NWD1_HUMAN
ID NWD1_HUMAN Reviewed; 1564 AA.
AC Q149M9; C9J021; Q68CT3;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=NACHT domain- and WD repeat-containing protein 1;
GN Name=NWD1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANTS GLY-174;
RP THR-218 AND ILE-926.
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION, INTERACTION WITH HSP90AA1; HSP90AB1 AND BAG2, SUBCELLULAR
RP LOCATION, TISSUE SPECIFICITY, AND INDUCTION BY SOX9 AND SRY.
RX PubMed=24681825; DOI=10.18632/oncotarget.1850;
RA Correa R.G., Krajewska M., Ware C.F., Gerlic M., Reed J.C.;
RT "The NLR-related protein NWD1 is associated with prostate cancer and
RT modulates androgen receptor signaling.";
RL Oncotarget 5:1666-1682(2014).
CC -!- FUNCTION: May play a role in the control of androgen receptor (AR)
CC protein steady-state levels. {ECO:0000269|PubMed:24681825}.
CC -!- SUBUNIT: May interact with HSP90AA1, HSP90AB1 and BAG2.
CC {ECO:0000269|PubMed:24681825}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:24681825}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q149M9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q149M9-2; Sequence=VSP_040651, VSP_040652;
CC Name=3;
CC IsoId=Q149M9-3; Sequence=VSP_028940, VSP_028941;
CC -!- TISSUE SPECIFICITY: Expressed at highest levels in prostate, followed
CC by testis, retina, trachea and optic nerve. Also detected in brain,
CC epididymis, lung, vagina and pituitary. In the prostate, tends to be
CC up-regulated during malignant progression compared to normal epithelium
CC (at protein level). {ECO:0000269|PubMed:24681825}.
CC -!- INDUCTION: May be up-regulated by SOX9 and SRY.
CC {ECO:0000269|PubMed:24681825}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI17699.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
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DR EMBL; CR749794; CAH18655.1; -; mRNA.
DR EMBL; AC008737; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC117698; AAI17699.1; ALT_SEQ; mRNA.
DR CCDS; CCDS32945.2; -. [Q149M9-3]
DR RefSeq; NP_001007526.3; NM_001007525.4. [Q149M9-3]
DR RefSeq; NP_001277284.1; NM_001290355.2.
DR RefSeq; NP_001334923.1; NM_001347994.1.
DR RefSeq; XP_011526231.1; XM_011527929.1. [Q149M9-1]
DR RefSeq; XP_011526232.1; XM_011527930.2. [Q149M9-1]
DR RefSeq; XP_011526233.1; XM_011527931.2. [Q149M9-1]
DR AlphaFoldDB; Q149M9; -.
DR SMR; Q149M9; -.
DR BioGRID; 129876; 1.
DR IntAct; Q149M9; 3.
DR STRING; 9606.ENSP00000428579; -.
DR iPTMnet; Q149M9; -.
DR PhosphoSitePlus; Q149M9; -.
DR BioMuta; NWD1; -.
DR DMDM; 313104204; -.
DR EPD; Q149M9; -.
DR jPOST; Q149M9; -.
DR MassIVE; Q149M9; -.
DR PaxDb; Q149M9; -.
DR PeptideAtlas; Q149M9; -.
DR PRIDE; Q149M9; -.
DR ProteomicsDB; 60291; -. [Q149M9-1]
DR ProteomicsDB; 60293; -. [Q149M9-3]
DR Antibodypedia; 69163; 8 antibodies from 7 providers.
DR DNASU; 284434; -.
DR Ensembl; ENST00000379808.7; ENSP00000369136.3; ENSG00000188039.16. [Q149M9-3]
DR Ensembl; ENST00000438489.6; ENSP00000400248.2; ENSG00000188039.16. [Q149M9-2]
DR Ensembl; ENST00000524140.7; ENSP00000428579.2; ENSG00000188039.16. [Q149M9-3]
DR Ensembl; ENST00000552788.1; ENSP00000447224.1; ENSG00000188039.16. [Q149M9-1]
DR Ensembl; ENST00000646016.2; ENSP00000496092.2; ENSG00000188039.16. [Q149M9-2]
DR Ensembl; ENST00000673803.1; ENSP00000501265.1; ENSG00000188039.16. [Q149M9-3]
DR GeneID; 284434; -.
