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

    Gene ID: 284434, updated on 3-Dec-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See NWD1 in Genome Data Viewer
    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_000019.10Genomic 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

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC134940

    Gene Ontology Provided by GOA

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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001007525.5NP_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: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_001290355.3NP_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: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/TrEMBL
      F8W0U9
      Related
      ENST00000673671.1
      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: 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_000019.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011527929.2XP_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:10651488
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:12591297
      7WD40; WD40 repeat [structural motif]
      cl29593
      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 ...
      cl38936
      Location:314399
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl40481
      Location:336502
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    2. XM_024451466.2XP_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: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 ...
    3. XM_011527930.3XP_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:10651488
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:12591297
      7WD40; WD40 repeat [structural motif]
      cl29593
      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 ...
      cl38936
      Location:314399
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl40481
      Location:336502
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    4. XM_011527931.3XP_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:10651488
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:12591297
      7WD40; WD40 repeat [structural motif]
      cl29593
      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 ...
      cl38936
      Location:314399
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
      cl40481
      Location:336502
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases
    5. XM_024451467.2XP_024307235.1  NACHT domain- and WD repeat-containing protein 1 isoform X3

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

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

      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 ...

    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_054320694.1XP_054176669.1  NACHT domain- and WD repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      F8W0U9
    2. XM_054320697.1XP_054176672.1  NACHT domain- and WD repeat-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      F8W0U9
    3. XM_054320695.1XP_054176670.1  NACHT domain- and WD repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      F8W0U9
    4. XM_054320696.1XP_054176671.1  NACHT domain- and WD repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      F8W0U9
    5. XM_054320698.1XP_054176673.1  NACHT domain- and WD repeat-containing protein 1 isoform X3

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

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