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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)

 HOP2_HUMAN              Reviewed;         217 AA.
Q9P2W1; C5ILB7; Q14458; Q8WXG2; Q96HA2;
15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
01-OCT-2000, sequence version 1.
29-SEP-2021, entry version 135.
RecName: Full=Homologous-pairing protein 2 homolog;
AltName: Full=Nuclear receptor coactivator GT198;
AltName: Full=PSMC3-interacting protein;
AltName: Full=Proteasome 26S ATPase subunit 3-interacting protein;
AltName: Full=Tat-binding protein 1-interacting protein;
Short=TBP-1-interacting protein;
Name=PSMC3IP; Synonyms=HOP2, TBPIP;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
PubMed=7490091; DOI=10.1006/geno.1995.1185;
Rommens J.M., Durocher F., McArthur J., Tonin P., Leblanc J.-F., Allen T.,
Samson C., Ferri L., Narod S., Morgan K., Simard J.;
"Generation of a transcription map at the HSD17B locus centromeric to BRCA1
at 17q21.";
Genomics 28:530-542(1995).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND INTERACTION WITH
PSMC3.
PubMed=10806355; DOI=10.1016/s0378-1119(00)00141-4;
Ijichi H., Tanaka T., Nakamura T., Yagi H., Hakuba A., Sato M.;
"Molecular cloning and characterization of a human homologue of TBPIP, a
BRCA1 locus-related gene.";
Gene 248:99-107(2000).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), AND ALTERNATIVE SPLICING.
Peng M., Ko L.;
"Alternative splicing of GT198 in the BRCA1 locus.";
Submitted (AUG-2009) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16625196; DOI=10.1038/nature04689;
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
"DNA sequence of human chromosome 17 and analysis of rearrangement in the
human lineage.";
Nature 440:1045-1049(2006).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND SUBCELLULAR
LOCATION.
PubMed=11739747; DOI=10.1128/mcb.22.1.357-369.2002;
Ko L., Cardona G.R., Henrion-Caude A., Chin W.W.;
"Identification and characterization of a tissue-specific coactivator,
GT198, that interacts with the DNA-binding domains of nuclear receptors.";
Mol. Cell. Biol. 22:357-369(2002).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Uterus;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project:
the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
INTERACTION WITH MND1, AND FUNCTION.
PubMed=16407260; DOI=10.1074/jbc.m506506200;
Enomoto R., Kinebuchi T., Sato M., Yagi H., Kurumizaka H., Yokoyama S.;
"Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1 complex.";
J. Biol. Chem. 281:5575-5581(2006).
[8]
INDUCTION.
PubMed=17716379; DOI=10.1186/1477-7827-5-34;
Pan Q., Luo X., Chegini N.;
"Genomic and proteomic profiling I: leiomyomas in African Americans and
Caucasians.";
Reprod. Biol. Endocrinol. 5:34-34(2007).
[9]
FUNCTION, VARIANT ODG3 GLU-201 DEL, AND CHARACTERIZATION OF VARIANT ODG3
GLU-201 DEL.
PubMed=21963259; DOI=10.1016/j.ajhg.2011.09.006;
Zangen D., Kaufman Y., Zeligson S., Perlberg S., Fridman H., Kanaan M.,
Abdulhadi-Atwan M., Abu Libdeh A., Gussow A., Kisslov I., Carmel L.,
Renbaum P., Levy-Lahad E.;
"XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes
coactivation of estrogen-driven transcription.";
Am. J. Hum. Genet. 89:572-579(2011).
[10]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
-!- 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 DMC1 D-loop
formation from double-strand DNA. This complex stabilizes presynaptic
RAD51 and DMC1 filaments formed on single strand DNA to capture double-
strand DNA. This complex stimulates both synaptic and presynaptic
critical steps in RAD51 and DMC1-promoted homologous pairing. May
inhibit HIV-1 viral protein TAT activity and modulate the activity of
proteasomes through association with PSMC3. Acts as a tissue specific
coactivator of hormone-dependent transcription mediated by nuclear
receptors. {ECO:0000269|PubMed:10806355, ECO:0000269|PubMed:16407260,
ECO:0000269|PubMed:21963259}.
-!- SUBUNIT: Interacts with the DNA-binding domain of the nuclear receptors
NR3C1/GR, ESR2/ER-beta, THRB and RXRA (By similarity). Forms a stable
heterodimer with MND1. Interacts with PSMC3/TBP1. {ECO:0000250,
ECO:0000269|PubMed:10806355, ECO:0000269|PubMed:16407260}.