DR KEGG; hsa:284434; -.
DR MANE-Select; ENST00000524140.7; ENSP00000428579.2; NM_001007525.5; NP_001007526.3. [Q149M9-3]
DR UCSC; uc002neu.5; human. [Q149M9-1]
DR CTD; 284434; -.
DR DisGeNET; 284434; -.
DR GeneCards; NWD1; -.
DR HGNC; HGNC:27619; NWD1.
DR HPA; ENSG00000188039; Tissue enriched (choroid).
DR MIM; 616250; gene.
DR neXtProt; NX_Q149M9; -.
DR OpenTargets; ENSG00000188039; -.
DR VEuPathDB; HostDB:ENSG00000188039; -.
DR eggNOG; KOG0265; Eukaryota.
DR eggNOG; KOG3602; Eukaryota.
DR GeneTree; ENSGT00940000161635; -.
DR HOGENOM; CLU_2653829_0_0_1; -.
DR InParanoid; Q149M9; -.
DR OMA; LKELPHH; -.
DR OrthoDB; 20367at2759; -.
DR PhylomeDB; Q149M9; -.
DR TreeFam; TF332647; -.
DR PathwayCommons; Q149M9; -.
DR SignaLink; Q149M9; -.
DR BioGRID-ORCS; 284434; 12 hits in 1062 CRISPR screens.
DR ChiTaRS; NWD1; human.
DR GeneWiki; NWD1; -.
DR GenomeRNAi; 284434; -.
DR Pharos; Q149M9; Tdark.
DR PRO; PR:Q149M9; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q149M9; protein.
DR Bgee; ENSG00000188039; Expressed in olfactory segment of nasal mucosa and 79 other tissues.
DR ExpressionAtlas; Q149M9; baseline and differential.
DR GO; GO:0005829; C:cytosol; IDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0032088; P:negative regulation of NF-kappaB transcription factor activity; IMP:UniProtKB.
DR GO; GO:0010628; P:positive regulation of gene expression; IMP:UniProtKB.
DR Gene3D; 2.130.10.10; -; 4.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR007111; NACHT_NTPase.
DR InterPro; IPR043365; NWD1.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR011047; Quinoprotein_ADH-like_supfam.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR PANTHER; PTHR45013; PTHR45013; 1.
DR Pfam; PF05729; NACHT; 1.
DR Pfam; PF00400; WD40; 3.
DR SMART; SM00320; WD40; 11.
DR SUPFAM; SSF50998; SSF50998; 2.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 2.
DR PROSITE; PS50082; WD_REPEATS_2; 4.
DR PROSITE; PS50294; WD_REPEATS_REGION; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Cytoplasm; Nucleotide-binding;
KW Reference proteome; Repeat; WD repeat.
FT CHAIN 1..1564
FT /note="NACHT domain- and WD repeat-containing protein 1"
FT /id="PRO_0000308254"
FT DOMAIN 335..661
FT /note="NACHT"
FT REPEAT 866..905
FT /note="WD 1"
FT REPEAT 908..947
FT /note="WD 2"
FT REPEAT 956..994
FT /note="WD 3"
FT REPEAT 998..1037
FT /note="WD 4"
FT REPEAT 1044..1082
FT /note="WD 5"
FT REPEAT 1083..1121
FT /note="WD 6"
FT REPEAT 1126..1165
FT /note="WD 7"
FT REPEAT 1167..1207
FT /note="WD 8"
FT REPEAT 1212..1251
FT /note="WD 9"
FT REPEAT 1253..1290
FT /note="WD 10"
FT REPEAT 1291..1327
FT /note="WD 11"
FT REPEAT 1338..1376
FT /note="WD 12"
FT REPEAT 1380..1418
FT /note="WD 13"
FT REPEAT 1425..1462
FT /note="WD 14"
FT BINDING 341..348
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VAR_SEQ 67..76
FT /note="ALIGDQYGPC -> EKCADPCPGQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040651"
FT VAR_SEQ 77..1564
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040652"
FT VAR_SEQ 1430..1432
FT /note="SSY -> APC (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_028940"
