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

Gene ID: 3190, updated on 7-Apr-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
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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

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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