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Q8WX94

- NALP7_HUMAN

UniProt

Q8WX94 - NALP7_HUMAN

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Protein
NACHT, LRR and PYD domains-containing protein 7
Gene
NLRP7, NALP7, NOD12, PYPAF3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Inhibits CASP1/caspase-1-dependent IL1B secretion.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi178 – 1858ATP Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
Complete GO annotation...

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
NACHT, LRR and PYD domains-containing protein 7
Alternative name(s):
Nucleotide-binding oligomerization domain protein 12
PYRIN-containing APAF1-like protein 3
Gene namesi
Name:NLRP7
Synonyms:NALP7, NOD12, PYPAF3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:22947. NLRP7.

Pathology & Biotechi

Involvement in diseasei

Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti398 – 3981L → R in HYDM1. 1 Publication
VAR_059035
Natural varianti651 – 6511P → S in HYDM1. 1 Publication
VAR_059036
Natural varianti693 – 6931R → P in HYDM1. 2 Publications
VAR_026711
Natural varianti693 – 6931R → Q in HYDM1. 1 Publication
VAR_059037
Natural varianti693 – 6931R → W in HYDM1. 2 Publications
VAR_026712
Natural varianti716 – 7161P → A in HYDM1. 1 Publication
VAR_059038
Natural varianti721 – 7211R → W in HYDM1. 1 Publication
VAR_059039
Natural varianti761 – 7611C → Y in HYDM1. 1 Publication
VAR_059040
Natural varianti913 – 9131N → S in HYDM1. 2 Publications
Corresponds to variant rs104895503 [ dbSNP | Ensembl ].
VAR_026713

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi231090. phenotype.
Orphaneti254688. Complete hydatidiform mole.
254693. Partial hydatidiform mole.
PharmGKBiPA162398003.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 980980NACHT, LRR and PYD domains-containing protein 7
PRO_0000080895Add
BLAST

Proteomic databases

MaxQBiQ8WX94.
PaxDbiQ8WX94.
PRIDEiQ8WX94.

PTM databases

PhosphoSiteiQ8WX94.

Expressioni

Tissue specificityi

Expressed in numerous tissues including uterus and ovary, with low levels in heart and brain. Not detected in skeletal muscle.2 Publications

Inductioni

By bacterial lipopolysaccharides (LPS) and IL1B/interleukin-1 beta in peripheral blood mononuclear cells.

Gene expression databases

ArrayExpressiQ8WX94.
BgeeiQ8WX94.
CleanExiHS_NLRP7.
GenevestigatoriQ8WX94.

Organism-specific databases

HPAiHPA051382.

Interactioni

Subunit structurei

Directly interacts with CASP1 and IL1B.1 Publication

Protein-protein interaction databases

BioGridi128265. 2 interactions.
STRINGi9606.ENSP00000329568.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi4 – 1613
Helixi21 – 299
Helixi38 – 403
Helixi43 – 486
Helixi52 – 6110
Helixi64 – 7714
Helixi84 – 874
Turni88 – 914

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2KM6NMR-A1-96[»]
ProteinModelPortaliQ8WX94.
SMRiQ8WX94. Positions 1-96, 603-968.

Miscellaneous databases

EvolutionaryTraceiQ8WX94.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 9393DAPIN
Add
BLAST
Domaini172 – 491320NACHT
Add
BLAST
Repeati614 – 63825LRR 1
Add
BLAST
Repeati674 – 69724LRR 2
Add
BLAST
Repeati760 – 78425LRR 3
Add
BLAST
Repeati788 – 81023LRR 4
Add
BLAST
Repeati817 – 84024LRR 5
Add
BLAST
Repeati845 – 86824LRR 6
Add
BLAST
Repeati874 – 89724LRR 7
Add
BLAST
Repeati902 – 92827LRR 8
Add
BLAST
Repeati933 – 95725LRR 9
Add
BLAST

Sequence similaritiesi

Belongs to the NLRP family.
Contains 1 DAPIN domain.
Contains 1 NACHT domain.

