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    NARF nuclear prelamin A recognition factor [ Homo sapiens (human) ]

    Gene ID: 26502, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NARFprovided by HGNC
    Official Full Name
    nuclear prelamin A recognition factorprovided by HGNC
    Primary source
    HGNC:HGNC:29916
    See related
    Ensembl:ENSG00000141562 MIM:605349; AllianceGenome:HGNC:29916
    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
    IOP2
    Summary
    Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 13.2), testis (RPKM 12.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NARF in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82458198..82490537)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (83327121..83359460)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (80416074..80448413)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904091 Neighboring gene HEXD intronic transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80396877-80397376 Neighboring gene hexosaminidase D Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80397599-80398386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13010 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80416539-80417371 Neighboring gene cytochrome b-245 chaperone 1 Neighboring gene NARF antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13011 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:80452439-80452776 Neighboring gene tRNA-iMet (anticodon CAT) 1-8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9218 Neighboring gene Sharpr-MPRA regulatory region 5709 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80493259-80493844 Neighboring gene forkhead box K2 Neighboring gene Sharpr-MPRA regulatory region 7485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80510130-80510754 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:80511221-80511392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80520843-80521344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80521345-80521844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80524020-80524908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80528855-80529354 Neighboring gene ARF like GTPase 2 binding protein pseudogene 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Posttranslational modification of proteins by isoprenoids in mammalian cells. Maltese WA. FASEB J, 1990 Dec. PMID 2123808
    2. Eukaryotic Fe-hydrogenases -- old eukaryotic heritage or adaptive acquisitions? Hackstein JH. Biochem Soc Trans, 2005 Feb. PMID 15667261
    3. Nuclear prelamin a recognition factor and iron dysregulation in multiple sclerosis. Ding D, et al. Metab Brain Dis, 2020 Feb. PMID 31823109
    4. Pre-Lamin A processing is linked to heterochromatin organization. Lattanzi G, et al. J Cell Biochem, 2007 Dec 1. PMID 17654502
    5. RNA-editing-mediated exon evolution. Lev-Maor G, et al. Genome Biol, 2007. PMID 17326827, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NARF is a hypoxia-induced coactivator for OCT4-mediated breast cancer stem cell specification.
      Title: NARF is a hypoxia-induced coactivator for OCT4-mediated breast cancer stem cell specification.
    2. Nuclear prelamin a recognition factor and iron dysregulation in multiple sclerosis.
      Title: Nuclear prelamin a recognition factor and iron dysregulation in multiple sclerosis.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Convergent animal and human evidence suggests a role of PPM1A gene in response to antidepressants.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Data suggest that gorilla, chimpanzee, and human nuclear prelamin A recognition factor genes exemplify the versatile interplay of pre- and posttranscriptional modifications leading to novel genetic potential.
      Title: Beyond DNA: RNA editing and steps toward Alu exonization in primates.
    6. Prelamin A processing is linked to heterochromatin organization.
      Title: Pre-Lamin A processing is linked to heterochromatin organization.
    7. RNA editing enables exonization of a nuclear prelamin A recognition factor Alu-exon.
      Title: RNA-editing-mediated exon evolution.
    8. Creation of a novel Alu-exon and elimination of a premature stop codon by RNA editing.
      Title: RNA-editing-mediated exon evolution.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol In both human and mouse fibroblasts, HIV-1 protease inhibitors inhibit ZMPSTE24, resulting in a significant accumulation of prelamin A, suggesting the interaction between HIV-1 PR and prelamin A PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10067, DKFZp434G0420

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lamin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lamin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in lamin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lamin filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear lamina TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    nuclear prelamin A recognition factor
    Names
    iron-only hydrogenase-like protein 2
    prenyl-dependent prelamin A binding protein

    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_001038618.3 → NP_001033707.1  nuclear prelamin A recognition factor isoform c

      See identical proteins and their annotated locations for NP_001033707.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' end exon compared to transcript variant 1, resulting in translation initiation from an in-frame downstream AUG, and an isoform (c) with a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AA568571, AC124287, AF128406, AK056966
      Consensus CDS
      CCDS42404.1
      UniProtKB/Swiss-Prot
      Q9UHQ1
      Related
      ENSP00000374656.4, ENST00000390006.8
      Conserved Domains (2) summary
      smart00902
      Location:339 → 387
      Fe_hyd_SSU; Iron hydrogenase small subunit
      pfam02906
      Location:33 → 325
      Fe_hyd_lg_C; Iron only hydrogenase large subunit, C-terminal domain

