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Aliases for SEZ6L Gene

Aliases for SEZ6L Gene

  • Seizure Related 6 Homolog Like 2 3
  • Seizure Related 6 Homolog (Mouse)-Like 5
  • Seizure Related Gene 6 (Mouse)-Like 2
  • KIAA0927 4

External Ids for SEZ6L Gene

Previous GeneCards Identifiers for SEZ6L Gene

  • GC22P023261
  • GC22P023384
  • GC22P024890
  • GC22P024889
  • GC22P026565
  • GC22P009512

Summaries for SEZ6L Gene

GeneCards Summary for SEZ6L Gene

SEZ6L (Seizure Related 6 Homolog Like) is a Protein Coding gene. An important paralog of this gene is CSMD3.

UniProtKB/Swiss-Prot for SEZ6L Gene

  • May contribute to specialized endoplasmic reticulum functions in neurons.

Gene Wiki entry for SEZ6L Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEZ6L Gene

Genomics for SEZ6L Gene

Regulatory Elements for SEZ6L Gene

Promoters for SEZ6L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SEZ6L on UCSC Golden Path with GeneCards custom track

Genomic Location for SEZ6L Gene

Chromosome:
22
Start:
26,169,474 bp from pter
End:
26,383,597 bp from pter
Size:
214,124 bases
Orientation:
Plus strand

Genomic View for SEZ6L Gene

Genes around SEZ6L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEZ6L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEZ6L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEZ6L Gene

Proteins for SEZ6L Gene

  • Protein details for SEZ6L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYH1-SE6L1_HUMAN
    Recommended name:
    Seizure 6-like protein
    Protein Accession:
    Q9BYH1
    Secondary Accessions:
    • A0AUW7
    • B0QYG4
    • B0QYG5
    • B7ZLJ6
    • G8JLP3
    • O95917
    • Q5THY5
    • Q6IBZ4
    • Q6UXD4
    • Q9NUI3
    • Q9NUI4
    • Q9NUI5
    • Q9Y2E1
    • Q9Y3J6

    Protein attributes for SEZ6L Gene

    Size:
    1024 amino acids
    Molecular mass:
    111782 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76771.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEZ6L Gene

    Alternative splice isoforms for SEZ6L Gene

neXtProt entry for SEZ6L Gene

Proteomics data for SEZ6L Gene at MOPED

Post-translational modifications for SEZ6L Gene

  • O-glycosylated.
  • Glycosylation at Ser 49, Asn 311, Asn 328, Asn 350, Asn 435, Asn 458, Asn 474, Asn 514, Asn 576, Asn 618, Asn 674, and Asn 742
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SEZ6L Gene

Domains & Families for SEZ6L Gene

Gene Families for SEZ6L Gene

Protein Domains for SEZ6L Gene

Graphical View of Domain Structure for InterPro Entry

Q9BYH1

UniProtKB/Swiss-Prot:

SE6L1_HUMAN :
  • Contains 3 CUB domains.
  • Belongs to the SEZ6 family.
Domain:
  • Contains 3 CUB domains.
  • Contains 5 Sushi (CCP/SCR) domains.
Family:
  • Belongs to the SEZ6 family.
genes like me logo Genes that share domains with SEZ6L: view

Function for SEZ6L Gene

Molecular function for SEZ6L Gene

GENATLAS Biochemistry:
seizure related gene 6 (mouse)-like
UniProtKB/Swiss-Prot Function:
May contribute to specialized endoplasmic reticulum functions in neurons.
genes like me logo Genes that share phenotypes with SEZ6L: view

Animal Models for SEZ6L Gene

MGI Knock Outs for SEZ6L:

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEZ6L Gene

Localization for SEZ6L Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEZ6L Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEZ6L Gene COMPARTMENTS Subcellular localization image for SEZ6L gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for SEZ6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with SEZ6L: view

Pathways & Interactions for SEZ6L Gene

SuperPathways for SEZ6L Gene

No Data Available

Interacting Proteins for SEZ6L Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000248933%0d%0a9606.ENSP00000352516%0d%0a
Selected Interacting proteins: ENSP00000248933 for SEZ6L Gene via STRING

Symbol External ID(s) Details
DNMT1

Gene Ontology (GO) - Biological Process for SEZ6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021680 cerebellar Purkinje cell layer development IEA --
GO:0090036 regulation of protein kinase C signaling IEA --
genes like me logo Genes that share ontologies with SEZ6L: view

No data available for Pathways by source and SIGNOR curated interactions for SEZ6L Gene

Drugs & Compounds for SEZ6L Gene

No Compound Related Data Available

Transcripts for SEZ6L Gene

Unigene Clusters for SEZ6L Gene

Seizure related 6 homolog (mouse)-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SEZ6L Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - -
SP8: -
SP9:
SP10:

ExUns: 18a · 18b · 18c · 18d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SEZ6L Gene

GeneLoc Exon Structure for
SEZ6L
ECgene alternative splicing isoforms for
SEZ6L

Expression for SEZ6L Gene

mRNA expression in normal human tissues for SEZ6L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEZ6L Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.8), Brain - Hippocampus (x6.4), Brain - Hypothalamus (x6.3), Brain - Frontal Cortex (BA9) (x6.2), Brain - Cerebellar Hemisphere (x4.6), Brain - Cortex (x4.6), and Brain - Amygdala (x4.2).

