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USP9X - ubiquitin specific peptidase 9 X-linked Gene

Also Known as FAF; FAM; hFAM; DFFRX; MRX99; XLID99; MRXS99F

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 8239

About 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.

Summary

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 Products (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 Protein Structure

UCH

0
400
800
1200
1600
2000
2400
2570 a.a.

Protein Preferred Names	Protein Names
probable ubiquitin carboxyl-terminal hydrolase FAF-X	Drosophila fat facets related, X-linked

USP9X Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	USP9X	Q93008	MCL1	Homo sapiens	Q07820	Anti Bait CoIP	20023629
Intra	USP9X	Q93008	SMAD4	Homo sapiens	Q13485	Anti Bait CoIP	19135894
Intra	USP9X	Q93008	HTT	Homo sapiens	P42858	Y2H	17500595

Cross: Cross-species interaction Intra: Intraspecies interaction

USP9X 抗体

製品番号	製品名	アプリケーション	反応性
HY-P82066	USP9X Antibody (YA1811)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

関連疾患

Diseases	Alias
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

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 (9)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-13264	Degrasyn		99.70%	Unkown
HY-145967	FT709	Inhibitor	99.81%	Unkown
HY-111408	EOAI3402143	Inhibitor	98.11%	Unkown
HY-149230	USP28-IN-4	Inhibitor	98.86%	Unkown
HY-149229	USP28-IN-3	Inhibitor	98.26%	Unkown
HY-RS15570	USP9X Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-149228	USP28-IN-2	Inhibitor	/	Unkown
HY-RS16960	Usp9x Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23403	Usp9x Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	USP9X	MGD	MGI:894681
Rattus norvegicus	USP9X	RGD	RGD:1560056
Bos taurus	USP9X	VGNC	VGNC:56957
Others	USP9X	NCBI