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

Gene ID: 124925, updated on 24-Nov-2020

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
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

Genomic context

See SEZ6 in Genome Data Viewer
Location:
17q11.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (28954905..29006440, complement)
105 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 dehydrogenase/reductase 13 Neighboring gene PHD finger protein 12 Neighboring gene uncharacterized LOC101927018 Neighboring gene uncharacterized LOC105371716 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 7 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
cerebellar Purkinje cell layer development IEA
Inferred from Electronic Annotation
more info
 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
regulation of dendrite development IEA
Inferred from Electronic Annotation
more info
 
regulation of protein kinase C signaling IEA
Inferred from Electronic Annotation
more info
 
synapse maturation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical dendrite IEA
Inferred from Electronic Annotation
more info
 
dendritic shaft IEA
Inferred from Electronic Annotation
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q53EL9
    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/Swiss-Prot
    Q53EL9
    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
    Q53EL9
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011524315.2XP_011522617.1  seizure protein 6 homolog isoform X1

    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_011524317.3XP_011522619.1  seizure protein 6 homolog isoform X2

    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.
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