USP48 - ubiquitin specific peptidase 48 Gene

Also Known as USP31; RAP1GA1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84196

About USP48

Cytogenetic location: 1p36.12 Genomic coordinates (GRCh38): 1:21,678,298-21,783,149 (from NCBI)

This gene has 15 transcripts (splice variants), 215 orthologues, 71 paralogues and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 9.7), lymph node (RPKM 7.9) and 25 other tissues.

Summary

This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating Enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

USP48 Products (7)

mRNA Protein Name
NM_001032730.3 NP_001027902.1 ubiquitin carboxyl-terminal hydrolase 48 isoform b
NM_001330394.3 NP_001317323.1 ubiquitin carboxyl-terminal hydrolase 48 isoform c
NM_001350164.2 NP_001337093.1 ubiquitin carboxyl-terminal hydrolase 48 isoform d
NM_001350166.2 NP_001337095.1 ubiquitin carboxyl-terminal hydrolase 48 isoform 3
NM_001350167.2 NP_001337096.1 ubiquitin carboxyl-terminal hydrolase 48 isoform f
NM_001350168.2 NP_001337097.1 ubiquitin carboxyl-terminal hydrolase 48 isoform g
NM_032236.8 NP_115612.4 ubiquitin carboxyl-terminal hydrolase 48 isoform a

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables deubiquitinase activity IDA
IDA: Inferred from direct assay
34059922 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

USP48 Protein Structure

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (89 - 418)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1035 a.a.
Protein Preferred Names Protein Names

ubiquitin carboxyl-terminal hydrolase 48

  • deubiquitinating enzyme 48

Related Diseases

Diseases Alias
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

  • Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

  • Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

  • Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

  • Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

  • Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

  • Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

  • Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Pituitary Cancer

  • Pituitary Carcinoma

  • Malignant Pituitary Neoplasm

  • Malignant Tumor Of Pituitary Gland

  • Neoplasm Of Pituitary Gland

  • Pituitary Gland Cancer

  • Pituitary Gland Neoplasm

  • Pituitary Neoplasm

  • Carcinoma Of The Pituitary Gland

  • Neoplasm Of The Pituitary Gland

  • Pituitary Neoplasms

  • Malignant Neoplasm Of Pituitary Gland
Pelvic Lipomatosis

  • Excess Of Mature Unencapsulated Fatty Tissue In The Pelvis
Acth-Secreting Pituitary Adenoma

  • Acth-Producing Pituitary Adenoma

  • Corticotroph Adenoma

  • Corticotropinoma

  • Pituitary-Dependent Cushing'S Disease

  • Adrenal Gland Hyperfunction

  • Cushing Syndrome
Nelson Syndrome

  • Nelson'S Syndrome

  • Dermal Ridges

  • Ridges-Off-The-End Syndrome

  • Postadrenalectomy Cushing Syndrome
Multiple Endocrine Neoplasia, Type Iv

  • Multiple Endocrine Neoplasia Type 4

  • MEN4

  • Multiple Endocrine Neoplasia 4

  • Neoplasia, Endocrine, Multiple, Type Iv
Pituitary-Dependent Cushing'S Disease

  • Pituitary-Dependent Cushing Disease

  • Pituitary Acth Hypersecretion

  • Overproduction Of Acth

  • Pituitary-Dependent Cushings Disease

  • Overproduction Of Pituitary Acth

  • Pituitary-Dependent Hyperadrenocorticism

  • Corticotroph Pituitary Adenoma

  • Acth- [Adrenocorticotropic Hormone] Secreting Pituitary Adenoma

  • Cushing Syndrome Or Disease, Pituitary-Dependent

  • Cushings Basophilism

  • Cushing'S Syndrome 3

  • Itsenko-Cushing Syndrome

  • Itsenko Disease

  • Pituitary Basophilism

  • Pituitary-Dependent Hypercorticalism

  • Suprarenogenic Syndrome

  • Cushing Disease

  • Cushing'S Disease
Functioning Pituitary Adenoma

  • Secretory Adenoma Of The Pituitary Gland

  • Endocrine Active Pituitary Adenoma

  • Secreting Pituitary Adenoma

  • Pituitary Adenoma, Functioning
Lissencephaly, X-Linked, 2

  • X-Linked Lissencephaly With Abnormal Genitalia

  • Hydranencephaly With Abnormal Genitalia

  • Xlag

  • Xlisg

  • X-Linked Lissencephaly With Ambiguous Genitalia

  • LISX2

  • Lissencephaly, X-Linked 2

  • X-Linked Lissencephaly 2

  • X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome

  • Xlag Syndrome

  • Lissencephaly, X-Linked, With Ambiguous Genitalia

  • Xlis2

  • X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies

  • X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome

  • Xlag Syndrome

  • Lissencephaly X-Linked With Ambiguous Genitalia

  • Lissencephaly, X-Linked, Type 2

  • Chromosome Xq26.3 Duplication Syndrome
Carney Complex Variant

  • Carney Complex

  • Carney Syndrome

  • Carney Complex, Type 1

  • Lamb Syndrome

  • Name Syndrome

  • Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome

  • Carney Complex - Trismus - Pseudocamptodactyly Syndrome

  • Carney Complex, Type 2

  • Car

  • Cnc1

  • Carney Myxoma-Endocrine Complex

  • Myxoma - Spotty Pigmentation - Endocrine Overactivity

  • Myxoma, Spotty Pigmentation, And Endocrine Overactivity

  • Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome

  • Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

  • Carney Complex-Trismus-Pseudocamptodactyly Syndrome

  • CACOV
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 (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15559 USP48 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21803 Usp48 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28319 Usp48 Rat Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus USP48 VGNC VGNC:36733
Rattus norvegicus USP48 RGD RGD:735213
Mus musculus USP48 MGD MGI:2158502
Felis catus USP48 VGNC VGNC:66891
Canis familiaris USP48 VGNC VGNC:48199
Macaca mulatta USP48 VGNC VGNC:79149
Others USP48 NCBI