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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 46,Xx Sex Reversal 1. Among its related pathways are Meiosis and Androgen receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

GeneHancer (GH) Regulatory Elements for PSMC3IP Gene

Promoters and enhancers for PSMC3IP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I042576 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.4 -353 4.2 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 GC17P042577 GC17P042580 PSMC3IP DHX8 HMGN1P29 ENSG00000267758 TUBG2 NBR2 MLX STAT5A
GH17I042535 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.6 +41.2 41231 3.1 CLOCK MLX DMAP1 SLC30A9 ZNF213 E2F8 SP3 NFYC MEF2D SSRP1 NAGLU ENSG00000266929 ENSG00000267340 PLEKHH3 MLX HMGN1P29 NBR2 ENSG00000267002 PSMC3IP DHX58
GH17I041687 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 13.1 +887.4 887432 6.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 EIF1 GC17P041691 GC17P041692 ENSG00000267758 ENSG00000259623 KLHL10 CNTNAP1 NT5C3B STAT5A CCR10
GH17I042551 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.7 +24.2 24154 4.3 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B HSD17B1 LOC108783654 TUBG2 PSMC3IP MLX KLHL10 ENSG00000267340 STAT5A ENSG00000266929
GH17I042386 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.1 +189.4 189383 4.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 STAT3 GC17M042386 ENSG00000267765 ENSG00000267002 ENSG00000259623 NBR1 CCR10 KAT2A CNTNAP1 KLHL10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PSMC3IP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PSMC3IP gene promoter:

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

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 826
carfilzomib Approved, Investigational 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

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
Regions:
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

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 Variation AA Info Type
rs8080342 benign, not specified 42,577,312(-) G/A intron_variant
rs1000122210 -- 42,578,818(-) G/C upstream_transcript_variant
rs1000627953 -- 42,579,617(-) C/A upstream_transcript_variant
rs1000841194 -- 42,573,037(-) G/A intron_variant
rs1000890947 -- 42,573,578(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv33998 OTHER inversion 15654335
nsv1064012 CNV gain 25217958
nsv1146669 OTHER inversion 26484159

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)

Additional Variant Information 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, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ovarian dysgenesis 3
  • odg3
46,xx sex reversal 1
  • srxx1
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.

Additional Disease Information for PSMC3IP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  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 58
  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 58
  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 58

Products for PSMC3IP Gene

Sources for PSMC3IP Gene

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