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NMRAL1 NmrA like redox sensor 1 [ Homo sapiens (human) ]

Gene ID: 57407, updated on 3-Apr-2024

Summary

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Official Symbol
NMRAL1provided by HGNC
Official Full Name
NmrA like redox sensor 1provided by HGNC
Primary source
HGNC:HGNC:24987
See related
Ensembl:ENSG00000153406 MIM:620004; AllianceGenome:HGNC:24987
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
HSCARG; SDR48A1
Summary
This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Expression
Ubiquitous expression in prostate (RPKM 6.2), ovary (RPKM 6.2) and 25 other tissues See more
Orthologs
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Genomic context

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See NMRAL1 in Genome Data Viewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4461694..4476337, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4491230..4505858, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4511695..4526338, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903635 Neighboring gene DnaJ heat shock protein family (Hsp40) member A3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4499977-4500772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4505719-4506689 Neighboring gene MPRA-validated peak2472 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4516031-4516532 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4526195-4526696 Neighboring gene uncharacterized LOC124903636 Neighboring gene heme oxygenase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:4543888-4544077 Neighboring gene Sharpr-MPRA regulatory region 9698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4563218-4563745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4563746-4564272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4564273-4564800 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4571909-4572773 Neighboring gene cell death inducing p53 target 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4579080-4579732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4579733-4580384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7153 Neighboring gene chromosome 16 open reading frame 96

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. Functional variant rs2270363 on 16p13.3 confers schizophrenia risk by regulating NMRAL1. Wang J, et al. Brain, 2022 Jul 29. PMID 35094059, Free PMC Article
  2. HSCARG inhibits NADPH oxidase activity through regulation of the expression of p47phox. Xiao W, et al. PLoS One, 2013. PMID 23527155, Free PMC Article
  3. HSCARG inhibits activation of NF-kappaB by interacting with IkappaB kinase-beta. Gan Q, et al. J Cell Sci, 2009 Nov 15. PMID 19843583
  4. NADPH is an allosteric regulator of HSCARG. Dai X, et al. J Mol Biol, 2009 Apr 17. PMID 19254724
  5. Protein expression, crystallization and preliminary X-ray crystallographic studies on HSCARG from Homo sapiens. Dai X, et al. Protein Pept Lett, 2006. PMID 17100653

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Functional variant rs2270363 on 16p13.3 confers schizophrenia risk by regulating NMRAL1.
    Title: Functional variant rs2270363 on 16p13.3 confers schizophrenia risk by regulating NMRAL1.
  2. Investigated the role of NmrA like redox sensor 1 (HSCARG), a cellular redox sensor. Demonstrated how HSCARG interacts with proliferating cell nuclear antigen (PCNA) in the translesion synthesis pathway, and showed that HSCARG, which is highly expressed in breast carcinoma, promotes accumulation of double stranded breaks and mutations.
    Title: Cellular redox sensor HSCARG negatively regulates the translesion synthesis pathway and exacerbates mammary tumorigenesis.
  3. These findings suggest that the increased susceptibility of the G6PD-knockdown cells to viral infection was due to impaired NF-kappaB signaling and antiviral response mediated by HSCARG.
    Title: Glucose-6-Phosphate Dehydrogenase Enhances Antiviral Response through Downregulation of NADPH Sensor HSCARG and Upregulation of NF-κB Signaling.
  4. After viral infection, HSCARG interacted with tumor necrosis receptor-associated factor 3 (TRAF3) and inhibited its ubiquitination by promoting the recruitment of OTUB1 to TRAF3.
    Title: HSCARG negatively regulates the cellular antiviral RIG-I like receptor signaling pathway by inhibiting TRAF3 ubiquitination via recruiting OTUB1.
  5. Data indicate that HSCARG and USP7 function in concert in inhibiting polyubiquination of NEMO, thus inhibiting NF-kappaB activity.
    Title: HSCARG downregulates NF-κB signaling by interacting with USP7 and inhibiting NEMO ubiquitination.
  6. HSCARG is involved in DNA damage response through affecting the level of H2A ubiquitination and localization of RAP80 at lesion points.
    Title: HSCARG, a novel regulator of H2A ubiquitination by downregulating PRC1 ubiquitin E3 ligase activity, is essential for cell proliferation.
  7. HSCARG regulated reactive-oxygen-species homeostasis through inhibition of NADPH oxidase activity via regulation of the expression of p47phox.
    Title: HSCARG inhibits NADPH oxidase activity through regulation of the expression of p47phox.
  8. CRM1 dependent nucleocytoplasmic translocation of HSCARG plays an important role in fine-tuning NF-kappaB signaling
    Title: A CRM1-dependent nuclear export signal controls nucleocytoplasmic translocation of HSCARG, which regulates NF-κB activity.
  9. HSCARG is involved in the NF-kappaB signaling pathway, and negatively regulates NF-kappaB activation.
    Title: HSCARG inhibits activation of NF-kappaB by interacting with IkappaB kinase-beta.
  10. HSCARG plays critical roles in regulation of NF-kappaB in response to cellular redox changes by promoting ubiquitination and proteolysis of RelA or COMMD1
    Title: HSCARG regulates NF-kappaB activation by promoting the ubiquitination of RelA or COMMD1.
Submit: New GeneRIF Correction See all GeneRIFs (14)

