Aliases for GTSF1L Gene

Aliases for GTSF1L Gene

  • Gametocyte Specific Factor 1 Like 2 3 5
  • Family With Sequence Similarity 112, Member A 2 3
  • Gametocyte-Specific Factor 1-Like 3 4
  • DJ1028D15.4 2 3
  • C20orf65 3 4
  • FAM112A 3 4
  • Chromosome 20 Open Reading Frame 65 2
  • Protein FAM112A 4
  • GTSF1L 5

External Ids for GTSF1L Gene

Previous HGNC Symbols for GTSF1L Gene

  • C20orf65
  • FAM112A

Previous GeneCards Identifiers for GTSF1L Gene

  • GC20M041790
  • GC20M042354
  • GC20M039090

Summaries for GTSF1L Gene

GeneCards Summary for GTSF1L Gene

GTSF1L (Gametocyte Specific Factor 1 Like) is a Protein Coding gene. An important paralog of this gene is GTSF1.

Additional gene information for GTSF1L Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTSF1L Gene

Genomics for GTSF1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GTSF1L 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
GH20J043729 Enhancer 1 Ensembl ENCODE 600.7 -1.7 -1720 1.9 GATAD2A RCOR2 TARDBP ETV6 FOXA1 PKNOX1 CEBPA SOX13 TCF7 RELB GTSF1L LOC101927200 piR-38580-182 TOX2
GH20J043725 Enhancer 0.9 ENCODE 600.7 +1.6 1599 0.2 GATAD2A TFE3 SOX13 RCOR2 RXRB IRF2 SP1 CEBPA SCRT2 TCF7 GTSF1L LOC101927200 IFT52 piR-43107-184 MYBL2
GH20J043721 Promoter/Enhancer 0.9 Ensembl ENCODE 0.7 +4.7 4712 0.6 RELA DPF2 RELB RUNX3 USF1 POLR2A NBN ATF2 NFYC USF2 MYBL2 GTSF1L piR-43107-184
GH20J043665 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 +60.0 59989 2.9 SP1 ATF7 PRDM10 ZNF629 ZNF692 POLR2A JUND LARP7 ZIC2 RBFOX2 MYBL2 IFT52 SRSF6 piR-31162-302 GTSF1L
GH20J043736 Enhancer 1 Ensembl ENCODE 0.4 -9.9 -9866 1.2 RFX1 STAT3 ZNF143 RELA TCF12 IKZF2 TRIM22 ZNF37A PKNOX1 EED lnc-GTSF1L-2 IFT52 LOC107985441 GTSF1L LOC101927200 TOX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GTSF1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTSF1L

Top Transcription factor binding sites by QIAGEN in the GTSF1L gene promoter:
  • aMEF-2
  • c-Myc
  • ITF-2
  • Max
  • MEF-2
  • MEF-2A
  • Tal-1beta
  • USF-1
  • USF1
  • ZID

Genomic Locations for GTSF1L Gene

Genomic Locations for GTSF1L Gene
chr20:43,726,161-43,727,135
(GRCh38/hg38)
Size:
975 bases
Orientation:
Minus strand
chr20:42,354,801-42,355,642
(GRCh37/hg19)
Size:
842 bases
Orientation:
Minus strand

Genomic View for GTSF1L Gene

Genes around GTSF1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTSF1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTSF1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTSF1L Gene

Proteins for GTSF1L Gene

  • Protein details for GTSF1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1H1-GTSFL_HUMAN
    Recommended name:
    Gametocyte-specific factor 1-like
    Protein Accession:
    Q9H1H1
    Secondary Accessions:
    • Q5JWH5

    Protein attributes for GTSF1L Gene

    Size:
    148 amino acids
    Molecular mass:
    16872 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GTSF1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTSF1L Gene

Post-translational modifications for GTSF1L Gene

No Post-translational modifications

Other Protein References for GTSF1L Gene

No data available for DME Specific Peptides for GTSF1L Gene

Domains & Families for GTSF1L Gene

Gene Families for GTSF1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GTSF1L Gene

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

Suggested Antigen Peptide Sequences for GTSF1L Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM112A (GTSFL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H1H1

UniProtKB/Swiss-Prot:

