Q8WX94 (NALP7_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 102.
History...
Clusters with 
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 980 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Inhibits CASP1/caspase-1-dependent IL1B secretion. Ref.6 |
| Subunit structure | Directly interacts with CASP1 and IL1B. Ref.6 |
| Tissue specificity | Expressed in numerous tissues including uterus and ovary, with low levels in heart and brain. Not detected in skeletal muscle. Ref.6 Ref.8 |
| Induction | By bacterial lipopolysaccharides (LPS) and IL1B/interleukin-1 beta in peripheral blood mononuclear cells. |
| Involvement in disease | 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. |
| Sequence similarities | Belongs to the NLRP family. Contains 1 DAPIN domain. Contains 9 LRR (leucine-rich) repeats. Contains 1 NACHT domain. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation |
| Domain | Leucine-rich repeat Repeat |
| Ligand | ATP-binding Nucleotide-binding |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8WX94-1) 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. | ||||||
| Isoform 2 (identifier: Q8WX94-2) The sequence of this isoform differs from the canonical sequence as follows: 644-671: Missing. 938-938: L → LWSCSLMPFYCQHLGSALLSNQKLETLDLGQNHLWKSGIIKLFGVLRQRTGSLKILRL | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q8WX94-3) The sequence of this isoform differs from the canonical sequence as follows: 938-938: L → LWSCSLMPFYCQHLGSALLSNQKLETLDLGQNHLWKSGIIKLFGVLRQRTGSLKILRL | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 980 | 980 | NACHT, LRR and PYD domains-containing protein 7 | PRO_0000080895 | ||||||||||||||||||||
Regions | ||||||||||||||||||||||||
| Domain | 1 – 93 | 93 | DAPIN | |||||||||||||||||||||
| Domain | 172 – 491 | 320 | NACHT | |||||||||||||||||||||
| Repeat | 614 – 638 | 25 | LRR 1 | |||||||||||||||||||||
| Repeat | 674 – 697 | 24 | LRR 2 | |||||||||||||||||||||
| Repeat | 760 – 784 | 25 | LRR 3 | |||||||||||||||||||||
| Repeat | 788 – 810 | 23 | LRR 4 | |||||||||||||||||||||
| Repeat | 817 – 840 | 24 | LRR 5 | |||||||||||||||||||||
| Repeat | 845 – 868 | 24 | LRR 6 | |||||||||||||||||||||
| Repeat | 874 – 897 | 24 | LRR 7 | |||||||||||||||||||||
| Repeat | 902 – 928 | 27 | LRR 8 | |||||||||||||||||||||
| Repeat | 933 – 957 | 25 | LRR 9 | |||||||||||||||||||||
| Nucleotide binding | 178 – 185 | 8 | ATP Potential | |||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||
| Alternative sequence | 644 – 671 | 28 | Missing in isoform 2. | VSP_016906 | ||||||||||||||||||||
| Alternative sequence | 938 | 1 | L → LWSCSLMPFYCQHLGSALLS NQKLETLDLGQNHLWKSGII KLFGVLRQRTGSLKILRL in isoform 2 and isoform 3. | VSP_016907 | ||||||||||||||||||||
| Natural variant | 319 | 1 | V → I. Corresponds to variant rs775882 [ dbSNP | Ensembl ]. | VAR_026710 | ||||||||||||||||||||
| Natural variant | 398 | 1 | L → R in HYDM1. Ref.9 | VAR_059035 | ||||||||||||||||||||
| Natural variant | 487 | 1 | G → E. Corresponds to variant rs775881 [ dbSNP | Ensembl ]. | VAR_060103 | ||||||||||||||||||||
| Natural variant | 651 | 1 | P → S in HYDM1. Ref.9 | VAR_059036 | ||||||||||||||||||||
| Natural variant | 693 | 1 | R → P in HYDM1. Ref.8 Ref.9 | VAR_026711 | ||||||||||||||||||||
| Natural variant | 693 | 1 | R → Q in HYDM1. Ref.9 | VAR_059037 | ||||||||||||||||||||
| Natural variant | 693 | 1 | R → W in HYDM1. Ref.8 Ref.9 | VAR_026712 | ||||||||||||||||||||
| Natural variant | 716 | 1 | P → A in HYDM1. Ref.9 | VAR_059038 | ||||||||||||||||||||
| Natural variant | 721 | 1 | R → W in HYDM1. Ref.9 | VAR_059039 | ||||||||||||||||||||
| Natural variant | 761 | 1 | C → Y in HYDM1. Ref.9 | VAR_059040 | ||||||||||||||||||||
| Natural variant | 913 | 1 | N → S in HYDM1. Ref.8 Ref.9 | VAR_026713 | ||||||||||||||||||||
| Natural variant | 971 | 1 | T → A. Corresponds to variant rs7256020 [ dbSNP | Ensembl ]. | VAR_026714 | ||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||
| Sequence conflict | 310 – 311 | 2 | QL → RI in AAI09126. Ref.4 | |||||||||||||||||||||
| Sequence conflict | 481 | 1 | A → T in AAI09126. Ref.4 | |||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||
| Helix | 4 – 16 | 13 | ||||||||||||||||||||||
| Helix | 21 – 29 | 9 | ||||||||||||||||||||||
| Helix | 38 – 40 | 3 | ||||||||||||||||||||||
| Helix | 43 – 48 | 6 | ||||||||||||||||||||||
| Helix | 52 – 61 | 10 | ||||||||||||||||||||||
| Helix | 64 – 77 | 14 | ||||||||||||||||||||||
| Helix | 84 – 87 | 4 | ||||||||||||||||||||||
| Turn | 88 – 91 | 4 | ||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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.  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. |
| + | Additional computationally mapped references. |
Web resources
| INFEVERS Repertory of FMF and hereditary autoinflammatory disorders mutations |
Cross-references
Entry information
| Entry name | NALP7_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8WX94 Secondary accession number(s): E9PE16, Q32MH8, Q7RTR1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |