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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

GeneHancer (GH) Regulatory Elements for GSG1L Gene

Promoters and enhancers for GSG1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I027888 Promoter 0.9 EPDnew 550.1 +175.3 175322 0.1 MAZ USF1 USF2 ZIC2 ZFHX2 GLIS2 ZNF512 GLIS1 EGR2 GSG1L RNU6-159P GC16M027998 RNU6-1241P
GH16I028063 Promoter 0.7 EPDnew 550.8 0.0 -9 0.1 MAZ ZBTB26 EZH2 GSG1L GC16P028082
GH16I027312 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5 +740.7 740736 19.6 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF207 IL4R FLJ21408 NSMCE1 GTF3C1 IL21R KIAA0556 GSG1L ENSG00000259940 KDM8 ENSG00000274092
GH16I027577 Enhancer 1.1 Ensembl ENCODE 10.3 +484.5 484476 2.1 FOXA2 ZFP64 ARID4B ZNF48 FOS SP3 SP5 JUNB ZHX2 MXD4 IL21R-AS1 GSG1L KIAA0556 ENSG00000261736
GH16I027625 Enhancer 1 Ensembl ENCODE 10.7 +437.8 437830 2.4 ELF3 FOXA2 FEZF1 ZSCAN9 RARA ETS1 ZNF335 RCOR1 MIXL1 CEBPB IL21R-AS1 GSG1L ENSG00000261736 KIAA0556
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GSG1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GSG1L gene promoter:

Genomic Locations for GSG1L Gene

Genomic Locations for GSG1L Gene
chr16:27,787,529-28,063,509
(GRCh38/hg38)
Size:
275,981 bases
Orientation:
Minus strand
chr16:27,798,850-28,074,830
(GRCh37/hg19)

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

No Post-translational modifications

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

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 UniProtKB STRING

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

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 16 34 33
  • 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 34 33
  • 73.36 (n)
OneToOne
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 Variation AA Info Type
rs1000021486 -- 28,009,599(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000024395 -- 28,012,197(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000080708 -- 28,004,656(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000081209 -- 27,836,907(-) A/G intron_variant
rs1000090547 -- 27,807,106(-) A/G 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)

Additional Variant Information 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

Additional Disease Information for 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 58
  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 58
  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 58
  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 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for GSG1L Gene

Sources for GSG1L Gene

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