PSMC3IP PSMC3 interacting protein [Homo sapiens (human)] - Gene

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
targeting PSMC3IP maybe a promising strategy for Hepatocellular carcinoma.
Title: Knockdown of PSMC3IP suppresses the proliferation and xenografted tumorigenesis of hepatocellular carcinoma cell.
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.
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.
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.
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.
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.
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.
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)

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

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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

STS-U18014 (e-PCR)
- UniSTS:9742

G43000 (e-PCR)
- UniSTS:94869

D17S1663 (e-PCR)
- UniSTS:71579

D17S1440E (e-PCR)
- UniSTS:150479

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

NG_031960.1 RefSeqGene

Range

5103..10522

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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)
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)
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

NR_045669.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

BC008792, BQ186038, FJ952181
NR_045670.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

BC008792, BQ186038, FJ952183
NR_045671.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC067852