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

Gene ID: 149699, updated on 2-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 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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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

  • 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

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