TSPYL1 TSPY like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSPYL1provided by HGNC
Official Full Name: TSPY like 1provided by HGNC
Primary source: HGNC:HGNC:12382
See related: Ensembl:ENSG00000189241 MIM:604714; AllianceGenome:HGNC:12382
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TSPYL
Summary: The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]
Orthologs: mouse all
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Genomic context

Location:: 6q22.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (116274858..116279930, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (117458843..117463912, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (116596021..116601093, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TSPYL1 as a Critical Regulator of TGFbeta Signaling through Repression of TGFBR1 and TSPYL2.
Title: TSPYL1 as a Critical Regulator of TGFβ Signaling through Repression of TGFBR1 and TSPYL2.
Unravelling the disease mechanism for TSPYL1 deficiency.
Title: Unravelling the disease mechanism for TSPYL1 deficiency.
The expression of spermatogenic phenotypes of TSPY1 defects is independent of variations in TSPYL1 and TSPYL5 in the Han Chinese population.
Title: Spermatogenic phenotype of testis-specific protein, Y-encoded, 1 (TSPY1) dosage deficiency is independent of variations in TSPY-like 1 (TSPYL1) and TSPY-like 5 (TSPYL5): a case-control study in a Han Chinese population.
Results show that mutations and polymorphisms in the TSPYL1 gene were not associated with sudden infant death syndrome in a cohort of 165 deceased Swiss infants.
Title: Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland.
Mutations in the TSPYL1 gene do not seem to play a major role in the pathogenesis of idiopathic male infertility, and mutation screening of the TSPYL1 gene can currently not be recommended in routine diagnostics of idiopathic male infertility.
Title: Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?
Mutations in TSPYL1 may contribute to anomalies of testicular development/function.
Title: Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic investigation of the TSPYL1 gene in sudden infant death syndrome.
The chromatin remodeling factor TSPYL1 had a very similar pattern of expression with an incremental increase in HPFH and decreased expression in deltabeta-thalassemia.
Title: Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster.

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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

Associated conditions

Description	Tests
Sudden infant death-dysgenesis of the testes syndrome MedGen: C1837371 OMIM: 608800 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr interacts with TSPYL1 and C20orf94 subunits of the SLX4 complex in Vpr-expressing THP-1 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

RH46654 (e-PCR)
- UniSTS:71778

WI-11947 (e-PCR)
- UniSTS:72676

1890 (e-PCR)
- UniSTS:47858

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in nucleosome assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: testis-specific Y-encoded-like protein 1

Names: TSPY-like protein 1

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.