FT VAR_SEQ 1433..1564
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_028941"
FT VARIANT 174
FT /note="S -> G (in dbSNP:rs3888834)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_036769"
FT VARIANT 211
FT /note="L -> F (in dbSNP:rs11668502)"
FT /id="VAR_036770"
FT VARIANT 218
FT /note="A -> T (in dbSNP:rs706764)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_036771"
FT VARIANT 900
FT /note="Q -> E (in dbSNP:rs773930)"
FT /id="VAR_036772"
FT VARIANT 926
FT /note="N -> I (in dbSNP:rs2608737)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_036773"
FT VARIANT 935
FT /note="H -> R (in dbSNP:rs2608738)"
FT /id="VAR_036774"
FT VARIANT 1541
FT /note="D -> V (in dbSNP:rs11671361)"
FT /id="VAR_036775"
FT CONFLICT 15
FT /note="C -> F (in Ref. 1; CAH18655)"
FT /evidence="ECO:0000305"
FT CONFLICT 78
FT /note="I -> V (in Ref. 1; CAH18655)"
FT /evidence="ECO:0000305"
FT CONFLICT 994
FT /note="H -> Y (in Ref. 1; CAH18655)"
FT /evidence="ECO:0000305"
FT CONFLICT 1056
FT /note="K -> R (in Ref. 1; CAH18655)"
FT /evidence="ECO:0000305"
FT CONFLICT 1141
FT /note="N -> S (in Ref. 1; CAH18655)"
FT /evidence="ECO:0000305"
FT CONFLICT 1171
FT /note="G -> R (in Ref. 1; CAH18655)"
FT /evidence="ECO:0000305"
FT CONFLICT 1399
FT /note="K -> R (in Ref. 1; CAH18655)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1564 AA; 174552 MW; AB77411A1D6FBCFF CRC64;
MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL EEVDRCWKTS
IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD LELVARYFQR DENAFPPTYV
LQAPGTGEAC EPEEATLTSV LRSGAQEARR LGLITQEQWQ HYHRSVIEWE IERSLLSSED
REQGATVFLR EIQDLHKHIL EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK
THRLPWSRDL VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL MCKLAEQMPR
LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP LPPAQVLDAH TRVVQFFHTL
LHTVSCRNFE SLVLLLDAMD DLDSVRHARR VPWLPLNCPP RVHLILSACS GALGVLDTLQ
RVLLDPEAYW EVKPLSGNQG QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF
EEARKWASFT VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF TLLAIAHRQL
VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP LVGKPLNLDR KVAPQPLWFS
HTVANLRKLK ELPYHLLHSG RLEELKQEVL GSMSWISCRG ISGGIEDLLD DFDLCAPHLD
SPEVGLVREA LQLCRPAVEL RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL
CAHPVLVPLG GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLHLWNLL SGQEKFTIWD GGSKNPAEPQ
IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS DPWMCMAVLA SQATLLTVSR
DGVVSLWSSA TGKLQGKQHM SSIKEETPTC AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL
EKLPDAVRFL VVSEDESLLA AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN
NLIITGSLDA LIQVWSLSEQ GTLLDILEGV GAPVSLLARG GALVASASPQ SSSFKVWDLS
DAHRSRVPAP FLDRTGLTAV SHNGSYVYFP KIGDKNKVTI WDLAEGEEQD SLDTSSEIRC
LEVAEQRKLL FTGLVSGVVL VFPLNSRQDV ICIPPPEARK AINCMSLSKC EDRLAIAYDN
IVLVLDITSG DPCPVIDGPR YTFYTQLPET LSSVAILTDY RVVYSMTNGD LFLYECATSK
AFPLETHRSR VACVEVSHKE QLVVSGSEDA LLCLWDLQAR KWKFEMSYTS SYCRGVQCAC
FSKDDKYVYV GLKDRSILVW SVLDGTLLTV QFVHAVVNRI IPTTSGFIAP TRHGYLIREN
FQCLSAKASP QDPLKNFKKA MWMVKSRQRE ELVAAAGAPQ DLESESAQGN ETKSNKCSQV
CLIV
