Aliases for SEL1L3 Gene

Aliases for SEL1L3 Gene

  • SEL1L Family Member 3 2 3 5
  • Suppressor Of Lin-12-Like Protein 3 3 4
  • Protein Sel-1 Homolog 3 3 4
  • KIAA0746 2 4
  • Sel-1L3 3 4
  • Sel-1 Suppressor Of Lin-12-Like 3 (C. Elegans) 2
  • Sel-1 Suppressor Of Lin-12-Like 3 3
  • KIAA0746 Protein 2
  • SEL1L3 5

External Ids for SEL1L3 Gene

Previous GeneCards Identifiers for SEL1L3 Gene

  • GC04M025358
  • GC04M025749
  • GC04M025087
  • GC04M025756
  • GC04M025763
  • GC04M025798
  • GC04M025802
  • GC04M025810
  • GC04M025822
  • GC04M025766
  • GC04M025770
  • GC04M025774
  • GC04M025778
  • GC04M025782
  • GC04M025786
  • GC04M025790
  • GC04M025794

Summaries for SEL1L3 Gene

GeneCards Summary for SEL1L3 Gene

SEL1L3 (SEL1L Family Member 3) is a Protein Coding gene. An important paralog of this gene is SEL1L.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEL1L3 Gene

Genomics for SEL1L3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEL1L3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEL1L3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEL1L3

Genomic Locations for SEL1L3 Gene

Latest Assembly
chr4:25,715,910-25,863,760
(GRCh38/hg38)
Size:
147,851 bases
Orientation:
Minus strand

Previous Assembly
chr4:25,749,055-25,865,188
(GRCh37/hg19 by Entrez Gene)
Size:
116,134 bases
Orientation:
Minus strand

chr4:25,749,055-25,865,382
(GRCh37/hg19 by Ensembl)
Size:
116,328 bases
Orientation:
Minus strand

Genomic View for SEL1L3 Gene

Genes around SEL1L3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEL1L3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEL1L3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEL1L3 Gene

Proteins for SEL1L3 Gene

  • Protein details for SEL1L3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68CR1-SE1L3_HUMAN
    Recommended name:
    Protein sel-1 homolog 3
    Protein Accession:
    Q68CR1
    Secondary Accessions:
    • A0PJH6
    • A8K0X2
    • O94847
    • Q6P999
    • Q96G59

    Protein attributes for SEL1L3 Gene

    Size:
    1132 amino acids
    Molecular mass:
    128567 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH29422.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH60867.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for SEL1L3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEL1L3 Gene

Post-translational modifications for SEL1L3 Gene

  • Glycosylation at Asn201, Asn382, Asn527, and Asn937
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEL1L3 Gene

Domains & Families for SEL1L3 Gene

Gene Families for SEL1L3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SEL1L3 Gene

Suggested Antigen Peptide Sequences for SEL1L3 Gene

GenScript: Design optimal peptide antigens:
  • Suppressor of lin-12-like protein 3 (SE1L3_HUMAN)
genes like me logo Genes that share domains with SEL1L3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SEL1L3 Gene

Function for SEL1L3 Gene

Phenotypes From GWAS Catalog for SEL1L3 Gene

Gene Ontology (GO) - Molecular Function for SEL1L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with SEL1L3: view
genes like me logo Genes that share phenotypes with SEL1L3: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEL1L3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEL1L3 Gene

Localization for SEL1L3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEL1L3 Gene

Membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEL1L3 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
mitochondrion 0
peroxisome 0
cytosol 0
lysosome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SEL1L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SEL1L3: view

Pathways & Interactions for SEL1L3 Gene

PathCards logo

SuperPathways for SEL1L3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SEL1L3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SEL1L3 Gene

Drugs & Compounds for SEL1L3 Gene

No Compound Related Data Available

Transcripts for SEL1L3 Gene

mRNA/cDNA for SEL1L3 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEL1L3

Alternative Splicing Database (ASD) splice patterns (SP) for SEL1L3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - - - - -
SP2: - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 25a · 25b · 25c ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30a · 30b
SP1: - - - -
SP2: - -
SP3:
SP4: - - -
SP5: - - -
SP6: - -
SP7:
SP8:

Relevant External Links for SEL1L3 Gene

GeneLoc Exon Structure for
SEL1L3

Expression for SEL1L3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEL1L3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEL1L3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.3) and Spleen (x4.1).

