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Q9P2W1

- HOP2_HUMAN

UniProt

Q9P2W1 - HOP2_HUMAN

Protein

Homologous-pairing protein 2 homolog

Gene

PSMC3IP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    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

    1. DNA binding Source: UniProtKB-KW
    2. ligand-dependent nuclear receptor transcription coactivator activity Source: UniProtKB

    GO - Biological processi

    1. DNA recombination Source: UniProtKB-KW
    2. meiotic nuclear division Source: UniProtKB-KW
    3. regulation of RNA biosynthetic process Source: GOC

    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: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:17928. PSMC3IP.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.

    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

    ArrayExpressiQ9P2W1.
    BgeeiQ9P2W1.
    CleanExiHS_PSMC3IP.
    GenevestigatoriQ9P2W1.

    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. 2 interactions.
    MINTiMINT-4945099.
    STRINGi9606.ENSP00000377384.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9P2W1.
    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.
    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. Align

    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

    MSKGRAEAAA GAAGILLRYL QEQNRPYSSQ DVFGNLQREH GLGKAVVVKT    50
    LEQLAQQGKI KEKMYGKQKI YFADQDQFDM VSDADLQVLD GKIVALTAKV 100
    QSLQQSCRYM EAELKELSSA LTTPEMQKEI QELKKECAGY RERLKNIKAA 150
    TNHVTPEEKE QVYRERQKYC KEWRKRKRMA TELSDAILEG YPKSKKQFFE 200
    EVGIETDEDY NVTLPDP 217
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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]

    Polymorphism databases

    DMDMi74719969.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS11431.1. [Q9P2W1-2 ]
    CCDS45688.1. [Q9P2W1-1 ]
    PIRi I68521.
    RefSeqi NP_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 ]
    UniGenei Hs.383019.

    3D structure databases

    ProteinModelPortali Q9P2W1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118945. 2 interactions.
    MINTi MINT-4945099.
    STRINGi 9606.ENSP00000377384.

    PTM databases

    PhosphoSitei Q9P2W1.

    Polymorphism databases

    DMDMi 74719969.

    Proteomic databases

    MaxQBi Q9P2W1.
    PaxDbi Q9P2W1.
    PRIDEi Q9P2W1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000253789 ; ENSP00000253789 ; ENSG00000131470 . [Q9P2W1-2 ]
    ENST00000393795 ; ENSP00000377384 ; ENSG00000131470 . [Q9P2W1-1 ]
    ENST00000590760 ; ENSP00000466381 ; ENSG00000131470 . [Q9P2W1-3 ]
    GeneIDi 29893.
    KEGGi hsa:29893.
    UCSCi uc002iai.3. human. [Q9P2W1-1 ]
    uc002iak.3. human. [Q9P2W1-2 ]

    Organism-specific databases

    CTDi 29893.
    GeneCardsi GC17M040733.
    HGNCi HGNC:17928. PSMC3IP.
    HPAi HPA044439.
    MIMi 608665. gene.
    614324. phenotype.
    neXtProti NX_Q9P2W1.
    Orphaneti 243. 46,XX gonadal dysgenesis.
    PharmGKBi PA143485584.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG274440.
    HOGENOMi HOG000005789.
    HOVERGENi HBG105257.
    InParanoidi Q9P2W1.
    KOi K06695.
    OMAi DEDYNVK.
    OrthoDBi EOG7GJ6FN.
    PhylomeDBi Q9P2W1.
    TreeFami TF328666.

    Enzyme and pathway databases

    Reactomei REACT_27271. Meiotic recombination.

    Miscellaneous databases

    GenomeRNAii 29893.
    NextBioi 52446.
    PROi Q9P2W1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9P2W1.
    Bgeei Q9P2W1.
    CleanExi HS_PSMC3IP.
    Genevestigatori Q9P2W1.

    Family and domain databases

    InterProi IPR010776. TBPIP.
    [Graphical view ]
    PANTHERi PTHR15938. PTHR15938. 1 hit.
    Pfami PF07106. TBPIP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 88 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