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiNOG146691.
HOGENOMiHOG000294064.
HOVERGENiHBG103856.
PhylomeDBiQ8WX94.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR004020. DAPIN.
IPR011029. DEATH-like_dom.
IPR007111. NACHT_NTPase.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF02758. PYRIN. 1 hit.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEiPS50824. DAPIN. 1 hit.
PS50837. NACHT. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8WX94-1) [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

MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD    50
GKKLAEILVN TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI 100
DNPELGDAEE DSELAKPGEK EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV 150
TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA GVGKTTLAKK CMLDWTDCNL 200
SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS ILAQAQRILF 250
VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT 300
TRPRALRDLQ LLAQQPIYVR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM 350
RSNAALFQLG SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS 400
RFPQGAQLRG ALRTLSLLAA QGLWAQMSVF HREDLERLGV QESDLRLFLD 450
GDILRQDRVS KGCYSFIHLS FQQFLTALFY ALEKEEGEDR DGHAWDIGDV 500
QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC RMSPDIKQEL 550
LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN 600
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI 650
PNWARQDLRS LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT 700
RSTCHLQKVE IKNVTPDTAY RDFCLAFIGK KTLTHLTLAG HIEWERTMML 750
MLCDLLRNHK CNLQYLRLGG HCATPEQWAE FFYVLKANQS LKHLRLSANV 800
LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA VLVVSKKLTH 850
LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ 900
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLKT YETNLEIKKL 950
LEEVKEKNPK LTIDCNASGA TAPPCCDFFC 980
Length:980
Mass (Da):111,807
Last modified:March 1, 2002 - v1
Checksum:i822AF2FD4338003D
GO
Isoform 2 (identifier: Q8WX94-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     644-671: Missing.
     938-938: L → LWSCSLMPFYCQHLGSALLSNQKLETLDLGQNHLWKSGIIKLFGVLRQRTGSLKILRL

Note: No experimental confirmation available.

Show »
Length:1,009
Mass (Da):114,845
Checksum:iEB76450B0C05AE24
GO
Isoform 3 (identifier: Q8WX94-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     938-938: L → LWSCSLMPFYCQHLGSALLSNQKLETLDLGQNHLWKSGIIKLFGVLRQRTGSLKILRL

Note: No experimental confirmation available.

Show »
Length:1,037
Mass (Da):118,303
Checksum:iBB5642CADF5DA666
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti319 – 3191V → I.
Corresponds to variant rs775882 [ dbSNP | Ensembl ].
VAR_026710
Natural varianti398 – 3981L → R in HYDM1. 1 Publication
VAR_059035
Natural varianti487 – 4871G → E.
Corresponds to variant rs775881 [ dbSNP | Ensembl ].
VAR_060103
Natural varianti651 – 6511P → S in HYDM1. 1 Publication
VAR_059036
Natural varianti693 – 6931R → P in HYDM1. 2 Publications
VAR_026711
Natural varianti693 – 6931R → Q in HYDM1. 1 Publication
VAR_059037
Natural varianti693 – 6931R → W in HYDM1. 2 Publications
VAR_026712
Natural varianti716 – 7161P → A in HYDM1. 1 Publication
VAR_059038
Natural varianti721 – 7211R → W in HYDM1. 1 Publication
VAR_059039
Natural varianti761 – 7611C → Y in HYDM1. 1 Publication
VAR_059040
Natural varianti913 – 9131N → S in HYDM1. 2 Publications
Corresponds to variant rs104895503 [ dbSNP | Ensembl ].
VAR_026713
Natural varianti971 – 9711T → A.
Corresponds to variant rs7256020 [ dbSNP | Ensembl ].
VAR_026714

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei644 – 67128Missing in isoform 2.
VSP_016906Add
BLAST
Alternative sequencei938 – 9381L → LWSCSLMPFYCQHLGSALLS NQKLETLDLGQNHLWKSGII KLFGVLRQRTGSLKILRL in isoform 2 and isoform 3.
VSP_016907

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti310 – 3112QL → RI in AAI09126. 1 Publication
Sequence conflicti481 – 4811A → T in AAI09126. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF464765 mRNA. Translation: AAL69963.1.
AY154462 mRNA. Translation: AAO18158.1.
AC011476 Genomic DNA. No translation available.
BC109125 mRNA. Translation: AAI09126.1.
BK001113 mRNA. Translation: DAA01246.1.
CCDSiCCDS12912.1. [Q8WX94-2]
CCDS33109.1. [Q8WX94-1]
CCDS46183.1. [Q8WX94-3]
RefSeqiNP_001120727.1. NM_001127255.1. [Q8WX94-3]
NP_631915.2. NM_139176.3. [Q8WX94-2]
NP_996611.2. NM_206828.3. [Q8WX94-1]
XP_006723138.1. XM_006723075.1. [Q8WX94-3]
XP_006723139.1. XM_006723076.1. [Q8WX94-3]
XP_006725700.1. XM_006725637.1. [Q8WX94-3]
XP_006725701.1. XM_006725638.1. [Q8WX94-3]
XP_006725703.1. XM_006725640.1. [Q8WX94-1]
XP_006725827.1. XM_006725764.1. [Q8WX94-3]
XP_006725828.1. XM_006725765.1. [Q8WX94-3]
XP_006725928.1. XM_006725865.1. [Q8WX94-3]
XP_006725929.1. XM_006725866.1. [Q8WX94-3]
XP_006726016.1. XM_006725953.1. [Q8WX94-3]
XP_006726017.1. XM_006725954.1. [Q8WX94-3]
XP_006726115.1. XM_006726052.1. [Q8WX94-3]
XP_006726116.1. XM_006726053.1. [Q8WX94-3]
XP_006726213.1. XM_006726150.1. [Q8WX94-3]
XP_006726214.1. XM_006726151.1. [Q8WX94-3]
XP_006726253.1. XM_006726190.1. [Q8WX94-3]
XP_006726254.1. XM_006726191.1. [Q8WX94-3]
XP_006726333.1. XM_006726270.1. [Q8WX94-3]
XP_006726334.1. XM_006726271.1. [Q8WX94-3]
UniGeneiHs.351118.

