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    NMRK2 nicotinamide riboside kinase 2 [ Homo sapiens (human) ]

    Gene ID: 27231, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NMRK2provided by HGNC
    Official Full Name
    nicotinamide riboside kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:17871
    See related
    Ensembl:ENSG00000077009 MIM:608705; AllianceGenome:HGNC:17871
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIBP; NRK2; ITGB1BP3
    Summary
    Enables ribosylnicotinamide kinase activity and ribosylnicotinate kinase activity. Predicted to be involved in NAD metabolic process. Predicted to act upstream of or within negative regulation of myoblast differentiation. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward heart (RPKM 167.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See NMRK2 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3933069..3942416)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3912360..3921653)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3933067..3942414)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3871123-3871622 Neighboring gene Sharpr-MPRA regulatory region 13254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3880358-3880888 Neighboring gene ferritin light chain pseudogene 5 Neighboring gene ATCAY kinesin light chain interacting caytaxin Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3912272-3912471 Neighboring gene RNA, 7SL, cytoplasmic 202, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3938329-3939088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3951361-3952130 Neighboring gene death associated protein kinase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:3969519-3970148 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3970149-3970780 Neighboring gene microRNA 637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3981471-3982322 Neighboring gene eukaryotic translation elongation factor 2 Neighboring gene small nucleolar RNA, C/D box 37

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. LncRNA like NMRK2 mRNA functions as a key molecular scaffold to enhance mitochondrial respiration of NONO-TFE3 rearranged renal cell carcinoma in an NAD(+) kinase-independent manner. Chen Y, et al. J Exp Clin Cancer Res, 2023 Sep 28. PMID 37770905, Free PMC Article
    2. Up-regulation of NMRK2 mediated by TFE3 fusions is the key for energy metabolism adaption of Xp11.2 translocation renal cell carcinoma. Chen Y, et al. Cancer Lett, 2022 Jul 10. PMID 35447281
    3. Discoveries of nicotinamide riboside as a nutrient and conserved NRK genes establish a Preiss-Handler independent route to NAD+ in fungi and humans. Bieganowski P, et al. Cell, 2004 May 14. PMID 15137942
    4. The muscle integrin binding protein (MIBP) interacts with alpha7beta1 integrin and regulates cell adhesion and laminin matrix deposition. Li J, et al. Dev Biol, 2003 Sep 1. PMID 12941630
    5. A novel muscle-specific beta 1 integrin binding protein (MIBP) that modulates myogenic differentiation. Li J, et al. J Cell Biol, 1999 Dec 27. PMID 10613898, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA like NMRK2 mRNA functions as a key molecular scaffold to enhance mitochondrial respiration of NONO-TFE3 rearranged renal cell carcinoma in an NAD[+] kinase-independent manner.
      Title: LncRNA like NMRK2 mRNA functions as a key molecular scaffold to enhance mitochondrial respiration of NONO-TFE3 rearranged renal cell carcinoma in an NAD(+) kinase-independent manner.
    2. Up-regulation of NMRK2 mediated by TFE3 fusions is the key for energy metabolism adaption of Xp11.2 translocation renal cell carcinoma.
      Title: Up-regulation of NMRK2 mediated by TFE3 fusions is the key for energy metabolism adaption of Xp11.2 translocation renal cell carcinoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126624

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nicotinate riboside kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosylnicotinamide kinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables ribosylnicotinamide kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ribosylnicotinate kinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in NAD biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in NAD metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of myoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    nicotinamide riboside kinase 2
    Names
    NRK 2
    RNK 2
    integrin beta-1-binding protein 3
    muscle-specific beta 1 integrin binding protein
    nicotinic acid riboside kinase 2
    nmR-K 2
    ribosylnicotinamide kinase 2
    ribosylnicotinic acid kinase 2
    NP_001276046.1
    NP_001362396.1
    NP_001362397.1
    NP_001362398.1
    NP_733778.1
    XP_006722788.1
    XP_054176547.1
    XP_054176548.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001289117.2 → NP_001276046.1  nicotinamide riboside kinase 2 isoform 1

