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Aliases for PSMC3IP Gene

Aliases for PSMC3IP Gene

  • PSMC3 Interacting Protein 2 3 5
  • Proteasome 26S ATPase Subunit 3-Interacting Protein 3 4
  • Tat-Binding Protein 1-Interacting Protein 3 4
  • Nuclear Receptor Coactivator GT198 3 4
  • TBP-1-Interacting Protein 3 4
  • TBPIP 3 4
  • HOP2 3 4
  • TBP-1 Interacting Protein 2
  • PSMC3-Interacting Protein 4
  • DBD-Interacting 3
  • HUMGT198A 3
  • GT198 3
  • ODG3 3

External Ids for PSMC3IP Gene

Previous GeneCards Identifiers for PSMC3IP Gene

  • GC17M037979
  • GC17M040725
  • GC17M036488
  • GC17M040727
  • GC17M040733

Summaries for PSMC3IP Gene

Entrez Gene Summary for PSMC3IP Gene

  • 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 also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011]

GeneCards Summary for PSMC3IP Gene

PSMC3IP (PSMC3 Interacting Protein) is a Protein Coding gene. Diseases associated with PSMC3IP include ovarian dysgenesis 3 and 46,xx testicular disorder of sex development. Among its related pathways are Cell Cycle, Mitotic and Meiosis. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and ligand-dependent nuclear receptor transcription coactivator activity.

UniProtKB/Swiss-Prot for PSMC3IP Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMC3IP Gene

Genomics for PSMC3IP Gene

Regulatory Elements for PSMC3IP Gene

Enhancers for PSMC3IP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PSMC3IP on UCSC Golden Path with GeneCards custom track

Promoters for PSMC3IP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PSMC3IP on UCSC Golden Path with GeneCards custom track

Genomic Location for PSMC3IP Gene

Chromosome:
17
Start:
42,572,310 bp from pter
End:
42,577,831 bp from pter
Size:
5,522 bases
Orientation:
Minus strand

Genomic View for PSMC3IP Gene

Genes around PSMC3IP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMC3IP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMC3IP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMC3IP Gene

Proteins for PSMC3IP Gene

  • Protein details for PSMC3IP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2W1-HOP2_HUMAN
    Recommended name:
    Homologous-pairing protein 2 homolog
    Protein Accession:
    Q9P2W1
    Secondary Accessions:
    • C5ILB7
    • Q14458
    • Q8WXG2
    • Q96HA2

    Protein attributes for PSMC3IP Gene

    Size:
    217 amino acids
    Molecular mass:
    24906 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAC41915.1; Type=Frameshift; Positions=174, 184; Evidence={ECO:0000305};

    Alternative splice isoforms for PSMC3IP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMC3IP Gene

Proteomics data for PSMC3IP Gene at MOPED

Post-translational modifications for PSMC3IP Gene

No data available for DME Specific Peptides for PSMC3IP Gene

Domains & Families for PSMC3IP Gene

Protein Domains for PSMC3IP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSMC3IP Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2W1

UniProtKB/Swiss-Prot:

HOP2_HUMAN :
  • Belongs to the HOP2 family.
Family:
  • Belongs to the HOP2 family.
genes like me logo Genes that share domains with PSMC3IP: view

No data available for Gene Families for PSMC3IP Gene

Function for PSMC3IP Gene

Molecular function for PSMC3IP Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Overexpressed in leiomyomas compared to myometrium.
genes like me logo Genes that share phenotypes with PSMC3IP: view

Human Phenotype Ontology for PSMC3IP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PSMC3IP Gene

MGI Knock Outs for PSMC3IP:

Animal Model Products

CRISPR Products

miRNA for PSMC3IP Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PSMC3IP Gene

Localization for PSMC3IP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSMC3IP Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSMC3IP Gene COMPARTMENTS Subcellular localization image for PSMC3IP gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PSMC3IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with PSMC3IP: view

Pathways & Interactions for PSMC3IP Gene

genes like me logo Genes that share pathways with PSMC3IP: view

Pathways by source for PSMC3IP Gene

1 BioSystems pathway for PSMC3IP Gene
3 Reactome pathways for PSMC3IP Gene

Gene Ontology (GO) - Biological Process for PSMC3IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006310 DNA recombination IEA --
genes like me logo Genes that share ontologies with PSMC3IP: view

No data available for SIGNOR curated interactions for PSMC3IP Gene

Drugs & Compounds for PSMC3IP Gene

(2) Drugs for PSMC3IP Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bortezomib Approved, Experimental, Investigational Pharma inhibitor, other Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 776
carfilzomib Approved Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
genes like me logo Genes that share compounds with PSMC3IP: view

Transcripts for PSMC3IP Gene

Unigene Clusters for PSMC3IP Gene

PSMC3 interacting protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PSMC3IP Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6
SP1: - -
SP2: -
SP3:

Relevant External Links for PSMC3IP Gene

GeneLoc Exon Structure for
PSMC3IP
ECgene alternative splicing isoforms for
PSMC3IP

Expression for PSMC3IP Gene

mRNA expression in normal human tissues for PSMC3IP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSMC3IP Gene

This gene is overexpressed in Testis (x4.3).