Genome annotation databases

EnsembliENST00000328092; ENSP00000329568; ENSG00000167634. [Q8WX94-2]
ENST00000340844; ENSP00000339491; ENSG00000167634. [Q8WX94-1]
ENST00000448121; ENSP00000409137; ENSG00000167634. [Q8WX94-2]
ENST00000570326; ENSP00000461614; ENSG00000262736. [Q8WX94-2]
ENST00000570389; ENSP00000461532; ENSG00000263168. [Q8WX94-1]
ENST00000571114; ENSP00000461064; ENSG00000263168. [Q8WX94-2]
ENST00000571118; ENSP00000459241; ENSG00000263026. [Q8WX94-2]
ENST00000571397; ENSP00000461321; ENSG00000262690. [Q8WX94-2]
ENST00000571769; ENSP00000458231; ENSG00000263026. [Q8WX94-2]
ENST00000572166; ENSP00000459861; ENSG00000262457. [Q8WX94-2]
ENST00000572307; ENSP00000458674; ENSG00000262457. [Q8WX94-2]
ENST00000573987; ENSP00000459596; ENSG00000263068. [Q8WX94-1]
ENST00000575015; ENSP00000461257; ENSG00000262736. [Q8WX94-2]
ENST00000575084; ENSP00000458215; ENSG00000262009. [Q8WX94-1]
ENST00000575121; ENSP00000459698; ENSG00000263168. [Q8WX94-2]
ENST00000575386; ENSP00000460076; ENSG00000262690. [Q8WX94-1]
ENST00000575631; ENSP00000459086; ENSG00000262009. [Q8WX94-2]
ENST00000576007; ENSP00000459959; ENSG00000262736. [Q8WX94-1]
ENST00000576081; ENSP00000458962; ENSG00000262690. [Q8WX94-2]
ENST00000576102; ENSP00000458454; ENSG00000263026. [Q8WX94-1]
ENST00000576609; ENSP00000459548; ENSG00000262457. [Q8WX94-1]
ENST00000576715; ENSP00000458887; ENSG00000262009. [Q8WX94-2]
ENST00000576774; ENSP00000460017; ENSG00000263068. [Q8WX94-2]
ENST00000576855; ENSP00000459718; ENSG00000263068. [Q8WX94-2]
ENST00000585738; ENSP00000468742; ENSG00000263068. [Q8WX94-3]
ENST00000585875; ENSP00000467002; ENSG00000262009. [Q8WX94-1]
ENST00000586225; ENSP00000465333; ENSG00000262690. [Q8WX94-1]
ENST00000586640; ENSP00000465583; ENSG00000263026. [Q8WX94-1]
ENST00000586736; ENSP00000464771; ENSG00000262457. [Q8WX94-3]
ENST00000586781; ENSP00000468204; ENSG00000263168. [Q8WX94-1]
ENST00000587685; ENSP00000466268; ENSG00000263168. [Q8WX94-3]
ENST00000588487; ENSP00000467374; ENSG00000263026. [Q8WX94-3]
ENST00000588588; ENSP00000467625; ENSG00000263068. [Q8WX94-1]
ENST00000588756; ENSP00000467123; ENSG00000167634. [Q8WX94-3]
ENST00000588840; ENSP00000467159; ENSG00000262009. [Q8WX94-3]
ENST00000589207; ENSP00000466553; ENSG00000262736. [Q8WX94-3]
ENST00000589382; ENSP00000468657; ENSG00000262736. [Q8WX94-3]
ENST00000589500; ENSP00000468589; ENSG00000263068. [Q8WX94-3]
ENST00000589909; ENSP00000467009; ENSG00000262690. [Q8WX94-3]
ENST00000590030; ENSP00000465520; ENSG00000167634. [Q8WX94-1]
ENST00000590391; ENSP00000464834; ENSG00000262457. [Q8WX94-1]
ENST00000590894; ENSP00000466043; ENSG00000262009. [Q8WX94-3]
ENST00000591176; ENSP00000465388; ENSG00000262457. [Q8WX94-3]
ENST00000592036; ENSP00000466171; ENSG00000263168. [Q8WX94-3]
ENST00000592784; ENSP00000468706; ENSG00000167634. [Q8WX94-3]
ENST00000592964; ENSP00000467853; ENSG00000263026. [Q8WX94-3]
ENST00000592978; ENSP00000466323; ENSG00000262736. [Q8WX94-1]
ENST00000593150; ENSP00000466209; ENSG00000262690. [Q8WX94-3]
ENST00000603249; ENSP00000474619; ENSG00000270884. [Q8WX94-3]
ENST00000603510; ENSP00000475132; ENSG00000270884. [Q8WX94-2]
ENST00000605016; ENSP00000474665; ENSG00000270884. [Q8WX94-3]
ENST00000605335; ENSP00000474886; ENSG00000270884. [Q8WX94-1]
ENST00000605486; ENSP00000474261; ENSG00000270884. [Q8WX94-1]
ENST00000605774; ENSP00000473807; ENSG00000270884. [Q8WX94-2]
GeneIDi199713.
KEGGihsa:199713.
UCSCiuc002qig.4. human. [Q8WX94-2]
uc002qih.4. human. [Q8WX94-1]
uc002qii.4. human. [Q8WX94-3]

