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Aliases for SEZ6L Gene

Aliases for SEZ6L Gene

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

External Ids for SEZ6L Gene

Summaries for SEZ6L Gene

GeneCards Summary for SEZ6L Gene

SEZ6L (Seizure Related 6 Homolog (Mouse)-Like) is a Protein Coding gene. An important paralog of this gene is SEZ6.

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

Genomic Location for SEZ6L Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SEZ6L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEZ6L Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Ser49, Asn311, Asn328, Asn350, Asn435, Asn458, Asn474, Asn514, Asn576, Asn618, Asn674, and Asn742

No data available for DME Specific Peptides for SEZ6L Gene

Domains for SEZ6L Gene

Protein Domains for SEZ6L Gene

Graphical View of Domain Structure for InterPro Entry

Q9BYH1

UniProtKB/Swiss-Prot:

SE6L1_HUMAN
Domain:
  • Contains 3 CUB domains.:
    • Q9BYH1
  • Contains 5 Sushi (CCP/SCR) domains.:
    • Q9BYH1
Family:
  • Belongs to the SEZ6 family.:
    • Q9BYH1
genes like me logo Genes that share domains with SEZ6L: view

No data available for Gene Families for SEZ6L Gene

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.

Phenotypes for SEZ6L Gene

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

Animal Models for SEZ6L Gene

MGI Knock Outs for SEZ6L:

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targeting 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 5
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for SEZ6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
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 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:0008344 adult locomotory behavior IEA --
GO:0021680 cerebellar Purkinje cell layer development IEA --
GO:0060074 synapse maturation 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 for SEZ6L Gene

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) (6.8), Brain - Hippocampus (6.4), Brain - Hypothalamus (6.3), Brain - Frontal Cortex (BA9) (6.2), Brain - Cerebellar Hemisphere (4.6), Brain - Cortex (4.6), and Brain - Amygdala (4.2).

Integrated Proteomics: protein expression 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 expressions with SEZ6L: view

Orthologs for SEZ6L Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEZ6L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEZ6L 35
  • 94.9 (n)
  • 93.67 (a)
SEZ6L 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia SEZ6L 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 29 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Sez6l 35
  • 81.76 (n)
  • 85.54 (a)
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

Selected 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 MAF
rs25593 -- 26,298,190(+) AAAAG(-/CAA)CAACA intron-variant
rs79359 -- 26,202,130(+) AGGAT(A/G)GTCTT intron-variant
rs79360 -- 26,203,327(+) TTTTG(C/T)TCTCT intron-variant
rs134755 -- 26,169,190(+) CCTGG(C/T)CTGGC upstream-variant-2KB
rs134756 -- 26,170,719(+) CACCT(A/G)GGAGA 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

Relevant External Links for SEZ6L Gene

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with SEZ6L: view

No data available for UniProtKB/Swiss-Prot 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
  2. Seizure 6-like (SEZ6L) gene and risk for lung cancer. (PMID: 17804757) Gorlov I.P. … Amos C.I. (Cancer Res. 2007) 3 23 48
  3. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 3 4
  4. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4
  5. A genomic screen for genes upregulated by demethylation and histone deacetylase inhibition in human colorectal cancer. (PMID: 11992124) Suzuki H. … Baylin S.B. (Nat. Genet. 2002) 3 4

Products for SEZ6L Gene

Sources for SEZ6L Gene

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