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

    Gene ID: 23544, updated on 2-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
    mouse all
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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 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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    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 Variation Viewer (GRCh37.p13)

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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