Protein differential expression in normal tissues from HIPED for SEL1L3 Gene

This gene is overexpressed in Lung (29.5) and Blymphocyte (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEL1L3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEL1L3

SOURCE GeneReport for Unigene cluster for SEL1L3 Gene:

Hs.479384

Evidence on tissue expression from TISSUES for SEL1L3 Gene

  • Nervous system(4.5)
  • Muscle(4.1)
  • Lung(2.9)
  • Intestine(2.9)
genes like me logo Genes that share expression patterns with SEL1L3: view

Primer products for research

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEL1L3 Gene

Orthologs for SEL1L3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEL1L3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEL1L3 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEL1L3 30 31
  • 90.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEL1L3 30 31
  • 90.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sel1l3 30
  • 85.95 (n)
Mouse
(Mus musculus)
Mammalia Sel1l3 30 17 31
  • 85.69 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 81 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia SEL1L3 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SEL1L3 30 31
  • 70.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEL1L3 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sel1l3 30
  • 58.12 (n)
Zebrafish
(Danio rerio)
Actinopterygii CABZ01079870.1 31
  • 32 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Hrd3 31
  • 17 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sel-1 31
  • 20 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRD3 31
  • 12 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5716 31
  • 22 (a)
OneToMany
Species where no ortholog for SEL1L3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for SEL1L3 Gene

ENSEMBL:
Gene Tree for SEL1L3 (if available)
TreeFam:
Gene Tree for SEL1L3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEL1L3: view image

Paralogs for SEL1L3 Gene

Paralogs for SEL1L3 Gene

genes like me logo Genes that share paralogs with SEL1L3: view

Variants for SEL1L3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEL1L3 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs114149293 Benign: not provided 25,790,562(-) T/C
NM_015187.5(SEL1L3):c.1969A>G (p.Thr657Ala)
MISSENSE
rs146336648 Likely Benign: not provided 25,818,281(-) A/T
NM_015187.5(SEL1L3):c.1424-3T>A
INTRON
rs16877591 -. - p.Ile401Valp.Ile554Val
rs16877658 Benign: not provided 25,847,361(-) A/G
NM_015187.5(SEL1L3):c.666T>C (p.Leu222=)
SYNONYMOUS
rs16877661 Benign: not provided. - 25,847,707(-) T/Cp.Gln107Arg
NM_015187.5(SEL1L3):c.320A>G (p.Gln107Arg)
MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEL1L3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SEL1L3 Gene

Variant ID Type Subtype PubMed ID
esv1014224 CNV insertion 17803354
esv3444154 CNV duplication 20981092
esv3893899 CNV loss 25118596
nsv1010437 CNV loss 25217958
nsv1074701 CNV deletion 25765185
nsv1126684 CNV deletion 24896259
nsv1129723 CNV tandem duplication 24896259
nsv477381 CNV novel sequence insertion 20440878
nsv997544 CNV gain 25217958

Variation tolerance for SEL1L3 Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.05; 68.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEL1L3 Gene

Human Gene Mutation Database (HGMD)
SEL1L3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEL1L3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEL1L3 Gene

Disorders for SEL1L3 Gene

Additional Disease Information for SEL1L3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for SEL1L3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SEL1L3 Gene

Publications for SEL1L3 Gene

  1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  2. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. (PMID: 20708005) Chalasani N … Nonalcoholic Steatohepatitis Clinical Research Network (Gastroenterology 2010) 3 41
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3

Products for SEL1L3 Gene

Sources for SEL1L3 Gene