Human Gene PSMC3IP (ENST00000393795.8_6) from GENCODE V47lift37
  Description: PSMC3 interacting protein, transcript variant 2 (from RefSeq NM_016556.4)
Gencode Transcript: ENST00000393795.8_6
Gencode Gene: ENSG00000131470.15_8
Transcript (Including UTRs)
   Position: hg19 chr17:40,724,328-40,729,747 Size: 5,420 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr17:40,724,986-40,729,704 Size: 4,719 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:40,724,328-40,729,747)mRNA (may differ from genome)Protein (217 aa)
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UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HOP2_HUMAN
DESCRIPTION: RecName: Full=Homologous-pairing protein 2 homolog; AltName: Full=Nuclear receptor coactivator GT198; AltName: Full=PSMC3-interacting protein; AltName: Full=Proteasome 26S ATPase subunit 3-interacting protein; AltName: Full=Tat-binding protein 1-interacting protein; Short=TBP-1-interacting protein;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Highly expressed in testis and colon.
INDUCTION: Overexpressed in leiomyomas compared to myometrium.
PTM: PTM: Phosphorylated by PKA, PKC and MAPK (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Defects in PSMC3IP are the cause of ovarian dysgenesis type 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.
SIMILARITY: Belongs to the HOP2 family.
SEQUENCE CAUTION: Sequence=AAC41915.1; Type=Frameshift; Positions=174, 184;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PSMC3IP
Diseases sorted by gene-association score: ovarian dysgenesis 3* (1019), 46xx sex reversal 1* (157), uterine hypoplasia (11), gonadal dysgenesis (8), perrault syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001564 Benzo(a)pyrene
  • D010634 Phenobarbital
  • D013749 Tetrachlorodibenzodioxin
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C009505 4,4'-diaminodiphenylmethane
  • C027576 4-hydroxy-2-nonenal
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.15 RPKM in Testis
Total median expression: 144.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.8043-0.228 Picture PostScript Text
3' UTR -193.50658-0.294 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010776 - TBPIP
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF03965 - Penicillinase repressor
PF07106 - TBPIP/Hop2 winged helix domain
PF18517 - Leucine zipper with capping helix domain

SCOP Domains:
46589 - tRNA-binding arm
47175 - Cytochromes
46785 - "Winged helix" DNA-binding domain
47655 - STAT
51338 - Composite domain of metallo-dependent hydrolases
64593 - Intermediate filament protein, coiled coil region
57997 - Tropomyosin

ModBase Predicted Comparative 3D Structure on Q9P2W1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity

Biological Process:
GO:0006310 DNA recombination
GO:0007131 reciprocal meiotic recombination
GO:0051321 meiotic cell cycle

Cellular Component:
GO:0005575 cellular_component
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  LF209347 - JP 2014500723-A/16850: Polycomb-Associated Non-Coding RNAs.
U18921 - Human chromosome 17q12-21 mRNA, clone pOV-4.
AK126369 - Homo sapiens cDNA FLJ44405 fis, clone TUTER2001461, highly similar to Homo sapiens mRNA for TBP-1 interacting protein.
AB030304 - Homo sapiens mRNA for TBP-1 interacting protein, complete cds.
L38933 - Homo sapiens GT198 mRNA, complete ORF.
BC008792 - Homo sapiens PSMC3 interacting protein, mRNA (cDNA clone MGC:3397 IMAGE:3621658), complete cds.
LF327889 - JP 2014500723-A/135392: Polycomb-Associated Non-Coding RNAs.
JD295370 - Sequence 276394 from Patent EP1572962.
JD386513 - Sequence 367537 from Patent EP1572962.
JD421310 - Sequence 402334 from Patent EP1572962.
JD322468 - Sequence 303492 from Patent EP1572962.
JD025640 - Sequence 6664 from Patent EP1572962.
JD028938 - Sequence 9962 from Patent EP1572962.
JD411715 - Sequence 392739 from Patent EP1572962.
JD535738 - Sequence 516762 from Patent EP1572962.
L77611 - Homo sapiens (clone SEL361) 17q YAC (368C7) RNA.
JD491808 - Sequence 472832 from Patent EP1572962.
JD491807 - Sequence 472831 from Patent EP1572962.
JD058133 - Sequence 39157 from Patent EP1572962.
AF440240 - Homo sapiens nuclear receptor coactivator GT198 mRNA, complete cds.
GQ851964 - Homo sapiens GT198 splice variant a (PSMC3IP) mRNA, complete cds, alternatively spliced.
GQ851965 - Homo sapiens GT198 splice variant a-4 (PSMC3IP) mRNA, complete cds, alternatively spliced.
FJ952179 - Homo sapiens GT198 (PSMC3IP) mRNA, complete cds, alternatively spliced.
FJ952180 - Homo sapiens GT198 alternative splice variant 1 (PSMC3IP) mRNA, complete cds, alternatively spliced.
FJ952181 - Homo sapiens GT198 alternative splice variant 2 (PSMC3IP) mRNA, complete cds, alternatively spliced.
FJ952182 - Homo sapiens GT198 alternative splice variant 3 (PSMC3IP) mRNA, complete cds, alternatively spliced.
FJ952183 - Homo sapiens GT198 alternative splice variant 4 (PSMC3IP) mRNA, complete cds, alternatively spliced.
AB528689 - Synthetic construct DNA, clone: pF1KB6919, Homo sapiens PSMC3IP gene for PSMC3 interacting protein, without stop codon, in Flexi system.
JD024564 - Sequence 5588 from Patent EP1572962.
JD029360 - Sequence 10384 from Patent EP1572962.
MA563466 - JP 2018138019-A/135392: Polycomb-Associated Non-Coding RNAs.
MA444924 - JP 2018138019-A/16850: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C5ILB7, ENST00000393795.1, ENST00000393795.2, ENST00000393795.3, ENST00000393795.4, ENST00000393795.5, ENST00000393795.6, ENST00000393795.7, HOP2, HOP2_HUMAN, NM_016556, Q14458, Q8WXG2, Q96HA2, Q9P2W1, TBPIP, uc318wdi.1, uc318wdi.2
UCSC ID: ENST00000393795.8_6
RefSeq Accession: NM_016556.4
Protein: Q9P2W1 (aka HOP2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.