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    GTSF1 gametocyte specific factor 1 [ Homo sapiens (human) ]

    Gene ID: 121355, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GTSF1provided by HGNC
    Official Full Name
    gametocyte specific factor 1provided by HGNC
    Primary source
    HGNC:HGNC:26565
    See related
    Ensembl:ENSG00000170627 MIM:617484; AllianceGenome:HGNC:26565
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Cue110; FAM112B
    Summary
    Enables tRNA binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 49.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See GTSF1 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (54455957..54473602, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (54422534..54440179, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54849741..54867386, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene GPR84, ZNF385A, ITGA5 and GTSF1 antisense RNA 1 Neighboring gene zinc finger protein 385A Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:54781074-54781708 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:54781709-54782342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54805235-54806017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54806018-54806799 Neighboring gene integrin subunit alpha 5 Neighboring gene MPRA-validated peak1738 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:54867463-54867989 Neighboring gene MPRA-validated peak1739 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6445 Neighboring gene NCK associated protein 1 like Neighboring gene NANOG hESC enhancer GRCh37_chr12:54940243-54940787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54943935-54944563 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:54957859-54958550 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:54958551-54959240 Neighboring gene phosphodiesterase 1B Neighboring gene Sharpr-MPRA regulatory region 444

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Isolation and expression of the human gametocyte-specific factor 1 gene (GTSF1) in fetal ovary, oocytes, and preimplantation embryos. Huntriss J, et al. J Assist Reprod Genet, 2017 Jan. PMID 27646122, Free PMC Article
    2. Asterix/Gtsf1 links tRNAs and piRNA silencing of retrotransposons. Ipsaro JJ, et al. Cell Rep, 2021 Mar 30. PMID 33789107, Free PMC Article
    3. Ectopic expression of cancer-testis antigens in cutaneous T-cell lymphoma patients. Litvinov IV, et al. Clin Cancer Res, 2014 Jul 15. PMID 24850846, Free PMC Article
    4. LZTR1 is a regulator of RAS ubiquitination and signaling. Bigenzahn JW, et al. Science, 2018 Dec 7. PMID 30442766, Free PMC Article
    5. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. To our knowledge, this report is the first to describe the expression of the human GTSF1 gene in human gametes and preimplantation embryos.
      Title: Isolation and expression of the human gametocyte-specific factor 1 gene (GTSF1) in fetal ovary, oocytes, and preimplantation embryos.
    2. SYCP1, cTAGE1, and GTSF1 are expressed in cutaneous T-cell lymphoma, but not in normal skin or benign inflammatory dermatoses.
      Title: Ectopic expression of cancer-testis antigens in cutaneous T-cell lymphoma patients.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32942

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gametocyte-specific factor 1
    Names
    asterix
    family with sequence similarity 112, member B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_144594.3 → NP_653195.2  gametocyte-specific factor 1

      See identical proteins and their annotated locations for NP_653195.2

      Status: VALIDATED

      Source sequence(s)
      AK098819, BE503352
      Consensus CDS
      CCDS8881.1
      UniProtKB/Swiss-Prot
      B3KQ60, Q0VGM4, Q8N778, Q8WW33
      Related
      ENSP00000304185.5, ENST00000305879.8
      Conserved Domains (1) summary
      pfam05253
      Location:15 → 38
      zf-U11-48K; U11-48K-like CHHC zinc finger

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      54455957..54473602 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018800.3 → XP_016874289.1  gametocyte-specific factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KQ60, Q0VGM4, Q8N778, Q8WW33
      Conserved Domains (1) summary
      pfam05253
      Location:15 → 38
      zf-U11-48K; U11-48K-like CHHC zinc finger

    2. XM_024448834.2 → XP_024304602.1  gametocyte-specific factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KQ60, Q0VGM4, Q8N778, Q8WW33
      Related
      ENSP00000446485.1, ENST00000552397.5
      Conserved Domains (1) summary
      pfam05253
      Location:15 → 38
      zf-U11-48K; U11-48K-like CHHC zinc finger

    RNA

    1. XR_007063048.1 RNA Sequence

    2. XR_007063047.1 RNA Sequence

    3. XR_007063049.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      54422534..54440179 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371079.1 → XP_054227054.1  gametocyte-specific factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KQ60, Q0VGM4, Q8N778, Q8WW33

    2. XM_054371080.1 → XP_054227055.1  gametocyte-specific factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KQ60, Q0VGM4, Q8N778, Q8WW33

    RNA

    1. XR_008488528.1 RNA Sequence

    2. XR_008488529.1 RNA Sequence

    3. XR_008488530.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WW33.2 GenPept UniProtKB/Swiss-Prot:Q8WW33

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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