USP9X - ubiquitin specific peptidase 9 X-linked Gene

Homo sapiens

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

Gene ID: 8239 | Gene type: protein coding

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

Related Diseases

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

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13264	Degrasyn		99.70%	Unkown
HY-111408	EOAI3402143	Inhibitor	98.95%	Unkown
HY-145967	FT709	Inhibitor	99.81%	Unkown
HY-149230	USP28-IN-4	Inhibitor	99.35%	Unkown
HY-149228	USP28-IN-2	Inhibitor	/	Unkown
HY-149229	USP28-IN-3	Inhibitor	/	Unkown
HY-RS15570	USP9X Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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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