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

Summary

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: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (16719847..16817963)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (16854654..16952783)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (16830658..16928774)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Overexpression of NWD1 is associated with prostate cancer.
Title: The NLR-related protein NWD1 is associated with prostate cancer and modulates androgen receptor signaling.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

L17877 (e-PCR)
- UniSTS:61334

D19S1171 (e-PCR)
- UniSTS:53660

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

NG_052795.1 RefSeqGene

Range

5322..103428

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

16719847..16817963

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060943.1 Alternate T2T-CHM13v2.0

Range

16854654..16952783

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320694.1 → XP_054176669.1 NACHT domain- and WD repeat-containing protein 1 isoform X1
XM_054320697.1 → XP_054176672.1 NACHT domain- and WD repeat-containing protein 1 isoform X2
XM_054320695.1 → XP_054176670.1 NACHT domain- and WD repeat-containing protein 1 isoform X1
XM_054320696.1 → XP_054176671.1 NACHT domain- and WD repeat-containing protein 1 isoform X1
XM_054320698.1 → XP_054176673.1 NACHT domain- and WD repeat-containing protein 1 isoform X3
XM_054320700.1 → XP_054176675.1 NACHT domain- and WD repeat-containing protein 1 isoform X5
XM_054320699.1 → XP_054176674.1 NACHT domain- and WD repeat-containing protein 1 isoform X4