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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
  • Homologous-Pairing Protein 2 Homolog 3
  • 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 46Xx Sex Reversal 1. Among its related pathways are Meiosis and Androgen receptor signaling pathway. 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.

Additional gene information for PSMC3IP Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H043314 1.6 Ensembl ENCODE dbSUPER 16 -738.1 -738082 2.6 HNRNPUL1 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF302 ZNF143 ZNF207 NBR2 DHX8 ASB16-AS1 HMGN1P29 TMUB2 LINC00910 PLEKHH3 RPL27 PSMC3IP NBR1
GH17H041649 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +923.2 923186 9.8 HDGF ARNT ZNF133 YBX1 BRCA1 TCF12 GLIS2 ZNF207 ATF7 RUNX3 ENSG00000267758 JUP HSD17B1 DHX58 GHDC ENSG00000259623 KRT14 CNP PSMC3IP RETREG3
GH17H043322 1.7 Ensembl ENCODE dbSUPER 13.1 -745.3 -745332 1.6 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 NFYC ENSG00000267340 UBTF ASB16-AS1 ENSG00000267002 DHX8 HMGN1P29 TMUB2 NBR2 PLEKHH3 LINC00910
GH17H043366 1.7 Ensembl ENCODE dbSUPER 13.1 -790.9 -790884 4 HNRNPUL1 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 DHX8 NBR2 HMGN1P29 ASB16-AS1 LINC00910 TMUB2 UBTF ENSG00000267340 PSME3 NBR1
GH17H041687 1.7 Ensembl ENCODE dbSUPER 13.1 +887.4 887433 6.1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 ENSG00000267758 ENSG00000259623 KLHL10 CNTNAP1 HSD17B1 NT5C3B KAT2A KLHL11 ACLY TMEM99
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000094431 -169 1601 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Locations for PSMC3IP Gene

Genomic Locations for PSMC3IP Gene
chr17:42,572,310-42,577,831
(GRCh38/hg38)
Size:
5,522 bases
Orientation:
Minus strand
chr17:40,724,329-40,729,849
(GRCh37/hg19)

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

Post-translational modifications for PSMC3IP Gene

No data available for DME Specific Peptides for PSMC3IP Gene

Domains & Families for PSMC3IP Gene

Gene Families for PSMC3IP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for PSMC3IP Gene

Gene Ontology (GO) - Molecular Function for PSMC3IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity IMP 21963259
genes like me logo Genes that share ontologies with PSMC3IP: view
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

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSMC3IP gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PSMC3IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
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 --
GO:0007131 reciprocal meiotic recombination IEA --
GO:0051321 meiotic cell cycle IEA --
GO:1903506 regulation of nucleic acid-templated transcription 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, Investigational Pharma inhibitor, other Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 814
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PSMC3IP Gene



Protein tissue co-expression partners for PSMC3IP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PSMC3IP Gene:

PSMC3IP

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.

Evidence on tissue expression from TISSUES for PSMC3IP Gene

  • Skin(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMC3IP Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
Organs:
Head and neck:
  • brain
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PSMC3IP: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia PSMC3IP 33 34
  • 99.23 (n)
cow
(Bos Taurus)
Mammalia PSMC3IP 34
  • 91 (a)
OneToOne
LOC789362 33
  • 90.48 (n)
dog
(Canis familiaris)
Mammalia PSMC3IP 33 34
  • 90.63 (n)
mouse
(Mus musculus)
Mammalia Psmc3ip 33 16 34
  • 87.25 (n)
rat
(Rattus norvegicus)
Mammalia Psmc3ip 33
  • 87.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 36 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves PSMC3IP 34
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSMC3IP 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmc3ip 33
  • 69.31 (n)
Str.12185 33
zebrafish
(Danio rerio)
Actinopterygii psmc3ip 33 34
  • 69.49 (n)
Dr.24770 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5676 33
thale cress
(Arabidopsis thaliana)
eudicotyledons AHP2 33
  • 48.91 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToOne
Species where no ortholog for PSMC3IP was found in the sources mined by GeneCards:
  • 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
rs1000122210 -- 42,578,818(+) GAGCA(C/G)CTGTC upstream-variant-2KB
rs1000627953 -- 42,579,617(+) AAACA(A/C)CTTCC nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs1000841194 -- 42,573,037(+) ACAGG(A/G)AGACA intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1000890947 -- 42,573,578(+) TTTCT(C/T)TCTGC nc-transcript-variant, downstream-variant-500B, reference, missense
rs1001246946 -- 42,579,036(+) CAGGA(A/G)ATCGA intron-variant, downstream-variant-500B, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159
nsv1064012 CNV gain 25217958
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

Human Gene Mutation Database (HGMD)
PSMC3IP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ovarian dysgenesis 3
  • odg3
46xx sex reversal 1
  • 46,xx testicular disorder of sex development
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 22 60
  2. Identification and characterization of a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors. (PMID: 11739747) Ko L … Chin WW (Molecular and cellular biology 2002) 2 3 4 60
  3. Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21. (PMID: 7490091) Rommens JM … Morgan K (Genomics 1995) 2 3 4 60
  4. XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. (PMID: 21963259) Zangen D … Levy-Lahad E (American journal of human genetics 2011) 3 4 60
  5. 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 22 60

Products for PSMC3IP Gene

Sources for PSMC3IP Gene

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