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FLASH GENE

Symbol

TSPY1

contributors: mct - updated : 25-09-2010

HGNC name	testis specific protein, Y-linked 1
HGNC id	12381

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Yp11.2      Physical location : 9.304.563 - 9.307.357
Synonym name	cancer/testis antigen 78
Synonym symbol(s)	DYS14, pJA923, TSPY, CT78

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	35 copies tandemly arranged
STRUCTURE	2.79 kb     6 Exon(s)

regulatory sequence	Promoter
text structure	cis-active elements yielded two putative SOX-like binding sites in the enhancing region (testis-specific expression is mediated by Sox proteins)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003308 6 splicing 1171 NP_003299 35 308 - PMID: 14684991 variant 2 - splicing 997 isoform 2 33 295 - PMID: 14684991 variant 3 - splicing - isoform 3 35 314 - PMID: 14684991

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system prostate         male system testis

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatogonia

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a cyclin B binding domain (similar to SET oncogene, NAP/SET domain)
	a conserved domain with TSPX

HOMOLOGY

Homologene

FAMILY

nucleosome assembly protein (NAP) family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	playing a role in male specific-cancer including prostate and testicular cancer
	may be functioning as a proliferation factor during spermatogenesis
	enhances while TSPX represses the cyclin B1-CDK1 phosphorylation activity
	repressor of cell proliferation in germ-cell tumors and presumably also in normal gonadal cells at early stages of development
	serves as a repressor in androgen-induced tumor development in testicular germ-cell tumors (
	might serve as an AR repressor in developing testis in early embryonic stages

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	colocalizes with cyclin B1 during the cell cycle, particularly on the mitotic spindles at metaphase
	AR transcriptional repressor
	interaction with TSPY1, through six lysine residues observed in EEF1A2 suggesting their possible role in TSPY1-EEF1A2 complex formation essential for germ cell development and spermatogenesis

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in testicular seminoma constitutional     --other   epigenetic dysregulation of TSPY in incompatible germ or somatic cells could promote cell proliferation and predispose susceptible cells to tumorigenesis tumoral     --low   in advanced malignant testicular germ-cell tumors

Susceptibility

to male infertility

Variant & Polymorphism repeat	copy number variation significantly influences spermatogenic efficiency

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS