Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

NACHT domain- and WD repeat-containing protein 1

Gene

NWD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in the control of androgen receptor (AR) protein steady-state levels.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi341 – 3488ATPSequence analysis

GO - Molecular functioni

Complete GO annotation...

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

SignaLinkiQ149M9.

Names & Taxonomyi

Protein namesi
Recommended name:
NACHT domain- and WD repeat-containing protein 1
Gene namesi
Name:NWD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:27619. NWD1.

Subcellular locationi

  • Cytoplasmcytosol 1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Polymorphism and mutation databases

BioMutaiNWD1.
DMDMi313104204.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 15641564NACHT domain- and WD repeat-containing protein 1PRO_0000308254Add
BLAST

Proteomic databases

EPDiQ149M9.
PaxDbiQ149M9.
PeptideAtlasiQ149M9.
PRIDEiQ149M9.

PTM databases

iPTMnetiQ149M9.
PhosphoSiteiQ149M9.

Expressioni

Tissue specificityi

Expressed at highest levels in prostate, followed by testis, retina, trachea and optic nerve. Also detected in brain, epididymis, lung, vagina and pituitary. In the prostate, tends to be up-regulated during malignant progression compared to normal epithelium (at protein level).1 Publication

Inductioni

May be up-regulated by SOX9 and SRY.1 Publication

Gene expression databases

BgeeiENSG00000188039.
CleanExiHS_NWD1.
ExpressionAtlasiQ149M9. baseline and differential.

Organism-specific databases

HPAiHPA057772.

Interactioni

Subunit structurei

May interact with HSP90AA1, HSP90AB1 and BAG2.1 Publication

Protein-protein interaction databases

IntActiQ149M9. 2 interactions.
STRINGi9606.ENSP00000369136.

Structurei

3D structure databases

ProteinModelPortaliQ149M9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini335 – 661327NACHTAdd
BLAST
Repeati866 – 90540WD 1Add
BLAST
Repeati908 – 94740WD 2Add
BLAST
Repeati956 – 99439WD 3Add
BLAST
Repeati998 – 103740WD 4Add
BLAST
Repeati1044 – 108239WD 5Add
BLAST
Repeati1083 – 112139WD 6Add
BLAST
Repeati1126 – 116540WD 7Add
BLAST
Repeati1167 – 120741WD 8Add
BLAST
Repeati1212 – 125140WD 9Add
BLAST
Repeati1253 – 129038WD 10Add
BLAST
Repeati1291 – 132737WD 11Add
BLAST
Repeati1338 – 137639WD 12Add
BLAST
Repeati1380 – 141839WD 13Add
BLAST
Repeati1425 – 146238WD 14Add
BLAST

