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SEZ6 seizure related 6 homolog [ Homo sapiens (human) ]

Gene ID: 124925, updated on 3-Apr-2024

Summary

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Official Symbol
SEZ6provided by HGNC
Official Full Name
seizure related 6 homologprovided by HGNC
Primary source
HGNC:HGNC:15955
See related
Ensembl:ENSG00000063015 MIM:616666; AllianceGenome:HGNC:15955
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BSRPC
Summary
The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]
Expression
Restricted expression toward brain (RPKM 16.6) See more
Orthologs
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Genomic context

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Location:
17q11.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28954905..29006440, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29897666..29949179, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27281923..27333458, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:27228996-27229188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27232864-27233364 Neighboring gene Sharpr-MPRA regulatory region 2481 Neighboring gene dehydrogenase/reductase 13 Neighboring gene PHD finger protein 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11957 Neighboring gene uncharacterized LOC101927018 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27275797-27276417 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27276418-27277037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8362 Neighboring gene uncharacterized LOC105371716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27279039-27279660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27285966-27286466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27286467-27286967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11961 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27295422-27296072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27298966-27299843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27304487-27305060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11962 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27312673-27313313 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27314841-27315342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27318844-27319528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27319529-27320212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27325005-27325504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27330212-27330838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27330839-27331463 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:27332814-27332997 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27346329-27346969 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27346970-27347609 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 7 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:27359363-27360197 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27369638-27370526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27381450-27382004 Neighboring gene pipecolic acid and sarcosine oxidase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H. Paracchini L, et al. Alzheimers Res Ther, 2018 Oct 12. PMID 30309378, Free PMC Article
  2. Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene. Yu ZL, et al. J Neurosci Res, 2007 Jan. PMID 17086543
  3. Localized expression of the seizure-related gene SEZ-6 in developing and adult forebrains. Kim MH, et al. Mech Dev, 2002 Oct. PMID 12351182
  4. Cloning and characterization of seizure-related gene, SEZ-6. Shimizu-Nishikawa K, et al. Biochem Biophys Res Commun, 1995 Nov 2. PMID 7488116
  5. Potential genetic biomarkers predict adverse pregnancy outcome during early and mid-pregnancy in women with systemic lupus erythematosus. Deng Y, et al. Front Endocrinol (Lausanne), 2022. PMID 36465614, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Potential genetic biomarkers predict adverse pregnancy outcome during early and mid-pregnancy in women with systemic lupus erythematosus.
    Title: Potential genetic biomarkers predict adverse pregnancy outcome during early and mid-pregnancy in women with systemic lupus erythematosus.
  2. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
    Title: ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
  3. Study describes a targeted exome sequencing analysis of a large Italian kindred with Alzheimer disease, negative for PSEN and APP variants, that indicated the SEZ6 heterozygous mutation R615H is associated with the pathology.
    Title: Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.
  4. The human SEZ-6 gene is related to the occurrence and development of FS and may be a novel candidate gene for epilepsy. Screening for mutations in SEZ-6 may be valuable in predicting FS recurrence or the development of epilepsy.
    Title: Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in cerebellar Purkinje cell layer development IEA
Inferred from Electronic Annotation
more info
  
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of dendrite development IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
Component Evidence Code Pubs
located_in apical dendrite IEA
Inferred from Electronic Annotation
more info
  
is_active_in dendritic shaft IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
seizure protein 6 homolog

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.

Genomic

  1. NG_051223.1 RefSeqGene

    Range
    5408..56536
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098635.2 → NP_001092105.1  seizure protein 6 homolog isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of the last exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL834405, BC069260, DA123986
    Consensus CDS
    CCDS45638.1
    UniProtKB/TrEMBL
    A0A0A0MSU7
    Related
    ENSP00000353440.9, ENST00000360295.13
    Conserved Domains (6) summary
    cd00033
    Location:710 → 766
    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:771 → 830
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:416 → 526
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:532 → 589
    Sushi; Sushi repeat (SCR repeat)
    pfam02993
    Location:71 → 147
    MCPVI; Minor capsid protein VI
    cl00049
    Location:244 → 352
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

  2. NM_001290202.2 → NP_001277131.1  seizure protein 6 homolog isoform 3

    See identical proteins and their annotated locations for NP_001277131.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate exon in place of the first exon and initiates translation at a downstream start codon compared to variant 1, The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK091522, BC069260
    UniProtKB/TrEMBL
    H0YF95
    Related
    ENSP00000437650.2, ENST00000540632.6
    Conserved Domains (5) summary
    cd00033
    Location:585 → 641
    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:646 → 705
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:291 → 401
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:407 → 464
    Sushi; Sushi repeat (SCR repeat)
    cl00049
    Location:119 → 227
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

  3. NM_178860.5 → NP_849191.3  seizure protein 6 homolog isoform 1 precursor

    See identical proteins and their annotated locations for NP_849191.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK125377, AK223620, BC069260, DA123986
    Consensus CDS
    CCDS45639.1
    UniProtKB/Swiss-Prot
    B6ZDN1, Q53EL9, Q8N701, Q8NB57, Q8ND50, Q8TD25, Q96NI5, Q96NQ3
    UniProtKB/TrEMBL
    A0A0A0MSU7
    Related
    ENSP00000312942.11, ENST00000317338.17
    Conserved Domains (6) summary
    cd00033
    Location:710 → 766
    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:771 → 830
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:416 → 526
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:532 → 589
    Sushi; Sushi repeat (SCR repeat)
    pfam02993
    Location:71 → 147
    MCPVI; Minor capsid protein VI
    cl00049
    Location:244 → 352
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    28954905..29006440 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524315.3 → XP_011522617.1  seizure protein 6 homolog isoform X1

    UniProtKB/TrEMBL
    A0A0A0MSU7
    Conserved Domains (7) summary
    cd00033
    Location:710 → 766
    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:771 → 830
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:416 → 526
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:532 → 589
    Sushi; Sushi repeat (SCR repeat)
    pfam02993
    Location:71 → 147
    MCPVI; Minor capsid protein VI
    pfam03929
    Location:927 → 972
    PepSY_TM; PepSY-associated TM region
    cl00049
    Location:244 → 352
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

  2. XM_011524317.4 → XP_011522619.1  seizure protein 6 homolog isoform X2

    UniProtKB/TrEMBL
    A0A0A0MSU7
    Conserved Domains (6) summary
    cd00033
    Location:710 → 766
    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:771 → 830
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:416 → 526
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:532 → 589
    Sushi; Sushi repeat (SCR repeat)
    pfam02993
    Location:71 → 147
    MCPVI; Minor capsid protein VI
    cl00049
    Location:244 → 352
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    29897666..29949179 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315026.1 → XP_054171001.1  seizure protein 6 homolog isoform X1

  2. XM_054315027.1 → XP_054171002.1  seizure protein 6 homolog isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53EL9.2 GenPept UniProtKB/Swiss-Prot:Q53EL9

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