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

Gene ID: 284434, updated on 3-Jun-2018

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; Vega:OTTHUMG00000164507
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

Genomic context

See NWD1 in Genome Data Viewer
Location:
19p13.11
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (16719526..16817963)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16830787..16928774)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 7 Neighboring gene transmembrane protein 38A Neighboring gene SIN3 transcription regulator family member B Neighboring gene F2R like thrombin or trypsin receptor 3

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

General gene information

Markers

Homology

Clone Names

  • MGC134940

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5451..103438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007525.4NP_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/Swiss-Prot
    Q149M9
    Related
    ENSP00000428579.2, OTTHUMP00000226863, ENST00000524140.6, OTTHUMT00000379040
    Conserved Domains (4) summary
    cd00009
    Location:314399
    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:10651427
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:871908
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:8601156
    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_001290355.2NP_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/Swiss-Prot
    Q149M9
    Conserved Domains (4) summary
    COG2319
    Location:7711151
    WD40; WD40 repeat [General function prediction only]
    pfam13191
    Location:177225
    AAA_16; AAA ATPase domain
    sd00039
    Location:11241162
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:7251021
    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_001347994.1NP_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/Swiss-Prot
    Q149M9
    Conserved Domains (4) summary
    cd00009
    Location:108193
    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:8591282
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:10531091
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:654950
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    16719526..16817963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026669.1XP_016882158.1  NACHT domain- and WD repeat-containing protein 1 isoform X3

    Conserved Domains (4) summary
    cd00009
    Location:108193
    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:8591282
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:10531091
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:654950
    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. XM_011527930.2XP_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
    Q149M9
    Conserved Domains (4) summary
    cd00009
    Location:314399
    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:9061286
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:12591297
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:8601156
    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_011527931.2XP_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
    Q149M9
    Related
    ENSP00000447224.1, OTTHUMP00000240838, ENST00000552788.1, OTTHUMT00000403569
    Conserved Domains (4) summary
    cd00009
    Location:314399
    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:9061286
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:12591297
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:8601156
    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 ...
  4. XM_011527929.1XP_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
    Q149M9
    Conserved Domains (4) summary
    cd00009
    Location:314399
    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:9061286
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:12591297
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:8601156
    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 ...
  5. XM_024451466.1XP_024307234.1  NACHT domain- and WD repeat-containing protein 1 isoform X2

    Conserved Domains (4) summary
    cd00009
    Location:314399
    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:10651427
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:871908
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:8601156
    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_024451467.1XP_024307235.1  NACHT domain- and WD repeat-containing protein 1 isoform X4

    Conserved Domains (3) summary
    cd00009
    Location:314399
    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:871908
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:8601156
    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 ...
  7. XM_011527935.1XP_011526237.1  NACHT domain- and WD repeat-containing protein 1 isoform X6

    Conserved Domains (4) summary
    cd00009
    Location:314399
    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:8581100
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:871907
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:8601071
    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 ...
  8. XM_011527934.1XP_011526236.1  NACHT domain- and WD repeat-containing protein 1 isoform X5

    Conserved Domains (3) summary
    COG2319
    Location:468848
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:821859
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:422718
    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 ...
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