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Aliases for HNRNPK Gene

Aliases for HNRNPK Gene

  • Heterogeneous Nuclear Ribonucleoprotein K 2 3 5
  • Transformation Upregulated Nuclear Protein 2 3
  • HNRPK 3 4
  • TUNP 3 4
  • Transformation Up-Regulated Nuclear Protein 4
  • DC-Stretch Binding Protein 3
  • HnRNP K 4
  • AUKS 3
  • CSBP 3

External Ids for HNRNPK Gene

Previous HGNC Symbols for HNRNPK Gene

  • HNRPK

Previous GeneCards Identifiers for HNRNPK Gene

  • GC09M085775
  • GC09M086582
  • GC09M056408

Summaries for HNRNPK Gene

Entrez Gene Summary for HNRNPK Gene

  • This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for HNRNPK Gene

HNRNPK (Heterogeneous Nuclear Ribonucleoprotein K) is a Protein Coding gene. Diseases associated with HNRNPK include Au-Kline Syndrome and Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due To 9Q21 Microdeletion. Among its related pathways are mRNA Splicing - Major Pathway and Influenza A. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is PCBP3.

UniProtKB/Swiss-Prot for HNRNPK Gene

  • One of the major pre-mRNA-binding proteins. Binds tenaciously to poly(C) sequences. Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. Can also bind poly(C) single-stranded DNA. Plays an important role in p53/TP53 response to DNA damage, acting at the level of both transcription activation and repression. When sumoylated, acts as a transcriptional coactivator of p53/TP53, playing a role in p21/CDKN1A and 14-3-3 sigma/SFN induction (By similarity). As far as transcription repression is concerned, acts by interacting with long intergenic RNA p21 (lincRNA-p21), a non-coding RNA induced by p53/TP53. This interaction is necessary for the induction of apoptosis, but not cell cycle arrest.

Gene Wiki entry for HNRNPK Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HNRNPK Gene

Genomics for HNRNPK Gene

Regulatory Elements for HNRNPK Gene

Enhancers for HNRNPK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G083508 0.9 FANTOM5 ENCODE dbSUPER 1.7 +472.4 472434 0.2 L3MBTL2 KIF27 HNRNPK UBQLN1 PIR58953 GC09M083513 GC09M083455
GH09G083977 1.4 ENCODE dbSUPER 0.7 +0.6 598 5.5 HNRNPUL1 PKNOX1 MLX CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 C9orf64 KIF27 LOC105376116 IDNK RMI1 GKAP1 HNRNPK ENSG00000235298
GH09G083972 0.4 dbSUPER 0.4 +8.2 8198 0.9 PAF1 ENSG00000235298 HNRNPK
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HNRNPK on UCSC Golden Path with GeneCards custom track

Promoters for HNRNPK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000236870 754 4201 HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A

Genomic Location for HNRNPK Gene

Chromosome:
9
Start:
83,968,083 bp from pter
End:
83,980,654 bp from pter
Size:
12,572 bases
Orientation:
Minus strand

Genomic View for HNRNPK Gene

Genes around HNRNPK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HNRNPK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HNRNPK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HNRNPK Gene

Proteins for HNRNPK Gene

  • Protein details for HNRNPK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61978-HNRPK_HUMAN
    Recommended name:
    Heterogeneous nuclear ribonucleoprotein K
    Protein Accession:
    P61978
    Secondary Accessions:
    • Q07244
    • Q15671
    • Q59F98
    • Q5T6W4
    • Q60577
    • Q922Y7
    • Q96J62

    Protein attributes for HNRNPK Gene

    Size:
    463 amino acids
    Molecular mass:
    50976 Da
    Quaternary structure:
    • Interacts with RBM42 and ZIK1. Interacts with BRDT (By similarity). Identified in the spliceosome C complex. Interacts with ANKRD28. Interacts with HCV core protein. Interacts with ASFV p30 protein. Interacts with DDX1. Interacts with MDM2; this interaction leads to ubiquitination and proteasomal degradation. Interacts with p53/TP53.
    SequenceCaution:
    • Sequence=BAD92799.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HNRNPK Gene

    Alternative splice isoforms for HNRNPK Gene

neXtProt entry for HNRNPK Gene

Post-translational modifications for HNRNPK Gene

  • Arg-296 and Arg-299 are dimethylated, probably to asymmetric dimethylarginine.
  • O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner.
  • Sumoylated by CBX4. Sumoylation is increased upon DNA damage, such as that produced by doxorubicin, etoposide, UV light and camptothecin, due to enhanced CBX4 phosphorylation by HIPK2 under these conditions.
  • Ubiquitinated by MDM2. Doxorubicin treatment does not affect monoubiquitination, but slightly decreases HNRNPK poly-ubiquitination.
  • Ubiquitination at isoforms=2, 334, isoforms=2, 352, isoforms=2, 3163, isoforms=2, 3179, posLast=198198, isoforms=456, and isoforms=461
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HNRNPK (hnRNP K)

