313615719

Symbol: H3BP20_HUMAN

Name: N/A

UniProtKB Accession Codes:

H3BP20

Database IDs:

ARBA 14 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 20 ChiTaRS 1 DNASU 1 EC 1 EMBL 2 EPD 2 Ensembl 2 ExpressionAtlas 1 GO 7 Gene3D 2 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 5 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 2 PRINTS 1 PeptideAtlas 1 Pfam 4 PhylomeDB 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 10 SAM 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 540
  • Mass: 61999
  • Checksum: 96ED0A41744DF430
  • Sequence:
    • MTSSRLWFSL LLAAAFAGRA TALWPWPQNF QTSDQRYVLY PNNFQFQYDV SSAAQPGCSV 
LDEAFQRYRD LLFGSGSWPR PYLTGWPHQA YPVFLGKRHT LEKNVLVVSV VTPGCNQLPT 
LESVENYTLT INDDQCLLLS ETVWGALRGL ETFSQLVWKS AEGTFFINKT EIEDFPRFPH 
RGLLLDTSRH YLPLSSILDT LDVMAYNKLN VFHWHLVDDP SFPYESFTFP ELMRKGSYNP 
VTHIYTAQDV KEVIEYARLR GIRVLAEFDT PGHTLSWGPG IPGLLTPCYS GSEPSGTFGP 
VNPSLNNTYE FMSTFFLEVS SVFPDFYLHL GGDEVDFTCW KSNPEIQDFM RKKGFGEDFK 
QLESFYIQTL LDIVSSYGKG YVVWQEVFDN KVKIQPDTII QVWREDIPVN YMKELELVTK 
AGFRALLSAP WYLNRISYGP DWKDFYIVEP LAFEGTPEQK ALVIGGEACM WGEYVDNTNL 
VPRLWPRAGA VAERLWSNKL TSDLTFAYER LSHFRCELLR RGVQAQPLNV GFCEQEFEQT

Genular Protein ID: 1183119447

Symbol: B4DVA7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DVA7

Database IDs:

ARBA 14 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 20 DNASU 1 EC 1 EMBL 2 GO 5 Gene3D 2 GenomeRNAi 1 InterPro 5 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 2 PRINTS 1 PeptideAtlas 1 Pfam 4 RefSeq 1 Rhea 10 SAM 1 SUPFAM 2

Sequence Information:

  • Length: 540
  • Mass: 62013
  • Checksum: 25621BA3C0C1520A
  • Sequence:
    • MTSSRLWFSL LLAAAFAGRA TALWPWPQNF QTSDQRYVLY PNNFRFQYDV SSAAQPGCSV 
LDEAFQRYRD LLFGSGSWPR PYLTGWPHQA YPVFLGKRHT LEKNVLVVSV VTPGCNQLPT 
LESVENYTLT INDDQCLLLS ETVWGALRGL ETFSQLVWKS AEGTFFINKT EIEDFPRFPH 
RGLLLDTSRH YLPLSSILDT LDVMAYNKLN VFHWHLVDDP SFPYESFTFP ELMRKGSYNP 
VTHIYTAQDV KEVIEYARLR GIRVLAEFDT PGHTLSWGPG IPGLLTPCYS GSEPSGTFGP 
VNPSLNNTYE FMSTFFLEVS SVFPDFYLHL GGDEVDFTCW KSNPEIQDFM RKKGFGEDFK 
QLESFYIQTL LDIVSSYGKG YVVWQEVFDN KVKIQPDTII QVWREDIPVN YMKELELVTK 
AGFRALLSAP WYLNRISYGP DWKDFYVVEP LAFEGTPEQK ALVIGGEACM WGEYVDNTNL 
VPRLWPRAGA VAERLWSNKL TSDLTFAYER LSHFRCELLR RGVQAQPLNV GFCEQEFEQT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.