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    PSMC3IP PSMC3 interacting protein [ Homo sapiens (human) ]

    Gene ID: 29893, updated on 5-Mar-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
    mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42572310..42577831, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43429498..43434985, complement)
    105.20220307 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
    • 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. 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
    2. Knockdown of PSMC3IP suppresses the proliferation and xenografted tumorigenesis of hepatocellular carcinoma cell. Ding J, et al. J Cell Biochem, 2019 Apr. PMID 30362169
    3. 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
    4. 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
    5. 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

    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
    		Compare labs

    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_2023_10

    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.

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