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NWD1 NACHT and WD repeat domain containing 1 [ Homo sapiens (human) ]

Gene ID: 284434, updated on 7-Apr-2024

Summary

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Official Symbol
NWD1provided by HGNC
Official Full Name
NACHT and WD repeat domain containing 1provided by HGNC
Primary source
HGNC:HGNC:27619
See related
Ensembl:ENSG00000188039 MIM:616250; AllianceGenome:HGNC:27619
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
Summary
The protein encoded by this gene is thought to be a cytosolic protein and predicted to contain a NACHT domain and multiple WD40 repeats. Increased expression of this gene was observed in some prostate cancer cell lines. Knocking down expression of this gene results in decreased androgen receptor protein levels, indicating that this gene may be important in modulating androgen receptor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Expression
Biased expression in prostate (RPKM 3.7), brain (RPKM 1.6) and 6 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.11
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16719847..16817963)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (16854654..16952783)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16830658..16928774)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904647 Neighboring gene small integral membrane protein 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16772303-16773111 Neighboring gene transmembrane protein 38A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16790368-16790868 Neighboring gene uncharacterized LOC124904648 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:16928291-16928487 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:16936141-16936818 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16939935-16940436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14248 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16947461-16947962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16957115-16957616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16957617-16958116 Neighboring gene SIN3 transcription regulator family member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16996894-16997394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17000485-17001084 Neighboring gene F2R like thrombin or trypsin receptor 3

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. Inhibition of Nwd1 activity attenuates neuronal hyperexcitability and GluN2B phosphorylation in the hippocampus. Yang Q, et al. EBioMedicine, 2019 Sep. PMID 31474551, Free PMC Article
  2. Rare truncating variations and risk of schizophrenia: Whole-exome sequencing in three families with affected siblings and a three-stage follow-up study in a Japanese population. Watanabe Y, et al. Psychiatry Res, 2016 Jan 30. PMID 26706132
  3. The NLR-related protein NWD1 is associated with prostate cancer and modulates androgen receptor signaling. Correa RG, et al. Oncotarget, 2014 Mar 30. PMID 24681825, Free PMC Article
  4. TMEM79/MATTRIN defines a pathway for Frizzled regulation and is required for Xenopus embryogenesis. Chen M, et al. Elife, 2020 Sep 14. PMID 32924931, Free PMC Article
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. our study contributes to the understanding of the biological role of Nwd1 at the synapse and the characterization of the beneficial effects of Nwd1 in the treatment of seizures.
    Title: Inhibition of Nwd1 activity attenuates neuronal hyperexcitability and GluN2B phosphorylation in the hippocampus.
  2. Overexpression of NWD1 is associated with prostate cancer.
    Title: The NLR-related protein NWD1 is associated with prostate cancer and modulates androgen receptor signaling.
  3. 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.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC134940

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in negative regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
NACHT domain- and WD repeat-containing protein 1
Names
NACHT and WD repeat domain-containing protein 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.

Genomic

  1. NG_052795.1 RefSeqGene

    Range
    5322..103428
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007525.5 → NP_001007526.3  NACHT domain- and WD repeat-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001007526.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC008737, AK090685, BC117698, BX489211, CB242932, CR749794
    Consensus CDS
    CCDS32945.2
    UniProtKB/TrEMBL
    F8W0U9
    Related
    ENSP00000428579.2, ENST00000524140.7
    Conserved Domains (4) summary
    cd00009
    Location:314 → 399
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    COG2319
    Location:1065 → 1427
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:871 → 908
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:860 → 1156
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. NM_001290355.3 → NP_001277284.1  NACHT domain- and WD repeat-containing protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, initiates translation at an alternate start codon and contains an alternate exon in the 3' coding region, resulting in a translational frameshift, compared to variant 1. It encodes isoform 2, which is shorter and has distinct N- and C-termini, compared to isoform 1.
    Source sequence(s)
    AC008737, AK090685, BC117698, BX648940, CB242932
    UniProtKB/TrEMBL
    F8W0U9
    Conserved Domains (4) summary
    COG2319
    Location:771 → 1151
    WD40; WD40 repeat [General function prediction only]
    pfam13191
    Location:177 → 225
    AAA_16; AAA ATPase domain
    sd00039
    Location:1124 → 1162
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:725 → 1021
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  3. NM_001347994.1 → NP_001334923.1  NACHT domain- and WD repeat-containing protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, uses a downstream start codon, and contains an alternate exon in its 3' coding region, resulting in a translational frameshift, compared to variant 1. It encodes isoform 3, which has a shorter N-terminus and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC008737, AK090685, BC117698, CB242932, CR749794
    UniProtKB/TrEMBL
    F8W0U9
    Related
    ENST00000673671.1
    Conserved Domains (4) summary
    cd00009
    Location:108 → 193
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    COG2319
    Location:859 → 1282
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1053 → 1091
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:654 → 950
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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
    16719847..16817963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527929.2 → XP_011526231.1  NACHT domain- and WD repeat-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011526231.1