No data available for DME Specific Peptides for HNRNPK Gene

Domains & Families for HNRNPK Gene

No data available for Gene Families and UniProtKB/Swiss-Prot for HNRNPK Gene

Function for HNRNPK Gene

Molecular function for HNRNPK Gene

UniProtKB/Swiss-Prot Function:
One of the major pre-mRNA-binding proteins. Binds tenaciously to poly(C) sequences. Likely to play a role in the nuclear metabolism of hnRNAs, particularly for pre-mRNAs that contain cytidine-rich sequences. Can also bind poly(C) single-stranded DNA. Plays an important role in p53/TP53 response to DNA damage, acting at the level of both transcription activation and repression. When sumoylated, acts as a transcriptional coactivator of p53/TP53, playing a role in p21/CDKN1A and 14-3-3 sigma/SFN induction (By similarity). As far as transcription repression is concerned, acts by interacting with long intergenic RNA p21 (lincRNA-p21), a non-coding RNA induced by p53/TP53. This interaction is necessary for the induction of apoptosis, but not cell cycle arrest.
UniProtKB/Swiss-Prot Induction:
By DNA damage, including ionizing radiations and phleomycin treatment or UV irradiation. This induction requires ATM kinase activity (ionizing radiations and phleomycin) or ATR activity (UV irradiation). Up-regulation is due to protein stabilization. Constitutive protein levels are controlled by MDM2-mediated ubiquitination and degradation via the proteasome pathway.

Gene Ontology (GO) - Molecular Function for HNRNPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IMP 20371611
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IMP 20371611
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding TAS 20371611
genes like me logo Genes that share ontologies with HNRNPK: view
genes like me logo Genes that share phenotypes with HNRNPK: view

Human Phenotype Ontology for HNRNPK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HNRNPK Gene

Localization for HNRNPK Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNRNPK Gene

Cytoplasm. Nucleus, nucleoplasm. Cell projection, podosome. Note=Recruited to p53/TP53-responsive promoters, in the presence of functional p53/TP53 (PubMed:16360036). In case of ASFV infection, there is a shift in the localization which becomes predominantly nuclear (PubMed:18775702).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HNRNPK gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 4
mitochondrion 2
cytosol 2

Gene Ontology (GO) - Cellular Components for HNRNPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 20371611
GO:0002102 podosome IEA --
GO:0005634 nucleus TAS 8107114
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
genes like me logo Genes that share ontologies with HNRNPK: view

Pathways & Interactions for HNRNPK Gene

genes like me logo Genes that share pathways with HNRNPK: view

Pathways by source for HNRNPK Gene

1 Cell Signaling Technology pathway for HNRNPK Gene
1 BioSystems pathway for HNRNPK Gene
1 Qiagen pathway for HNRNPK Gene

SIGNOR curated interactions for HNRNPK Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HNRNPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with HNRNPK: view

Drugs & Compounds for HNRNPK Gene

(1) Drugs for HNRNPK Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for HNRNPK Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HNRNPK: view

Transcripts for HNRNPK Gene

Unigene Clusters for HNRNPK Gene

Heterogeneous nuclear ribonucleoprotein K:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for HNRNPK Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18
SP1: -
SP2:
SP3:
SP4: - - - - - - - - - - -
SP5: -
SP6:
SP7:
SP8:
SP9: -

Relevant External Links for HNRNPK Gene

GeneLoc Exon Structure for
HNRNPK
ECgene alternative splicing isoforms for
HNRNPK

Expression for HNRNPK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HNRNPK Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HNRNPK Gene



Protein tissue co-expression partners for HNRNPK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HNRNPK Gene:

HNRNPK

SOURCE GeneReport for Unigene cluster for HNRNPK Gene:

Hs.522257

Evidence on tissue expression from TISSUES for HNRNPK Gene

  • Nervous system(5)
  • Liver(4.8)
  • Muscle(4.5)
  • Kidney(4.4)
  • Skin(4.3)
  • Blood(4.2)
  • Lung(4.2)
  • Intestine(4)
  • Eye(3.9)
  • Bone marrow(2.7)
  • Heart(2.6)
  • Stomach(2.4)
  • Adrenal gland(2.2)
  • Gall bladder(2.2)
  • Lymph node(2.2)
  • Pancreas(2.2)
  • Spleen(2.2)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with HNRNPK: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HNRNPK Gene

