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SEZ6L seizure related 6 homolog like [ Homo sapiens (human) ]

Gene ID: 23544, updated on 27-Nov-2024

Summary

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Official Symbol
SEZ6Lprovided by HGNC
Official Full Name
seizure related 6 homolog likeprovided by HGNC
Primary source
HGNC:HGNC:10763
See related
Ensembl:ENSG00000100095 MIM:607021; AllianceGenome:HGNC:10763
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SEZ6L1
Summary
Predicted to be involved in regulation of protein kinase C signaling and synapse maturation. Predicted to act upstream of or within adult locomotory behavior and cerebellar Purkinje cell layer development. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in several cellular components, including glutamatergic synapse; neuronal cell body; and postsynaptic membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 35.1) and adrenal (RPKM 5.4) See more
Orthologs
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Genomic context

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See SEZ6L in Genome Data Viewer
Location:
22q12.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26169462..26383596)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (26631737..26845974)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26565428..26779562)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724801 Neighboring gene uncharacterized LOC105372971 Neighboring gene long intergenic non-protein coding RNA 2559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:26566407-26567346 Neighboring gene Sharpr-MPRA regulatory region 5864 Neighboring gene SEZ6L antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26716892-26717858 Neighboring gene uncharacterized LOC124905096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13566 Neighboring gene Sharpr-MPRA regulatory region 1030 Neighboring gene RNA, 5S ribosomal pseudogene 495 Neighboring gene NANOG hESC enhancer GRCh37_chr22:26800879-26801395 Neighboring gene RPS3A pseudogene 55

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. Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line. Nishioka M, et al. Oncogene, 2000 Dec 14. PMID 11175339
  2. A genomic screen for genes upregulated by demethylation and histone deacetylase inhibition in human colorectal cancer. Suzuki H, et al. Nat Genet, 2002 Jun. PMID 11992124
  3. Polymorphisms in seizure 6-like gene are associated with bipolar disorder I: evidence of gene × gender interaction. Xu C, et al. J Affect Disord, 2013 Feb 15. PMID 22920719
  4. Seizure 6-like (SEZ6L) gene and risk for lung cancer. Gorlov IP, et al. Cancer Res, 2007 Sep 1. PMID 17804757
  5. Incorporation of a genetic factor into an epidemiologic model for prediction of individual risk of lung cancer: the Liverpool Lung Project. Raji OY, et al. Cancer Prev Res (Phila), 2010 May. PMID 20424129

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SEZ6L, HISPPD1, FEZF1, SAMD11 gene variants may be associated with autism spectrum disorder.
    Title: Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.
  2. This is the first demonstration that genetic variants in the SEZ6L gene are associated with bipolar disorder Iin female patients and provides additional compelling evidence for genetic variation at 22q11-13 that influences BD-I risk.
    Title: Polymorphisms in seizure 6-like gene are associated with bipolar disorder I: evidence of gene × gender interaction.
  3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  4. the addition of SEZ6L improved the performance of the Liverpool Lung Project risk model.
    Title: Incorporation of a genetic factor into an epidemiologic model for prediction of individual risk of lung cancer: the Liverpool Lung Project.
  5. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Incorporation of a genetic factor into an epidemiologic model for prediction of individual risk of lung cancer: the Liverpool Lung Project.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study.
  8. A role of the SEZ6L Met430Ile polymorphic variant in increasing lung cancer risk.
    Title: Seizure 6-like (SEZ6L) gene and risk for lung cancer.
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

EBI GWAS Catalog

Description
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
EBI GWAS Catalog
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
EBI GWAS Catalog
Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
EBI GWAS Catalog

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 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
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
seizure 6-like protein
Names
seizure related gene 6-like

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_054877.1 RefSeqGene

    Range
    4989..219123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184773.2 → NP_001171702.1  seizure 6-like protein isoform 2 precursor