    2. NM_001083608.2 → NP_001077077.1  nuclear prelamin A recognition factor isoform d

      See identical proteins and their annotated locations for NP_001077077.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is missing an in-frame coding exon compared to transcript variant 1, resulting in an isoform (d) that is lacking a 48 aa protein segment compared to isoform a.
      Source sequence(s)
      AC124287, AF128406, BC016440, DB123829
      Consensus CDS
      CCDS42403.1
      UniProtKB/TrEMBL
      E7EP87
      Related
      ENSP00000283996.9, ENST00000345415.11
      Conserved Domains (2) summary
      smart00902
      Location:350 → 398
      Fe_hyd_SSU; Iron hydrogenase small subunit
      pfam02906
      Location:44 → 336
      Fe_hyd_lg_C; Iron only hydrogenase large subunit, C-terminal domain

    3. NM_012336.4 → NP_036468.1  nuclear prelamin A recognition factor isoform a

      See identical proteins and their annotated locations for NP_036468.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (a).
      Source sequence(s)
      AC124287, AF128406, DB123829
      Consensus CDS
      CCDS32777.1
      UniProtKB/Swiss-Prot
      A6NCJ3, B3KPX2, K4DI98, Q96AY9, Q9BWC6, Q9UHQ1
      UniProtKB/TrEMBL
      E7EP87
      Related
      ENSP00000309899.10, ENST00000309794.16
      Conserved Domains (3) summary
      smart00902
      Location:398 → 446
      Fe_hyd_SSU; Iron hydrogenase small subunit
      COG4624
      Location:34 → 445
      Nar1; Iron only hydrogenase large subunit, C-terminal domain [Energy production and conversion]
      pfam02906
      Location:92 → 384
      Fe_hyd_lg_C; Iron only hydrogenase large subunit, C-terminal domain

    4. NM_031968.2 → NP_114174.1  nuclear prelamin A recognition factor isoform b

      See identical proteins and their annotated locations for NP_114174.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional in-frame coding exon created by exonization of Alu sequence, and elimination of a premature stop codon by RNA editing (PMID:17326827), compared to transcript variant 1. This results in an isoform (b) that contains a 46 aa protein segment that is missing from isoform a.
      Source sequence(s)
      AF128406, BC000438, DB123829
      UniProtKB/TrEMBL
      E7EP87
      Related
      ENSP00000414678.3, ENST00000457415.7
      Conserved Domains (3) summary
      smart00902
      Location:444 → 492
      Fe_hyd_SSU; Iron hydrogenase small subunit
      COG4624
      Location:34 → 491
      Nar1; Iron only hydrogenase large subunit, C-terminal domain [Energy production and conversion]
      pfam02906
      Location:92 → 430
      Fe_hyd_lg_C; Iron only hydrogenase large subunit, C-terminal domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      82458198..82490537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256340.5 → XP_005256397.1  nuclear prelamin A recognition factor isoform X2

      See identical proteins and their annotated locations for XP_005256397.1

      UniProtKB/Swiss-Prot
      Q9UHQ1
      Conserved Domains (2) summary
      smart00902
      Location:339 → 387
      Fe_hyd_SSU; Iron hydrogenase small subunit
      pfam02906
      Location:33 → 325
      Fe_hyd_lg_C; Iron only hydrogenase large subunit, C-terminal domain

    2. XM_011523541.3 → XP_011521843.1  nuclear prelamin A recognition factor isoform X2

      See identical proteins and their annotated locations for XP_011521843.1

      UniProtKB/Swiss-Prot
      Q9UHQ1
      Conserved Domains (2) summary
      smart00902
      Location:339 → 387
      Fe_hyd_SSU; Iron hydrogenase small subunit
      pfam02906
      Location:33 → 325
      Fe_hyd_lg_C; Iron only hydrogenase large subunit, C-terminal domain

    3. XM_006722278.5 → XP_006722341.1  nuclear prelamin A recognition factor isoform X1

      UniProtKB/TrEMBL
      E7EP87
      Conserved Domains (3) summary
      smart00902
      Location:353 → 401
      Fe_hyd_SSU; Iron hydrogenase small subunit
      COG4624
      Location:34 → 400
      Nar1; Iron only hydrogenase large subunit, C-terminal domain [Energy production and conversion]
      pfam02906
      Location:92 → 339
      Fe_hyd_lg_C; Iron only hydrogenase large subunit, C-terminal domain

    4. XM_047435747.1 → XP_047291703.1  nuclear prelamin A recognition factor isoform X3

    RNA

    1. XR_007065290.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      83327121..83359460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315715.1 → XP_054171690.1  nuclear prelamin A recognition factor isoform X2

    2. XM_054315714.1 → XP_054171689.1  nuclear prelamin A recognition factor isoform X1

      UniProtKB/TrEMBL
      E7EP87

    3. XM_054315716.1 → XP_054171691.1  nuclear prelamin A recognition factor isoform X2

    4. XM_054315717.1 → XP_054171692.1  nuclear prelamin A recognition factor isoform X3

    RNA

    1. XR_008484805.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHQ1.1 GenPept UniProtKB/Swiss-Prot:Q9UHQ1

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