-!- INTERACTION:
Q9P2W1; Q9BWT6: MND1; NbExp=5; IntAct=EBI-9057595, EBI-11137441;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11739747}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q9P2W1-1; Sequence=Displayed;
Name=2;
IsoId=Q9P2W1-2; Sequence=VSP_030213;
Name=3;
IsoId=Q9P2W1-3; Sequence=VSP_047716;
-!- TISSUE SPECIFICITY: Highly expressed in testis and colon.
{ECO:0000269|PubMed:11739747, ECO:0000269|PubMed:7490091}.
-!- INDUCTION: Overexpressed in leiomyomas compared to myometrium.
{ECO:0000269|PubMed:17716379}.
-!- PTM: PTM: Phosphorylated by PKA, PKC and MAPK. {ECO:0000250}.
-!- DISEASE: Ovarian dysgenesis 3 (ODG3) [MIM:614324]: A disorder
characterized by lack of spontaneous pubertal development, primary
amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a
result of streak gonads. {ECO:0000269|PubMed:21963259}. Note=The
disease is caused by variants affecting the gene represented in this
entry.
-!- SIMILARITY: Belongs to the HOP2 family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAC41915.1; Type=Frameshift; Evidence={ECO:0000305};
---------------------------------------------------------------------------
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EMBL; L38933; AAC41915.1; ALT_FRAME; mRNA.
EMBL; AB030304; BAA92872.1; -; mRNA.
EMBL; AF440240; AAL33609.1; -; mRNA.
EMBL; FJ952180; ACR46655.1; -; mRNA.
EMBL; FJ952181; ACR46656.1; -; mRNA.
EMBL; FJ952182; ACR46657.1; -; mRNA.
EMBL; FJ952183; ACR46658.1; -; mRNA.
EMBL; GQ851964; ACX30903.1; -; mRNA.
EMBL; GQ851965; ACX30904.1; -; mRNA.
EMBL; AC067852; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC008792; AAH08792.1; -; mRNA.
CCDS; CCDS11431.1; -. [Q9P2W1-2]
CCDS; CCDS45688.1; -. [Q9P2W1-1]
PIR; I68521; I68521.
RefSeq; NP_001242943.1; NM_001256014.1.
RefSeq; NP_001242944.1; NM_001256015.1.
RefSeq; NP_001242945.1; NM_001256016.1.
RefSeq; NP_037422.2; NM_013290.6. [Q9P2W1-2]
RefSeq; NP_057640.1; NM_016556.3. [Q9P2W1-1]
SMR; Q9P2W1; -.
BioGRID; 118945; 29.
CORUM; Q9P2W1; -.
IntAct; Q9P2W1; 16.
STRING; 9606.ENSP00000377384; -.
iPTMnet; Q9P2W1; -.
PhosphoSitePlus; Q9P2W1; -.
BioMuta; PSMC3IP; -.
DMDM; 74719969; -.
EPD; Q9P2W1; -.
jPOST; Q9P2W1; -.
MassIVE; Q9P2W1; -.
MaxQB; Q9P2W1; -.
PaxDb; Q9P2W1; -.
PeptideAtlas; Q9P2W1; -.
PRIDE; Q9P2W1; -.
ProteomicsDB; 83901; -. [Q9P2W1-1]
ProteomicsDB; 83902; -. [Q9P2W1-2]
Antibodypedia; 29297; 70 antibodies.
DNASU; 29893; -.
Ensembl; ENST00000253789; ENSP00000253789; ENSG00000131470. [Q9P2W1-2]
Ensembl; ENST00000393795; ENSP00000377384; ENSG00000131470. [Q9P2W1-1]
Ensembl; ENST00000590760; ENSP00000466381; ENSG00000131470. [Q9P2W1-3]
GeneID; 29893; -.
KEGG; hsa:29893; -.
UCSC; uc002iai.4; human. [Q9P2W1-1]
CTD; 29893; -.
DisGeNET; 29893; -.
GeneCards; PSMC3IP; -.
HGNC; HGNC:17928; PSMC3IP.
HPA; ENSG00000131470; Tissue enhanced (testis).
MalaCards; PSMC3IP; -.
MIM; 608665; gene.
MIM; 614324; phenotype.
neXtProt; NX_Q9P2W1; -.
OpenTargets; ENSG00000131470; -.
Orphanet; 243; 46,XX gonadal dysgenesis.
PharmGKB; PA143485584; -.
VEuPathDB; HostDB:ENSG00000131470; -.
eggNOG; KOG4603; Eukaryota.
GeneTree; ENSGT00390000006890; -.
HOGENOM; CLU_181023_0_0_1; -.
InParanoid; Q9P2W1; -.
OMA; IETDEDC; -.
PhylomeDB; Q9P2W1; -.
TreeFam; TF328666; -.