      See identical proteins and their annotated locations for NP_001276046.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC011488, AK001663, BC143329, BM669267
      Consensus CDS
      CCDS74259.1
      UniProtKB/Swiss-Prot
      Q9NPI5
      Related
      ENSP00000480091.1, ENST00000616156.4
      Conserved Domains (1) summary
      cd02024
      Location:4 → 169
      NRK1; Nicotinamide riboside kinase (NRK) is an enzyme involved in the metabolism of nicotinamide adenine dinucleotide (NAD+). This enzyme catalyzes the phosphorylation of nicotinamide riboside (NR) to form nicotinamide mononucleotide (NMN). It defines the NR ...

    2. NM_001375467.2 → NP_001362396.1  nicotinamide riboside kinase 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC011488
      Conserved Domains (1) summary
      cd02024
      Location:4 → 140
      NRK1; Nicotinamide riboside kinase (NRK) is an enzyme involved in the metabolism of nicotinamide adenine dinucleotide (NAD+). This enzyme catalyzes the phosphorylation of nicotinamide riboside (NR) to form nicotinamide mononucleotide (NMN). It defines the NR ...

    3. NM_001375468.2 → NP_001362397.1  nicotinamide riboside kinase 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC011488
      Conserved Domains (1) summary
      cd02024
      Location:4 → 137
      NRK1; Nicotinamide riboside kinase (NRK) is an enzyme involved in the metabolism of nicotinamide adenine dinucleotide (NAD+). This enzyme catalyzes the phosphorylation of nicotinamide riboside (NR) to form nicotinamide mononucleotide (NMN). It defines the NR ...

    4. NM_001375469.2 → NP_001362398.1  nicotinamide riboside kinase 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC011488
      Conserved Domains (1) summary
      cd02024
      Location:4 → 132
      NRK1; Nicotinamide riboside kinase (NRK) is an enzyme involved in the metabolism of nicotinamide adenine dinucleotide (NAD+). This enzyme catalyzes the phosphorylation of nicotinamide riboside (NR) to form nicotinamide mononucleotide (NMN). It defines the NR ...

    5. NM_170678.3 → NP_733778.1  nicotinamide riboside kinase 2 isoform 2

      See identical proteins and their annotated locations for NP_733778.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC011488, AK001663, BM669267
      Consensus CDS
      CCDS12115.1
      UniProtKB/Swiss-Prot
      B7ZKR3, Q52M81, Q9NPI5, Q9NZK3
      Related
      ENSP00000168977.1, ENST00000168977.7
      Conserved Domains (1) summary
      cd02024
      Location:4 → 164
      NRK1; Nicotinamide riboside kinase (NRK) is an enzyme involved in the metabolism of nicotinamide adenine dinucleotide (NAD+). This enzyme catalyzes the phosphorylation of nicotinamide riboside (NR) to form nicotinamide mononucleotide (NMN). It defines the NR ...

    RNA

    1. NR_110316.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC011488
      Related
      ENST00000599576.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      3933069..3942416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722725.4 → XP_006722788.1  nicotinamide riboside kinase 2 isoform X1

      Conserved Domains (1) summary
      cd02024
      Location:4 → 145
      NRK1; Nicotinamide riboside kinase (NRK) is an enzyme involved in the metabolism of nicotinamide adenine dinucleotide (NAD+). This enzyme catalyzes the phosphorylation of nicotinamide riboside (NR) to form nicotinamide mononucleotide (NMN). It defines the NR ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      3912360..3921653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320572.1 → XP_054176547.1  nicotinamide riboside kinase 2 isoform X2

      UniProtKB/Swiss-Prot
      B7ZKR3, Q52M81, Q9NPI5, Q9NZK3

    2. XM_054320573.1 → XP_054176548.1  nicotinamide riboside kinase 2 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014446.1: Suppressed sequence

      Description
      NM_014446.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPI5.1 GenPept UniProtKB/Swiss-Prot:Q9NPI5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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