PSMC3IP (PSMC3 interacting protein)

2014-02-01  

Identity

HGNC
LOCATION
17q21.2
LOCUSID
ALIAS
GT198,HOP2,HUMGT198A,ODG3,TBPIP
FUSION GENES

Other Information

Locus ID:

NCBI: 29893
MIM: 608665
HGNC: 17928
Ensembl: ENSG00000131470

Variants:

dbSNP: 29893
ClinVar: 29893
TCGA: ENSG00000131470
COSMIC: PSMC3IP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131470ENST00000253789Q9P2W1
ENSG00000131470ENST00000393795Q9P2W1
ENSG00000131470ENST00000393795A0A158RUX1
ENSG00000131470ENST00000586337K7ELD8
ENSG00000131470ENST00000587209K7ERB6
ENSG00000131470ENST00000588544K7EK12
ENSG00000131470ENST00000590760Q9P2W1
ENSG00000131470ENST00000590931K7EQS1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117397472002Identification and characterization of a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors.32
164072602006Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1 complex.28
164072602006Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1 complex.28
219632592011XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.27
189418852008Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest.16
193250022009Tat-binding protein-1 (TBP-1), an ATPase of 19S regulatory particles of the 26S proteasome, enhances androgen receptor function in cooperation with TBP-1-interacting protein/Hop2.12
240979742013Human ovarian cancer stroma contains luteinized theca cells harboring tumor suppressor gene GT198 mutations.4
244812262014No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency.4
292408912018Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.4
304064452019Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.1

Citation

Dessen P

PSMC3IP (PSMC3 interacting protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53699/psmc3ip