PSMC3IP (PSMC3 interacting protein)

Gene

• Entrez ID: 29893
• Gene name: PSMC3 interacting protein
• Gene symbol: PSMC3IP
• Synonyms: GT198, HOP2, HUMGT198A, ODG3, TBPIP
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can al

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016392	hsa-miR-193b-3p	Microarray	20304954
MIRT024674	hsa-miR-215-5p	Microarray	19074876
MIRT026333	hsa-miR-192-5p	Microarray	19074876
MIRT042239	hsa-miR-484	CLASH	23622248
MIRT1270345	hsa-miR-203	CLIP-seq
MIRT1270346	hsa-miR-217	CLIP-seq
MIRT1270347	hsa-miR-3150a-5p	CLIP-seq
MIRT1270348	hsa-miR-3150b-5p	CLIP-seq
MIRT1270349	hsa-miR-3620	CLIP-seq
MIRT1270350	hsa-miR-3691-3p	CLIP-seq
MIRT1270351	hsa-miR-371b-5p	CLIP-seq
MIRT1270352	hsa-miR-4418	CLIP-seq
MIRT1270353	hsa-miR-4698	CLIP-seq
MIRT1270354	hsa-miR-4799-5p	CLIP-seq
MIRT1270355	hsa-miR-509-3-5p	CLIP-seq
MIRT1270356	hsa-miR-509-5p	CLIP-seq
MIRT1270357	hsa-miR-1200	CLIP-seq
MIRT1270358	hsa-miR-296-5p	CLIP-seq
MIRT1270359	hsa-miR-3125	CLIP-seq
MIRT1270360	hsa-miR-3916	CLIP-seq
MIRT1270361	hsa-miR-4290	CLIP-seq
MIRT1270362	hsa-miR-4324	CLIP-seq
MIRT1270363	hsa-miR-4464	CLIP-seq
MIRT1270364	hsa-miR-4748	CLIP-seq
MIRT1270365	hsa-miR-4765	CLIP-seq
MIRT1270366	hsa-miR-4786-3p	CLIP-seq
MIRT1270367	hsa-miR-520a-5p	CLIP-seq
MIRT1270368	hsa-miR-525-5p	CLIP-seq
MIRT1270369	hsa-miR-544b	CLIP-seq
MIRT2457352	hsa-miR-150	CLIP-seq
MIRT1270349	hsa-miR-3620	CLIP-seq
MIRT1270351	hsa-miR-371b-5p	CLIP-seq
MIRT2457353	hsa-miR-4264	CLIP-seq
MIRT2457354	hsa-miR-4302	CLIP-seq
MIRT2457355	hsa-miR-4423-5p	CLIP-seq
MIRT2457356	hsa-miR-4652-3p	CLIP-seq
MIRT1270353	hsa-miR-4698	CLIP-seq
MIRT2457357	hsa-miR-4713-5p	CLIP-seq
MIRT2457358	hsa-miR-4757-5p	CLIP-seq
MIRT2457359	hsa-miR-4763-5p	CLIP-seq
MIRT2457360	hsa-miR-4797-3p	CLIP-seq
MIRT2457361	hsa-miR-532-3p	CLIP-seq
MIRT2457352	hsa-miR-150	CLIP-seq
MIRT1270349	hsa-miR-3620	CLIP-seq
MIRT1270351	hsa-miR-371b-5p	CLIP-seq
MIRT2457356	hsa-miR-4652-3p	CLIP-seq
MIRT1270353	hsa-miR-4698	CLIP-seq
MIRT2457357	hsa-miR-4713-5p	CLIP-seq
MIRT2457358	hsa-miR-4757-5p	CLIP-seq
MIRT2457361	hsa-miR-532-3p	CLIP-seq
MIRT2457357	hsa-miR-4713-5p	CLIP-seq
MIRT1270349	hsa-miR-3620	CLIP-seq
MIRT1270351	hsa-miR-371b-5p	CLIP-seq
MIRT2457356	hsa-miR-4652-3p	CLIP-seq
MIRT1270353	hsa-miR-4698	CLIP-seq
MIRT2457357	hsa-miR-4713-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0030374	Function	Nuclear receptor coactivator activity	IMP	21963259
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IEA

Other IDs

• MIM: 608665
• HGNC: 17928
• e!Ensembl: ENSG00000131470

Protein

• UniProt ID: Q9P2W1
• Protein name: Homologous-pairing protein 2 homolog (Nuclear receptor coactivator GT198) (PSMC3-interacting protein) (Proteasome 26S ATPase subunit 3-interacting protein) (Tat-binding protein 1-interacting protein) (TBP-1-interacting protein)
• Protein function: Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07106	TBPIP	11 → 74	TBPIP/Hop2 winged helix domain	Domain
  PF18517	LZ3wCH	154 → 211	Leucine zipper with capping helix domain	Domain

• Sequence:

  MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKI
  KEKMYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSA
  LTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVYRERQKYCKEWRKRKRMA
  TELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP

• Sequence length: 217

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Ovarian dysgenesis	OVARIAN DYSGENESIS 3	rs104894765, rs121909658, rs121909660, rs121909661, rs121909662, rs386833512, rs2093045125, rs386833510, rs386833511, rs386833513, rs386833514, rs386833515, rs864309645, rs864309646, rs1555178358, rs1567753148, rs1597722169	24481226
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578

Unknown
Disease name	Disease term	dbSNP ID	References
46, xx gonadal dysgenesis	46,XX gonadal dysgenesis
46,xx gonadal dysgenesis	Pure Gonadal Dysgenesis, 46, XX		21963259
Arachnodactyly	Arachnodactyly
Dwarfism	Dwarfism
Gonadal dysgenesis	Gonadal Dysgenesis, Gonadal Dysgenesis, 46,XX		21963259
Osteopenia	Osteopenia
Osteoporosis of vertebrae	Osteoporosis of vertebrae
Ovarian failure	Ovarian Failure, Premature		24481226
Physiologic amenorrhea	Primary physiologic amenorrhea
Premature menopause	Premature Menopause
Prostatic neoplasms	Prostatic Neoplasms		17013881
Secondary physiologic amenorrhea	Secondary physiologic amenorrhea
Streak ovary	Streak ovary