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Protein

NACHT, LRR and PYD domains-containing protein 5

Gene

NLRP5

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

Functioni

As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi286 – 2938ATPPROSITE-ProRule annotation

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
NACHT, LRR and PYD domains-containing protein 5
Alternative name(s):
Mater protein homolog
Gene namesi
Name:NLRP5
Synonyms:MATER, NALP5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:21269. NLRP5.

Subcellular locationi

  • Mitochondrion By similarity
  • Nucleusnucleolus By similarity
  • Cytoplasm By similarity

  • Note: In the subcortical cytoplasm of early embryos from the 1-cell to the blastocyst stages. From the 2-cell stage, still detected in the subcortex, but excluded from cell-cell contact regions (By similarity).By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162397970.

Polymorphism and mutation databases

BioMutaiNLRP5.
DMDMi215274029.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12001200NACHT, LRR and PYD domains-containing protein 5PRO_0000080890Add
BLAST

Proteomic databases

PaxDbiP59047.
PeptideAtlasiP59047.
PRIDEiP59047.

PTM databases

iPTMnetiP59047.
PhosphoSiteiP59047.

Expressioni

Tissue specificityi

Oocyte-specific.

Gene expression databases

BgeeiP59047.
CleanExiHS_NLRP5.
ExpressionAtlasiP59047. baseline and differential.
GenevisibleiP59047. HS.

Organism-specific databases

HPAiHPA056271.

Interactioni

Subunit structurei

Component of the SCMC which also includes at least OOEP and TLE6.By similarity

Protein-protein interaction databases

BioGridi125965. 9 interactions.
IntActiP59047. 8 interactions.
STRINGi9606.ENSP00000375063.

Structurei

3D structure databases

ProteinModelPortaliP59047.
SMRiP59047. Positions 60-141, 752-1173.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini57 – 14892PyrinPROSITE-ProRule annotationAdd
BLAST
Domaini280 – 602323NACHTPROSITE-ProRule annotationAdd
BLAST
Repeati704 – 72724LRR 1Add
BLAST
Repeati730 – 75324LRR 2Add
BLAST
Repeati780 – 80324LRR 3Add
BLAST
Repeati809 – 83224LRR 4Add
BLAST
Repeati836 – 86328LRR 5Add
BLAST
Repeati865 – 89228LRR 6Add
BLAST
Repeati893 – 91624LRR 7Add
BLAST
Repeati950 – 97324LRR 8Add
BLAST
Repeati979 – 100224LRR 9Add
BLAST
Repeati1007 – 103428LRR 10Add
BLAST
Repeati1036 – 105924LRR 11Add
BLAST
Repeati1064 – 109229LRR 12Add
BLAST
Repeati1121 – 114222LRR 13Add
BLAST

Sequence similaritiesi

Belongs to the NLRP family.Curated
Contains 13 LRR (leucine-rich) repeats.Curated
Contains 1 NACHT domain.PROSITE-ProRule annotation
Contains 1 pyrin domain.PROSITE-ProRule annotation

