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Protein

Homologous-pairing protein 2 homolog

Gene

PSMC3IP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • DNA recombination Source: UniProtKB-KW
  • meiotic cell cycle Source: UniProtKB-KW
  • regulation of nucleic acid-templated transcription Source: GOC
Complete GO annotation...

Keywords - Biological processi

DNA recombination, Meiosis

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_27271. 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
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:17928. PSMC3IP.

Subcellular locationi

  • Nucleus 1 Publication

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti201 – 2011Missing in ODG3; impairs function as estrogen receptor coactivator. 1 Publication
VAR_066636

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614324. phenotype.
Orphaneti243. 46,XX gonadal dysgenesis.
PharmGKBiPA143485584.

Polymorphism and mutation databases

BioMutaiPSMC3IP.
DMDMi74719969.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 217217Homologous-pairing protein 2 homologPRO_0000314135Add
BLAST

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9P2W1.
PaxDbiQ9P2W1.
PRIDEiQ9P2W1.

PTM databases

PhosphoSiteiQ9P2W1.

Expressioni

Tissue specificityi

Highly expressed in testis and colon.2 Publications

Inductioni

Overexpressed in leiomyomas compared to myometrium.1 Publication

Gene expression databases

BgeeiQ9P2W1.
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. 3 interactions.
IntActiQ9P2W1. 14 interactions.
MINTiMINT-4945099.
STRINGi9606.ENSP00000377384.

Structurei

3D structure databases

ProteinModelPortaliQ9P2W1.
SMRiQ9P2W1. Positions 11-74.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni118 – 18265DNA bindingBy similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili93 – 15361Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the HOP2 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG274440.
GeneTreeiENSGT00390000006890.
HOGENOMiHOG000005789.
HOVERGENiHBG105257.
InParanoidiQ9P2W1.
KOiK06695.
OMAiDEDYNVK.
OrthoDBiEOG7GJ6FN.
PhylomeDBiQ9P2W1.
TreeFamiTF328666.

Family and domain databases

InterProiIPR010776. TBPIP.
[Graphical view]
PANTHERiPTHR15938. PTHR15938. 1 hit.
PfamiPF07106. TBPIP. 1 hit.
[Graphical view]

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 AAC41915.1 differs from that shown. Reason: Frameshift at positions 174 and 184. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti8 – 81Missing in AAC41915 (PubMed:7490091).Curated
Sequence conflicti106 – 1061S → T in AAC41915 (PubMed:7490091).Curated
Sequence conflicti106 – 1061S → T in AAL33609 (PubMed:11739747).Curated
Sequence conflicti184 – 1841S → L in AAL33609 (PubMed:11739747).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti163 – 1631Y → N.
Corresponds to variant rs2292754 [ dbSNP | Ensembl ].
VAR_037841
Natural varianti201 – 2011Missing in ODG3; impairs function as estrogen receptor coactivator. 1 Publication
VAR_066636

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 125125Missing in isoform 3. 1 PublicationVSP_047716Add
BLAST
Alternative sequencei113 – 12412Missing in isoform 2. 1 PublicationVSP_030213Add
BLAST

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.3. human. [Q9P2W1-1]
uc002iak.3. human. [Q9P2W1-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9P2W1.
SMRiQ9P2W1. Positions 11-74.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118945. 3 interactions.
IntActiQ9P2W1. 14 interactions.
MINTiMINT-4945099.
STRINGi9606.ENSP00000377384.

PTM databases

PhosphoSiteiQ9P2W1.

Polymorphism and mutation databases

BioMutaiPSMC3IP.
DMDMi74719969.

Proteomic databases

MaxQBiQ9P2W1.
PaxDbiQ9P2W1.
PRIDEiQ9P2W1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253789; ENSP00000253789; ENSG00000131470. [Q9P2W1-2]
ENST00000393795; ENSP00000377384; ENSG00000131470. [Q9P2W1-1]
ENST00000590760; ENSP00000466381; ENSG00000131470. [Q9P2W1-3]
GeneIDi29893.
KEGGihsa:29893.
UCSCiuc002iai.3. human. [Q9P2W1-1]
uc002iak.3. human. [Q9P2W1-2]

Organism-specific databases

CTDi29893.
GeneCardsiGC17M040733.
HGNCiHGNC:17928. PSMC3IP.
HPAiHPA044439.
MIMi608665. gene.
614324. phenotype.
neXtProtiNX_Q9P2W1.
Orphaneti243. 46,XX gonadal dysgenesis.
PharmGKBiPA143485584.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG274440.
GeneTreeiENSGT00390000006890.
HOGENOMiHOG000005789.
HOVERGENiHBG105257.
InParanoidiQ9P2W1.
KOiK06695.
OMAiDEDYNVK.
OrthoDBiEOG7GJ6FN.
PhylomeDBiQ9P2W1.
TreeFamiTF328666.

Enzyme and pathway databases

ReactomeiREACT_27271. Meiotic recombination.

Miscellaneous databases

ChiTaRSiPSMC3IP. human.
GenomeRNAii29893.
NextBioi52446.
PROiQ9P2W1.
SOURCEiSearch...

Gene expression databases

BgeeiQ9P2W1.
CleanExiHS_PSMC3IP.
ExpressionAtlasiQ9P2W1. baseline and differential.
GenevisibleiQ9P2W1. HS.

Family and domain databases

InterProiIPR010776. TBPIP.
[Graphical view]
PANTHERiPTHR15938. PTHR15938. 1 hit.
PfamiPF07106. TBPIP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21."
    Rommens J.M., Durocher F., McArthur J., Tonin P., Leblanc J.-F., Allen T., Samson C., Ferri L., Narod S., Morgan K., Simard J.
    Genomics 28:530-542(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  2. "Molecular cloning and characterization of a human homologue of TBPIP, a BRCA1 locus-related gene."
    Ijichi H., Tanaka T., Nakamura T., Yagi H., Hakuba A., Sato M.
    Gene 248:99-107(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH PSMC3.
  3. "Alternative splicing of GT198 in the BRCA1 locus."
    Peng M., Ko L.
    Submitted (AUG-2009) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), ALTERNATIVE SPLICING.
  4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    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.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "Identification and characterization of a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors."
    Ko L., Cardona G.R., Henrion-Caude A., Chin W.W.
    Mol. Cell. Biol. 22:357-369(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Uterus.
  7. "Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1 complex."
    Enomoto R., Kinebuchi T., Sato M., Yagi H., Kurumizaka H., Yokoyama S.
    J. Biol. Chem. 281:5575-5581(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MND1, FUNCTION.
  8. "Genomic and proteomic profiling I: leiomyomas in African Americans and Caucasians."
    Pan Q., Luo X., Chegini N.
    Reprod. Biol. Endocrinol. 5:34-34(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION.
  9. "XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription."
    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.
    Am. J. Hum. Genet. 89:572-579(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, VARIANT ODG3 GLU-201 DEL, CHARACTERIZATION OF VARIANT ODG3 GLU-201 DEL.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiHOP2_HUMAN
AccessioniPrimary (citable) accession number: Q9P2W1
Secondary accession number(s): C5ILB7
, Q14458, Q8WXG2, Q96HA2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 1, 2000
Last modified: June 24, 2015
This is version 93 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.