HNRNPU
Heterogeneous nuclear ribonucleoprotein U
Also known as: C1orf199, FLJ30202, FLJ37978, HNRNPU-AS1, HNRPU, HNRPU_HUMAN, NCRNA00201, SAF-A
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q00839
- Gene
- HNRNPU
- Ensembl
- ENSG00000153187
- Chromosome
- 1
- Canonical length
- 825 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
825 residues, UniProt reviewed canonical sequence.
>Q00839|HNRNPU
1 MSSSPVNVKK LKVSELKEEL KKRRLSDKGL KAELMERLQA ALDDEEAGGR PAMEPGNGSL
61 DLGGDSAGRS GAGLEQEAAA GGDEEEEEEE EEEEGISALD GDQMELGEEN GAAGAADSGP
121 MEEEEAASED ENGDDQGFQE GEDELGDEEE GAGDENGHGE QQPQPPATQQ QQPQQQRGAA
181 KEAAGKSSGP TSLFAVTVAP PGARQGQQQA GGKKKAEGGG GGGRPGAPAA GDGKTEQKGG
241 DKKRGVKRPR EDHGRGYFEY IEENKYSRAK SPQPPVEEED EHFDDTVVCL DTYNCDLHFK
301 ISRDRLSASS LTMESFAFLW AGGRASYGVS KGKVCFEMKV TEKIPVRHLY TKDIDIHEVR
361 IGWSLTTSGM LLGEEEFSYG YSLKGIKTCN CETEDYGEKF DENDVITCFA NFESDEVELS
421 YAKNGQDLGV AFKISKEVLA GRPLFPHVLC HNCAVEFNFG QKEKPYFPIP EEYTFIQNVP
481 LEDRVRGPKG PEEKKDCEVV MMIGLPGAGK TTWVTKHAAE NPGKYNILGT NTIMDKMMVA
541 GFKKQMADTG KLNTLLQRAP QCLGKFIEIA ARKKRNFILD QTNVSAAAQR RKMCLFAGFQ
601 RKAVVVCPKD EDYKQRTQKK AEVEGKDLPE HAVLKMKGNF TLPEVAECFD EITYVELQKE
661 EAQKLLEQYK EESKKALPPE KKQNTGSKKS NKNKSGKNQF NRGGGHRGRG GFNMRGGNFR
721 GGAPGNRGGY NRRGNMPQRG GGGGGSGGIG YPYPRAPVFP GRGSYSNRGN YNRGGMPNRG
781 NYNQNFRGRG NNRGYKNQSQ GYNQWQQGQF WGQKPWSQHY HQGYYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HNRNPU can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 169 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 169 nTPM
- thymus: 131 nTPM
- ovary: 126 nTPM
- retina: 118 nTPM
- cerebellum: 115 nTPM
- epididymis: 114 nTPM
Single-cell type
- late spermatids: 870 nCPM
- monocyte progenitors: 841 nCPM
- erythrocyte progenitors: 718 nCPM
- megakaryocyte progenitors: 665 nCPM
- neutrophil progenitors: 662 nCPM
- neutrophils: 627 nCPM
Immune cell
- plasmacytoid DC: 31 nTPM
- naive CD4 T-cell: 26 nTPM
- basophil: 23 nTPM
- memory B-cell: 23 nTPM
- memory CD4 T-cell: 22 nTPM
- memory CD8 T-cell: 22 nTPM
Brain region
- white matter: 156 nTPM
- cerebral cortex: 133 nTPM
- basal ganglia: 133 nTPM
- spinal cord: 132 nTPM
- cerebellum: 131 nTPM
- thalamus: 127 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HNRNPU.
