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Aliases for GSG1L Gene

Aliases for GSG1L Gene

  • GSG1 Like 2 3 5
  • GSG1-Like Protein 3 4
  • Germ Cell-Specific Gene 1-Like Protein 3
  • KTSR5831 3
  • PRO19651 3

External Ids for GSG1L Gene

Previous GeneCards Identifiers for GSG1L Gene

  • GC16M027706
  • GC16M025889

Summaries for GSG1L Gene

GeneCards Summary for GSG1L Gene

GSG1L (GSG1 Like) is a Protein Coding gene. An important paralog of this gene is GSG1.

UniProtKB/Swiss-Prot for GSG1L Gene

  • As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating.

Additional gene information for GSG1L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSG1L Gene

Genomics for GSG1L Gene

Regulatory Elements for GSG1L Gene

Enhancers for GSG1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H028148 1.2 FANTOM5 ENCODE dbSUPER 10.3 -86.2 -86158 1 HLF CEBPB ATF2 ZNF629 CEBPA ATF7 PRDM10 ZNF600 XPO6 APOBR ENSG00000200652 RNY1P10 GSG1L SBK1 ENSG00000246465 SULT1A1 GC16P028181 TPRKBP2
GH16H027577 1.2 Ensembl ENCODE 10.3 +484.5 484476 2 FOXA2 ZFP64 ARID4B FOS SP3 SP5 ZHX2 MXD4 JUNB PPARG IL21R-AS1 GSG1L KIAA0556 ENSG00000261736
GH16H027625 1.1 Ensembl ENCODE 10.7 +437.8 437830 2 ELF3 TBP FOXA2 FEZF1 ZSCAN9 RARA RCOR1 MIXL1 CEBPB RFX3 IL21R-AS1 GSG1L ENSG00000261736 KIAA0556
GH16H028092 0.9 FANTOM5 ENCODE 12.1 -29.8 -29849 1 SCRT1 MAZ ZIC2 SREBF1 GATA3 TARDBP SCRT2 GLIS1 CREB1 FOS GSG1L RNY1P10 ENSG00000200652 XPO6 APOBR SBK1 GC16P028082 TPRKBP2
GH16H027797 0.6 dbSUPER 16.8 +263.4 263373 4 SMARCA5 CBX8 HLF ZMYM3 KDM1A ZKSCAN1 GSG1L GC16M027762 GC16P027839
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GSG1L on UCSC Golden Path with GeneCards custom track

Genomic Location for GSG1L Gene

Chromosome:
16
Start:
27,787,529 bp from pter
End:
28,063,509 bp from pter
Size:
275,981 bases
Orientation:
Minus strand

Genomic View for GSG1L Gene

Genes around GSG1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSG1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSG1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSG1L Gene

Proteins for GSG1L Gene

  • Protein details for GSG1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXU4-GSG1L_HUMAN
    Recommended name:
    Germ cell-specific gene 1-like protein
    Protein Accession:
    Q6UXU4
    Secondary Accessions:
    • Q7Z6F8
    • Q8TB81

    Protein attributes for GSG1L Gene

    Size:
    331 amino acids
    Molecular mass:
    36774 Da
    Quaternary structure:
    • Component of the inner core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity).

    Alternative splice isoforms for GSG1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GSG1L Gene

Post-translational modifications for GSG1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GSG1L Gene

Domains & Families for GSG1L Gene

Gene Families for GSG1L Gene

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

Protein Domains for GSG1L Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GSG1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UXU4

UniProtKB/Swiss-Prot:

GSG1L_HUMAN :
  • Belongs to the GSG1 family.
Family:
  • Belongs to the GSG1 family.
genes like me logo Genes that share domains with GSG1L: view

Function for GSG1L Gene

Molecular function for GSG1L Gene

UniProtKB/Swiss-Prot Function:
As a component of the inner core of AMPAR complex, modifies AMPA receptor (AMPAR) gating.

Phenotypes From GWAS Catalog for GSG1L Gene

Gene Ontology (GO) - Molecular Function for GSG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with GSG1L: view

Animal Model Products

CRISPR Products

miRNA for GSG1L Gene

miRTarBase miRNAs that target GSG1L

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GSG1L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GSG1L Gene

Localization for GSG1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSG1L Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse.

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 GSG1L gene
Compartment Confidence
plasma membrane 3
extracellular 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GSG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GSG1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GSG1L Gene

Pathways & Interactions for GSG1L Gene

SuperPathways for GSG1L Gene

No Data Available

Interacting Proteins for GSG1L Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000394954%0d%0a9606.ENSP00000264265%0d%0a
Selected Interacting proteins: Q6UXU4-GSG1L_HUMAN ENSP00000394954 for GSG1L Gene via IID STRING UniProtKB

Gene Ontology (GO) - Biological Process for GSG1L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GSG1L Gene

Drugs & Compounds for GSG1L Gene

No Compound Related Data Available

Transcripts for GSG1L Gene

Unigene Clusters for GSG1L Gene

GSG1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GSG1L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for GSG1L Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - - -
SP2: -
SP3:

Relevant External Links for GSG1L Gene

GeneLoc Exon Structure for
GSG1L
ECgene alternative splicing isoforms for
GSG1L

Expression for GSG1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GSG1L Gene

mRNA differential expression in normal tissues according to GTEx for GSG1L Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x7.0), Brain - Nucleus accumbens (basal ganglia) (x6.2), Brain - Caudate (basal ganglia) (x6.1), and Heart - Atrial Appendage (x4.7).

