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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP binding	IDA IDA: Inferred from direct assay	28622508	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	9204873	GOA
enables RNA binding	IDA IDA: Inferred from direct assay	23811339	GOA
enables RNA binding	IPI IPI: Inferred from physical interaction	18082603	GOA
enables RNA polymerase II complex binding	IDA IDA: Inferred from direct assay	10490622	GOA
enables TFIIH-class transcription factor complex binding	IDA IDA: Inferred from direct assay	10490622	GOA
enables actin binding	IDA IDA: Inferred from direct assay	15711563	GOA
enables chromatin DNA binding	IDA IDA: Inferred from direct assay	11003645	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	9405365	GOA
enables double-stranded DNA binding	IDA IDA: Inferred from direct assay	8068679	GOA
enables double-stranded RNA binding	IDA IDA: Inferred from direct assay	8174554	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	28622508	GOA
enables mRNA 3'-UTR binding	IDA IDA: Inferred from direct assay	17174306	GOA
enables piRNA binding	IPI IPI: Inferred from physical interaction	37332045	GOA
enables poly(A) binding	IDA IDA: Inferred from direct assay	8174554	GOA
enables poly(C) RNA binding	IDA IDA: Inferred from direct assay	8174554	GOA
enables poly(G) binding	IDA IDA: Inferred from direct assay	8174554	GOA
enables pre-mRNA binding	IDA IDA: Inferred from direct assay	22325991	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7753047	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	19617346	GOA
enables ribonucleoprotein complex binding	IDA IDA: Inferred from direct assay	19617346	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	9405365	GOA
enables single-stranded DNA binding	IDA IDA: Inferred from direct assay	1628625	GOA
enables single-stranded RNA binding	IDA IDA: Inferred from direct assay	1628625	GOA
enables snRNA binding	IDA IDA: Inferred from direct assay	22325991	GOA
enables telomerase RNA binding	IPI IPI: Inferred from physical interaction	18082603	GOA
enables transcription corepressor activity	IMP IMP: Inferred from mutant phenotype	19617346	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in CRD-mediated mRNA stabilization	IDA IDA: Inferred from direct assay	19029303	GOA
involved in CRD-mediated mRNA stabilization	IMP IMP: Inferred from mutant phenotype	19029303	GOA
involved in cellular response to glucocorticoid stimulus	IDA IDA: Inferred from direct assay	9353307	GOA
involved in mRNA stabilization	IDA IDA: Inferred from direct assay	17174306	GOA
involved in maintenance of protein location in nucleus	IMP IMP: Inferred from mutant phenotype	19617346	GOA
involved in negative regulation of kinase activity	IMP IMP: Inferred from mutant phenotype	10490622	GOA
involved in negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IDA IDA: Inferred from direct assay	19029303	GOA
involved in negative regulation of stem cell differentiation	IMP IMP: Inferred from mutant phenotype	21235343	GOA
involved in negative regulation of telomere maintenance via telomerase	IMP IMP: Inferred from mutant phenotype	18082603	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	9353307	GOA
involved in negative regulation of transcription elongation by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	10490622	GOA
involved in positive regulation of attachment of mitotic spindle microtubules to kinetochore	IMP IMP: Inferred from mutant phenotype	21242313	GOA
involved in positive regulation of cytoplasmic translation	IDA IDA: Inferred from direct assay	19029303	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	15711563	GOA
involved in protein localization to spindle microtubule	IMP IMP: Inferred from mutant phenotype	21242313	GOA
involved in random inactivation of X chromosome	IDA IDA: Inferred from direct assay	25843628	GOA
involved in regulation of alternative mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	22325991	GOA
involved in regulation of chromatin organization	IMP IMP: Inferred from mutant phenotype	28622508	GOA
involved in regulation of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	25986610	GOA
involved in regulation of mitotic spindle assembly	IMP IMP: Inferred from mutant phenotype	21242313	GOA
involved in regulatory ncRNA-mediated heterochromatin formation	IMP IMP: Inferred from mutant phenotype	25843628	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of CRD-mediated mRNA stability complex	IDA IDA: Inferred from direct assay	19029303	GOA
part of CRD-mediated mRNA stability complex	IPI IPI: Inferred from physical interaction	19029303	GOA
part of RNA polymerase II transcription regulator complex	IDA IDA: Inferred from direct assay	10490622	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in cell surface	IDA IDA: Inferred from direct assay	7993898	GOA
located in centrosome	IDA IDA: Inferred from direct assay	25986610	GOA
located in cytoplasmic ribonucleoprotein granule	IDA IDA: Inferred from direct assay	15121898	GOA
located in cytosol	IDA IDA: Inferred from direct assay	19029303	GOA
located in inactive sex chromosome	IDA IDA: Inferred from direct assay	14608463	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	21242313	GOA
located in midbody	IDA IDA: Inferred from direct assay	25986610	GOA
located in mitotic spindle	IDA IDA: Inferred from direct assay	21242313	GOA
located in mitotic spindle microtubule	IDA IDA: Inferred from direct assay	21242313	GOA
located in mitotic spindle midzone	IDA IDA: Inferred from direct assay	21242313	GOA
located in nuclear chromosome	IDA IDA: Inferred from direct assay	11003645	GOA
located in nuclear matrix	IDA IDA: Inferred from direct assay	8174554	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	9353307	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	28221134	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9353307	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	8174554	GOA
part of ribonucleoprotein complex	IDA IDA: Inferred from direct assay	9405365	GOA
part of telomerase holoenzyme complex	IDA IDA: Inferred from direct assay	18082603	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

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

HNRNPU Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HNRNPU	Q00839	BRIX1	Homo sapiens	Q8TDN6	Anti Tag CoIP	26496610
Intra	HNRNPU	Q00839	HNRNPD	Homo sapiens	Q14103	Crosslink	30021884
Intra	HNRNPU	Q00839	HNRNPD	Homo sapiens	Q14103	Y2H	22365833
Intra	HNRNPU	Q00839	HNRNPD	Homo sapiens	Q14103	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

HNRNPU Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81279	hnRNP U Antibody (YA979)	WB	Human
HY-P81279A	hnRNP U Antibody (YA980)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

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	Pre-designed Sets	/	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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