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

    Gene ID: 124925, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See SEZ6 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28954905..29006440, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29897666..29949179, complement)
    RS_2024_09 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. 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
    2. 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
    3. Cloning and characterization of seizure-related gene, SEZ-6. Shimizu-Nishikawa K, et al. Biochem Biophys Res Commun, 1995 Nov 2. PMID 7488116
    4. Localized expression of the seizure-related gene SEZ-6 in developing and adult forebrains. Kim MH, et al. Mech Dev, 2002 Oct. PMID 12351182
    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 (17) 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)

    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_2024_08

    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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