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    Sez6l seizure related 6 homolog like [ Mus musculus (house mouse) ]

    Gene ID: 56747, updated on 8-May-2024

    Summary

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    Official Symbol
    Sez6lprovided by MGI
    Official Full Name
    seizure related 6 homolog likeprovided by MGI
    Primary source
    MGI:MGI:1935121
    See related
    Ensembl:ENSMUSG00000058153 AllianceGenome:MGI:1935121
    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
    AIG1; Acig1; BSRP-B; mKIAA0927
    Summary
    Acts upstream of or within adult locomotory behavior; nervous system development; and regulation of protein kinase C signaling. Located in endoplasmic reticulum and neuronal cell body. Is expressed in central nervous system; future brain; retina; and testis. Orthologous to human SEZ6L (seizure related 6 homolog like). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in whole brain E14.5 (RPKM 26.2), cortex adult (RPKM 23.6) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 F; 5 54.72 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (112567020..112726401, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (112419151..112578535, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 Neighboring gene predicted gene 20636 Neighboring gene aspartate beta-hydroxylase domain containing 2 Neighboring gene coiled-coil domain containing 121, retrogene 2 Neighboring gene STARR-seq mESC enhancer starr_14007 Neighboring gene RIKEN cDNA 1700034G24 gene Neighboring gene VISTA enhancer mm1731 Neighboring gene predicted gene, 30529

    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
    • 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. The β-Secretase Substrate Seizure 6-Like Protein (SEZ6L) Controls Motor Functions in Mice. Ong-Pålsson E, et al. Mol Neurobiol, 2022 Feb. PMID 34958451, Free PMC Article
    2. Full-length sequence of mouse acupuncture-induced 1-L (aig1l) gene including its transcriptional start site. Ohta M, et al. Evid Based Complement Alternat Med, 2011. PMID 19696195, Free PMC Article
    3. Electroacupuncture suppresses myostatin gene expression: cell proliferative reaction in mouse skeletal muscle. Takaoka Y, et al. Physiol Genomics, 2007 Jul 18. PMID 17341691
    4. Seizure protein 6 and its homolog seizure 6-like protein are physiological substrates of BACE1 in neurons. Pigoni M, et al. Mol Neurodegener, 2016 Oct 5. PMID 27716410, Free PMC Article
    5. Trans-differentiation of outer hair cells into inner hair cells in the absence of INSM1. Wiwatpanit T, et al. Nature, 2018 Nov. PMID 30305733, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The beta-Secretase Substrate Seizure 6-Like Protein (SEZ6L) Controls Motor Functions in Mice.
      Title: The β-Secretase Substrate Seizure 6-Like Protein (SEZ6L) Controls Motor Functions in Mice.
    2. 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.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (4)  1 citation

    General gene information

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    Markers

    Homology

    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 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 
    involved_in regulation of protein kinase C signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of protein kinase C signaling IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    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
    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 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane 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 plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    seizure 6-like protein
    Names
    acupuncture induced gene 1
    acupuncture-induced protein 1-L
    brain-specific receptor-like protein B

    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_001253916.2 → NP_001240845.1  seizure 6-like protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_001240845.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC147377, AC151475
      Consensus CDS
      CCDS57373.1
      UniProtKB/Swiss-Prot
      Q3V651, Q499M3, Q6P1D5, Q6PHN6, Q8C420
      UniProtKB/TrEMBL
      A0A1D5RMJ7
      Related
      ENSMUSP00000078454.8, ENSMUST00000079491.14
      Conserved Domains (4) summary
      cd00033
      Location:685 → 741
      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:746 → 805
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:568 → 676
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:507 → 564
      Sushi; Sushi repeat (SCR repeat)

    2. NM_001253917.2 → NP_001240846.1  seizure 6-like protein isoform 3 precursor

      See identical proteins and their annotated locations for NP_001240846.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon and has an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment and an internal aa in the C-terminal region, compared to isoform 1.
      Source sequence(s)
      AC147377, AC151475
      Consensus CDS
      CCDS80369.1
      UniProtKB/TrEMBL
      A0A0G2JG23, A0A1D5RMJ7
      Related
      ENSMUSP00000143395.2, ENSMUST00000197425.2
      Conserved Domains (4) summary
      cd00033
      Location:685 → 741
      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:746 → 805
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:568 → 676
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:507 → 564
      Sushi; Sushi repeat (SCR repeat)

    3. NM_001403286.1 → NP_001390215.1  seizure 6-like protein isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC147377, AC151475
      UniProtKB/TrEMBL
      A0A1D5RMI4
      Related
      ENSMUSP00000148791.2, ENSMUST00000212480.2

    4. NM_001403287.1 → NP_001390216.1  seizure 6-like protein isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AC147377, AC151475

    5. NM_001403288.1 → NP_001390217.1  seizure 6-like protein isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC147377, AC151475

    6. NM_001403289.1 → NP_001390218.1  seizure 6-like protein isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AC147377, AC151475
      Related
      ENSMUSP00000148806.2, ENSMUST00000212758.2

    7. NM_019982.4 → NP_064366.2  seizure 6-like protein isoform 2 precursor

      See identical proteins and their annotated locations for NP_064366.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splcie site in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal aa, compared to isoform 1.
      Source sequence(s)
      AC147377, AC151475
      Consensus CDS
      CCDS51617.1
      UniProtKB/TrEMBL
      A0A0R4J0Y4, A0A1D5RMJ7
      Related
      ENSMUSP00000074847.7, ENSMUST00000075387.11
      Conserved Domains (4) summary
      cd00033
      Location:685 → 741
      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:746 → 805
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:568 → 676
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:507 → 564
      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_000071.7 Reference GRCm39 C57BL/6J

      Range
      112567020..112726401 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006535155.4 → XP_006535218.1  seizure 6-like protein isoform X2

      UniProtKB/TrEMBL
      A0A1D5RMJ7
      Conserved Domains (5) summary
      cd00033
      Location:685 → 741
      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:333 → 388
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA03247
      Location:2 → 186
      PHA03247; large tegument protein UL36; Provisional
      cd00041
      Location:568 → 676
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:507 → 564
      Sushi; Sushi repeat (SCR repeat)

    2. XM_006535156.4 → XP_006535219.1  seizure 6-like protein isoform X3

      UniProtKB/TrEMBL
      A0A1D5RMJ7
      Conserved Domains (6) summary
      cd00033
      Location:685 → 741
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02639
      Location:685 → 809
      PHA02639; EEV host range protein; Provisional
      smart00032
      Location:333 → 388
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA03247
      Location:2 → 186
      PHA03247; large tegument protein UL36; Provisional
      cd00041
      Location:568 → 676
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:507 → 564
      Sushi; Sushi repeat (SCR repeat)

    3. XM_036165359.1 → XP_036021252.1  seizure 6-like protein isoform X7

      Conserved Domains (4) summary
      smart00032
      Location:333 → 388
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA03247
      Location:2 → 186
      PHA03247; large tegument protein UL36; Provisional
      cd00041
      Location:392 → 501
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:507 → 564
      Sushi; Sushi repeat (SCR repeat)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1D5.1 GenPept UniProtKB/Swiss-Prot:Q6P1D5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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