HNRNPU - heterogeneous nuclear ribonucleoprotein U Gene

Homo sapiens

Also known as SAFA; DEE54; HNRPU; SAF-A; U21.1; pp120; EIEE54; GRIP120; hnRNP U; HNRNPU-AS1

Gene ID: 3192 | Gene type: protein coding

About HNRNPU

Cytogenetic location: 1q44 Genomic coordinates (GRCh38): 1:244,850,297-244,864,543 (from NCBI)

This gene has 32 transcripts (splice variants), 231 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 31.0), lymph node (RPKM 28.0) and 25 other tissues.

Summary

This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017]

HNRNPU Products(2)

mRNA	Protein	Name
NM_004501.3	NP_004492.2	heterogeneous nuclear ribonucleoprotein U isoform b
NM_031844.3	NP_114032.2	heterogeneous nuclear ribonucleoprotein U isoform a

HNRNPU Protein Structure

SAP

SPRY

AAA_33

0
200
400
600
825 a.a.

Protein Preferred Names

Protein Names

heterogeneous nuclear ribonucleoprotein U

HNRNPU antisense RNA 1

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 54

DEE54	Epileptic Encephalopathy, Early Infantile, 54
Eiee54	Developmental And Epileptic Encephalopathy, 54
Early Infantile Epileptic Encephalopathy 54	Encephalopathy, Epileptic, Early Infantile, Type 54

1q44 Microdeletion Syndrome

Del(1)(Q44)	Monosomy 1q44
Chromosome 1q44 Microdeletion Syndrome

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS06278	HNRNPU Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HNRNPU	MGD	MGI:1858195
Rattus norvegicus	HNRNPU	RGD	RGD:620372
Macaca mulatta	HNRNPU	VGNC	VGNC:73500
Felis catus	HNRNPU	VGNC	VGNC:67613
Bos taurus	HNRNPU	VGNC	VGNC:50193
Canis familiaris	HNRNPU	VGNC	VGNC:53492

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