Polymorphism databases

DMDMi24212128.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

INFEVERS

Repertory of FMF and hereditary autoinflammatory disorders mutations

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF464765 mRNA. Translation: AAL69963.1 .
AY154462 mRNA. Translation: AAO18158.1 .
AC011476 Genomic DNA. No translation available.
BC109125 mRNA. Translation: AAI09126.1 .
BK001113 mRNA. Translation: DAA01246.1 .
CCDSi CCDS12912.1. [Q8WX94-2 ]
CCDS33109.1. [Q8WX94-1 ]
CCDS46183.1. [Q8WX94-3 ]
RefSeqi NP_001120727.1. NM_001127255.1. [Q8WX94-3 ]
NP_631915.2. NM_139176.3. [Q8WX94-2 ]
NP_996611.2. NM_206828.3. [Q8WX94-1 ]
XP_006723138.1. XM_006723075.1. [Q8WX94-3 ]
XP_006723139.1. XM_006723076.1. [Q8WX94-3 ]
XP_006725700.1. XM_006725637.1. [Q8WX94-3 ]
XP_006725701.1. XM_006725638.1. [Q8WX94-3 ]
XP_006725703.1. XM_006725640.1. [Q8WX94-1 ]
XP_006725827.1. XM_006725764.1. [Q8WX94-3 ]
XP_006725828.1. XM_006725765.1. [Q8WX94-3 ]
XP_006725928.1. XM_006725865.1. [Q8WX94-3 ]
XP_006725929.1. XM_006725866.1. [Q8WX94-3 ]
XP_006726016.1. XM_006725953.1. [Q8WX94-3 ]
XP_006726017.1. XM_006725954.1. [Q8WX94-3 ]
XP_006726115.1. XM_006726052.1. [Q8WX94-3 ]
XP_006726116.1. XM_006726053.1. [Q8WX94-3 ]
XP_006726213.1. XM_006726150.1. [Q8WX94-3 ]
XP_006726214.1. XM_006726151.1. [Q8WX94-3 ]
XP_006726253.1. XM_006726190.1. [Q8WX94-3 ]
XP_006726254.1. XM_006726191.1. [Q8WX94-3 ]
XP_006726333.1. XM_006726270.1. [Q8WX94-3 ]
XP_006726334.1. XM_006726271.1. [Q8WX94-3 ]
UniGenei Hs.351118.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2KM6 NMR - A 1-96 [» ]
ProteinModelPortali Q8WX94.
SMRi Q8WX94. Positions 1-96, 603-968.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128265. 2 interactions.
STRINGi 9606.ENSP00000329568.

PTM databases

PhosphoSitei Q8WX94.

Polymorphism databases

DMDMi 24212128.

