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    Sez6 seizure related gene 6 [ Mus musculus (house mouse) ]

    Gene ID: 20370, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Sez6provided by MGI
    Official Full Name
    seizure related gene 6provided by MGI
    Primary source
    MGI:MGI:104745
    See related
    Ensembl:ENSMUSG00000000632 AllianceGenome:MGI:104745
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    sez-6; BSRP-C; D11Bhm177e
    Summary
    Acts upstream of or within several processes, including activation of protein kinase C activity; excitatory postsynaptic potential; and nervous system development. Located in several cellular components, including dendrite; neuronal cell body; and perinuclear region of cytoplasm. Is expressed in several structures, including central nervous system; genitourinary system; hemolymphoid system gland; liver; and retina. Orthologous to human SEZ6 (seizure related 6 homolog). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in whole brain E14.5 (RPKM 47.2), CNS E14 (RPKM 47.1) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sez6 in Genome Data Viewer
    Location:
    11 B5; 11 46.74 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (77821403..77869874)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (77930587..77979052)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_30076 Neighboring gene VISTA enhancer mm981 Neighboring gene predicted gene, 29979 Neighboring gene predicted gene 11190 Neighboring gene STARR-seq mESC enhancer starr_30082 Neighboring gene predicted gene, 53689 Neighboring gene PHD finger protein 12 Neighboring gene predicted gene, 51908

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Differential brain expression pattern of Sez6 alternative splicing isoform with deleted transmembrane domain. Hidaka C, et al. Biochem Biophys Res Commun, 2022 Dec 25. PMID 36368155
    2. SEZ-6: promoter selectivity, genomic structure and localized expression in the brain. Herbst R, et al. Brain Res Mol Brain Res, 1997 Mar. PMID 9073173
    3. Lack of Sez6 Family Proteins Impairs Motor Functions, Short-Term Memory, and Cognitive Flexibility and Alters Dendritic Spine Properties. Nash A, et al. Cereb Cortex, 2020 Apr 14. PMID 31711114
    4. N-Glycosylation modulates filopodia-like protrusions induced by sez-6 through regulating the distribution of this protein on the cell surface. Hidaka C, et al. Biochem Biophys Res Commun, 2015 Jul 10. PMID 25960298
    5. The distribution of the seizure-related gene 6 (Sez-6) protein during postnatal development of the mouse forebrain suggests multiple functions for this protein: an analysis using a new antibody. Osaki G, et al. Brain Res, 2011 Apr 22. PMID 21334315

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differential brain expression pattern of Sez6 alternative splicing isoform with deleted transmembrane domain.
      Title: Differential brain expression pattern of Sez6 alternative splicing isoform with deleted transmembrane domain.
    2. BACE inhibitor treatment of mice induces hyperactivity in a Seizure-related gene 6 family dependent manner without altering learning and memory.
      Title: BACE inhibitor treatment of mice induces hyperactivity in a Seizure-related gene 6 family dependent manner without altering learning and memory.
    3. Lack of Sez6 Family Proteins Impairs Motor Functions, Short-Term Memory, and Cognitive Flexibility and Alters Dendritic Spine Properties.
      Title: Lack of Sez6 Family Proteins Impairs Motor Functions, Short-Term Memory, and Cognitive Flexibility and Alters Dendritic Spine Properties.
    4. Seizure protein 6 controls glycosylation and trafficking of kainate receptor subunits GluK2 and GluK3.
      Title: Seizure protein 6 controls glycosylation and trafficking of kainate receptor subunits GluK2 and GluK3.
    5. Results show that NPC1 loss-of-function in a mouse model of Niemann-Pick type C disease leads to enhanced cleavage of BACE1 substrates Sez6 and Sez6L, in addition to APP, and that this effect most likely involves altered trafficking of BACE1 and of its substrates within the endolysosomal system. Efficacy of Sez6 cleavage by BACE1 may be spatiotemporally differently regulated in contrast to the cleavage of Sez6L.
      Title: BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains.
    6. study demonstrates that SEZ6 and SEZ6L are physiological BACE1 substrates in the murine brain and suggests that sSEZ6 and sSEZ6L levels in CSF are suitable markers to monitor BACE1 inhibition in mice
      Title: Seizure protein 6 and its homolog seizure 6-like protein are physiological substrates of BACE1 in neurons.
    7. results indicate that N-glycosylation regulates cell morphology through modulating the cell surface distribution of sez-6 protein
      Title: N-Glycosylation modulates filopodia-like protrusions induced by sez-6 through regulating the distribution of this protein on the cell surface.
    8. co-expression of sez-6 with motopsin restored the effect of motopsin at the basal level, while sez-6 expression alone showed no effects on cell morphology. Our results suggest that the interaction of motopsin and sez-6 modulates neuronal cell morphology
      Title: A mental retardation gene, motopsin/prss12, modulates cell morphology by interaction with seizure-related gene 6.
    9. Spatiotemporal alterations of the regional and intracellular distribution of Sez-6 suggest its multiple functions during the postnatal development of the forebrain.
      Title: The distribution of the seizure-related gene 6 (Sez-6) protein during postnatal development of the mouse forebrain suggests multiple functions for this protein: an analysis using a new antibody.
    10. Retinal morphology, ganglion cell dendritic branching and ERG waveforms appeared normal in the Sez-6 knockout mouse suggesting that, in spite of widespread expression of Sez-6, retinal function in the absence of Sez-6 is not affected
      Title: Seizure-related gene 6 (Sez-6) in amacrine cells of the rodent retina and the consequence of gene deletion.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (2)  1 citation

