PSMC3IP

Protein identityUniProt · HPA

UniProt accession

Q9P2W1

Gene

PSMC3IP

Ensembl

ENSG00000131470

Chromosome

17

Canonical length

217 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

217 residues, UniProt reviewed canonical sequence.

>Q9P2W1|PSMC3IP
     1  MSKGRAEAAA GAAGILLRYL QEQNRPYSSQ DVFGNLQREH GLGKAVVVKT LEQLAQQGKI
    61  KEKMYGKQKI YFADQDQFDM VSDADLQVLD GKIVALTAKV QSLQQSCRYM EAELKELSSA
   121  LTTPEMQKEI QELKKECAGY RERLKNIKAA TNHVTPEEKE QVYRERQKYC KEWRKRKRMA
   181  TELSDAILEG YPKSKKQFFE EVGIETDEDY NVTLPDP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PSMC3IP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

24 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PSMC3IP.

Disease | AllUniProt

Conditions PSMC3IP is implicated in, by any mechanism.

• Ovarian dysgenesis 3 (ODG3) MIM:614324

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 72 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ovarian dysgenesis 3
• 46 XX gonadal dysgenesis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.09

gnomAD pLI

0

gnomAD missense Z

-0.43

DepMap mean gene effect

-0.18

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• homologous chromosome pairing at meiosis
• reciprocal meiotic recombination
• meiotic joint molecule formation
• meiotic strand invasion involved in reciprocal meiotic recombination

Molecular functions

• double-stranded DNA binding
• transcription coactivator activity
• recombinase activator activity

Cellular components

• condensed nuclear chromosome
• nucleoplasm
• DNA recombinase auxiliary factor complex

Protein domainsUniProt · Pfam · InterPro

• Winged helix-like DNA-binding domain superfamily
• Leucine zipper with capping helix domain
• Leucine zipper with capping helix domain
• Homologous-pairing protein 2, winged helix domain
• TBPIP/Hop2 winged helix domain

KeywordsUniProt

• Coiled coil
• DNA recombination
• DNA-binding
• Meiosis
• Nucleus
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of PSMC3IP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RXRA
• THRB
• MND1