Orthologs for HNRNPK Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HNRNPK Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia HNRNPK 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HNRNPK 34
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
OneToMany
-- 35
  • 97 (a)
OneToMany
HNRNPK 34
  • 96.19 (n)
mouse
(Mus musculus)
Mammalia Gm7964 35
  • 98 (a)
OneToMany
Hnrnpk 34 16 35
  • 93.75 (n)
cow
(Bos Taurus)
Mammalia HNRNPK 34 35
  • 96.55 (n)
oppossum
(Monodelphis domestica)
Mammalia HNRNPK 35
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hnrnpk 34
  • 94.05 (n)
chicken
(Gallus gallus)
Aves HNRPK 35
  • 96 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HNRNPK 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75642 34
African clawed frog
(Xenopus laevis)
Amphibia hnrpk-prov 34
zebrafish
(Danio rerio)
Actinopterygii hnrpkl 35
  • 84 (a)
OneToMany
hnrnpk 35
  • 72 (a)
OneToMany
Dr.24225 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8484 34
fruit fly
(Drosophila melanogaster)
Insecta bl 35
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F26B1.2 35
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PBP2 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToOne
Species where no ortholog for HNRNPK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HNRNPK Gene

ENSEMBL:
Gene Tree for HNRNPK (if available)
TreeFam:
Gene Tree for HNRNPK (if available)

Paralogs for HNRNPK Gene

Paralogs for HNRNPK Gene

(3) SIMAP similar genes for HNRNPK Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with HNRNPK: view

Variants for HNRNPK Gene

Sequence variations from dbSNP and Humsavar for HNRNPK Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs767454980 Pathogenic 83,970,273(+) CTCCC(A/G/T)ACTCA upstream-variant-2KB, reference, missense, stop-gained
rs863223402 Pathogenic 83,971,880(-) GGGGG(-/G)TAAGT splice-donor-variant
rs863223403 Pathogenic 83,975,462(-) CGAGC(A/G)GTATG reference, missense
rs879255263 Pathogenic 83,971,903(-) TCCTC(-/TT)CACCA reference, frameshift-variant
rs886041807 Pathogenic 83,972,055(-) GGTGG(-/G)TTTTG reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for HNRNPK Gene

Variant ID Type Subtype PubMed ID
esv2759701 CNV gain 17122850
esv3620911 CNV gain 21293372
nsv1043703 CNV gain 25217958
nsv436717 OTHER inversion 17901297
nsv469859 CNV gain 16826518
nsv831644 CNV gain 17160897
nsv8541 CNV gain 18304495
nsv972408 CNV duplication 23825009

Variation tolerance for HNRNPK Gene

Residual Variation Intolerance Score: 12.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 5.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HNRNPK Gene

Human Gene Mutation Database (HGMD)
HNRNPK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HNRNPK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HNRNPK Gene

Disorders for HNRNPK Gene

MalaCards: The human disease database

(5) MalaCards diseases for HNRNPK Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
au-kline syndrome
  • neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion
  • 9q21 microdeletion syndrome
spinocerebellar ataxia 10
  • spinocerebellar ataxia type 10
stomatitis
hepatitis c virus
  • hepatitic c virus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HNRPK_HUMAN
  • Au-Kline syndrome (AUKS) [MIM:616580]: A disorder characterized by intellectual disability, facial dysmorphism, cardiac defects, and connective tissue and skeletal abnormalities. Dysmorphic features include long palpebral fissures, ptosis, a broad prominent nasal bridge, hypoplastic alae nasi, an open downturned mouth, ears with underdeveloped and thick helices, high palate, and a unique tongue with a prominent median crease. Hypotonia, hyporeflexia, and high pain tolerance are additional features. {ECO:0000269 PubMed:26173930}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HNRNPK

Human Genome Epidemiology (HuGE) Navigator
HNRNPK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HNRNPK
genes like me logo Genes that share disorders with HNRNPK: view

No data available for Genatlas for HNRNPK Gene

Publications for HNRNPK Gene

  1. PITK, a PP1 targeting subunit that modulates the phosphorylation of the transcriptional regulator hnRNP K. (PMID: 16564677) Kwiek N.C. … Haystead T.A.J. (Cell. Signal. 2006) 3 4 22 64
  2. hnRNP K: an HDM2 target and transcriptional coactivator of p53 in response to DNA damage. (PMID: 16360036) Moumen A. … Jackson S.P. (Cell 2005) 3 4 22 64
  3. Hepatitis C virus core protein interacts with heterogeneous nuclear ribonucleoprotein K. (PMID: 9651361) Hsieh T.-Y. … Lai M.M.C. (J. Biol. Chem. 1998) 3 4 22 64
  4. Identification, molecular cloning, expression and chromosome mapping of a family of transformation upregulated hnRNP-K proteins derived by alternative splicing. (PMID: 8107114) Dejgaard K. … Celis J.E. (J. Mol. Biol. 1994) 2 3 4 64
  5. Characterization and primary structure of the poly(C)-binding heterogeneous nuclear ribonucleoprotein complex K protein. (PMID: 1729596) Matunis M.J. … Dreyfuss G. (Mol. Cell. Biol. 1992) 3 4 22 64

Products for HNRNPK Gene

Sources for HNRNPK Gene

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