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

    Gene ID: 20370, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    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

    Markers

    Clone Names

    • KIAA4158, D11Bhm177e

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001291225.2NP_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:707763
      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:768827
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:413523
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:529586
      Sushi; Sushi repeat (SCR repeat)
    2. NM_001425404.1NP_001412333.1  seizure protein 6 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL591065, AL845484
    3. NM_001425405.1NP_001412334.1  seizure protein 6 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL591065, AL845484
      UniProtKB/TrEMBL
      Q5DTK7
    4. NM_001425406.1NP_001412335.1  seizure protein 6 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL591065, AL845484
      UniProtKB/TrEMBL
      Q5DTK7
    5. NM_001425407.1NP_001412336.1  seizure protein 6 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL591065, AL845484
      UniProtKB/TrEMBL
      Q5DTK7
    6. NM_001425408.1NP_001412337.1  seizure protein 6 isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AL591065
      Related
      ENSMUST00000138749.8
    7. NM_001425409.1NP_001412338.1  seizure protein 6 isoform 8 precursor

      Status: VALIDATED

      Source sequence(s)
      AL591065
    8. NM_021286.5NP_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:707763
      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:768827
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:413523
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:529586
      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_030245723.1XP_030101583.1  seizure protein 6 isoform X3

      UniProtKB/TrEMBL
      Q5DTK7
      Conserved Domains (4) summary
      cd00033
      Location:548604
      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:548733
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:254364
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:370427
      Sushi; Sushi repeat (SCR repeat)
    2. XM_036156478.1XP_036012371.1  seizure protein 6 isoform X3

      UniProtKB/TrEMBL
      Q5DTK7
      Conserved Domains (4) summary
      cd00033
      Location:548604
      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:548733
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:254364
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:370427
      Sushi; Sushi repeat (SCR repeat)
    3. XM_006532637.2XP_006532700.1  seizure protein 6 isoform X2

      Conserved Domains (5) summary
      cd00033
      Location:707763
      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:707892
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:413523
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:529586
      Sushi; Sushi repeat (SCR repeat)
      pfam03154
      Location:42200
      Atrophin-1; Atrophin-1 family
    4. XM_006532639.5XP_006532702.1  seizure protein 6 isoform X3

      UniProtKB/TrEMBL
      Q5DTK7
      Conserved Domains (4) summary
      cd00033
      Location:548604
      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:548733
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:254364
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:370427
      Sushi; Sushi repeat (SCR repeat)
    5. XM_006532640.4XP_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:191247
      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:191376
      PHA02927; secreted complement-binding protein; Provisional
      cd00041
      Location:74183
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:1370
      Sushi; Sushi repeat (SCR repeat)