    UniProtKB/Swiss-Prot
    C9J021, Q149M9, Q68CT3
    UniProtKB/TrEMBL
    F8W0U9
    Conserved Domains (5) summary
    COG2319
    Location:1065 → 1488
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1259 → 1297
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:860 → 1156
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl38936
    Location:314 → 399
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl40481
    Location:336 → 502
    YlqF_related_GTPase; Circularly permuted YlqF-related GTPases

  2. XM_024451466.2 → XP_024307234.1  NACHT domain- and WD repeat-containing protein 1 isoform X2

    UniProtKB/TrEMBL
    F8W0U9
    Related
    ENSP00000501265.1, ENST00000673803.1
    Conserved Domains (4) summary
    cd00009
    Location:314 → 399
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    COG2319
    Location:1065 → 1427
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:871 → 908
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:860 → 1156
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  3. XM_011527930.3 → XP_011526232.1  NACHT domain- and WD repeat-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011526232.1

    UniProtKB/Swiss-Prot
    C9J021, Q149M9, Q68CT3
    UniProtKB/TrEMBL
    F8W0U9
    Conserved Domains (5) summary
    COG2319
    Location:1065 → 1488
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1259 → 1297
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:860 → 1156
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl38936
    Location:314 → 399
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl40481
    Location:336 → 502
    YlqF_related_GTPase; Circularly permuted YlqF-related GTPases

  4. XM_011527931.3 → XP_011526233.1  NACHT domain- and WD repeat-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011526233.1

    UniProtKB/Swiss-Prot
    C9J021, Q149M9, Q68CT3
    UniProtKB/TrEMBL
    F8W0U9
    Related
    ENSP00000447224.1, ENST00000552788.1
    Conserved Domains (5) summary
    COG2319
    Location:1065 → 1488
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:1259 → 1297
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:860 → 1156
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl38936
    Location:314 → 399
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl40481
    Location:336 → 502
    YlqF_related_GTPase; Circularly permuted YlqF-related GTPases

  5. XM_024451467.2 → XP_024307235.1  NACHT domain- and WD repeat-containing protein 1 isoform X3

    Conserved Domains (3) summary
    cd00009
    Location:314 → 399
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    sd00039
    Location:871 → 908
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:860 → 1156
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  6. XM_047438676.1 → XP_047294632.1  NACHT domain- and WD repeat-containing protein 1 isoform X5

  7. XM_011527934.1 → XP_011526236.1  NACHT domain- and WD repeat-containing protein 1 isoform X4

    Conserved Domains (3) summary
    COG2319
    Location:468 → 848
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:821 → 859
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:422 → 718
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    16854654..16952783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320694.1 → XP_054176669.1  NACHT domain- and WD repeat-containing protein 1 isoform X1

  2. XM_054320697.1 → XP_054176672.1  NACHT domain- and WD repeat-containing protein 1 isoform X2

  3. XM_054320695.1 → XP_054176670.1  NACHT domain- and WD repeat-containing protein 1 isoform X1

  4. XM_054320696.1 → XP_054176671.1  NACHT domain- and WD repeat-containing protein 1 isoform X1

  5. XM_054320698.1 → XP_054176673.1  NACHT domain- and WD repeat-containing protein 1 isoform X3

  6. XM_054320700.1 → XP_054176675.1  NACHT domain- and WD repeat-containing protein 1 isoform X5

  7. XM_054320699.1 → XP_054176674.1  NACHT domain- and WD repeat-containing protein 1 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q149M9.3 GenPept UniProtKB/Swiss-Prot:Q149M9

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