    See identical proteins and their annotated locations for NP_001171702.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter by 1 aa when it is compared to isoform 1.
    Source sequence(s)
    AB041736, AL022337, AL078460, AY358405
    Consensus CDS
    CCDS54508.1
    UniProtKB/Swiss-Prot
    Q9BYH1
    Related
    ENSP00000384772.3, ENST00000404234.7
    Conserved Domains (4) summary
    cd00033
    Location:745 → 801
    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:806 → 865
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628 → 736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567 → 624
    Sushi; Sushi repeat (SCR repeat)

  2. NM_001184774.2 → NP_001171703.1  seizure 6-like protein isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate, in-frame segment in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AB041736, AL022337, AL078460, AY358405, BC143851
    Consensus CDS
    CCDS54509.1
    UniProtKB/Swiss-Prot
    Q9BYH1
    Related
    ENSP00000485720.1, ENST00000629590.2
    Conserved Domains (4) summary
    cd00033
    Location:745 → 801
    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:806 → 865
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628 → 736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567 → 624
    Sushi; Sushi repeat (SCR repeat)

  3. NM_001184775.2 → NP_001171704.1  seizure 6-like protein isoform 4 precursor

    See identical proteins and their annotated locations for NP_001171704.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate, in-frame segment and uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AB041736, AL022337, AL078460, AY358405, BC143854
    Consensus CDS
    CCDS74837.1
    UniProtKB/TrEMBL
    B7ZLJ8
    Related
    ENSP00000437037.3, ENST00000529632.6
    Conserved Domains (4) summary
    cd00033
    Location:745 → 801
    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:806 → 865
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628 → 736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567 → 624
    Sushi; Sushi repeat (SCR repeat)

  4. NM_001184776.2 → NP_001171705.1  seizure 6-like protein isoform 5 precursor

    See identical proteins and their annotated locations for NP_001171705.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two alternate, in-frame segments in the coding region, compared to variant 1. The resulting protein (isoform 5) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AB023144, AB041736, AL022337, AL078460, AY358405
    Consensus CDS
    CCDS54511.1
    UniProtKB/Swiss-Prot
    Q9BYH1
    Related
    ENSP00000354185.3, ENST00000360929.7
    Conserved Domains (4) summary
    cd00033
    Location:745 → 801
    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:393 → 448
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628 → 736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567 → 624
    Sushi; Sushi repeat (SCR repeat)

  5. NM_001184777.2 → NP_001171706.1  seizure 6-like protein isoform 6 precursor

    See identical proteins and their annotated locations for NP_001171706.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks two alternate, in-frame segments in the coding region, compared to variant 1. The resulting protein (isoform 6) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AL022337, AL023513, AL078460, AY358405
    Consensus CDS
    CCDS54510.1
    UniProtKB/Swiss-Prot
    Q9BYH1
    Related
    ENSP00000342661.4, ENST00000343706.8
    Conserved Domains (4) summary
    cd00033
    Location:745 → 801
    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:806 → 865
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628 → 736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567 → 624
    Sushi; Sushi repeat (SCR repeat)

  6. NM_021115.5 → NP_066938.2  seizure 6-like protein isoform 1 precursor

    See identical proteins and their annotated locations for NP_066938.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
    Source sequence(s)
    AB041736, AL022337, AL078460, AY358405
    Consensus CDS
    CCDS13833.1
    UniProtKB/Swiss-Prot
    A0AUW7, B0QYG4, B0QYG5, B7ZLJ6, G8JLP3, O95917, Q5THY5, Q6IBZ4, Q6UXD4, Q9BYH1, Q9NUI3, Q9NUI4, Q9NUI5, Q9Y2E1, Q9Y3J6
    Related
    ENSP00000248933.6, ENST00000248933.11
    Conserved Domains (4) summary
    cd00033
    Location:745 → 801
    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:806 → 865
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    cd00041
    Location:628 → 736
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:567 → 624
    Sushi; Sushi repeat (SCR repeat)

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    26169462..26383596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    26631737..26845974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYH1.1 GenPept UniProtKB/Swiss-Prot:Q9BYH1

Gene LinkOut

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