USP9X - ubiquitin specific peptidase 9 X-linked Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene 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

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

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82066 USP9X Antibody (YA1811) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (9)
Cat. No. Product Name
Effect
Purity
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

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