PathwayCommons; Q9P2W1; -.
Reactome; R-HSA-912446; Meiotic recombination.
BioGRID-ORCS; 29893; 20 hits in 1020 CRISPR screens.
ChiTaRS; PSMC3IP; human.
GenomeRNAi; 29893; -.
Pharos; Q9P2W1; Tbio.
PRO; PR:Q9P2W1; -.
Proteomes; UP000005640; Chromosome 17.
RNAct; Q9P2W1; protein.
Bgee; ENSG00000131470; Expressed in vagina and 230 other tissues.
ExpressionAtlas; Q9P2W1; baseline and differential.
Genevisible; Q9P2W1; HS.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
GO; GO:0030374; F:nuclear receptor coactivator activity; IMP:UniProtKB.
GO; GO:0007131; P:reciprocal meiotic recombination; IEA:InterPro.
Gene3D; 1.10.10.10; -; 1.
InterPro; IPR040461; Hop2.
InterPro; IPR010776; Hop2_WH_dom.
InterPro; IPR040661; LZ3wCH.
InterPro; IPR036388; WH-like_DNA-bd_sf.
PANTHER; PTHR15938; PTHR15938; 1.
Pfam; PF18517; LZ3wCH; 1.
Pfam; PF07106; TBPIP; 1.
1: Evidence at protein level;
Alternative splicing; Coiled coil; Disease variant; DNA recombination;
DNA-binding; Meiosis; Nucleus; Phosphoprotein; Reference proteome.
CHAIN 1..217
/note="Homologous-pairing protein 2 homolog"
/id="PRO_0000314135"
REGION 118..182
/note="DNA binding"
/evidence="ECO:0000250"
COILED 93..153
/evidence="ECO:0000255"
VAR_SEQ 1..125
/note="Missing (in isoform 3)"
/evidence="ECO:0000303|Ref.3"
/id="VSP_047716"
VAR_SEQ 113..124
/note="Missing (in isoform 2)"
/evidence="ECO:0000303|PubMed:15489334"
/id="VSP_030213"
VARIANT 163
/note="Y -> N (in dbSNP:rs2292754)"
/id="VAR_037841"
VARIANT 201
/note="Missing (in ODG3; impairs function as estrogen
receptor coactivator)"
/evidence="ECO:0000269|PubMed:21963259"
/id="VAR_066636"
CONFLICT 8
/note="Missing (in Ref. 1; AAC41915)"
/evidence="ECO:0000305"
CONFLICT 106
/note="S -> T (in Ref. 1; AAC41915 and 5; AAL33609)"
/evidence="ECO:0000305"
CONFLICT 184
/note="S -> L (in Ref. 5; AAL33609)"
/evidence="ECO:0000305"
SEQUENCE 217 AA; 24906 MW; 892B7D20CAA0A121 CRC64;
MSKGRAEAAA GAAGILLRYL QEQNRPYSSQ DVFGNLQREH GLGKAVVVKT LEQLAQQGKI
KEKMYGKQKI YFADQDQFDM VSDADLQVLD GKIVALTAKV QSLQQSCRYM EAELKELSSA
LTTPEMQKEI QELKKECAGY RERLKNIKAA TNHVTPEEKE QVYRERQKYC KEWRKRKRMA
TELSDAILEG YPKSKKQFFE EVGIETDEDY NVTLPDP


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[Ncoa6 Aib3 Prip Rap250 Trbp] Nuclear receptor coactivator 6 (Activating signal cointegrator 2) (ASC-2) (Amplified in breast cancer protein 3) (Cancer-amplified transcriptional coactivator ASC-2) (Nuclear receptor coactivator RAP250) (NRC) (Nuclear receptor-activating protein, 250 kDa) (Peroxisome proliferator-activated receptor-interacting protein) (PPAR-interacting protein) (Thyroid hormone receptor-binding protein)
[RUVBL1 INO80H NMP238 TIP49 TIP49A] RuvB-like 1 (EC 3.6.4.12) (49 kDa TATA box-binding protein-interacting protein) (49 kDa TBP-interacting protein) (54 kDa erythrocyte cytosolic protein) (ECP-54) (INO80 complex subunit H) (Nuclear matrix protein 238) (NMP 238) (Pontin 52) (TIP49a) (TIP60-associated protein 54-alpha) (TAP54-alpha)
[NCOA3 AIB1 BHLHE42 RAC3 TRAM1] Nuclear receptor coactivator 3 (NCoA-3) (EC 2.3.1.48) (ACTR) (Amplified in breast cancer 1 protein) (AIB-1) (CBP-interacting protein) (pCIP) (Class E basic helix-loop-helix protein 42) (bHLHe42) (Receptor-associated coactivator 3) (RAC-3) (Steroid receptor coactivator protein 3) (SRC-3) (Thyroid hormone receptor activator molecule 1) (TRAM-1)
