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

Gene ID: 27231, updated on 5-Mar-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, Apr 2022]
Expression
Restricted expression toward heart (RPKM 167.4) See more
Orthologs
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Genomic context

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Location:
19p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3933069..3942416)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3912360..3921653)
105.20220307 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. 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
  2. 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
  3. 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
  4. 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
  5. Nicotinamide riboside kinase structures reveal new pathways to NAD+. Tempel W, et al. PLoS Biol, 2007 Oct 2. PMID 17914902, Free PMC Article

See all (15) 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)

Genotypes

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 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
  
involved_in phosphorylation 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_2023_10

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

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