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    HNRNPK heterogeneous nuclear ribonucleoprotein K [ Homo sapiens (human) ]

    Gene ID: 3190, updated on 5-May-2024

    Summary

    Official Symbol
    HNRNPKprovided by HGNC
    Official Full Name
    heterogeneous nuclear ribonucleoprotein Kprovided by HGNC
    Primary source
    HGNC:HGNC:5044
    See related
    Ensembl:ENSG00000165119 MIM:600712; AllianceGenome:HGNC:5044
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AUKS; CSBP; TUNP; HNRPK
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 179.3), lymph node (RPKM 145.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    9q21.32
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (83968083..83980615, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (96118364..96130896, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (86582998..86595530, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 27 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:86535879-86536628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:86537243-86537747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86577603-86578233 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86595393-86595900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28497 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86595901-86596409 Neighboring gene HNRNPK antisense RNA 1 Neighboring gene Q-nucleotide N-glycosylase 1 Neighboring gene microRNA 7-1 Neighboring gene RecQ mediated genome instability 1 Neighboring gene uncharacterized LOC101927575 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 33 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:86766071-86767007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:86787894-86788403 Neighboring gene Sharpr-MPRA regulatory region 11289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19983 Neighboring gene NANOG hESC enhancer GRCh37_chr9:86891619-86892170 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:86892303-86893502 Neighboring gene SLC28A3 regulatory antisense RNA 1 Neighboring gene solute carrier family 28 member 3

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Au-Kline syndrome
    MedGen: C4225274 OMIM: 616580 GeneReviews: Au-Kline Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-08-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-08-23)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein K (HNRNPK, TUNP), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein K (HNRNPK, TUNP), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein K (HNRNPK, TUNP), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    nef The Nef/hnRNPK/PKC-delta/Hck protein complex activates Pak2 activity but inhibits Pak1 activity, which induces paxillin phosphorylation on Ser272/274 and regulates paxillin/TACE association and secretion PubMed
    nef The Nef/hnRNPK/PKC-delta/Hck protein complex increases paxillin phosphorylation at Y118 and activates and secretes TACE through Erk1/2 activation PubMed
    nef In the context of Nef-associated kinase complex (NAKC), hnRNP-K interacts with HIV-1 Nef and recruits LCK, PKCdelta, and PI-3 kinase. The proline-rich domain (amino-acids 289-315) of hnRNP-K is required for the recruitment of activated LCK PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein K (HNRNPK, TUNP), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Rev rev HIV-1 Rev interacts with the heterogeneous nuclear ribonucleoproteins (hnRNP) K. The amino acids 9-14 in Rev are required for the interaction between Rev and hnRNP K PubMed
    rev hnRNP K forms a complex with Sam68 and HIV-1 RRE RNA and inhibits Sam68-mediated, RRE-dependent gene expression suggesting a possible interaction with Rev PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ41122

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables cadherin binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA processing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of mRNA splicing, via spliceosome IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of positive regulation of low-density lipoprotein receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of positive regulation of receptor-mediated endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of regulation of low-density lipoprotein particle clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic stress granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in podosome IEA
    Inferred from Electronic Annotation
    more info
     
    part_of ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    heterogeneous nuclear ribonucleoprotein K
    Names
    dC-stretch binding protein
    transformation upregulated nuclear protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029577.1 RefSeqGene

      Range
      5440..17572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318186.2NP_001305115.1  heterogeneous nuclear ribonucleoprotein K isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks an alternate in-frame exon in the coding region and uses an alternate acceptor splice site at the last coding exon compared to transcript variant 1. It encodes isoform c, which is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AB209562, AK300744, AL354733, BU736090, DC318847
      Consensus CDS
      CCDS94425.1
      UniProtKB/TrEMBL
      A0A994J4E9, B4DUQ1
      Related
      ENSP00000515626.1, ENST00000704013.1
      Conserved Domains (4) summary
      pfam08067
      Location:443
      ROKNT; ROKNT (NUC014) domain
      cd22432
      Location:42105
      KH-I_HNRNPK_rpt1; first type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22433
      Location:120189
      KH-I_HNRNPK_rpt2; second type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22434
      Location:363436
      KH-I_HNRNPK_rpt3; third type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
    2. NM_001318187.2NP_001305116.1  heterogeneous nuclear ribonucleoprotein K isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate in-frame exon in the coding region compared to transcript variant 1. It encodes isoform d, which is shorter than isoform a.
      Source sequence(s)
      AB209562, AL354733, BU736090, DC318847
      Consensus CDS
      CCDS94426.1
      UniProtKB/TrEMBL
      A0A994J4E9
      Related
      ENSP00000409456.2, ENST00000457156.6
      Conserved Domains (4) summary
      pfam08067
      Location:443
      ROKNT; ROKNT (NUC014) domain
      cd22432
      Location:42105
      KH-I_HNRNPK_rpt1; first type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22433
      Location:120189
      KH-I_HNRNPK_rpt2; second type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22434
      Location:363436
      KH-I_HNRNPK_rpt3; third type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
    3. NM_001318188.2NP_001305117.1  heterogeneous nuclear ribonucleoprotein K isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate acceptor splice site at the last coding exon compared to transcript variant 1. This results in a frame-shift and an isoform (b) with a distinct C-terminus compared to isoform a. Transcript variants 3 and 4 encode the same isoform (b).
      Source sequence(s)
      AB209562, BC025321, BU736090, DC318847
      Consensus CDS
      CCDS6667.1
      UniProtKB/Swiss-Prot
      P61978, Q07244, Q15671, Q59F98, Q5T6W4, Q60577, Q6IBN1, Q922Y7, Q96J62
      UniProtKB/TrEMBL
      A0A994J782
      Related
      ENSP00000353552.5, ENST00000360384.9
      Conserved Domains (4) summary
      pfam08067
      Location:443
      ROKNT; ROKNT (NUC014) domain
      cd22432
      Location:42105
      KH-I_HNRNPK_rpt1; first type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22433
      Location:144213
      KH-I_HNRNPK_rpt2; second type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22434
      Location:387460
      KH-I_HNRNPK_rpt3; third type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
    4. NM_002140.5NP_002131.2  heterogeneous nuclear ribonucleoprotein K isoform a

