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PSMC3IP PSMC3 interacting protein [ Homo sapiens (human) ]

Gene ID: 29893, updated on 2-Nov-2024

Summary

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Official Symbol
PSMC3IPprovided by HGNC
Official Full Name
PSMC3 interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:17928
See related
Ensembl:ENSG00000131470 MIM:608665; AllianceGenome:HGNC:17928
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HOP2; ODG3; GT198; TBPIP; HUMGT198A
Summary
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]
Expression
Ubiquitous expression in duodenum (RPKM 12.8), small intestine (RPKM 12.7) and 25 other tissues See more
Orthologs
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Genomic context

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See PSMC3IP in Genome Data Viewer
Location:
17q21.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42572310..42577831, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43429498..43434985, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40724328..40729849, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene HSD17B1 promoter Neighboring gene HSD17B1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40706585-40707152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40707968-40708515 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40717370-40717876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40717877-40718383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40719397-40719904 Neighboring gene Coenzyme A synthase Neighboring gene MAX dimerization protein MLX Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12210 Neighboring gene reticulophagy regulator family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12211 Neighboring gene tubulin gamma 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency. Norling A, et al. Sex Dev, 2014. PMID 24481226
  2. Human ovarian cancer stroma contains luteinized theca cells harboring tumor suppressor gene GT198 mutations. Peng M, et al. J Biol Chem, 2013 Nov 15. PMID 24097974, Free PMC Article
  3. Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency. Mei L, et al. Mol Med Rep, 2022 Feb. PMID 34878148
  4. Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation. Al-Agha AE, et al. J Clin Endocrinol Metab, 2018 Feb 1. PMID 29240891, Free PMC Article
  5. Knockdown of PSMC3IP suppresses the proliferation and xenografted tumorigenesis of hepatocellular carcinoma cell. Ding J, et al. J Cell Biochem, 2019 Apr. PMID 30362169

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency.
    Title: Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency.
  2. Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L.
    Title: Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L.
  3. targeting PSMC3IP maybe a promising strategy for Hepatocellular carcinoma.
    Title: Knockdown of PSMC3IP suppresses the proliferation and xenografted tumorigenesis of hepatocellular carcinoma cell.
  4. Pathogenic variant in PSMC3IP gene is associated with premature ovarian insufficiency.
    Title: Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
  5. The PSMC3IP mutation provides additional evidence that mutations in meiotic homologous recombination and DNA repair genes result in distinct female and male reproductive phenotypes, including delayed puberty and primary amenorrhea caused by Primary ovarian insufficiency (XX gonadal dysgenesis) in females but isolated azoospermia with normal pubertal development in males.
    Title: Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.
  6. PSMC3IP gene mutations are not common causes of primary ovarian insufficiency in this Swedish cohort.
    Title: No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency.
  7. GT198 mutant luteinized theca cells overexpressing CYP17 are common in ovarian cancer stroma.
    Title: Human ovarian cancer stroma contains luteinized theca cells harboring tumor suppressor gene GT198 mutations.
  8. a PSMC3IP/HOP2 mutation may cause XX ovarian dysgenesis through abolishing coactivation of estrogen-driven transcription
    Title: XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
  9. findings suggest that a component of 19S regulatory particles directly binds AR and might participate in AR-mediated transcriptional activation in cooperation with TBPIP.
    Title: 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.
  10. Identification of GT198 (TBPIP/Hop2) as a nuclear receptor coactivator. GT198 is phosphorylation regulated. GT198 interacts with nuclear receptors.
    Title: Identification and characterization of a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Ovarian dysgenesis 3
MedGen: C3280471 OMIM: 614324 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat TBPIP is a cellular protein that interacts with Tat-binding protein-1 (TBP-1) and enhances the inhibitory action of TBP-1 on Tat-mediated transactivation of the HIV-1 LTR promoter PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear receptor coactivator activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables recombinase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in homologous chromosome pairing at meiosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in homologous chromosome pairing at meiosis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in meiotic joint molecule formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in meiotic strand invasion involved in reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in reciprocal meiotic recombination IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of DNA recombinase auxiliary factor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in condensed nuclear chromosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
homologous-pairing protein 2 homolog
Names
DBD-interacting
TBP-1-interacting protein
nuclear receptor coactivator GT198
proteasome 26S ATPase subunit 3-interacting protein
tat-binding protein 1-interacting protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031960.1 RefSeqGene

    Range
    5103..10522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256014.2 → NP_001242943.1  homologous-pairing protein 2 homolog isoform 3

    See identical proteins and their annotated locations for NP_001242943.1

    Status: REVIEWED

    Source sequence(s)
    AC067852
    Consensus CDS
    CCDS59289.1
    UniProtKB/TrEMBL
    K7ERB6
    Related
    ENSP00000468188.1, ENST00000587209.5
    Conserved Domains (1) summary
    pfam07106
    Location:1 → 118
    TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)

  2. NM_001256015.2 → NP_001242944.1  homologous-pairing protein 2 homolog isoform 4

    See identical proteins and their annotated locations for NP_001242944.1

    Status: REVIEWED

    Source sequence(s)
    AC067852
    UniProtKB/Swiss-Prot
    Q9P2W1
    Conserved Domains (1) summary
    pfam07106
    Location:1 → 102
    TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)

  3. NM_001256016.2 → NP_001242945.1  homologous-pairing protein 2 homolog isoform 4

    See identical proteins and their annotated locations for NP_001242945.1

    Status: REVIEWED

    Source sequence(s)
    AC067852
    UniProtKB/Swiss-Prot
    Q9P2W1
    Conserved Domains (1) summary
    pfam07106
    Location:1 → 102
    TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)

  4. NM_013290.7 → NP_037422.2  homologous-pairing protein 2 homolog isoform 1

    See identical proteins and their annotated locations for NP_037422.2

    Status: REVIEWED

    Source sequence(s)
    AC067852
    Consensus CDS
    CCDS11431.1
    Related
    ENSP00000253789.4, ENST00000253789.9
    Conserved Domains (1) summary
    pfam07106
    Location:16 → 169
    TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)

  5. NM_016556.4 → NP_057640.1  homologous-pairing protein 2 homolog isoform 2

    See identical proteins and their annotated locations for NP_057640.1

    Status: REVIEWED

    Source sequence(s)
    AC067852
    Consensus CDS
    CCDS45688.1
    UniProtKB/Swiss-Prot
    C5ILB7, Q14458, Q8WXG2, Q96HA2, Q9P2W1
    UniProtKB/TrEMBL
    A0A158RUX1
    Related
    ENSP00000377384.2, ENST00000393795.8
    Conserved Domains (1) summary
    pfam07106
    Location:16 → 181
    TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)

RNA

  1. NR_045669.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BC008792, BQ186038, FJ952181

  2. NR_045670.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BC008792, BQ186038, FJ952183

  3. NR_045671.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC067852

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42572310..42577831 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43429498..43434985 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2W1.1 GenPept UniProtKB/Swiss-Prot:Q9P2W1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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