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

    Gene ID: 124925, updated on 10-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001098635.2NP_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:710766
      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:771830
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:416526
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:532589
      Sushi; Sushi repeat (SCR repeat)
      pfam02993
      Location:71147
      MCPVI; Minor capsid protein VI
      cl00049
      Location:244352
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    2. NM_001290202.2NP_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:585641
      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:646705
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:291401
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:407464
      Sushi; Sushi repeat (SCR repeat)
      cl00049
      Location:119227
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    3. NM_178860.5NP_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:710766
      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:771830
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:416526
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:532589
      Sushi; Sushi repeat (SCR repeat)
      pfam02993
      Location:71147
      MCPVI; Minor capsid protein VI
      cl00049
      Location:244352
      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_011524315.3XP_011522617.1  seizure protein 6 homolog isoform X1

      UniProtKB/TrEMBL
      A0A0A0MSU7
      Conserved Domains (7) summary
      cd00033
      Location:710766
      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:771830
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:416526
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:532589
      Sushi; Sushi repeat (SCR repeat)
      pfam02993
      Location:71147
      MCPVI; Minor capsid protein VI
      pfam03929
      Location:927972
      PepSY_TM; PepSY-associated TM region
      cl00049
      Location:244352
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    2. XM_011524317.4XP_011522619.1  seizure protein 6 homolog isoform X2

      UniProtKB/TrEMBL
      A0A0A0MSU7
      Conserved Domains (6) summary
      cd00033
      Location:710766
      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:771830
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      cd00041
      Location:416526
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:532589
      Sushi; Sushi repeat (SCR repeat)
      pfam02993
      Location:71147
      MCPVI; Minor capsid protein VI
      cl00049
      Location:244352
      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_054315026.1XP_054171001.1  seizure protein 6 homolog isoform X1

      UniProtKB/TrEMBL
      A0A0A0MSU7
    2. XM_054315027.1XP_054171002.1  seizure protein 6 homolog isoform X2

      UniProtKB/TrEMBL
      A0A0A0MSU7