USP48 - ubiquitin specific peptidase 48 Gene

Homo sapiens

Also known as USP31; RAP1GA1

Gene ID: 84196 | Gene type: protein coding

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

USP48 Protein Structure

UCH

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15559	USP48 Human 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

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