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Aliases for GSG1 Gene

Aliases for GSG1 Gene

  • Germ Cell Associated 1 2 3 5

External Ids for GSG1 Gene

Previous GeneCards Identifiers for GSG1 Gene

  • GC12M012968
  • GC12M013381
  • GC12M013136
  • GC12M013127
  • GC12M013237
  • GC12M013007

Summaries for GSG1 Gene

GeneCards Summary for GSG1 Gene

GSG1 (Germ Cell Associated 1) is a Protein Coding gene. GO annotations related to this gene include RNA polymerase binding. An important paralog of this gene is GSG1L.

UniProtKB/Swiss-Prot for GSG1 Gene

  • May cause the redistribution of PAPOLB from the cytosol to the endoplasmic reticulum.

Additional gene information for GSG1 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 GSG1 Gene

Genomics for GSG1 Gene

Regulatory Elements for GSG1 Gene

Enhancers for GSG1 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
GH12H013193 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -99.4 -99373 19 TBP PKNOX1 NFIB KLF17 SIN3A FEZF1 BATF RAD21 RFX5 YY1 HTR7P1 MIR614 GSG1 DDX47 GPRC5D-AS1 ENSG00000255621 HEBP1 ENSG00000221611 LOH12CR2 ENSG00000256011
GH12H013171 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -70.2 -70161 5 PKNOX1 KLF17 BMI1 BATF YY1 FOS ETV6 RUNX3 IKZF2 CBFB EMP1 GSG1 GC12M013185 GC12P013156
GH12H013163 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -62.1 -62094 4 GTF2F1 JUN MAX BRCA1 YY1 TCF12 POLR2A FOSL2 FOS ZBTB20 EMP1 ENSG00000255621 GSG1 HEBP1 HTR7P1 FAM234B GC12P013156 GC12M013185
GH12H013177 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -75.3 -75311 2 KLF1 NFIB INSM2 KLF17 MAX NR2F2 GLIS2 ZBTB48 POLR2A GLIS1 GSG1 MIR614 EMP1 GC12M013185 GC12P013156
GH12H013221 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -119.3 -119307 3 FOXA2 NFIB SIN3A DNMT3B ZNF155 RCOR1 FOS EGR2 CEBPB ZNF217 DDX47 MIR614 ENSG00000256011 GSG1 HEBP1 GC12P013222 GC12M013223
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GSG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GSG1 Gene

Chromosome:
12
Start:
13,083,537 bp from pter
End:
13,103,720 bp from pter
Size:
20,184 bases
Orientation:
Minus strand

Genomic View for GSG1 Gene

Genes around GSG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSG1 Gene

Proteins for GSG1 Gene

  • Protein details for GSG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2KHT4-GSG1_HUMAN
    Recommended name:
    Germ cell-specific gene 1 protein
    Protein Accession:
    Q2KHT4
    Secondary Accessions:
    • Q8N4M3
    • Q8NBR4
    • Q8NBS0
    • Q8NBT1
    • Q96LP9
    • Q96SI6
    • Q9BUY4

    Protein attributes for GSG1 Gene

    Size:
    349 amino acids
    Molecular mass:
    39248 Da
    Quaternary structure:
    • Interacts with PAPOLB.
    SequenceCaution:
    • Sequence=AAH01796.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH33854.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GSG1 Gene

neXtProt entry for GSG1 Gene

Post-translational modifications for GSG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GSG1 Gene

Domains & Families for GSG1 Gene

Gene Families for GSG1 Gene

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

Protein Domains for GSG1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GSG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q2KHT4

UniProtKB/Swiss-Prot:

GSG1_HUMAN :
  • Belongs to the GSG1 family.
Family:
  • Belongs to the GSG1 family.
genes like me logo Genes that share domains with GSG1: view

Function for GSG1 Gene

Molecular function for GSG1 Gene

UniProtKB/Swiss-Prot Function:
May cause the redistribution of PAPOLB from the cytosol to the endoplasmic reticulum.

