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Protein

Homologous-pairing protein 2 homolog

Gene

PSMC3IP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • ligand-dependent nuclear receptor transcription coactivator activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processDNA recombination, Meiosis

Enzyme and pathway databases

ReactomeiR-HSA-912446 Meiotic recombination

Names & Taxonomyi

Protein namesi
Recommended name:
Homologous-pairing protein 2 homolog
Alternative name(s):
Nuclear receptor coactivator GT198
PSMC3-interacting protein
Proteasome 26S ATPase subunit 3-interacting protein
Tat-binding protein 1-interacting protein
Short name:
TBP-1-interacting protein
Gene namesi
Name:PSMC3IP
Synonyms:HOP2, TBPIP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000131470.14
HGNCiHGNC:17928 PSMC3IP
MIMi608665 gene
neXtProtiNX_Q9P2W1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Ovarian dysgenesis 3 (ODG3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.
See also OMIM:614324
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066636201Missing in ODG3; impairs function as estrogen receptor coactivator. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi29893
MalaCardsiPSMC3IP
MIMi614324 phenotype
OpenTargetsiENSG00000131470
Orphaneti243 46,XX gonadal dysgenesis
PharmGKBiPA143485584

Polymorphism and mutation databases

BioMutaiPSMC3IP
DMDMi74719969

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003141351 – 217Homologous-pairing protein 2 homologAdd BLAST217

Post-translational modificationi

PTM: Phosphorylated by PKA, PKC and MAPK.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9P2W1
MaxQBiQ9P2W1
PaxDbiQ9P2W1
PeptideAtlasiQ9P2W1
PRIDEiQ9P2W1
ProteomicsDBi83901
83902 [Q9P2W1-2]

PTM databases

iPTMnetiQ9P2W1
PhosphoSitePlusiQ9P2W1

Expressioni

Tissue specificityi

Highly expressed in testis and colon.2 Publications

Inductioni

Overexpressed in leiomyomas compared to myometrium.1 Publication

Gene expression databases

BgeeiENSG00000131470
CleanExiHS_PSMC3IP
ExpressionAtlasiQ9P2W1 baseline and differential
GenevisibleiQ9P2W1 HS

Organism-specific databases

HPAiHPA044439

Interactioni

Subunit structurei

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.By similarity2 Publications

Protein-protein interaction databases

BioGridi118945, 20 interactors
CORUMiQ9P2W1
IntActiQ9P2W1, 15 interactors
MINTiQ9P2W1
STRINGi9606.ENSP00000377384

Structurei

3D structure databases

ProteinModelPortaliQ9P2W1
SMRiQ9P2W1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni118 – 182DNA bindingBy similarityAdd BLAST65

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili93 – 153Sequence analysisAdd BLAST61

Sequence similaritiesi

Belongs to the HOP2 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4603 Eukaryota
ENOG410XT3U LUCA
GeneTreeiENSGT00390000006890
HOGENOMiHOG000005789
HOVERGENiHBG105257
InParanoidiQ9P2W1
KOiK06695
OMAiYRERQKY
OrthoDBiEOG091G0XHF
PhylomeDBiQ9P2W1
TreeFamiTF328666

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR010776 Hop2
IPR036388 WH-like_DNA-bd_sf
PANTHERiPTHR15938 PTHR15938, 1 hit
PfamiView protein in Pfam
PF07106 TBPIP, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P2W1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSKGRAEAAA GAAGILLRYL QEQNRPYSSQ DVFGNLQREH GLGKAVVVKT
60 70 80 90 100
LEQLAQQGKI KEKMYGKQKI YFADQDQFDM VSDADLQVLD GKIVALTAKV
110 120 130 140 150
QSLQQSCRYM EAELKELSSA LTTPEMQKEI QELKKECAGY RERLKNIKAA
160 170 180 190 200
TNHVTPEEKE QVYRERQKYC KEWRKRKRMA TELSDAILEG YPKSKKQFFE
210
EVGIETDEDY NVTLPDP
Length:217
Mass (Da):24,906
Last modified:October 1, 2000 - v1
Checksum:i892B7D20CAA0A121
GO
Isoform 2 (identifier: Q9P2W1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     113-124: Missing.

Show »
Length:205
Mass (Da):23,636
Checksum:i19AD8471B6931FC1
GO
Isoform 3 (identifier: Q9P2W1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-125: Missing.

Show »
Length:92
Mass (Da):11,070
Checksum:iABBF9881ED662F38
GO

Sequence cautioni

The sequence AAC41915 differs from that shown. Reason: Frameshift at positions 174 and 184.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti8Missing in AAC41915 (PubMed:7490091).Curated1
Sequence conflicti106S → T in AAC41915 (PubMed:7490091).Curated1
Sequence conflicti106S → T in AAL33609 (PubMed:11739747).Curated1
Sequence conflicti184S → L in AAL33609 (PubMed:11739747).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037841163Y → N. Corresponds to variant dbSNP:rs2292754EnsemblClinVar.1
Natural variantiVAR_066636201Missing in ODG3; impairs function as estrogen receptor coactivator. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0477161 – 125Missing in isoform 3. 1 PublicationAdd BLAST125
Alternative sequenceiVSP_030213113 – 124Missing in isoform 2. 1 PublicationAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L38933 mRNA Translation: AAC41915.1 Frameshift.
AB030304 mRNA Translation: BAA92872.1
AF440240 mRNA Translation: AAL33609.1
FJ952180 mRNA Translation: ACR46655.1
FJ952181 mRNA Translation: ACR46656.1
FJ952182 mRNA Translation: ACR46657.1
FJ952183 mRNA Translation: ACR46658.1
GQ851964 mRNA Translation: ACX30903.1
GQ851965 mRNA Translation: ACX30904.1
AC067852 Genomic DNA No translation available.
BC008792 mRNA Translation: AAH08792.1
CCDSiCCDS11431.1 [Q9P2W1-2]
CCDS45688.1 [Q9P2W1-1]
PIRiI68521
RefSeqiNP_001242943.1, NM_001256014.1
NP_001242944.1, NM_001256015.1
NP_001242945.1, NM_001256016.1
NP_037422.2, NM_013290.6 [Q9P2W1-2]
NP_057640.1, NM_016556.3 [Q9P2W1-1]
UniGeneiHs.383019

Genome annotation databases

EnsembliENST00000253789; ENSP00000253789; ENSG00000131470 [Q9P2W1-2]
ENST00000393795; ENSP00000377384; ENSG00000131470 [Q9P2W1-1]
ENST00000590760; ENSP00000466381; ENSG00000131470 [Q9P2W1-3]
GeneIDi29893
KEGGihsa:29893
UCSCiuc002iai.4 human [Q9P2W1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHOP2_HUMAN
AccessioniPrimary (citable) accession number: Q9P2W1
Secondary accession number(s): C5ILB7
, Q14458, Q8WXG2, Q96HA2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 1, 2000
Last modified: June 20, 2018
This is version 117 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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