NURSA nuclear receptor signaling pathways regulating expression of GSG1L Gene:

GSG1L

SOURCE GeneReport for Unigene cluster for GSG1L Gene:

Hs.91910

Evidence on tissue expression from TISSUES for GSG1L Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with GSG1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GSG1L Gene

Orthologs for GSG1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for GSG1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GSG1L 33 34
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia GSG1L 33 34
  • 95.14 (n)
dog
(Canis familiaris)
Mammalia GSG1L 33 34
  • 94.04 (n)
rat
(Rattus norvegicus)
Mammalia Gsg1l 33
  • 89.55 (n)
mouse
(Mus musculus)
Mammalia Gsg1l 33 16 34
  • 88.58 (n)
oppossum
(Monodelphis domestica)
Mammalia GSG1L 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GSG1L 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves GSG1L 33 34
  • 72.89 (n)
lizard
(Anolis carolinensis)
Reptilia GSG1L 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485075 33
  • 65.73 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.26237 33
zebrafish
(Danio rerio)
Actinopterygii gsg1l 33 34
  • 73.36 (n)
Dr.29187 33
Species where no ortholog for GSG1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 GSG1L Gene

ENSEMBL:
Gene Tree for GSG1L (if available)
TreeFam:
Gene Tree for GSG1L (if available)

Paralogs for GSG1L Gene

Paralogs for GSG1L Gene

(1) SIMAP similar genes for GSG1L Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GSG1L: view

Variants for GSG1L Gene

Sequence variations from dbSNP and Humsavar for GSG1L Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000021486 -- 28,009,599(+) TGTGT(C/T)ATTAC intron-variant
rs1000024395 -- 28,012,197(+) GGCAG(C/T)CACCC intron-variant
rs1000080708 -- 28,004,656(+) GCCTG(C/T)AATCC intron-variant
rs1000081209 -- 27,836,907(+) TTTGG(A/G)GTATG intron-variant
rs1000090547 -- 27,807,106(+) TGCCA(A/G)GAGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GSG1L Gene

Variant ID Type Subtype PubMed ID
esv1010296 CNV insertion 20482838
esv1056305 CNV insertion 17803354
esv1190124 CNV deletion 17803354
esv2411228 CNV deletion 18987734
esv2422531 CNV loss 19546169
esv2511649 CNV deletion 19546169
esv2674766 CNV deletion 23128226
esv2676143 CNV deletion 23128226
esv2714161 CNV deletion 23290073
esv2714162 CNV deletion 23290073
esv2714164 CNV deletion 23290073
esv2714165 CNV deletion 23290073
esv2714166 CNV deletion 23290073
esv2714167 CNV deletion 23290073
esv2714168 CNV deletion 23290073
esv2714169 CNV deletion 23290073
esv27817 CNV loss 19812545
esv28504 CNV loss 19812545
esv3310237 CNV mobile element insertion 20981092
esv3360837 CNV duplication 20981092
esv3384944 OTHER inversion 20981092
esv3412788 CNV insertion 20981092
esv3553292 CNV deletion 23714750
esv3638329 CNV loss 21293372
esv7177 OTHER inversion 19470904
nsv103057 CNV deletion 16902084
nsv103097 CNV deletion 16902084
nsv103125 CNV deletion 16902084
nsv103176 CNV insertion 16902084
nsv1071281 CNV deletion 25765185
nsv1077771 OTHER inversion 25765185
nsv1112289 CNV deletion 24896259
nsv1112689 CNV deletion 24896259
nsv1123027 CNV deletion 24896259
nsv1125308 OTHER inversion 24896259
nsv1131111 CNV deletion 24896259
nsv1133056 OTHER inversion 24896259
nsv1133057 OTHER inversion 24896259
nsv1138422 CNV deletion 24896259
nsv1139650 CNV duplication 24896259
nsv474867 CNV novel sequence insertion 20440878
nsv952960 CNV deletion 24416366

Variation tolerance for GSG1L Gene

Residual Variation Intolerance Score: 30.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GSG1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSG1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSG1L Gene

Disorders for GSG1L Gene

Relevant External Links for GSG1L

Genetic Association Database (GAD)
GSG1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSG1L

No disorders were found for GSG1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GSG1L Gene

Publications for GSG1L Gene

  1. GSG1L suppresses AMPA receptor-mediated synaptic transmission and uniquely modulates AMPA receptor kinetics in hippocampal neurons. (PMID: 26932439) Gu X … Lu W (Nature communications 2016) 2 3 60
  2. Differences in AMPA and kainate receptor interactomes facilitate identification of AMPA receptor auxiliary subunit GSG1L. (PMID: 22813734) Shanks NF … Nakagawa T (Cell reports 2012) 2 3 60
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60
  4. Genome-Wide Pharmacogenomic Study on Methadone Maintenance Treatment Identifies SNP rs17180299 and Multiple Haplotypes on CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of Methadone R- and S-enantiomers in Heroin-Dependent Patients. (PMID: 27010727) Yang HC … Liu YL (PLoS genetics 2016) 3 60
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60

Products for GSG1L Gene

Sources for GSG1L Gene

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