Aliases for GTSF1 Gene

Aliases for GTSF1 Gene

  • Gametocyte Specific Factor 1 2 3 5
  • Family With Sequence Similarity 112, Member B 2 3
  • Gametocyte-Specific Factor 1 3 4
  • FAM112B 3 4
  • Cue110 2 3
  • Protein FAM112B 4
  • FLJ32942 2
  • GTSF1 5

External Ids for GTSF1 Gene

Previous HGNC Symbols for GTSF1 Gene

  • FAM112B

Previous GeneCards Identifiers for GTSF1 Gene

  • GC12M053138
  • GC12M054849
  • GC12M051888

Summaries for GTSF1 Gene

GeneCards Summary for GTSF1 Gene

GTSF1 (Gametocyte Specific Factor 1) is a Protein Coding gene. Diseases associated with GTSF1 include Pityriasis Rubra Pilaris and Pediatric Germ Cell Cancer. An important paralog of this gene is GTSF1L.

UniProtKB/Swiss-Prot Summary for GTSF1 Gene

  • Required for spermatogenesis and is involved in the suppression of retrotransposon transcription in male germ cells.

Additional gene information for GTSF1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTSF1 Gene

Genomics for GTSF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GTSF1 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 GTSF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTSF1

Top Transcription factor binding sites by QIAGEN in the GTSF1 gene promoter:
  • AREB6
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Evi-1
  • POU2F1
  • POU2F1a

Genomic Locations for GTSF1 Gene

Genomic Locations for GTSF1 Gene
chr12:54,455,950-54,473,602
(GRCh38/hg38)
Size:
17,653 bases
Orientation:
Minus strand
chr12:54,849,734-54,867,386
(GRCh37/hg19)
Size:
17,653 bases
Orientation:
Minus strand

Genomic View for GTSF1 Gene

Genes around GTSF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTSF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTSF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTSF1 Gene

Proteins for GTSF1 Gene

  • Protein details for GTSF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WW33-GTSF1_HUMAN
    Recommended name:
    Gametocyte-specific factor 1
    Protein Accession:
    Q8WW33
    Secondary Accessions:
    • B3KQ60
    • Q0VGM4
    • Q8N778

    Protein attributes for GTSF1 Gene

    Size:
    167 amino acids
    Molecular mass:
    19266 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GTSF1 Gene

Post-translational modifications for GTSF1 Gene

  • Ubiquitination at Lys152
  • Modification sites at PhosphoSitePlus

Other Protein References for GTSF1 Gene

No data available for DME Specific Peptides for GTSF1 Gene

Domains & Families for GTSF1 Gene

Gene Families for GTSF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GTSF1 Gene

InterPro:
Blocks:
  • Protein of unknown function UPF0224
ProtoNet:

Suggested Antigen Peptide Sequences for GTSF1 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM112B (GTSF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WW33

UniProtKB/Swiss-Prot:

GTSF1_HUMAN :
  • Belongs to the UPF0224 (FAM112) family.
Family:
  • Belongs to the UPF0224 (FAM112) family.
genes like me logo Genes that share domains with GTSF1: view

Function for GTSF1 Gene

Molecular function for GTSF1 Gene

UniProtKB/Swiss-Prot Function:
Required for spermatogenesis and is involved in the suppression of retrotransposon transcription in male germ cells.

Phenotypes From GWAS Catalog for GTSF1 Gene

Gene Ontology (GO) - Molecular Function for GTSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GTSF1: view
genes like me logo Genes that share phenotypes with GTSF1: view

Animal Models for GTSF1 Gene

MGI Knock Outs for GTSF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTSF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GTSF1 Gene

Localization for GTSF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTSF1 Gene

Cytoplasm.

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 GTSF1 gene
Compartment Confidence
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GTSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with GTSF1: view

Pathways & Interactions for GTSF1 Gene

PathCards logo

SuperPathways for GTSF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GTSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with GTSF1: view

No data available for Pathways by source and SIGNOR curated interactions for GTSF1 Gene

Drugs & Compounds for GTSF1 Gene

No Compound Related Data Available

Transcripts for GTSF1 Gene

mRNA/cDNA for GTSF1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTSF1

Alternative Splicing Database (ASD) splice patterns (SP) for GTSF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5:

Relevant External Links for GTSF1 Gene

GeneLoc Exon Structure for
GTSF1

Expression for GTSF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GTSF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GTSF1 Gene

This gene is overexpressed in Testis (x41.7).

Protein differential expression in normal tissues from HIPED for GTSF1 Gene

This gene is overexpressed in Testis (37.7), Fetal ovary (22.0), and Ovary (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GTSF1 Gene



Protein tissue co-expression partners for GTSF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTSF1

SOURCE GeneReport for Unigene cluster for GTSF1 Gene:

Hs.524476
genes like me logo Genes that share expression patterns with GTSF1: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTSF1 Gene

Orthologs for GTSF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GTSF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GTSF1 30 31
  • 99.8 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 93 (a)
OneToMany
GTSF1 30
  • 92.42 (n)
-- 31
  • 78 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia GTSF1 30 31
  • 91.62 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gtsf1 30 17 31
  • 89.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gtsf1 30
  • 89.82 (n)
Oppossum
(Monodelphis domestica)
Mammalia GTSF1 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GTSF1 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GTSF1 30 31
  • 63.91 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GTSF1 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gtsf1 30
  • 64.77 (n)
Str.6726 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.5140 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100535654 30
  • 57.53 (n)
GTSF1 31
  • 37 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2098 31
  • 16 (a)
OneToMany
Species where no ortholog for GTSF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for GTSF1 Gene

ENSEMBL:
Gene Tree for GTSF1 (if available)
TreeFam:
Gene Tree for GTSF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GTSF1: view image

Paralogs for GTSF1 Gene

Paralogs for GTSF1 Gene

(1) SIMAP similar genes for GTSF1 Gene using alignment to 2 proteins:

  • GTSF1_HUMAN
  • G3V1V4_HUMAN
genes like me logo Genes that share paralogs with GTSF1: view

Variants for GTSF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GTSF1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
709454 Benign: not provided 54,462,153(-) G/A SYNONYMOUS_VARIANT
712120 Benign: not provided 54,462,182(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GTSF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GTSF1 Gene

Variant ID Type Subtype PubMed ID
esv2745917 CNV deletion 23290073
esv3549240 CNV deletion 23714750
nsv473790 CNV novel sequence insertion 20440878
nsv508674 CNV deletion 20534489
nsv717 CNV deletion 18451855

Variation tolerance for GTSF1 Gene

Residual Variation Intolerance Score: 54.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GTSF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTSF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTSF1 Gene

Disorders for GTSF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GTSF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pityriasis rubra pilaris
  • prp
pediatric germ cell cancer
  • paediatric germ cell cancer
sezary's disease
  • sezary disease
- elite association - COSMIC cancer census association via MalaCards
Search GTSF1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with GTSF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GTSF1 Gene

Publications for GTSF1 Gene

  1. Isolation and expression of the human gametocyte-specific factor 1 gene (GTSF1) in fetal ovary, oocytes, and preimplantation embryos. (PMID: 27646122) Huntriss J … Picton HM (Journal of assisted reproduction and genetics 2017) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. LZTR1 is a regulator of RAS ubiquitination and signaling. (PMID: 30442766) Bigenzahn JW … Superti-Furga G (Science (New York, N.Y.) 2018) 3
  5. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3

Products for GTSF1 Gene

Sources for GTSF1 Gene