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

  • FLJ25918

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
nmrA-like family domain-containing protein 1
Names
NmrA-like family domain containing 1
epididymis secretory sperm binding protein
short chain dehydrogenase/reductase family 48A, member 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_001305141.3 → NP_001292070.1  nmrA-like family domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001292070.1

    Status: REVIEWED

    Source sequence(s)
    BC002927, HY171572
    Consensus CDS
    CCDS10516.1
    UniProtKB/Swiss-Prot
    Q9HBL8
    UniProtKB/TrEMBL
    A0A384P622
    Related
    ENSP00000383962.3, ENST00000404295.7
    Conserved Domains (1) summary
    cd08947
    Location:7 → 241
    NmrA_TMR_like_SDR_a; NmrA (a transcriptional regulator), HSCARG (an NADPH sensor), and triphenylmethane reductase (TMR) like proteins, atypical (a) SDRs

  2. NM_001305142.3 → NP_001292071.1  nmrA-like family domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001292071.1

    Status: REVIEWED

    Source sequence(s)
    AC012676, AK098784, HY171572
    Consensus CDS
    CCDS10516.1
    UniProtKB/Swiss-Prot
    Q9HBL8
    UniProtKB/TrEMBL
    A0A384P622
    Related
    ENSP00000460263.1, ENST00000574425.5
    Conserved Domains (1) summary
    cd08947
    Location:7 → 241
    NmrA_TMR_like_SDR_a; NmrA (a transcriptional regulator), HSCARG (an NADPH sensor), and triphenylmethane reductase (TMR) like proteins, atypical (a) SDRs

  3. NM_001351994.2 → NP_001338923.1  nmrA-like family domain-containing protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC007606, AC012676
    Consensus CDS
    CCDS10516.1
    UniProtKB/Swiss-Prot
    Q9HBL8
    UniProtKB/TrEMBL
    A0A384P622
    Conserved Domains (1) summary
    cd08947
    Location:7 → 241
    NmrA_TMR_like_SDR_a; NmrA (a transcriptional regulator), HSCARG (an NADPH sensor), and triphenylmethane reductase (TMR) like proteins, atypical (a) SDRs

  4. NM_001351995.2 → NP_001338924.1  nmrA-like family domain-containing protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC007606, AC012676
    Conserved Domains (1) summary
    cl25409
    Location:30 → 178
    SDR; Short-chain dehydrogenases/reductases (SDR)

  5. NM_001351996.2 → NP_001338925.1  nmrA-like family domain-containing protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC007606, AC012676
    UniProtKB/TrEMBL
    I3L0Y6
    Conserved Domains (1) summary
    cd05251
    Location:7 → 175
    NmrA_like_SDR_a; NmrA (a transcriptional regulator) and HSCARG (an NADPH sensor) like proteins, atypical (a) SDRs

  6. NM_020677.6 → NP_065728.1  nmrA-like family domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_065728.1

    Status: REVIEWED

    Source sequence(s)
    AF225419
    Consensus CDS
    CCDS10516.1
    UniProtKB/Swiss-Prot
    Q9HBL8
    UniProtKB/TrEMBL
    A0A384P622
    Related
    ENSP00000283429.6, ENST00000283429.11
    Conserved Domains (1) summary
    cd08947
    Location:7 → 241
    NmrA_TMR_like_SDR_a; NmrA (a transcriptional regulator), HSCARG (an NADPH sensor), and triphenylmethane reductase (TMR) like proteins, atypical (a) SDRs