Sequence similaritiesi

Contains 1 NACHT domain.Curated
Contains 14 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG3602. Eukaryota.
COG2319. LUCA.
GeneTreeiENSGT00530000063450.
HOGENOMiHOG000168522.
HOVERGENiHBG108205.
InParanoidiQ149M9.
OMAiADGCLDT.
OrthoDBiEOG091G05F0.
PhylomeDBiQ149M9.
TreeFamiTF332647.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
3.40.50.300. 1 hit.
InterProiIPR024977. Apc4_WD40_dom.
IPR027417. P-loop_NTPase.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF12894. ANAPC4_WD40. 1 hit.
PF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 11 hits.
[Graphical view]
SUPFAMiSSF50998. SSF50998. 4 hits.
SSF52540. SSF52540. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 3 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q149M9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQRGKPCRAL PTLKCQTFCQ RHGLMFEVVD LRWGIRNIEA TDHLTTELCL
60 70 80 90 100
EEVDRCWKTS IGPAFVALIG DQYGPCLIPS RIDEKEWEVL RDHLTARPSD
110 120 130 140 150
LELVARYFQR DENAFPPTYV LQAPGTGEAC EPEEATLTSV LRSGAQEARR
160 170 180 190 200
LGLITQEQWQ HYHRSVIEWE IERSLLSSED REQGATVFLR EIQDLHKHIL
210 220 230 240 250
EDCALRMVDR LADGCLDADA QNLLSSLKSH ITDMHPGVLK THRLPWSRDL
260 270 280 290 300
VNPKNKTHAC YLKELGEQFV VRANHQVLTR LRELDTAGQE LAWLYQEIRH
310 320 330 340 350
HLWQSSEVIQ TFCGRQELLA RLGQQLRHDD SKQHTPLVLF GPPGIGKTAL
360 370 380 390 400
MCKLAEQMPR LLGHKTVTVL RLLGTSQMSS DARGLLKSIC FQVCLAYGLP
410 420 430 440 450
LPPAQVLDAH TRVVQFFHTL LHTVSCRNFE SLVLLLDAMD DLDSVRHARR
460 470 480 490 500
VPWLPLNCPP RVHLILSACS GALGVLDTLQ RVLLDPEAYW EVKPLSGNQG
510 520 530 540 550
QQMIQLLLAA ARRTLSPVHT DLLWASLPEC GNPGRLRLAF EEARKWASFT
560 570 580 590 600
VPVPLATTAE EATHQLCTRL EQTHGQLLVA HVLGYIVSSR HGLSEAELKD
610 620 630 640 650
VLSLDDEVLQ DVYRDWTPPS KELLRFPPLL WVRLRRDLGY YLARRPVDGF
660 670 680 690 700
TLLAIAHRQL VEVVRERYLS GSERAKRHGV LADFFSGTWS QGTKKLITLP
710 720 730 740 750
LVGKPLNLDR KVAPQPLWFS HTVANLRKLK ELPYHLLHSG RLEELKQEVL
760 770 780 790 800
GSMSWISCRG ISGGIEDLLD DFDLCAPHLD SPEVGLVREA LQLCRPAVEL
810 820 830 840 850
RGMERSLLYT ELLARLHFFA TSHPALVGQL CQQAQSWFQL CAHPVLVPLG
860 870 880 890 900
GFLQPPGGPL RATLSGCHKG ITAMAWGVEE KLLVIGTQDG IMAVWDMEEQ
910 920 930 940 950
HVIHMLTGHT GEVRCVKIFA KGTLANSASK DYTLHLWNLL SGQEKFTIWD
960 970 980 990 1000
GGSKNPAEPQ IWNLHVDEAH KVVYSASGSK INAWNLETAE PVFHILGDAS
1010 1020 1030 1040 1050
DPWMCMAVLA SQATLLTVSR DGVVSLWSSA TGKLQGKQHM SSIKEETPTC
1060 1070 1080 1090 1100
AVSVQKQGKL VTGFSNGSIS LVSSKGDRLL EKLPDAVRFL VVSEDESLLA
1110 1120 1130 1140 1150
AGFGRSVRIF LADSRGFRRF MAMDLEHEDM VETAVFGTEN NLIITGSLDA
1160 1170 1180 1190 1200
LIQVWSLSEQ GTLLDILEGV GAPVSLLARG GALVASASPQ SSSFKVWDLS
1210 1220 1230 1240 1250
DAHRSRVPAP FLDRTGLTAV SHNGSYVYFP KIGDKNKVTI WDLAEGEEQD
1260 1270 1280 1290 1300
SLDTSSEIRC LEVAEQRKLL FTGLVSGVVL VFPLNSRQDV ICIPPPEARK
1310 1320 1330 1340 1350
AINCMSLSKC EDRLAIAYDN IVLVLDITSG DPCPVIDGPR YTFYTQLPET
1360 1370 1380 1390 1400
LSSVAILTDY RVVYSMTNGD LFLYECATSK AFPLETHRSR VACVEVSHKE
1410 1420 1430 1440 1450
QLVVSGSEDA LLCLWDLQAR KWKFEMSYTS SYCRGVQCAC FSKDDKYVYV
1460 1470 1480 1490 1500
GLKDRSILVW SVLDGTLLTV QFVHAVVNRI IPTTSGFIAP TRHGYLIREN
1510 1520 1530 1540 1550
FQCLSAKASP QDPLKNFKKA MWMVKSRQRE ELVAAAGAPQ DLESESAQGN
1560
ETKSNKCSQV CLIV
Note: No experimental confirmation available.
Length:1,564
Mass (Da):174,552
Last modified:November 30, 2010 - v3
Checksum:iAB77411A1D6FBCFF
GO
Isoform 2 (identifier: Q149M9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-76: ALIGDQYGPC → EKCADPCPGQ
     77-1564: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:76
Mass (Da):8,679
Checksum:i7C5431E4500AFFDD
GO
Isoform 3 (identifier: Q149M9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1430-1432: SSY → APC
     1433-1564: Missing.

Note: No experimental confirmation available.
Show »
Length:1,432
Mass (Da):159,853
Checksum:i067255A974EAC64D
GO

Sequence cautioni

The sequence AAI17699 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti15 – 151C → F in CAH18655 (PubMed:17974005).Curated
Sequence conflicti78 – 781I → V in CAH18655 (PubMed:17974005).Curated
Sequence conflicti994 – 9941H → Y in CAH18655 (PubMed:17974005).Curated
Sequence conflicti1056 – 10561K → R in CAH18655 (PubMed:17974005).Curated
Sequence conflicti1141 – 11411N → S in CAH18655 (PubMed:17974005).Curated
Sequence conflicti1171 – 11711G → R in CAH18655 (PubMed:17974005).Curated
Sequence conflicti1399 – 13991K → R in CAH18655 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741S → G.1 Publication
Corresponds to variant rs3888834 [ dbSNP | Ensembl ].
VAR_036769
Natural varianti211 – 2111L → F.
Corresponds to variant rs11668502 [ dbSNP | Ensembl ].
VAR_036770
Natural varianti218 – 2181A → T.1 Publication
Corresponds to variant rs706764 [ dbSNP | Ensembl ].
VAR_036771
Natural varianti900 – 9001Q → E.
Corresponds to variant rs773930 [ dbSNP | Ensembl ].
VAR_036772
Natural varianti926 – 9261N → I.1 Publication
Corresponds to variant rs2608737 [ dbSNP | Ensembl ].
VAR_036773
Natural varianti935 – 9351H → R.
Corresponds to variant rs2608738 [ dbSNP | Ensembl ].
VAR_036774
Natural varianti1541 – 15411D → V.
Corresponds to variant rs11671361 [ dbSNP | Ensembl ].
VAR_036775

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei67 – 7610ALIGDQYGPC → EKCADPCPGQ in isoform 2. 1 PublicationVSP_040651
Alternative sequencei77 – 15641488Missing in isoform 2. 1 PublicationVSP_040652Add
BLAST
Alternative sequencei1430 – 14323SSY → APC in isoform 3. 1 PublicationVSP_028940
Alternative sequencei1433 – 1564132Missing in isoform 3. 1 PublicationVSP_028941Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR749794 mRNA. Translation: CAH18655.1.
AC008737 Genomic DNA. No translation available.
BC117698 mRNA. Translation: AAI17699.1. Sequence problems.
CCDSiCCDS32945.2. [Q149M9-3]
RefSeqiNP_001007526.3. NM_001007525.3. [Q149M9-3]
XP_011526231.1. XM_011527929.1. [Q149M9-1]
XP_011526232.1. XM_011527930.2. [Q149M9-1]
XP_011526233.1. XM_011527931.2. [Q149M9-1]
UniGeneiHs.406014.

Genome annotation databases

EnsembliENST00000379808; ENSP00000369136; ENSG00000188039. [Q149M9-3]
ENST00000438489; ENSP00000400248; ENSG00000188039. [Q149M9-2]
ENST00000524140; ENSP00000428579; ENSG00000188039. [Q149M9-3]
ENST00000552788; ENSP00000447224; ENSG00000188039. [Q149M9-1]
GeneIDi284434.
KEGGihsa:284434.
UCSCiuc002neu.5. human. [Q149M9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR749794 mRNA. Translation: CAH18655.1.
AC008737 Genomic DNA. No translation available.
BC117698 mRNA. Translation: AAI17699.1. Sequence problems.
CCDSiCCDS32945.2. [Q149M9-3]
RefSeqiNP_001007526.3. NM_001007525.3. [Q149M9-3]
XP_011526231.1. XM_011527929.1. [Q149M9-1]
XP_011526232.1. XM_011527930.2. [Q149M9-1]
XP_011526233.1. XM_011527931.2. [Q149M9-1]
UniGeneiHs.406014.

3D structure databases

ProteinModelPortaliQ149M9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ149M9. 2 interactions.
STRINGi9606.ENSP00000369136.

PTM databases

iPTMnetiQ149M9.
PhosphoSiteiQ149M9.

Polymorphism and mutation databases

BioMutaiNWD1.
DMDMi313104204.

Proteomic databases

EPDiQ149M9.
PaxDbiQ149M9.
PeptideAtlasiQ149M9.
PRIDEiQ149M9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379808; ENSP00000369136; ENSG00000188039. [Q149M9-3]
ENST00000438489; ENSP00000400248; ENSG00000188039. [Q149M9-2]
ENST00000524140; ENSP00000428579; ENSG00000188039. [Q149M9-3]
ENST00000552788; ENSP00000447224; ENSG00000188039. [Q149M9-1]
GeneIDi284434.
KEGGihsa:284434.
UCSCiuc002neu.5. human. [Q149M9-1]

Organism-specific databases

CTDi284434.
GeneCardsiNWD1.
H-InvDBHIX0202736.
HGNCiHGNC:27619. NWD1.
HPAiHPA057772.
MIMi616250. gene.
neXtProtiNX_Q149M9.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3602. Eukaryota.
COG2319. LUCA.
GeneTreeiENSGT00530000063450.
HOGENOMiHOG000168522.
HOVERGENiHBG108205.
InParanoidiQ149M9.
OMAiADGCLDT.
OrthoDBiEOG091G05F0.
PhylomeDBiQ149M9.
TreeFamiTF332647.

Enzyme and pathway databases

SignaLinkiQ149M9.

Miscellaneous databases

GeneWikiiNWD1.
GenomeRNAii284434.
PROiQ149M9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188039.
CleanExiHS_NWD1.
ExpressionAtlasiQ149M9. baseline and differential.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
3.40.50.300. 1 hit.
InterProiIPR024977. Apc4_WD40_dom.
IPR027417. P-loop_NTPase.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF12894. ANAPC4_WD40. 1 hit.
PF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 11 hits.
[Graphical view]
SUPFAMiSSF50998. SSF50998. 4 hits.
SSF52540. SSF52540. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNWD1_HUMAN
AccessioniPrimary (citable) accession number: Q149M9
Secondary accession number(s): C9J021, Q68CT3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: November 30, 2010
Last modified: September 7, 2016
This is version 88 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.