Proteomic databases

MaxQBi Q8WX94.
PaxDbi Q8WX94.
PRIDEi Q8WX94.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000328092 ; ENSP00000329568 ; ENSG00000167634 . [Q8WX94-2 ]
ENST00000340844 ; ENSP00000339491 ; ENSG00000167634 . [Q8WX94-1 ]
ENST00000448121 ; ENSP00000409137 ; ENSG00000167634 . [Q8WX94-2 ]
ENST00000570326 ; ENSP00000461614 ; ENSG00000262736 . [Q8WX94-2 ]
ENST00000570389 ; ENSP00000461532 ; ENSG00000263168 . [Q8WX94-1 ]
ENST00000571114 ; ENSP00000461064 ; ENSG00000263168 . [Q8WX94-2 ]
ENST00000571118 ; ENSP00000459241 ; ENSG00000263026 . [Q8WX94-2 ]
ENST00000571397 ; ENSP00000461321 ; ENSG00000262690 . [Q8WX94-2 ]
ENST00000571769 ; ENSP00000458231 ; ENSG00000263026 . [Q8WX94-2 ]
ENST00000572166 ; ENSP00000459861 ; ENSG00000262457 . [Q8WX94-2 ]
ENST00000572307 ; ENSP00000458674 ; ENSG00000262457 . [Q8WX94-2 ]
ENST00000573987 ; ENSP00000459596 ; ENSG00000263068 . [Q8WX94-1 ]
ENST00000575015 ; ENSP00000461257 ; ENSG00000262736 . [Q8WX94-2 ]
ENST00000575084 ; ENSP00000458215 ; ENSG00000262009 . [Q8WX94-1 ]
ENST00000575121 ; ENSP00000459698 ; ENSG00000263168 . [Q8WX94-2 ]
ENST00000575386 ; ENSP00000460076 ; ENSG00000262690 . [Q8WX94-1 ]
ENST00000575631 ; ENSP00000459086 ; ENSG00000262009 . [Q8WX94-2 ]
ENST00000576007 ; ENSP00000459959 ; ENSG00000262736 . [Q8WX94-1 ]
ENST00000576081 ; ENSP00000458962 ; ENSG00000262690 . [Q8WX94-2 ]
ENST00000576102 ; ENSP00000458454 ; ENSG00000263026 . [Q8WX94-1 ]
ENST00000576609 ; ENSP00000459548 ; ENSG00000262457 . [Q8WX94-1 ]
ENST00000576715 ; ENSP00000458887 ; ENSG00000262009 . [Q8WX94-2 ]
ENST00000576774 ; ENSP00000460017 ; ENSG00000263068 . [Q8WX94-2 ]
ENST00000576855 ; ENSP00000459718 ; ENSG00000263068 . [Q8WX94-2 ]
ENST00000585738 ; ENSP00000468742 ; ENSG00000263068 . [Q8WX94-3 ]
ENST00000585875 ; ENSP00000467002 ; ENSG00000262009 . [Q8WX94-1 ]
ENST00000586225 ; ENSP00000465333 ; ENSG00000262690 . [Q8WX94-1 ]
ENST00000586640 ; ENSP00000465583 ; ENSG00000263026 . [Q8WX94-1 ]
ENST00000586736 ; ENSP00000464771 ; ENSG00000262457 . [Q8WX94-3 ]
ENST00000586781 ; ENSP00000468204 ; ENSG00000263168 . [Q8WX94-1 ]
ENST00000587685 ; ENSP00000466268 ; ENSG00000263168 . [Q8WX94-3 ]
ENST00000588487 ; ENSP00000467374 ; ENSG00000263026 . [Q8WX94-3 ]
ENST00000588588 ; ENSP00000467625 ; ENSG00000263068 . [Q8WX94-1 ]
ENST00000588756 ; ENSP00000467123 ; ENSG00000167634 . [Q8WX94-3 ]
ENST00000588840 ; ENSP00000467159 ; ENSG00000262009 . [Q8WX94-3 ]
ENST00000589207 ; ENSP00000466553 ; ENSG00000262736 . [Q8WX94-3 ]
ENST00000589382 ; ENSP00000468657 ; ENSG00000262736 . [Q8WX94-3 ]
ENST00000589500 ; ENSP00000468589 ; ENSG00000263068 . [Q8WX94-3 ]
ENST00000589909 ; ENSP00000467009 ; ENSG00000262690 . [Q8WX94-3 ]
ENST00000590030 ; ENSP00000465520 ; ENSG00000167634 . [Q8WX94-1 ]
ENST00000590391 ; ENSP00000464834 ; ENSG00000262457 . [Q8WX94-1 ]
ENST00000590894 ; ENSP00000466043 ; ENSG00000262009 . [Q8WX94-3 ]
ENST00000591176 ; ENSP00000465388 ; ENSG00000262457 . [Q8WX94-3 ]
ENST00000592036 ; ENSP00000466171 ; ENSG00000263168 . [Q8WX94-3 ]
ENST00000592784 ; ENSP00000468706 ; ENSG00000167634 . [Q8WX94-3 ]
ENST00000592964 ; ENSP00000467853 ; ENSG00000263026 . [Q8WX94-3 ]
ENST00000592978 ; ENSP00000466323 ; ENSG00000262736 . [Q8WX94-1 ]
ENST00000593150 ; ENSP00000466209 ; ENSG00000262690 . [Q8WX94-3 ]
ENST00000603249 ; ENSP00000474619 ; ENSG00000270884 . [Q8WX94-3 ]
ENST00000603510 ; ENSP00000475132 ; ENSG00000270884 . [Q8WX94-2 ]
ENST00000605016 ; ENSP00000474665 ; ENSG00000270884 . [Q8WX94-3 ]
ENST00000605335 ; ENSP00000474886 ; ENSG00000270884 . [Q8WX94-1 ]
ENST00000605486 ; ENSP00000474261 ; ENSG00000270884 . [Q8WX94-1 ]
ENST00000605774 ; ENSP00000473807 ; ENSG00000270884 . [Q8WX94-2 ]
GeneIDi 199713.
KEGGi hsa:199713.
UCSCi uc002qig.4. human. [Q8WX94-2 ]
uc002qih.4. human. [Q8WX94-1 ]
uc002qii.4. human. [Q8WX94-3 ]