Gene Ontology (GO) - Molecular Function for GSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0070063 RNA polymerase binding IEA --
genes like me logo Genes that share ontologies with GSG1: view
genes like me logo Genes that share phenotypes with GSG1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GSG1

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for GSG1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GSG1 Gene

Localization for GSG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSG1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Colocalizes with PAPOLB in the endoplasmic reticulum. {ECO:0000250}.

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 GSG1 gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 3
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for GSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GSG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GSG1 Gene

Pathways & Interactions for GSG1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GSG1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GSG1 Gene

Drugs & Compounds for GSG1 Gene

No Compound Related Data Available

Transcripts for GSG1 Gene

Unigene Clusters for GSG1 Gene

Germ cell associated 1:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for GSG1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for GSG1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d
SP1: - - - - - -
SP2: - -
SP3: - -
SP4: - - - - -
SP5: - - - - - - - -
SP6: - - - - - - -
SP7: - - -
SP8: - - - - - -
SP9: - - - - - -
SP10: - - -
SP11: - - - - - - -
SP12:
SP13:

Relevant External Links for GSG1 Gene

GeneLoc Exon Structure for
GSG1
ECgene alternative splicing isoforms for
GSG1

Expression for GSG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GSG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GSG1 Gene

This gene is overexpressed in Testis (x50.2).

Protein differential expression in normal tissues from HIPED for GSG1 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GSG1 Gene



Protein tissue co-expression partners for GSG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GSG1 Gene:

GSG1

SOURCE GeneReport for Unigene cluster for GSG1 Gene:

Hs.240053

Evidence on tissue expression from TISSUES for GSG1 Gene

  • Eye(4.7)
  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with GSG1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GSG1 Gene

Orthologs for GSG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GSG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GSG1 33 34
  • 98.9 (n)
dog
(Canis familiaris)
Mammalia GSG1 33 34
  • 85.64 (n)
cow
(Bos Taurus)
Mammalia GSG1 33 34
  • 82.71 (n)
mouse
(Mus musculus)
Mammalia Gsg1 16 34 33
  • 81.73 (n)
rat
(Rattus norvegicus)
Mammalia Gsg1 33
  • 81.21 (n)
oppossum
(Monodelphis domestica)
Mammalia GSG1 34
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GSG1 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves GSG1 33 34
  • 69.85 (n)
lizard
(Anolis carolinensis)
Reptilia GSG1 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490751 33
  • 63.64 (n)
zebrafish
(Danio rerio)
Actinopterygii GSG1 34
  • 21 (a)
OneToOne
Species where no ortholog for GSG1 was found in the sources mined by GeneCards:
  • 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 GSG1 Gene

ENSEMBL:
Gene Tree for GSG1 (if available)
TreeFam:
Gene Tree for GSG1 (if available)

Paralogs for GSG1 Gene

Paralogs for GSG1 Gene

(1) SIMAP similar genes for GSG1 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with GSG1: view

Variants for GSG1 Gene

Sequence variations from dbSNP and Humsavar for GSG1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000063842 -- 13,085,984(+) ACATT(C/G)CTGAA intron-variant
rs1000869738 -- 13,105,310(+) TCTAG(A/G)GATAA upstream-variant-2KB
rs1001014209 -- 13,098,521(+) GACTC(A/C)GTAGA intron-variant
rs1001142420 -- 13,102,045(+) CAGCA(C/G)ACACC intron-variant, nc-transcript-variant
rs1001225470 -- 13,083,929(+) CAGTC(-/T)ATCAC intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GSG1 Gene

Variant ID Type Subtype PubMed ID
esv2745567 CNV deletion 23290073
nsv832333 CNV gain 17160897

Variation tolerance for GSG1 Gene

Residual Variation Intolerance Score: 82.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GSG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSG1 Gene

Disorders for GSG1 Gene

Relevant External Links for GSG1

Genetic Association Database (GAD)
GSG1
Human Genome Epidemiology (HuGE) Navigator
GSG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSG1

No disorders were found for GSG1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GSG1 Gene

Publications for GSG1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 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. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for GSG1 Gene

Sources for GSG1 Gene

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