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PSMC3IP - PSMC3 interacting protein Gene

Also Known as HOP2; ODG3; GT198; TBPIP; HUMGT198A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29893

About PSMC3IP

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,572,310-42,577,831 (from NCBI)

This gene has 9 transcripts (splice variants), 200 orthologues and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 12.8), small intestine (RPKM 12.7) and 25 other tissues.

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]

PSMC3IP Products (5)

mRNA	Protein	Name
NM_001256014.2	NP_001242943.1	homologous-pairing protein 2 homolog isoform 3
NM_001256015.2	NP_001242944.1	homologous-pairing protein 2 homolog isoform 4
NM_001256016.2	NP_001242945.1	homologous-pairing protein 2 homolog isoform 4
NM_013290.7	NP_037422.2	homologous-pairing protein 2 homolog isoform 1
NM_016556.4	NP_057640.1	homologous-pairing protein 2 homolog isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Referencias	Source
enables nuclear receptor coactivator activity	IMP IMP: Inferred from mutant phenotype	21963259	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16407260	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in homologous chromosome pairing at meiosis	IDA IDA: Inferred from direct assay	16407260	GOA
involved in reciprocal meiotic recombination	IDA IDA: Inferred from direct assay	16407260	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PSMC3IP Protein Structure

TBPIP

0
100
200
217 a.a.

Protein Preferred Names	Protein Names
homologous-pairing protein 2 homolog	DBD-interacting

PSMC3IP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	PSMC3IP	Q9P2W1	MND1	Homo sapiens	Q9BWT6	Anti Tag CoIP	35271311
Intra	PSMC3IP	Q9P2W1	MND1	Homo sapiens	Q9BWT6	GMS	16407260
Intra	PSMC3IP	Q9P2W1	MND1	Homo sapiens	Q9BWT6	Chromatography	16407260
Intra	PSMC3IP	Q9P2W1	MND1	Homo sapiens	Q9BWT6	Solution Sedimentation	16407260

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Ovarian Dysgenesis 3	ODG3 Dysgenesis, Ovarian, Type 3
46,Xx Sex Reversal 1	46,Xx Testicular Disorder Of Sex Development 46,Xx Gonadal Dysgenesis SRXX1 46,Xx Gonadal Dysgenesis, Complete, Sry-Positive 46,Xx Testicular Dsd Xx Male Syndrome 46,Xx Complete Gonadal Dysgenesis 46,Xx Pure Gonadal Dysgenesis Follicular Stimulating Hormone-Resistant Ovaries Hypergonadotropic Ovarian Dysgenesis Ovotesticular Disorder Of Sex Development 46,Xx Sex Reversal, Sry-Positive Xx Male, Sry-Positive 46xx Sex Reversal 1 46, Xx Gonadal Sex Reversal Xx Sex Reversal 46,Xx Ovarian Dysgenesis Fsh-Ro Xx Female Gonadal Dysgenesis Xx-Gd 46,Xx Ovotesticular Disorder Of Sex Development 46,Xx Ovotesticular Dsd De La Chapelle Syndrome Xx, Male Syndrome 46,Xx Gonadal Dysgenesis Complete Sry-Positive 46,Xx Sex Reversal Sry-Positive 46,Xx True Hermaphroditism Sry-Positive Ovotesticular Dsd Xx Male Sry-Positive Ovotesticular Disorders Of Sex Development 46, Xx Testicular Disorders Of Sex Development Resistant Ovary Syndrome Dysgenetic Ovaries Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries] True Hermaphroditism Ovotestis True Hermaphrodite
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Uterine Hypoplasia
Granulomatous Disease, Chronic, Autosomal Recessive, 3	CGD3 Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Iii Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 3 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii Cgd, Autosomal Recessive Cytochrome B-Positive, Type Iii Granulomatous Disease, Chronic, Due To Ncf4 Deficiency Chronic Granulomatous Disease 3, Autosomal Recessive Autosomal Recessive Chronic Granulomatous Disease 3 Autosomal Recessive Cytochrome B-Positive Cgd Type Iii Cdg3 Chronic Granulomatous Disease Due To Ncf4 Deficiency Cgd Autosomal Recessive Cytochrome B-Positive Type Iii Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii Granulomatous Disease Chronic Due To Ncf4 Deficiency Granulomatous Disease, Chronic, Autosomal Recessive Cytochrome B-Positive, Type 3
46 Xx Gonadal Dysgenesis	Ovarian Dysgenesis Gonadal Dysgenesis, 46,Xx Dysgenesis, Ovarian
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS11313	PSMC3IP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PSMC3IP	VGNC	VGNC:64414
Rattus norvegicus	PSMC3IP	RGD	RGD:621885
Canis familiaris	PSMC3IP	VGNC	VGNC:45103
Macaca mulatta	PSMC3IP	VGNC	VGNC:76282
Bos taurus	PSMC3IP	VGNC	VGNC:33457
Mus musculus	PSMC3IP	MGD	MGI:1098610
Others	PSMC3IP	NCBI