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

Summary

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, Nov 2024]
Expression: Restricted expression toward testis (RPKM 49.6) See more
Orthologs: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G64350 (e-PCR)
- UniSTS:163902

G64404 (e-PCR)
- UniSTS:163907

Gtsf1 (e-PCR), detects polymorphism
- UniSTS:525736

RH45428 (e-PCR)
- UniSTS:81887

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)

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

54455957..54473602 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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