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

Gene ID: 56747, updated on 11-Apr-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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See Sez6l in Genome Data Viewer
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)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (3) 

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

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