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiENOG410IIY8. Eukaryota.
ENOG4111BJJ. LUCA.
GeneTreeiENSGT00840000129675.
HOGENOMiHOG000294064.
HOVERGENiHBG063656.
InParanoidiP59047.
OMAiSQAMEQE.
OrthoDBiEOG7P5T07.
PhylomeDBiP59047.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
3.80.10.10. 2 hits.
InterProiIPR004020. DAPIN.
IPR011029. DEATH-like_dom.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR007111. NACHT_NTPase.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF13516. LRR_6. 5 hits.
PF02758. PYRIN. 1 hit.
[Graphical view]
SMARTiSM01289. PYRIN. 1 hit.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50824. DAPIN. 1 hit.
PS50837. NACHT. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P59047-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKVAGGLELG AAALLSASPR ALVTLSTGPT CSILPKNPLF PQNLSSQPCI
60 70 80 90 100
KMEGDKSLTF SSYGLQWCLY ELDKEEFQTF KELLKKKSSE STTCSIPQFE
110 120 130 140 150
IENANVECLA LLLHEYYGAS LAWATSISIF ENMNLRTLSE KARDDMKRHS
160 170 180 190 200
PEDPEATMTD QGPSKEKVPG ISQAVQQDSA TAAETKEQEI SQAMEQEGAT
210 220 230 240 250
AAETEEQEIS QAMEQEGATA AETEEQGHGG DTWDYKSHVM TKFAEEEDVR
260 270 280 290 300
RSFENTAADW PEMQTLAGAF DSDRWGFRPR TVVLHGKSGI GKSALARRIV
310 320 330 340 350
LCWAQGGLYQ GMFSYVFFLP VREMQRKKES SVTEFISREW PDSQAPVTEI
360 370 380 390 400
MSRPERLLFI IDGFDDLGSV LNNDTKLCKD WAEKQPPFTL IRSLLRKVLL
410 420 430 440 450
PESFLIVTVR DVGTEKLKSE VVSPRYLLVR GISGEQRIHL LLERGIGEHQ
460 470 480 490 500
KTQGLRAIMN NRELLDQCQV PAVGSLICVA LQLQDVVGES VAPFNQTLTG
510 520 530 540 550
LHAAFVFHQL TPRGVVRRCL NLEERVVLKR FCRMAVEGVW NRKSVFDGDD
560 570 580 590 600
LMVQGLGESE LRALFHMNIL LPDSHCEEYY TFFHLSLQDF CAALYYVLEG
610 620 630 640 650
LEIEPALCPL YVEKTKRSME LKQAGFHIHS LWMKRFLFGL VSEDVRRPLE
660 670 680 690 700
VLLGCPVPLG VKQKLLHWVS LLGQQPNATT PGDTLDAFHC LFETQDKEFV
710 720 730 740 750
RLALNSFQEV WLPINQNLDL IASSFCLQHC PYLRKIRVDV KGIFPRDESA
760 770 780 790 800
EACPVVPLWM RDKTLIEEQW EDFCSMLGTH PHLRQLDLGS SILTERAMKT
810 820 830 840 850
LCAKLRHPTC KIQTLMFRNA QITPGVQHLW RIVMANRNLR SLNLGGTHLK
860 870 880 890 900
EEDVRMACEA LKHPKCLLES LRLDCCGLTH ACYLKISQIL TTSPSLKSLS
910 920 930 940 950
LAGNKVTDQG VMPLSDALRV SQCALQKLIL EDCGITATGC QSLASALVSN
960 970 980 990 1000
RSLTHLCLSN NSLGNEGVNL LCRSMRLPHC SLQRLMLNQC HLDTAGCGFL
1010 1020 1030 1040 1050
ALALMGNSWL THLSLSMNPV EDNGVKLLCE VMREPSCHLQ DLELVKCHLT
1060 1070 1080 1090 1100
AACCESLSCV ISRSRHLKSL DLTDNALGDG GVAALCEGLK QKNSVLARLG
1110 1120 1130 1140 1150
LKACGLTSDC CEALSLALSC NRHLTSLNLV QNNFSPKGMM KLCSAFACPT
1160 1170 1180 1190 1200
SNLQIIGLWK WQYPVQIRKL LEEVQLLKPR VVIDGSWHSF DEDDRYWWKN
Length:1,200
Mass (Da):134,342
Last modified:November 25, 2008 - v2
Checksum:iA1C6DB1003A2A1BC
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti506 – 5061V → A in AAL15549 (PubMed:11925379).Curated
Sequence conflicti999 – 9991F → S in AAL15549 (PubMed:11925379).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti459 – 4591M → I.1 Publication
Corresponds to variant rs471979 [ dbSNP | Ensembl ].
VAR_060095
Natural varianti584 – 5841H → P.
Corresponds to variant rs34395092 [ dbSNP | Ensembl ].
VAR_060096
Natural varianti761 – 7611R → L.
Corresponds to variant rs17713875 [ dbSNP | Ensembl ].
VAR_060097
Natural varianti912 – 9121M → T.1 Publication
Corresponds to variant rs16986899 [ dbSNP | Ensembl ].
VAR_060098
Natural varianti1097 – 10971A → T.2 Publications
Corresponds to variant rs3103057 [ dbSNP | Ensembl ].
VAR_060099
Natural varianti1108 – 11081S → C.
Corresponds to variant rs12462795 [ dbSNP | Ensembl ].
VAR_060100
Natural varianti1181 – 11811V → I.
Corresponds to variant rs10409555 [ dbSNP | Ensembl ].
VAR_060101
Natural varianti1195 – 11951R → Q.
Corresponds to variant rs36118060 [ dbSNP | Ensembl ].
VAR_060102