[RPT5 YTA1 YOR117W O3258 YOR3258W] 26S proteasome regulatory subunit 6A (Tat-binding protein homolog 1) (TBP-1)
[KAT5 HTATIP TIP60] Histone acetyltransferase KAT5 (EC 2.3.1.48) (60 kDa Tat-interactive protein) (Tip60) (Histone acetyltransferase HTATIP) (HIV-1 Tat interactive protein) (Lysine acetyltransferase 5) (cPLA(2)-interacting protein)
[Ncoa6 Aib3 Rap250 Trbp] Nuclear receptor coactivator 6 (Activating signal cointegrator 2) (ASC-2) (Amplified in breast cancer protein 3) (Cancer-amplified transcriptional coactivator ASC-2) (Nuclear receptor coactivator RAP250) (NRC) (Nuclear receptor-activating protein, 250 kDa) (Peroxisome proliferator-activated receptor-interacting protein) (PPAR-interacting protein) (PRIP) (Thyroid hormone receptor-binding protein) (Fragment)
[PSMC2 MSS1] 26S proteasome regulatory subunit 7 (26S proteasome AAA-ATPase subunit RPT1) (Proteasome 26S subunit ATPase 2) (Protein MSS1)
[RUVBL2 INO80J TIP48 TIP49B CGI-46] RuvB-like 2 (EC 3.6.4.12) (48 kDa TATA box-binding protein-interacting protein) (48 kDa TBP-interacting protein) (51 kDa erythrocyte cytosolic protein) (ECP-51) (INO80 complex subunit J) (Repressing pontin 52) (Reptin 52) (TIP49b) (TIP60-associated protein 54-beta) (TAP54-beta)
[MED1 ARC205 CRSP1 CRSP200 DRIP205 DRIP230 PBP PPARBP PPARGBP RB18A TRAP220 TRIP2] Mediator of RNA polymerase II transcription subunit 1 (Activator-recruited cofactor 205 kDa component) (ARC205) (Mediator complex subunit 1) (Peroxisome proliferator-activated receptor-binding protein) (PBP) (PPAR-binding protein) (Thyroid hormone receptor-associated protein complex 220 kDa component) (Trap220) (Thyroid receptor-interacting protein 2) (TR-interacting protein 2) (TRIP-2) (Vitamin D receptor-interacting protein complex component DRIP205) (p53 regulatory protein RB18A)
[TERF2IP DRIP5 RAP1 PP8000] Telomeric repeat-binding factor 2-interacting protein 1 (TERF2-interacting telomeric protein 1) (TRF2-interacting telomeric protein 1) (Dopamine receptor-interacting protein 5) (Repressor/activator protein 1 homolog) (RAP1 homolog) (hRap1)
[PSMC6 SUG2] 26S proteasome regulatory subunit 10B (26S proteasome AAA-ATPase subunit RPT4) (Proteasome 26S subunit ATPase 6) (Proteasome subunit p42)
[RPT3 YNT1 YTA2 YDR394W D9509.14] 26S proteasome regulatory subunit 6B homolog (Protein YNT1) (Tat-binding homolog 2)
[PSMD4 MCB1] 26S proteasome non-ATPase regulatory subunit 4 (26S proteasome regulatory subunit RPN10) (26S proteasome regulatory subunit S5A) (Antisecretory factor 1) (AF) (ASF) (Multiubiquitin chain-binding protein)
[NRIP1] Nuclear receptor-interacting protein 1 (Nuclear factor RIP140) (Receptor-interacting protein 140)
[PSMC1] 26S proteasome regulatory subunit 4 (P26s4) (26S proteasome AAA-ATPase subunit RPT2) (Proteasome 26S subunit ATPase 1)
[HTATIP2 CC3 TIP30] Oxidoreductase HTATIP2 (EC 1.1.1.-) (30 kDa HIV-1 TAT-interacting protein) (HIV-1 TAT-interactive protein 2)
[AIP XAP2] AH receptor-interacting protein (AIP) (Aryl-hydrocarbon receptor-interacting protein) (HBV X-associated protein 2) (XAP-2) (Immunophilin homolog ARA9)
[PSMD1] 26S proteasome non-ATPase regulatory subunit 1 (26S proteasome regulatory subunit RPN2) (26S proteasome regulatory subunit S1) (26S proteasome subunit p112)
[RPT1 CIM5 YTA3 YKL145W] 26S proteasome regulatory subunit 7 homolog (Protein CIM5) (Tat-binding homolog 3)

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