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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.

No data available for Entrez Gene 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
GH12F013133 1.1 Ensembl ENCODE 13 -31.8 -31817 3.3 ATF1 PKNOX1 ARNT SIN3A ZNF766 GATA2 FOS NCOA1 SMARCA4 PBX2 EMP1 GSG1 MIR614 ENSG00000255621 HEBP1 HTR7P1 GC12P013134 GC12P013138
GH12F013127 0.7 ENCODE 11.9 -24.9 -24898 1.8 PKNOX1 FOXA3 CUX1 FOXA1 EMP1 GSG1 MIR614 ENSG00000255621 HEBP1 HTR7P1 GC12M013129 GC12P013128 PIR54575
GH12F013153 0.5 Ensembl 11.9 -50.5 -50487 2.0 ZFHX2 MAFK NFE2L2 EGR2 EMP1 GSG1 GC12P013156 GC12M013185
GH12F013163 1.3 FANTOM5 Ensembl ENCODE 11.9 -62.1 -62094 4.8 GTF2F1 ZNF680 USF1 JUN BHLHE40 MAX USF2 BRCA1 RAD51 ZNF692 EMP1 ENSG00000255621 GSG1 HEBP1 HTR7P1 FAM234B GC12P013156 GC12M013185
GH12F013130 0.6 Ensembl 11.8 -27.2 -27181 0.2 GSG1 EMP1 GC12M013129 GC12P013128 PIR54575
- Elite enhancer/Elite enhancer-gene association Download Table
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

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

No data available for Gene Families for GSG1 Gene

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

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for GSG1 Gene COMPARTMENTS Subcellular localization image for GSG1 gene
Compartment Confidence
endoplasmic reticulum 3
plasma membrane 3
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for GSG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Pathways & Interactions for GSG1 Gene

SuperPathways for GSG1 Gene

No Data Available

Interacting Proteins for GSG1 Gene

Gene Ontology (GO) - Biological Process for GSG1 Gene

None

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

Transcripts for GSG1 Gene

Unigene Clusters for GSG1 Gene

Germ cell associated 1:
Representative Sequences:

Clone Products

Flow Cytometry Products

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 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 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
genes like me logo Genes that share expression patterns with GSG1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 98.9 (n)
dog
(Canis familiaris)
Mammalia GSG1 34 35
  • 85.64 (n)
cow
(Bos Taurus)
Mammalia GSG1 34 35
  • 82.71 (n)
mouse
(Mus musculus)
Mammalia Gsg1 34 16 35
  • 81.73 (n)
rat
(Rattus norvegicus)
Mammalia Gsg1 34
  • 81.21 (n)
oppossum
(Monodelphis domestica)
Mammalia GSG1 35
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GSG1 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves GSG1 34 35
  • 69.85 (n)
lizard
(Anolis carolinensis)
Reptilia GSG1 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490751 34
  • 63.64 (n)
zebrafish
(Danio rerio)
Actinopterygii GSG1 35
  • 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
rs10772619 -- 13,096,460(+) CAGAG(C/T)GAGAC intron-variant, upstream-variant-2KB
rs10772620 -- 13,103,419(+) TAAAG(A/G)TATGT intron-variant, nc-transcript-variant
rs11055232 -- 13,089,884(+) TGTCT(C/G)TCTAA intron-variant
rs11055233 -- 13,091,028(+) AGGGC(A/G)TAAGA intron-variant
rs11055237 -- 13,098,494(+) TTTTG(G/T)GCGGC intron-variant

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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for GSG1 Gene

Sources for GSG1 Gene

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