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 References 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 References 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

TBPIP: Tat binding protein 1(TBP-1)-interacting protein (TBPIP) (12 - 180)

  • 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 References
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)
Cat. No. Product Name
Effect
Purity
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