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY054986 mRNA. Translation: AAL15549.1.
AY154460 mRNA. Translation: AAO18156.1.
AC011470 Genomic DNA. No translation available.
AC024580 Genomic DNA. No translation available.
CCDSiCCDS12938.1.
RefSeqiNP_703148.4. NM_153447.4.
UniGeneiHs.356872.

Genome annotation databases

EnsembliENST00000390649; ENSP00000375063; ENSG00000171487.
GeneIDi126206.
KEGGihsa:126206.
UCSCiuc002qmj.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY054986 mRNA. Translation: AAL15549.1.
AY154460 mRNA. Translation: AAO18156.1.
AC011470 Genomic DNA. No translation available.
AC024580 Genomic DNA. No translation available.
CCDSiCCDS12938.1.
RefSeqiNP_703148.4. NM_153447.4.
UniGeneiHs.356872.

3D structure databases

ProteinModelPortaliP59047.
SMRiP59047. Positions 60-141, 752-1173.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125965. 9 interactions.
IntActiP59047. 8 interactions.
STRINGi9606.ENSP00000375063.

PTM databases

iPTMnetiP59047.
PhosphoSiteiP59047.

Polymorphism and mutation databases

BioMutaiNLRP5.
DMDMi215274029.

Proteomic databases

PaxDbiP59047.
PeptideAtlasiP59047.
PRIDEiP59047.

Protocols and materials databases

DNASUi126206.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000390649; ENSP00000375063; ENSG00000171487.
GeneIDi126206.
KEGGihsa:126206.
UCSCiuc002qmj.4. human.

Organism-specific databases

CTDi126206.
GeneCardsiNLRP5.
H-InvDBHIX0040046.
HGNCiHGNC:21269. NLRP5.
HPAiHPA056271.
MIMi609658. gene.
neXtProtiNX_P59047.
PharmGKBiPA162397970.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIY8. Eukaryota.
ENOG4111BJJ. LUCA.
GeneTreeiENSGT00840000129675.
HOGENOMiHOG000294064.
HOVERGENiHBG063656.
InParanoidiP59047.
OMAiSQAMEQE.
OrthoDBiEOG7P5T07.
PhylomeDBiP59047.

Miscellaneous databases

GeneWikiiNLRP5.
GenomeRNAii126206.
PROiP59047.
SOURCEiSearch...

Gene expression databases

BgeeiP59047.
CleanExiHS_NLRP5.
ExpressionAtlasiP59047. baseline and differential.
GenevisibleiP59047. HS.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
3.80.10.10. 2 hits.
InterProiIPR004020. DAPIN.
IPR011029. DEATH-like_dom.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR007111. NACHT_NTPase.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF13516. LRR_6. 5 hits.
PF02758. PYRIN. 1 hit.
[Graphical view]
SMARTiSM01289. PYRIN. 1 hit.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50824. DAPIN. 1 hit.
PS50837. NACHT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development."
    Tong Z.-B., Bondy C.A., Zhou J., Nelson L.M.
    Hum. Reprod. 17:903-911(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ILE-459; THR-912 AND THR-1097.
    Tissue: Ovary.
  2. "NALPs: a novel protein family involved in inflammation."
    Tschopp J., Martinon F., Burns K.
    Nat. Rev. Mol. Cell Biol. 4:95-104(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-1097.
  3. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiNALP5_HUMAN
AccessioniPrimary (citable) accession number: P59047
Secondary accession number(s): A8MTY4, Q86W29
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: November 25, 2008
Last modified: July 6, 2016
This is version 127 of the entry and version 2 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.