TSPY1 testis specific protein Y-linked 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSPY1provided by HGNC
Official Full Name: testis specific protein Y-linked 1provided by HGNC
Primary source: HGNC:HGNC:12381
See related: Ensembl:ENSG00000258992 MIM:480100; AllianceGenome:HGNC:12381
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: CT78; TSPY; DYS14; pJA923
Summary: The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Many functional paralogs and pseudogenes of this gene are present in a cluster in humans, but only a single, nonfunctional orthologous gene is found in mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Expression: Restricted expression toward testis (RPKM 33.8) See more
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Genomic context

Location:: Yp11.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (9466955..9469749)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (9653822..9656636)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (9304564..9307358)

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among Men.
Title: Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among Men.
Epigenetic modification-dependent androgen receptor occupancy facilitates the ectopic TSPY1 expression in prostate cancer cells.
Title: Epigenetic modification-dependent androgen receptor occupancy facilitates the ectopic TSPY1 expression in prostate cancer cells.
Compared to n-TSPY, all other PCR assays had poor performance to detect semen exposure. The n-TSPY is an accessible assay that may have great utility in assessing semen exposure in studies where many factors are expected to accelerate biomarkers' clearance.
Title: A novel nested polymerase chain reaction targeting the testis-specific protein Y-encoded family of genes for high sensitivity of recent semen exposure detection: Comparison with four other assays of semen detection.
Experimental evidence establishes TSPY1 as an oncogenic factor that facilitates tumor progression and causes poor prognosis in male patients with lung adenocarcinoma or hepatocellular carcinoma. These findings revealed that TSPY1 strongly promotes the activation of the PI3K/AKT and RAS signaling pathways through suppressing IGFBP3 gene transcription.
Title: Testis-specific protein, Y-linked 1 activates PI3K/AKT and RAS signaling pathways through suppressing IGFBP3 expression during tumor progression.
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.
TSPY and TSPX exert opposing effects on the transactivation functions of AR and AR-Vs important for various physiological and disease processes sensitive to male sex hormone actions, thereby not only affecting the pathogenesis of male-specific prostate cancer but also likely contributing to sex differences in the health and diseases of man.
Title: The Y-located proto-oncogene TSPY exacerbates and its X-homologue TSPX inhibits transactivation functions of androgen receptor and its constitutively active variants.
The aim of this study was to compare two Y chromosome markers-SRY and DYS14-for their utility in the diagnosis of fetal gender.
Title: Noninvasive Diagnosis of Fetal Gender: Utility of Combining DYS14 and SRY.
Studies indicate that TSPY1 (testis-specific protein, Y-linked 1) gene has been identified to be the most important candidate gene for gonadoblastoma.
Title: [Research progress of TSPY1 gene family].
Over-expression of Testis-specific Protein Y-encoded 1 is associated with male hepatocellular carcinoma.
Title: Over-expressed Testis-specific Protein Y-encoded 1 as a novel biomarker for male hepatocellular carcinoma.
The oncogenic events leading to an ectopic activation of TSPY and/or inactivating mutation/epigenetic silencing of TSPX could collectively contribute to the sexual dimorphism(s) in HCC and related liver cancers in male-biased manners.
Title: The potential contributions of a Y-located protooncogene and its X homologue in sexual dimorphisms in hepatocellular carcinoma.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482313

RH38674 (e-PCR)
- UniSTS:90956

G38360 (e-PCR)
- UniSTS:34942

NoName (e-PCR)
- UniSTS:486324

RH76258 (e-PCR)
- UniSTS:90549

RH38673 (e-PCR)
- UniSTS:87996

NoName (e-PCR)
- UniSTS:480763

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in gonadal mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in nucleosome assembly	IEA Inferred from Electronic Annotation more info
involved_in sex differentiation	TAS Traceable Author Statement more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation 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 protein 1

Names: cancer/testis antigen 78; testis specific protein, Y-linked

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.

Genomic

NG_027958.1 RefSeqGene

Range

5001..7795

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001197242.2 → NP_001184171.1 testis-specific Y-encoded protein 1 isoform TSPY-L

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice compared to variant 1, which results in a frameshift. The resulting isoform (TSPY-L) has a shorter and distinct C-terminus compared to isoform TSPY1-S.

Source sequence(s)

AC006156

Consensus CDS

CCDS76071.1

UniProtKB/TrEMBL

Q540R4

Related

ENSP00000389324.3, ENST00000423647.6

Conserved Domains (1) summary

cl08298
Location:103 → 273

NAP; Nucleosome assembly protein (NAP)
NM_001320964.2 → NP_001307893.1 testis-specific Y-encoded protein 1 isoform 3

Status: REVIEWED

Source sequence(s)

AI002165, BC121113

UniProtKB/TrEMBL

A0A087WSY7, A0A1W2PPS3, A4FUW6

Conserved Domains (1) summary

cl08298
Location:39 → 201

NAP; Nucleosome assembly protein (NAP)
NM_003308.4 → NP_003299.2 testis-specific Y-encoded protein 1 isoform TSPY-S

See identical proteins and their annotated locations for NP_003299.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (TSPY-S).

Source sequence(s)

AC006156

Consensus CDS

CCDS48205.1

UniProtKB/Swiss-Prot

A6NJD2, O00216, P09002, Q01534, Q0VAD3, Q9UNN7

UniProtKB/TrEMBL

Q540R4

Related

ENSP00000403304.1, ENST00000451548.6

Conserved Domains (1) summary

cl08298
Location:126 → 288

NAP; Nucleosome assembly protein (NAP)