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FLASH GENE

Symbol

PSMC3IP

contributors: mct/npt - updated : 25-10-2016

HGNC name	PSMC3 interacting protein
HGNC id	17928

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	XXGD XX gonadal dysgenesis
Location	17q21.31      Physical location : 40.724.328 - 40.729.747
Synonym name	proteasome (prosome, macropain) 26S subunit, ATPase 3, interacting protein
	TAT binding protein (TBP1 interacting protein)
	GT198 complete ORF
	TBP-1 interacting protein
	nuclear receptor coactivator GT198
Synonym symbol(s)	GT198, OV4, HUMGT198A, TBPIP, HOP2, ODG3

DNA

TYPE	functioning gene
STRUCTURE	5.52 kb     8 Exon(s)

regulatory sequence

cytosine-phosphate-guanine/HTF

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

in the BRCA1 (large) region, close to HSD17B1

RNA

TRANSCRIPTS	type	messenger

text	6 distinct splice variant transcripts generated by alternative promoter usage or alternative splicing (PMID: 23946869)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_013290 8 - 1318 NP_037422 - 205 - 2002 11739747 NM_016556 8 - 1354 NP_057640 - 217 - 2002 11739747 NM_001256015 8 - 1609 NP_001242944 - 138 - 2002 11739747 NM_001256016 9 - 1495 NP_001242945 - 138 - 2002 11739747

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 Lymphoid/Immune tonsils       highly Reproductive female system breast mammary gland       female system uterus     highly   male system testis       Respiratory lung       highly Skin/Tegument skin       highly Urinary kidney         Visual eye

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	several phosphorylation sites
	a leucine zipper required for its dimerization
	C -terminal basic region required for efficient DNA binding and also essential for its homologous pairing stimulation activity

HOMOLOGY

intraspecies

homolog to GT198

Homologene

FAMILY

HOP2 family

CATEGORY

chaperone/stress , enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus
text	proteasome

basic FUNCTION	broad spectrum coactivator
	a tissue-specific, kinase-regulated nuclear receptor coactivator that interacts with the DNA-binding domains of nuclear receptors
	regulate steroid hormone receptor-mediated transcription and to stimulate homologous recombination in DNA repair
	PSMC3IP-MND1 stabilizes the DMC1-single-stranded DNA (ssDNA) filament and promotes the capture of the double-stranded DNA partner by the recombinase filament to assemble the synaptic complex
	PSMC3IP-MND1 is a 'molecular trigger' of RAD51 DNA strand exchange
	RAD51 and the PSMC3IP-MND1 heterodimer, are essential for homologous chromosome synapsis during meiosis
	PSMC3IP and EPSTI1 are able to modulate the extrinsic apoptotic pathway in estrogen receptor positive and triple negative breast cancer cell lines
	PSMC3IP/MND1 is expressed in somatic tissues, primary human fibroblasts and cell lines, and that it functions in conjunction with the RAD51 recombinase to repair damaged telomeres via the alternate lengthening of telomeres mechanism
	is a steroid hormone receptor coactivator and a crucial factor in DNA repair

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the multicatalytic proteinase complex
	part of PSMC3IP/MND1 complex that may ensure proper pairing between homologous chromosomes through its stimulation of strand exchange during meiosis (Enomoto 2006)
	evolutionarily conserved PSMC3IP/MND1 complex is a key cofactor for the meiosis-specific recombinase DMC1

INTERACTION

DNA

RNA

small molecule

protein	enhancing the inhibitory actin of PSMC3 (TBP1) in HIV-1 Tat-madiated transactivation in vitro
	interacting with the DNA-binding domains of nuclear receptors
	interacting with PSMC3 (directly PSMC3 binds AR and might participate in AR-mediated transcriptional activation in cooperation with PSMC3IP) (Satoh 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

XXGD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral germinal mutation       are present in breast and ovarian cancer families

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	PSMC3IP expression is a specific marker of mutant breast tumor stroma and has the potential to facilitate diagnosis and targeted treatment of human breast cancer
Therapy target

ANIMAL & CELL MODELS