ENSMUSG00000025232


Mus musculus

Features
Gene ID: ENSMUSG00000025232
  
Biological name :Hexa
  
Synonyms : Beta-hexosaminidase subunit alpha / Hexa / P29416
  
Possible biological names infered from orthology : AC009690.1 / hexosaminidase subunit alpha / P06865
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: B
Gene start: 59539540
Gene end: 59565109
  
Corresponding Affymetrix probe sets: 10585874 (MoGene1.0st)   1449024_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000026262
NCBI entrez gene - 15211     See in Manteia.
MGI - MGI:96073
RefSeq - NM_010421
RefSeq - XM_017313136
RefSeq Peptide - NP_034551
swissprot - P29416
Ensembl - ENSMUSG00000025232
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hexaENSDARG00000052113Danio rerio
 HEXAENSGALG00000043828Gallus gallus
 AC009690.1ENSG00000260729Homo sapiens
 HEXAENSG00000213614Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Hexb / P20060 / Beta-hexosaminidase subunit beta / P07686* / hexosaminidase subunit beta*ENSMUSG0000002166553


Protein motifs (from Interpro)
Interpro ID Name
 IPR015883  Glycoside hydrolase family 20, catalytic domain
 IPR017853  Glycoside hydrolase superfamily
 IPR025705  Beta-hexosaminidase
 IPR029018  Beta-hexosaminidase-like, domain 2
 IPR029019  Beta-hexosaminidase, eukaryotic type, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development IGI
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006024 glycosaminoglycan biosynthetic process ISO
 biological_processGO:0006689 ganglioside catabolic process IMP
 biological_processGO:0007040 lysosome organization IMP
 biological_processGO:0007605 sensory perception of sound IGI
 biological_processGO:0007626 locomotory behavior IGI
 biological_processGO:0007628 adult walking behavior IMP
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0019915 lipid storage IMP
 biological_processGO:0019953 sexual reproduction IMP
 biological_processGO:0030203 glycosaminoglycan metabolic process IGI
 biological_processGO:0042552 myelination IGI
 biological_processGO:0048667 cell morphogenesis involved in neuron differentiation IMP
 biological_processGO:0050884 neuromuscular process controlling posture IMP
 biological_processGO:0050885 neuromuscular process controlling balance IGI
 biological_processGO:0060395 SMAD protein signal transduction IDA
 cellular_componentGO:0005764 lysosome IDA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0042582 azurophil granule ISO
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
 molecular_functionGO:0004563 beta-N-acetylhexosaminidase activity IMP
 molecular_functionGO:0008375 acetylglucosaminyltransferase activity ISO
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA
 molecular_functionGO:0046982 protein heterodimerization activity ISO
 molecular_functionGO:0102148 N-acetyl-beta-D-galactosaminidase activity IEA


Pathways (from Reactome)
Pathway description
Glycosphingolipid metabolism
Keratan sulfate degradation
CS/DS degradation
Hyaluronan uptake and degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000130 abnormal cancellous bone morphology "structural anomaly of bone that has a latticelike or spongy structure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000137 abnormal vertebrae morphology "malformed bony segment of the spinal column" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000150 abnormal rib morphology "malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000435 shortened head "reduced anterior-posterior length of the head" [J:42035]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000458 abnormal mandible morphology "malformation of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Emx1tm1(cre)Ito/Emx1+,Grin1tm1Stl/Grin1tm2Stl
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * 129S4/SvJae * C57BL/6

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000947 convulsive seizures "seizures characterized by uncontrolled motor activity" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Matktm1Suda/Matktm1Suda
Genetic Background: involves: C57BL/6 * CBA

 MP:0000951 sporadic seizures "occasional seizures occuring at irregular intervals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0000952 abnormal CNS glia "anomalous structure, number or composition of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Matktm1Suda/Matktm1Suda
Genetic Background: involves: C57BL/6 * CBA

 MP:0001314 corneal opacity "complete or partial clouding of the cornea" [jte:Janan T. Eppig , Mouse Genome Informatics, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Matktm1Suda/Matktm1Suda
Genetic Background: involves: C57BL/6 * CBA

 MP:0001526 abnormal placing response "altered ability to stretch and lift the forelimbs and head to grab a close edge " [J:66943, MGI:cml]
Show

Allelic Composition: Matktm1Suda/Matktm1Suda
Genetic Background: involves: C57BL/6 * CBA

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Matktm1Suda/Matktm1Suda
Genetic Background: involves: C57BL/6 * CBA

 MP:0001967 deafness "inability to hear" [J:57651]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cftrtm2Hgu/Cftrtm2Hgu
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002090 abnormal vision "inability or decreased ability to see " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Matktm1Suda/Matktm1Suda
Genetic Background: involves: C57BL/6 * CBA

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002114 abnormal axial skeleton morphology "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
Show

Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

 MP:0002631 abnormal epididymis morphology "malformation of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Matktm1Suda/Matktm1Suda
Genetic Background: involves: C57BL/6 * CBA

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Hexatm1Grv/Hexatm1Grv
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Foxa2tm1Khk/Foxa2tm1Khk,Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Hexatm1Grv/Hexatm1Grv
Genetic Background: involves: 129P2/Ola * C57BL/6J

Allelic Composition: Hexatm1Cota/Hexatm1Cota
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0003632 abnormal nervous system morphology 
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0003633 abnormal nervous system physiology 
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Hexatm1Grv/Hexatm1Grv
Genetic Background: involves: 129P2/Ola * C57BL/6J

 MP:0003807 camptodactyly "permanant flexion of one or more digits; contractures may also be seen in the wrists and at the elbows" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004676 wide ribs "an increase in the width of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0008151 increased diameter of long bones "increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0009643 abnormal urine homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0010099 abnormal thoracic cage shape "anomaly in the overall regular dome shape of the ribcage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0011473 increased urine glycosaminoglycan level "greater in the amount of glycosaminoglycan in the urine, including chondroitin sulfate, dermatan sulfate, keratan sulfate, heparin sulfate, heparin, and/or hyaluronan and other long unbranched polysaccharides consisting of a repeating disaccharide unit" [MGI:csmith]
Show

Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0030189 broad snout "increased width of the anterior facial part of the face or muzzle containing the oral and nasal regions" [MGI:anna]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

 MP:0030262 frontal bossing "bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline; this is not the same as prominent forehead" [HP:0002007, PMID:19125436]
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Allelic Composition: Hexatm1Rlp/Hexatm1Rlp,Hexbtm1Rlp/Hexbtm1Rlp
Genetic Background: involves: 129S4/SvJae * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021665 Hexb / P20060 / Beta-hexosaminidase subunit beta / P07686* / hexosaminidase subunit beta*  / complex
 ENSMUSG00000000594 Gm2a / Q60648 / Ganglioside GM2 activator / P17900* / GM2 ganglioside activator*  / reaction






 

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