2. Gene
  3. USP9X - ubiquitin specific peptidase 9 X-linked Gene

USP9X - ubiquitin specific peptidase 9 X-linked Gene

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

中文名称：泛素特异性肽酶 9 X-连锁

种属: Homo sapiens

同用名: FAF; FAM; hFAM; DFFRX; MRX99; XLID99; MRXS99F

基因 ID: 8239 | 基因类型: protein coding

关于 USP9X

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:41,085,445-41,236,579 (from NCBI)

This gene has 18 transcripts (splice variants), 228 orthologues, 71 paralogues and is associated with 94 phenotypes. Ubiquitous expression in testis (RPKM 14.2), thyroid (RPKM 14.0) and 25 other tissues.

功能概要

该基因是肽酶 C19 家族的成员，编码一种类似于泛素特异性蛋白酶的蛋白质。虽然这个基因位于 X 染色体上，但它逃避了 X 失活。该基因的突变与特纳综合征有关。已经表征了编码不同亚型的替代转录剪接变体。[RefSeq 提供，2008 年 7 月]

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

USP9X 基因产物(4)

mRNA Protein Name
NM_001039590.3 NP_001034679.2 probable ubiquitin carboxyl-terminal hydrolase FAF-X isoform 3
NM_001039591.3 NP_001034680.2 probable ubiquitin carboxyl-terminal hydrolase FAF-X isoform 4
NM_001410748.1 NP_001397677.1 probable ubiquitin carboxyl-terminal hydrolase FAF-X isoform 5
NM_001410749.1 NP_001397678.1 probable ubiquitin carboxyl-terminal hydrolase FAF-X isoform 6

USP9X 蛋白结构

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (1557 - 1953)

  • 0
  • 400
  • 800
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  • 1600
  • 2000
  • 2400
  • 2570 a.a.
蛋白主名 其他名称

probable ubiquitin carboxyl-terminal hydrolase FAF-X

Drosophila fat facets related, X-linked

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted

MRXS99F

Mental Retardation, X-Linked 99, Syndromic, Female-Restricted
Intellectual Developmental Disorder, X-Linked 99

XLID99

Mental Retardation, X-Linked 99

Mrx99

Mental Retardation, X-Linked, Type 99
Female-Restricted Syndromic X-Linked Intellectual Disability 99

X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability

Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted

Female-Restricted Syndromic X-Linked Mental Retardation 99

Mrxs99f

X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited To Females
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
Non-Syndromic X-Linked Intellectual Disability 99

Mrx99

X-Linked Mental Retardation 99
Turner Syndrome

Monosomy X

Gonadal Dysgenesis Turner Type

Ullrich-Turner Syndrome

Bonnevie-Ullrich Syndrome

Karyotype 45, X

Genital Dwarfism, Turner Type

Gonadal Dysgenesis

45,X

Turner'S Syndrome

Gonadal Dysgenesis - Turner

Monosomy X Syndrome

Xo Syndrome

Genital Dwarfism

45, X Syndrome

Bonnevie-Ulrich Syndrome

Chromosome X Monosomy X

Schereshevkii Turner Syndrome

Turner Varny Syndrome

Ts

45,X Syndrome

45,X/46,Xx Syndrome

Turners Syndrome

Gonadal Dysgenesis, 45,X

X0 Syndrome
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
Scoliosis
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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 (7)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-13264 Degrasyn 99.70% 否
HY-111408 EOAI3402143 Inhibitor 98.95% 否
HY-145967 FT709 Inhibitor 99.81% 否
HY-149230 USP28-IN-4 Inhibitor 99.35% 否
HY-149229 USP28-IN-3 Inhibitor 98.26% 否
HY-149228 USP28-IN-2 Inhibitor / 否
HY-RS15570 USP9X Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus USP9X MGD MGI:894681
Rattus norvegicus USP9X RGD RGD:1560056
Bos taurus USP9X VGNC VGNC:56957
Others USP9X NCBI
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