Protein differential expression in normal tissues from HIPED for PSMC3IP Gene

This gene is overexpressed in Breast (54.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSMC3IP Gene



SOURCE GeneReport for Unigene cluster for PSMC3IP Gene Hs.383019

mRNA Expression by UniProt/SwissProt for PSMC3IP Gene

Q9P2W1-HOP2_HUMAN
Tissue specificity: Highly expressed in testis and colon.
genes like me logo Genes that share expression patterns with PSMC3IP: view

Protein tissue co-expression partners for PSMC3IP Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PSMC3IP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMC3IP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC789362 35
  • 90.48 (n)
  • 91.24 (a)
PSMC3IP 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSMC3IP 35
  • 90.63 (n)
  • 93.55 (a)
PSMC3IP 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psmc3ip 35
  • 87.25 (n)
  • 88.02 (a)
Psmc3ip 16
Psmc3ip 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PSMC3IP 35
  • 99.23 (n)
  • 98.62 (a)
PSMC3IP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psmc3ip 35
  • 87.25 (n)
  • 88.48 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
OneToMany
-- 36
  • 36 (a)
OneToMany
chicken
(Gallus gallus)
Aves PSMC3IP 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSMC3IP 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmc3ip 35
  • 69.31 (n)
  • 68.32 (a)
Str.12185 35
zebrafish
(Danio rerio)
Actinopterygii Dr.24770 35
psmc3ip 35
  • 69.49 (n)
  • 66.17 (a)
psmc3ip 36
  • 64 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5676 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AHP2 35
  • 48.91 (n)
  • 37.19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for PSMC3IP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PSMC3IP Gene

ENSEMBL:
Gene Tree for PSMC3IP (if available)
TreeFam:
Gene Tree for PSMC3IP (if available)

Paralogs for PSMC3IP Gene

No data available for Paralogs for PSMC3IP Gene

Variants for PSMC3IP Gene

Sequence variations from dbSNP and Humsavar for PSMC3IP Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_037841 -
rs1004295 -- 42,575,409(+) TACAG(C/G)CAGCC intron-variant
rs1106927 -- 42,575,504(+) GAATT(A/C/G)TCTTT intron-variant
rs878291 -- 42,576,211(-) TTCTG(A/G)TGTGT intron-variant
rs2292751 -- 42,573,781(-) GAGGA(A/G)GAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSMC3IP Gene

Variant ID Type Subtype PubMed ID
dgv3172n71 CNV Loss 21882294
esv33998 OTHER Inversion 15654335

Variation tolerance for PSMC3IP Gene

Residual Variation Intolerance Score: 59.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.75; 66.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSMC3IP Gene

HapMap Linkage Disequilibrium report
PSMC3IP
Human Gene Mutation Database (HGMD)
PSMC3IP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMC3IP Gene

Disorders for PSMC3IP Gene

MalaCards: The human disease database

(5) MalaCards diseases for PSMC3IP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ovarian dysgenesis 3
  • odg3
46,xx testicular disorder of sex development
  • 46,xx testicular dsd
uterine hypoplasia
gonadal dysgenesis
  • gonadal dysgenesis syndrome
perrault syndrome
  • gonadal dysgenesis, xx type
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HOP2_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for PSMC3IP

Genetic Association Database (GAD)
PSMC3IP
Human Genome Epidemiology (HuGE) Navigator
PSMC3IP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSMC3IP
genes like me logo Genes that share disorders with PSMC3IP: view

No data available for Genatlas for PSMC3IP Gene

Publications for PSMC3IP Gene

  1. Molecular cloning and characterization of a human homologue of TBPIP, a BRCA1 locus-related gene. (PMID: 10806355) Ijichi H. … Sato M. (Gene 2000) 2 3 4 23 67
  2. Tat-binding protein-1 (TBP-1), an ATPase of 19S regulatory particles of the 26S proteasome, enhances androgen receptor function in cooperation with TBP-1-interacting protein/Hop2. (PMID: 19325002) Satoh T. … Mori M. (Endocrinology 2009) 3 23
  3. Identification and characterization of a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors. (PMID: 11739747) Ko L. … Chin W.W. (Mol. Cell. Biol. 2002) 2 3
  4. Molecular cloning and characterization of a novel TBP-1 interacting protein (TBPIP):enhancement of TBP-1 action on Tat by TBPIP. (PMID: 9345291) Tanaka T. … Sato M. (Biochem. Biophys. Res. Commun. 1997) 3 23
  5. Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21. (PMID: 7490091) Rommens J.M. … Simard J. (Genomics 1995) 2 3

Products for PSMC3IP Gene

Sources for PSMC3IP Gene

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