2. Gene
  3. ESX1 - ESX homeobox 1 Gene

ESX1 - ESX homeobox 1 Gene

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

中文名称：ESX 同源框 1

种属: Homo sapiens

同用名: ESX1L; ESXR1

基因 ID: 80712 | 基因类型: protein coding

关于 ESX1

Cytogenetic location: Xq22.2 Genomic coordinates (GRCh38): X:104,250,038-104,254,933 (from NCBI)

This gene has 1 transcript (splice variant), 52 orthologues and 50 paralogues. Restricted expression toward testis (RPKM 5.2).

功能概要

该基因编码一种双功能的 65 kDa 蛋白质，该蛋白质经过蛋白水解切割产生一个具有配对样同源结构域的 45 kDa N 端片段和一个具有富含脯氨酸结构域的 20 kDa C 端片段。 C 端片段定位于细胞质，而 N 端片段仅定位于细胞核。与人类相比，小鼠同系物在 C 端有一个新的 PN/PF 基序，并在胎盘组织中印有父系印记。该基因可能在胎盘发育和精子发生中起作用。[RefSeq 提供，2010 年 1 月]

This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010]

ESX1 基因产物(1)

mRNA Protein Name
NM_153448.4 NP_703149.1 homeobox protein ESX1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
15897875 GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IMP
IMP: 通过突变表型推断
15897875 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP
IMP: 通过突变表型推断
15897875 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
15897875 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
15897875 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
15897875 GOA
involved in regulation of cell cycle IDA
IDA: 通过直接分析推断
15235584 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
15235584 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15235584 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

ESX1 蛋白结构

Homeobox

Homeobox: Homeobox domain (140 - 196)

  • 0
  • 100
  • 200
  • 300
  • 406 a.a.
蛋白主名 其他名称

homeobox protein ESX1

ESX1-related protein

关联疾病

疾病名称 别名
Pituitary Hypoplasia

Hypoplasia Of The Pituitary Gland
Adamantinous Craniopharyngioma

Adamantinous Rathke'S Pouch Tumor

Craniopharyngioma, Adamantinomatous

Adamantinomatous Craniopharyngioma
Isolated Growth Hormone Deficiency Type Iii

Congenital Ighd Type Iii

Congenital Isolated Gh Deficiency Type Iii

Congenital Isolated Growth Hormone Deficiency Type Iii

Fleisher Syndrome

Growth Hormone Deficiency With Hypogammaglobulinemia

Ighd Iii

X-Linked Ighd

X-Linked Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 3

X-Linked Agammaglobulinemia And Isolated Growth Hormone Deficiency

X-Linked Hypogammaglobulinemia And Isolated Growth Hormone Deficiency

Agammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked

Hypogammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked

Ighd3

Growth Hormone Deficiency, Isolated, Type Iii )
Septooptic Dysplasia

Septo-Optic Dysplasia

De Morsier Syndrome

Growth Hormone Deficiency With Pituitary Anomalies

SOD

Pituitary Hormone Deficiency, Combined, 5

Septo-Optic Dysplasia Spectrum

Septo-Optic Dysplasia With Growth Hormone Deficiency

Pituitary Hormone Deficiency, Combined 5

Hypopituitarism And Septooptic 'Dysplasia'

GHDPA

CPHD5

Dysplasia, Septo-Optic

Kallmann Syndrome
Pituitary Hormone Deficiency, Combined, 2

Panhypopituitarism

Combined Pituitary Hormone Deficiency

CPHD2

Ateliotic Dwarfism With Hypogonadism

Pituitary Dwarfism Iii

Hanhart Dwarfism

Simmond'S Disease

Simmonds' Disease

Cphd

Pituitary Hormone Deficiency, Combined

Hormone Deficiency, Pituitary, Combined, Type 2

Pituitary Dwarfism Type 3

Sheehan Syndrome
Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia

Bilateral Optic Nerve Hypoplasia

Optic Nerve Hypoplasia, Familial Bilateral

Familial Bilateral Optic Nerve Hypoplasia

Isolated Optic Nerve Hypoplasia/Aplasia

Optic Nerve Aplasia, Bilateral

Onh

BONH

Bilateral Optic Nerve Aplasia

Hypoplasia, Optic Nerve, Bilateral
Macular Dystrophy, Patterned, 1

Patterned Macular Dystrophy 1

MDPT1

Patterned Dystrophy Of Retinal Pigment Epithelium

Macular Dystrophy, Butterfly-Shaped Pigmentary

Butterfly Dystrophy Of Retinal Pigment Epithelium

Butterfly-Shaped Pigmentary Maculary Dystrophy 1

Dystrophy, Macular, Patterned, Type 1
Skeletal Tuberculosis

Tuberculosis, Osteoarticular

Osteoarticular Tuberculosis
Isolated Growth Hormone Deficiency

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Pituitary Dwarfism

Dwarfism, Pituitary

Isolated Somatotropin Deficiency

Isolated Congenital Growth Hormone Deficiency

Familial Isolated Growth Hormone Deficiency

Ighd

Dwarfism, Growth Hormone Deficiency

Growth Hormone Deficiency Dwarfism

Isolated Gh Deficiency

Isolated Hgh Deficiency

Isolated Human Growth Hormone Deficiency

Isolated Somatotropin Deficiency Disorder

Dwarfism Pituitary
Pituitary Gland Disease

Pituitary Diseases

Pituitary Dysfunction

Pituitary Disease

Pituitary Deficiency

Pituitary Disorders
Multidrug-Resistant Tuberculosis

Tuberculosis, Multidrug-Resistant

Tuberculosis Multidrug-Resistant
Culler-Jones Syndrome

Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome

CJS

Pallister-Hall Syndrome 2, Formerly

Phs2, Formerly

Pallister-Hall Syndrome 2

Phs2
Primary Bacterial Infectious Disease
Miliary Tuberculosis

Acute Miliary Tuberculosis

Disseminated Tuberculosis

Tuberculosis, Miliary

Generalized Tuberculosis

Tuberculosis Miliaris Disseminata

Tuberculosis Miliary

Tuberculosis Disseminated

Miliary Tb - [Tuberculosis]

Generalised Tuberculosis

Concato Disease

Diffuse Necrotic Tuberculosis

Diffuse Necrotizing Tuberculosis

Diffuse Tuberculous Degeneration

Diffuse Tuberculous Gangrene

Mtb - [Miliary Tuberculosis]

Miliary Tuberculous

Miliary Tuberculosis Unspecified

Disseminated Miliary Tuberculosis

Disseminated Necrotic Tuberculosis

Disseminated Necrotizing Tuberculosis

Disseminated Tuberculous Gangrene

Disseminated Tuberculous Degeneration
Leprosy 3

Leprosy

Leprosy, Susceptibility To, 3

Hansen'S Disease

Leprosy, Susceptibility To

Hansen Disease

Infection Due To Mycobacterium Leprae

LPRS3

Leprosy, Type 3

Anaesthesia Leprosy

Anaesthetic Leprosy

Maculoanaesthetic Leprosy

Macular Leprosy

Leprosy Unspecified
Mycobacterium Tuberculosis 1

Tuberculosis

Tuberculoma

Tuberculosis, Susceptibility To

Mycobacterium Tuberculosis, Susceptibility To, 1

Mtbs1

TB
Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia
Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]
Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes
Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos
46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females
Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-RS04547 ESX1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus ESX1 MGD MGI:1096388
Canis familiaris ESX1 VGNC VGNC:54139
Rattus norvegicus ESX1 RGD RGD:1590738
Bos taurus ESX1 VGNC VGNC:28612
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