RNA

  1. NR_147845.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007606, AC012676

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    4461694..4476337 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434386.1 → XP_047290342.1  nmrA-like family domain-containing protein 1 isoform X5

  2. XM_047434382.1 → XP_047290338.1  nmrA-like family domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9HBL8
    UniProtKB/TrEMBL
    A0A384P622

  3. XM_047434387.1 → XP_047290343.1  nmrA-like family domain-containing protein 1 isoform X5

  4. XM_047434381.1 → XP_047290337.1  nmrA-like family domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9HBL8
    UniProtKB/TrEMBL
    A0A384P622
    Related
    ENSP00000458762.1, ENST00000574733.5

  5. XM_047434385.1 → XP_047290341.1  nmrA-like family domain-containing protein 1 isoform X4

  6. XM_047434384.1 → XP_047290340.1  nmrA-like family domain-containing protein 1 isoform X3

  7. XM_047434383.1 → XP_047290339.1  nmrA-like family domain-containing protein 1 isoform X2

  8. XM_017023488.3 → XP_016878977.1  nmrA-like family domain-containing protein 1 isoform X3

    Conserved Domains (2) summary
    cd08947
    Location:7 → 240
    NmrA_TMR_like_SDR_a; NmrA (a transcriptional regulator), HSCARG (an NADPH sensor), and triphenylmethane reductase (TMR) like proteins, atypical (a) SDRs
    COG0702
    Location:5 → 206
    YbjT; Uncharacterized conserved protein YbjT, contains NAD(P)-binding and DUF2867 domains [General function prediction only]

  9. XM_017023486.3 → XP_016878975.2  nmrA-like family domain-containing protein 1 isoform X2

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187608.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    164017..178660 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329186.1 → XP_054185161.1  nmrA-like family domain-containing protein 1 isoform X5

  2. XM_054329180.1 → XP_054185155.1  nmrA-like family domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9HBL8
    UniProtKB/TrEMBL
    A0A384P622

  3. XM_054329187.1 → XP_054185162.1  nmrA-like family domain-containing protein 1 isoform X5

  4. XM_054329179.1 → XP_054185154.1  nmrA-like family domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9HBL8
    UniProtKB/TrEMBL
    A0A384P622

  5. XM_054329185.1 → XP_054185160.1  nmrA-like family domain-containing protein 1 isoform X4

  6. XM_054329183.1 → XP_054185158.1  nmrA-like family domain-containing protein 1 isoform X3

  7. XM_054329182.1 → XP_054185157.1  nmrA-like family domain-containing protein 1 isoform X2

  8. XM_054329184.1 → XP_054185159.1  nmrA-like family domain-containing protein 1 isoform X3

  9. XM_054329181.1 → XP_054185156.1  nmrA-like family domain-containing protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    4491230..4505858 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313526.1 → XP_054169501.1  nmrA-like family domain-containing protein 1 isoform X5

  2. XM_054313520.1 → XP_054169495.1  nmrA-like family domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9HBL8
    UniProtKB/TrEMBL
    A0A384P622

  3. XM_054313527.1 → XP_054169502.1  nmrA-like family domain-containing protein 1 isoform X5

  4. XM_054313519.1 → XP_054169494.1  nmrA-like family domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9HBL8
    UniProtKB/TrEMBL
    A0A384P622

  5. XM_054313525.1 → XP_054169500.1  nmrA-like family domain-containing protein 1 isoform X4

  6. XM_054313523.1 → XP_054169498.1  nmrA-like family domain-containing protein 1 isoform X3

  7. XM_054313522.1 → XP_054169497.1  nmrA-like family domain-containing protein 1 isoform X2

  8. XM_054313524.1 → XP_054169499.1  nmrA-like family domain-containing protein 1 isoform X3

  9. XM_054313521.1 → XP_054169496.1  nmrA-like family domain-containing protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HBL8.1 GenPept UniProtKB/Swiss-Prot:Q9HBL8

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