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    GTSF1L gametocyte specific factor 1 like [ Homo sapiens (human) ]

    Gene ID: 149699, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GTSF1Lprovided by HGNC
    Official Full Name
    gametocyte specific factor 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:16198
    See related
    Ensembl:ENSG00000124196 AllianceGenome:HGNC:16198
    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
    FAM112A; C20orf65; dJ1028D15.4
    Summary
    Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 59.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See GTSF1L in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (43726164..43727002, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (45459361..45460212, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42354804..42355642, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904906 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:42285347-42285942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17905 Neighboring gene Sharpr-MPRA regulatory region 2194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17906 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42306550-42307240 Neighboring gene MYB proto-oncogene like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17908 Neighboring gene MPRA-validated peak4221 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17909 Neighboring gene uncharacterized LOC101927200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42374309-42375128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42394850-42395350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42395351-42395851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17914 Neighboring gene RNA, U6 small nuclear 639, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42443361-42443974 Neighboring gene uncharacterized LOC105372625

    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
    • 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. Gtsf1l and Gtsf2 Are Specifically Expressed in Gonocytes and Spermatids but Are Not Essential for Spermatogenesis. Takemoto N, et al. PLoS One, 2016. PMID 26930067, Free PMC Article
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    3. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC50820

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    gametocyte-specific factor 1-like
    Names
    family with sequence similarity 112, member A

    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_001008901.2 → NP_001008901.1  gametocyte-specific factor 1-like isoform 2

      See identical proteins and their annotated locations for NP_001008901.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the coding region, as compared to variant 1. The encoded isoform 2 lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AA813527, BQ428678
      Consensus CDS
      CCDS33471.1
      UniProtKB/Swiss-Prot
      Q9H1H1
      Related
      ENSP00000362096.2, ENST00000373005.2
      Conserved Domains (1) summary
      pfam05253
      Location:8 → 30
      zf-U11-48K; U11-48K-like CHHC zinc finger

    2. NM_176791.4 → NP_789761.1  gametocyte-specific factor 1-like isoform 1

      See identical proteins and their annotated locations for NP_789761.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC040049, BQ428678, BX355734
      Consensus CDS
      CCDS13323.1
      UniProtKB/Swiss-Prot
      Q5JWH5, Q9H1H1
      Related
      ENSP00000362094.1, ENST00000373003.2
      Conserved Domains (1) summary
      pfam05253
      Location:8 → 30
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      43726164..43727002 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260298.5 → XP_005260355.1  gametocyte-specific factor 1-like isoform X1

      Conserved Domains (1) summary
      pfam05253
      Location:8 → 30
      zf-U11-48K; U11-48K-like CHHC zinc finger

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      45459361..45460212 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323071.1 → XP_054179046.1  gametocyte-specific factor 1-like isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1H1.1 GenPept UniProtKB/Swiss-Prot:Q9H1H1

    Gene LinkOut

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

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