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

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 excitatory postsynaptic potential; nervous system development; and regulation of dendrite 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; liver; retina; and thymus. Orthologous to human SEZ6 (seizure related 6 homolog). [provided by Alliance of Genome Resources, Apr 2022]
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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Gene trapped (1)
Targeted (2) 1 citation
Endonuclease-mediated (3)

General gene information

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Markers

Sez6 (e-PCR), detects polymorphism
- UniSTS:265480

D11Bhm153 (e-PCR), detects polymorphism
- UniSTS:141590

D11Bhm43 (e-PCR), detects polymorphism
- UniSTS:141646

D11Bhm44 (e-PCR), detects polymorphism
- UniSTS:141647

D29763 (e-PCR)
- UniSTS:124821

D11Bhm1 (e-PCR), detects polymorphism
- UniSTS:141532

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
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
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
located_in apical dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
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
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 perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	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)

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

Status: VALIDATED

Source sequence(s)

AL591065, AL845484
NM_001425405.1 → NP_001412334.1 seizure protein 6 isoform 4

Status: VALIDATED

Source sequence(s)

AL591065, AL845484
NM_001425406.1 → NP_001412335.1 seizure protein 6 isoform 5

Status: VALIDATED

Source sequence(s)

AL591065, AL845484
NM_001425407.1 → NP_001412336.1 seizure protein 6 isoform 6

Status: VALIDATED

Source sequence(s)

AL591065, AL845484
NM_001425408.1 → NP_001412337.1 seizure protein 6 isoform 7 precursor

Status: VALIDATED

Source sequence(s)

AL591065
NM_001425409.1 → NP_001412338.1 seizure protein 6 isoform 8 precursor

Status: VALIDATED

Source sequence(s)

AL591065
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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

77821403..77869874

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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
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)
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)