Disease | AllUniProt
Conditions HNRNPU is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 54 (DEE54) MIM:617391
Disease | GeneticClinVar
153 pathogenic / likely-pathogenic of 1,197 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy, 54
- Inborn genetic diseases
- Seizure
- Intellectual disability
- heterogeneous nuclear ribonucleoprotein G, human
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.11
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.37
- DepMap mean gene effect
- -1.09
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adaptive thermogenesis
- alternative mRNA splicing, via spliceosome
- brown fat cell differentiation
- cardiac muscle cell development
- cell division
- cellular response to glucocorticoid stimulus
- cellular response to leukemia inhibitory factor
- chromatin organization
- circadian regulation of gene expression
- CRD-mediated mRNA stabilization
- dendritic transport of messenger ribonucleoprotein complex
- dosage compensation by inactivation of X chromosome
- erythrocyte differentiation
- maintenance of protein location in nucleus
- mRNA splicing, via spliceosome
- mRNA stabilization
- negative regulation of kinase activity
- negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay
- negative regulation of stem cell differentiation
- negative regulation of telomere maintenance via telomerase
- negative regulation of transcription by RNA polymerase II
- negative regulation of transcription elongation by RNA polymerase II
- osteoblast differentiation
- positive regulation of attachment of mitotic spindle microtubules to kinetochore
- positive regulation of brown fat cell differentiation
- positive regulation of cytoplasmic translation
- positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity
- positive regulation of stem cell proliferation
- positive regulation of transcription by RNA polymerase II
- random inactivation of X chromosome
- regulation of alternative mRNA splicing, via spliceosome
- regulation of chromatin organization
- regulation of mitotic cell cycle
- regulation of mitotic spindle assembly
- regulatory ncRNA-mediated heterochromatin formation
- RNA processing
- protein localization to spindle microtubule
- RNA localization to chromatin
Molecular functions
- actin binding
- ATP binding
- chromatin binding
- chromatin DNA binding
- DNA binding
- double-stranded DNA binding
- double-stranded RNA binding
- identical protein binding
- lncRNA binding
- mRNA 3'-UTR binding
- piRNA binding
- poly(A) binding
- poly(G) binding
- pre-mRNA binding
- promoter-specific chromatin binding
- protein-containing complex binding
- ribonucleoprotein complex binding
- RNA binding
- RNA polymerase II C-terminal domain binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II complex binding
- sequence-specific double-stranded DNA binding
- single-stranded DNA binding
- single-stranded RNA binding
- snRNA binding
- telomerase RNA binding
- TFIIH-class transcription factor complex binding
- transcription corepressor activity
- poly(C) RNA binding
Cellular components
- catalytic step 2 spliceosome
- cell surface
- centrosome
- CRD-mediated mRNA stability complex
- cytoplasmic ribonucleoprotein granule
- cytosol
- dendrite
- kinetochore
- membrane
- midbody
- mitotic spindle
- mitotic spindle microtubule
- mitotic spindle midzone
- nuclear chromosome
- nuclear matrix
- nuclear speck
- nucleoplasm
- nucleus
- protein-containing complex
- ribonucleoprotein complex
- spindle pole
- telomerase holoenzyme complex
- inactive sex chromosome
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
- Acetylation
- Activator
- ADP-ribosylation
- ATP-binding
- Biological rhythms
- Cell cycle
- Cell division
- Centromere
- Chromatin regulator
- Chromosome
- Citrullination
- Cytoplasm
- Cytoskeleton
- Developmental protein
- Differentiation
- DNA-binding
- Epilepsy
- Host-virus interaction
- Isopeptide bond
- Kinetochore
- Methylation
- Mitosis
- mRNA processing
- mRNA splicing
- Nucleotide-binding
- Nucleus
- Phosphoprotein
- Repressor
- Ribonucleoprotein
- RNA-binding
- Spliceosome
- Transcription
- Transcription regulation
- Ubl conjugation
InteractionsUniProt · HPA
Protein binding partners of HNRNPU in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HNRNPU as an antibody target. Whether an autoantibody or antibody against HNRNPU could matter depends on whether native HNRNPU is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HNRNPU is annotated at the cell surface, where native HNRNPU is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label HNRNPU as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...