2. Gene
  3. PSMC3IP - PSMC3 interacting protein Gene

PSMC3IP - PSMC3 interacting protein Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：PSMC3 相互作用蛋白

种属: Homo sapiens

同用名: HOP2; ODG3; GT198; TBPIP; HUMGT198A

基因 ID: 29893 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种在减数分裂重组中起作用的蛋白质。它是 PSMC3IP/MND1 复合体的一个亚基，与 PSMC3/TBP1 相互作用，在减数分裂过程中刺激 DMC1 和 RAD51 介导的链交换。该基因编码的蛋白质还可以共同激活由雌激素、雄激素、糖皮质激素、黄体酮和甲状腺核受体介导的配体驱动的转录。该基因的突变导致 XX 女性性腺发育不全。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2011 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables nuclear receptor coactivator activity IMP
IMP: 通过突变表型推断
21963259 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16407260 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in homologous chromosome pairing at meiosis IDA
IDA: 通过直接分析推断
16407260 GOA
involved in reciprocal meiotic recombination IDA
IDA: 通过直接分析推断
16407260 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PSMC3IP 蛋白结构

TBPIP

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

  • 0
  • 100
  • 200
  • 217 a.a.
蛋白主名 其他名称

homologous-pairing protein 2 homolog

DBD-interacting

PSMC3IP 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PSMC3IP Q9P2W1 MND1 Homo sapiens Q9BWT6
Anti Tag CoIP
35271311
种属内
PSMC3IP Q9P2W1 MND1 Homo sapiens Q9BWT6
GMS
16407260
种属内
PSMC3IP Q9P2W1 MND1 Homo sapiens Q9BWT6
Chromatography
16407260
种属内
PSMC3IP Q9P2W1 MND1 Homo sapiens Q9BWT6
Solution Sedimentation
16407260
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11313 PSMC3IP Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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