      See identical proteins and their annotated locations for NP_002131.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Transcript variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AB209562, BC000355, BU736090, DC428989
      Consensus CDS
      CCDS6668.1
      UniProtKB/TrEMBL
      Q5EC54
      Related
      ENSP00000365458.4, ENST00000376281.8
      Conserved Domains (4) summary
      pfam08067
      Location:443
      ROKNT; ROKNT (NUC014) domain
      cd22432
      Location:42105
      KH-I_HNRNPK_rpt1; first type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22433
      Location:144213
      KH-I_HNRNPK_rpt2; second type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22434
      Location:387460
      KH-I_HNRNPK_rpt3; third type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
    5. NM_031262.4NP_112552.1  heterogeneous nuclear ribonucleoprotein K isoform b

      See identical proteins and their annotated locations for NP_112552.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate acceptor splice site at the last coding exon compared to transcript variant 1. This results in a frame-shift and an isoform (b) with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AB209562, BC014980, BU736090, DC428989
      Consensus CDS
      CCDS6667.1
      UniProtKB/Swiss-Prot
      P61978, Q07244, Q15671, Q59F98, Q5T6W4, Q60577, Q6IBN1, Q922Y7, Q96J62
      UniProtKB/TrEMBL
      A0A994J782
      Related
      ENSP00000515623.1, ENST00000704010.1
      Conserved Domains (4) summary
      pfam08067
      Location:443
      ROKNT; ROKNT (NUC014) domain
      cd22432
      Location:42105
      KH-I_HNRNPK_rpt1; first type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22433
      Location:144213
      KH-I_HNRNPK_rpt2; second type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22434
      Location:387460
      KH-I_HNRNPK_rpt3; third type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
    6. NM_031263.4NP_112553.1  heterogeneous nuclear ribonucleoprotein K isoform a

      See identical proteins and their annotated locations for NP_112553.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' non-coding exon, hence has a different 5' UTR compared to transcript variant 1. Transcript variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AB209562, BC000355, BU736090, DC318847
      Consensus CDS
      CCDS6668.1
      UniProtKB/TrEMBL
      Q5EC54
      Related
      ENSP00000365439.3, ENST00000376263.8
      Conserved Domains (4) summary
      pfam08067
      Location:443
      ROKNT; ROKNT (NUC014) domain
      cd22432
      Location:42105
      KH-I_HNRNPK_rpt1; first type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22433
      Location:144213
      KH-I_HNRNPK_rpt2; second type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22434
      Location:387460
      KH-I_HNRNPK_rpt3; third type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      83968083..83980615 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251963.5XP_005252020.1  heterogeneous nuclear ribonucleoprotein K isoform X2

      See identical proteins and their annotated locations for XP_005252020.1

      UniProtKB/TrEMBL
      A0A994J4E9
      Related
      ENSP00000515659.1, ENST00000704056.1
      Conserved Domains (4) summary
      pfam08067
      Location:443
      ROKNT; ROKNT (NUC014) domain
      cd22432
      Location:42105
      KH-I_HNRNPK_rpt1; first type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22433
      Location:120189
      KH-I_HNRNPK_rpt2; second type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22434
      Location:363436
      KH-I_HNRNPK_rpt3; third type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
    2. XM_005251965.4XP_005252022.1  heterogeneous nuclear ribonucleoprotein K isoform X2

      See identical proteins and their annotated locations for XP_005252022.1

      UniProtKB/TrEMBL
      A0A994J4E9
      Related
      ENSP00000515617.1, ENST00000704004.1
      Conserved Domains (4) summary
      pfam08067
      Location:443
      ROKNT; ROKNT (NUC014) domain
      cd22432
      Location:42105
      KH-I_HNRNPK_rpt1; first type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22433
      Location:120189
      KH-I_HNRNPK_rpt2; second type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22434
      Location:363436
      KH-I_HNRNPK_rpt3; third type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
    3. XM_005251960.3XP_005252017.1  heterogeneous nuclear ribonucleoprotein K isoform X1

      See identical proteins and their annotated locations for XP_005252017.1

      UniProtKB/TrEMBL
      Q5EC54
      Related
      ENSP00000515624.1, ENST00000704011.1
      Conserved Domains (4) summary
      pfam08067
      Location:443
      ROKNT; ROKNT (NUC014) domain
      cd22432
      Location:42105
      KH-I_HNRNPK_rpt1; first type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22433
      Location:144213
      KH-I_HNRNPK_rpt2; second type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins
      cd22434
      Location:387460
      KH-I_HNRNPK_rpt3; third type I K homology (KH) RNA-binding domain found in heterogeneous nuclear ribonucleoprotein K (hnRNP K) and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      96118364..96130896 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362856.1XP_054218831.1  heterogeneous nuclear ribonucleoprotein K isoform X2

    2. XM_054362857.1XP_054218832.1  heterogeneous nuclear ribonucleoprotein K isoform X2

    3. XM_054362855.1XP_054218830.1  heterogeneous nuclear ribonucleoprotein K isoform X1