GTSFL_HUMAN :
  • Belongs to the UPF0224 (FAM112) family.
Family:
  • Belongs to the UPF0224 (FAM112) family.
genes like me logo Genes that share domains with GTSF1L: view

Function for GTSF1L Gene

Phenotypes From GWAS Catalog for GTSF1L Gene

Gene Ontology (GO) - Molecular Function for GTSF1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GTSF1L: view

Phenotypes for GTSF1L Gene

genes like me logo Genes that share phenotypes with GTSF1L: view

Animal Model Products

CRISPR Products

miRNA for GTSF1L Gene

miRTarBase miRNAs that target GTSF1L

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTSF1L

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GTSF1L Gene

Localization for GTSF1L Gene

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 GTSF1L gene
Compartment Confidence
extracellular 2
nucleus 1
cytosol 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GTSF1L Gene

Pathways & Interactions for GTSF1L Gene

PathCards logo

SuperPathways for GTSF1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for GTSF1L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GTSF1L Gene

Drugs & Compounds for GTSF1L Gene

No Compound Related Data Available

Transcripts for GTSF1L Gene

mRNA/cDNA for GTSF1L Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 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 GTSF1L

Alternative Splicing Database (ASD) splice patterns (SP) for GTSF1L Gene

No ASD Table

Relevant External Links for GTSF1L Gene

GeneLoc Exon Structure for
GTSF1L

Expression for GTSF1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GTSF1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GTSF1L Gene

This gene is overexpressed in Testis (x52.3).

Protein differential expression in normal tissues from HIPED for GTSF1L Gene

This gene is overexpressed in Testis (59.0) and Ovary (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GTSF1L Gene



Protein tissue co-expression partners for GTSF1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTSF1L

SOURCE GeneReport for Unigene cluster for GTSF1L Gene:

Hs.447626

Evidence on tissue expression from TISSUES for GTSF1L Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with GTSF1L: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTSF1L Gene

Orthologs for GTSF1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for GTSF1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GTSF1L 30 31
  • 99.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GTSF1L 30 31
  • 83.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GTSF1L 30 31
  • 81.84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gtsf1l 30
  • 81.31 (n)
Mouse
(Mus musculus)
Mammalia Gtsf1l 30 17 31
  • 80.81 (n)
OneToMany
Zfp850 31
  • 28 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia GTSF1L 31
  • 27 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 30 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2098 31
  • 12 (a)
OneToMany
Species where no ortholog for GTSF1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for GTSF1L Gene

ENSEMBL:
Gene Tree for GTSF1L (if available)
TreeFam:
Gene Tree for GTSF1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GTSF1L: view image

Paralogs for GTSF1L Gene

Paralogs for GTSF1L Gene

(1) SIMAP similar genes for GTSF1L Gene using alignment to 1 proteins:

  • GTSFL_HUMAN
genes like me logo Genes that share paralogs with GTSF1L: view

Variants for GTSF1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GTSF1L Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs17826038 - p.Leu56Val

Additional dbSNP identifiers (rs#s) for GTSF1L Gene

Structural Variations from Database of Genomic Variants (DGV) for GTSF1L Gene

Variant ID Type Subtype PubMed ID
esv2673612 CNV deletion 23128226
esv3645886 CNV gain 21293372
esv3645889 CNV gain 21293372
esv3645891 CNV loss 21293372
nsv1057847 CNV loss 25217958

Variation tolerance for GTSF1L Gene

Residual Variation Intolerance Score: 88.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GTSF1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTSF1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTSF1L Gene

Disorders for GTSF1L Gene

Additional Disease Information for GTSF1L

No disorders were found for GTSF1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GTSF1L Gene

Publications for GTSF1L Gene

  1. Gtsf1l and Gtsf2 Are Specifically Expressed in Gonocytes and Spermatids but Are Not Essential for Spermatogenesis. (PMID: 26930067) Takemoto N … Miyazaki J (PloS one 2016) 2 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. A novel CHHC Zn-finger domain found in spliceosomal proteins and tRNA modifying enzymes. (PMID: 18703587) Andreeva A … Tidow H (Bioinformatics (Oxford, England) 2008) 4
  4. 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) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for GTSF1L Gene

Sources for GTSF1L Gene