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA4158, D11Bhm177e

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within activation of protein kinase C activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within adult locomotory behavior IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within cerebellar Purkinje cell layer development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within excitatory postsynaptic potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of dendrite development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of dendrite development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein kinase C signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synapse maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within synapse maturation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical dendrite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in dendritic shaft IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendritic shaft IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendritic spine IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    seizure protein 6
    Names
    brain-specific receptor-like protein C

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001291225.2 → NP_001278154.1  seizure protein 6 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL591065, AL845484
      Consensus CDS
      CCDS70255.1
      UniProtKB/Swiss-Prot
      Q7TSK2
      Related
      ENSMUSP00000000646.8, ENSMUST00000000646.14
      Conserved Domains (4) summary
      cd00033
      Location:707 → 763
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:768 → 827
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:413 → 523
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:529 → 586
      Sushi; Sushi repeat (SCR repeat)

    2. NM_001425404.1 → NP_001412333.1  seizure protein 6 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL591065, AL845484

    3. NM_001425405.1 → NP_001412334.1  seizure protein 6 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL591065, AL845484

    4. NM_001425406.1 → NP_001412335.1  seizure protein 6 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL591065, AL845484

    5. NM_001425407.1 → NP_001412336.1  seizure protein 6 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL591065, AL845484

    6. NM_001425408.1 → NP_001412337.1  seizure protein 6 isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AL591065
      Related
      ENSMUST00000138749.8

    7. NM_001425409.1 → NP_001412338.1  seizure protein 6 isoform 8 precursor

      Status: VALIDATED

      Source sequence(s)
      AL591065

    8. NM_021286.5 → NP_067261.2  seizure protein 6 isoform 1 precursor

      See identical proteins and their annotated locations for NP_067261.2

      Status: VALIDATED

      Source sequence(s)
      AL591065, AL845484
      Consensus CDS
      CCDS25087.1
      UniProtKB/Swiss-Prot
      Q3TT53, Q62223, Q62224, Q62269, Q7TPC9, Q7TSK2
      Related
      ENSMUSP00000091532.4, ENSMUST00000093995.10
      Conserved Domains (4) summary
      cd00033
      Location:707 → 763
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:768 → 827
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:413 → 523
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:529 → 586
      Sushi; Sushi repeat (SCR repeat)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      77821403..77869874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030245723.1 → XP_030101583.1  seizure protein 6 isoform X3

      UniProtKB/TrEMBL
      Q5DTK7
      Conserved Domains (4) summary
      cd00033
      Location:548 → 604
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:548 → 733
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:254 → 364
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:370 → 427
      Sushi; Sushi repeat (SCR repeat)

    2. XM_036156478.1 → XP_036012371.1  seizure protein 6 isoform X3

      UniProtKB/TrEMBL
      Q5DTK7
      Conserved Domains (4) summary
      cd00033
      Location:548 → 604
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:548 → 733
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:254 → 364
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:370 → 427
      Sushi; Sushi repeat (SCR repeat)

    3. XM_006532637.2 → XP_006532700.1  seizure protein 6 isoform X2

      Conserved Domains (5) summary
      cd00033
      Location:707 → 763
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:707 → 892
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:413 → 523
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:529 → 586
      Sushi; Sushi repeat (SCR repeat)
      pfam03154
      Location:42 → 200
      Atrophin-1; Atrophin-1 family

    4. XM_006532639.5 → XP_006532702.1  seizure protein 6 isoform X3

      UniProtKB/TrEMBL
      Q5DTK7
      Conserved Domains (4) summary
      cd00033
      Location:548 → 604
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:548 → 733
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:254 → 364
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:370 → 427
      Sushi; Sushi repeat (SCR repeat)

    5. XM_006532640.4 → XP_006532703.1  seizure protein 6 isoform X4

      See identical proteins and their annotated locations for XP_006532703.1

      UniProtKB/Swiss-Prot
      Q7TSK2
      Conserved Domains (4) summary
      cd00033
      Location:191 → 247
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:191 → 376
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:74 → 183
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:13 → 70
      Sushi; Sushi repeat (SCR repeat)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TSK2.1 GenPept UniProtKB/Swiss-Prot:Q7TSK2

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