Organism-specific databases

CTDi 199713.
GeneCardsi GC19M055434.
HGNCi HGNC:22947. NLRP7.
HPAi HPA051382.
MIMi 231090. phenotype.
609661. gene.
neXtProti NX_Q8WX94.
Orphaneti 254688. Complete hydatidiform mole.
254693. Partial hydatidiform mole.
PharmGKBi PA162398003.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG146691.
HOGENOMi HOG000294064.
HOVERGENi HBG103856.
PhylomeDBi Q8WX94.

Miscellaneous databases

ChiTaRSi NLRP7. human.
EvolutionaryTracei Q8WX94.
GeneWikii NLRP7.
GenomeRNAii 199713.
NextBioi 89703.
PROi Q8WX94.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8WX94.
Bgeei Q8WX94.
CleanExi HS_NLRP7.
Genevestigatori Q8WX94.

Family and domain databases

Gene3Di 1.10.533.10. 1 hit.
3.40.50.300. 1 hit.
InterProi IPR004020. DAPIN.
IPR011029. DEATH-like_dom.
IPR007111. NACHT_NTPase.
IPR027417. P-loop_NTPase.
[Graphical view ]
Pfami PF02758. PYRIN. 1 hit.
[Graphical view ]
SUPFAMi SSF47986. SSF47986. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEi PS50824. DAPIN. 1 hit.
PS50837. NACHT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing."
    Wang L., Manji G.A., Grenier J.M., Al-Garawi A., Merriam S., Lora J.M., Geddes B.J., Briskin M., DiStefano P.S., Bertin J.
    J. Biol. Chem. 277:29874-29880(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  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] (ISOFORM 1).
  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].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  5. "NODs: intracellular proteins involved in inflammation and apoptosis."
    Inohara N., Nunez G.
    Nat. Rev. Immunol. 3:371-382(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION (ISOFORM 2).
  6. "PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion."
    Kinoshita T., Wang Y., Hasegawa M., Imamura R., Suda T.
    J. Biol. Chem. 280:21720-21725(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH CASP1 AND IL1B, TISSUE SPECIFICITY.
  7. "Three-dimensional structure of the NLRP7 pyrin domain: insight into pyrin-pyrin-mediated effector domain signaling in innate immunity."
    Pinheiro A.S., Proell M., Eibl C., Page R., Schwarzenbacher R., Peti W.
    J. Biol. Chem. 285:27402-27410(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 1-96.
  8. "Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans."
    Murdoch S., Djuric U., Mazhar B., Seoud M., Khan R., Kuick R., Bagga R., Kircheisen R., Ao A., Ratti B., Hanash S., Rouleau G.A., Slim R.
    Nat. Genet. 38:300-302(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HYDM1 TRP-693; PRO-693 AND SER-913, TISSUE SPECIFICITY.
  9. "Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region."
    Wang C.M., Dixon P.H., Decordova S., Hodges M.D., Sebire N.J., Ozalp S., Fallahian M., Sensi A., Ashrafi F., Repiska V., Zhao J., Xiang Y., Savage P.M., Seckl M.J., Fisher R.A.
    J. Med. Genet. 46:569-575(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HYDM1 ARG-398; SER-651; TRP-693; PRO-693; GLN-693; ALA-716; TRP-721; TYR-761 AND SER-913.

Entry informationi

Entry nameiNALP7_HUMAN
AccessioniPrimary (citable) accession number: Q8WX94
Secondary accession number(s): E9PE16, Q32MH8, Q7RTR1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: March 1, 2002
Last modified: July 9, 2014
This is version 113 of the entry and version 1 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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