Protein differential expression in normal tissues from HIPED for SEZ6L Gene

This gene is overexpressed in Cerebrospinal fluid (52.1) and Vitreous humor (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SEZ6L Gene



SOURCE GeneReport for Unigene cluster for SEZ6L Gene Hs.194766

mRNA Expression by UniProt/SwissProt for SEZ6L Gene

Q9BYH1-SE6L1_HUMAN
Tissue specificity: Widely expressed, including adult and fetal brains and lungs. Not expressed in all lung cancer cell lines.
genes like me logo Genes that share expression patterns with SEZ6L: view

Protein tissue co-expression partners for SEZ6L Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for SEZ6L Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEZ6L Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEZ6L 35
  • 86.06 (n)
  • 87.4 (a)
SEZ6L 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEZ6L 35
  • 88.19 (n)
  • 91.92 (a)
SEZ6L 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sez6l 35
  • 81.5 (n)
  • 85.03 (a)
Sez6l 16
Sez6l 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEZ6L 35
  • 94.9 (n)
  • 93.67 (a)
SEZ6L 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sez6l 35
  • 81.76 (n)
  • 85.54 (a)
oppossum
(Monodelphis domestica)
Mammalia SEZ6L 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 29 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SEZ6L 35
  • 77.53 (n)
  • 80.53 (a)
SEZ6L 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 26 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sez6l 35
  • 69.33 (n)
  • 75.33 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100331987 35
  • 68.28 (n)
  • 70.56 (a)
sez6l 36
  • 58 (a)
OneToOne
Species with no ortholog for SEZ6L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SEZ6L Gene

ENSEMBL:
Gene Tree for SEZ6L (if available)
TreeFam:
Gene Tree for SEZ6L (if available)

Paralogs for SEZ6L Gene

Paralogs for SEZ6L Gene

(3) SIMAP similar genes for SEZ6L Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SEZ6L: view

Variants for SEZ6L Gene

Sequence variations from dbSNP and Humsavar for SEZ6L Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs663048 - 26,299,111(+) AAGAT(G/T)CTGAC reference, missense
rs137203 - 26,292,865(+) CCTTT(G/T)GCTGG reference, missense
rs6004989 - 26,292,466(+) AGCCC(C/T)GGAGA reference, missense
rs586542 - 26,313,900(+) ATCCA(C/G)TTGTG reference, missense
rs25593 -- 26,298,190(+) AAAAG(-/CAA)CAACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEZ6L Gene

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
nsv834165 CNV Gain+Loss 17160897
nsv469709 CNV Loss 16826518
nsv3582 CNV Insertion 18451855
nsv3583 CNV Loss 18451855
nsv829136 CNV Loss 20364138
esv1931124 CNV Deletion 18987734
nsv829137 CNV Loss 20364138

Variation tolerance for SEZ6L Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.78; 79.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEZ6L Gene

HapMap Linkage Disequilibrium report
SEZ6L
Human Gene Mutation Database (HGMD)
SEZ6L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEZ6L Gene

Disorders for SEZ6L Gene

Relevant External Links for SEZ6L

Genetic Association Database (GAD)
SEZ6L
Human Genome Epidemiology (HuGE) Navigator
SEZ6L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEZ6L

No disorders were found for SEZ6L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SEZ6L Gene

Publications for SEZ6L Gene

  1. Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line. (PMID: 11175339) Nishioka M. … Yokota J. (Oncogene 2000) 3 4 23 67
  2. Seizure 6-like (SEZ6L) gene and risk for lung cancer. (PMID: 17804757) Gorlov I.P. … Amos C.I. (Cancer Res. 2007) 3 23
  3. Polymorphisms in seizure 6-like gene are associated with bipolar disorder I: evidence of gene A9 gender interaction. (PMID: 22920719) Xu C. … Wang K.S. (J Affect Disord 2013) 3
  4. Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. (PMID: 22837378) Wilk J.B. … Stricker B.H. (Am. J. Respir. Crit. Care Med. 2012) 3
  5. Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study. (PMID: 21901158) Irvin M.R. … Arnett D.K. (PLoS ONE 2011) 3

Products for SEZ6L Gene

Sources for SEZ6L Gene

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