P59047 · NALP5_HUMAN
- ProteinNACHT, LRR and PYD domains-containing protein 5
- GeneNLRP5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1200 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions via regulation of actin dynamics (By similarity).
Required for the formation of F-actin cytoplasmic lattices (CPL) in oocytes, which in turn are responsible for symmetric division of zygotes via the regulation of mitotic spindle formation and positioning (By similarity).
Required for the localization of cortical granules to the cortex of oocytes, via association with the cortical actin scaffold (By similarity).
Required for cortical actin clearance prior to oocyte exocytosis (By similarity).
Involved in regulating post-fertilization Ca2+ release and endoplasmic reticulum (ER) storage via regulation of ER localization (By similarity).
May be involved in the localization of mitochondria to the cytoplasm and perinuclear region in oocytes and early stage embryos, independent of its role in CPL formation (By similarity).
Required for the formation of F-actin cytoplasmic lattices (CPL) in oocytes, which in turn are responsible for symmetric division of zygotes via the regulation of mitotic spindle formation and positioning (By similarity).
Required for the localization of cortical granules to the cortex of oocytes, via association with the cortical actin scaffold (By similarity).
Required for cortical actin clearance prior to oocyte exocytosis (By similarity).
Involved in regulating post-fertilization Ca2+ release and endoplasmic reticulum (ER) storage via regulation of ER localization (By similarity).
May be involved in the localization of mitochondria to the cytoplasm and perinuclear region in oocytes and early stage embryos, independent of its role in CPL formation (By similarity).
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cell cortex | |
Cellular Component | cortical granule | |
Cellular Component | cytoplasm | |
Cellular Component | cytosol | |
Cellular Component | Golgi apparatus | |
Cellular Component | intracellular membrane-bounded organelle | |
Cellular Component | mitochondrion | |
Cellular Component | nucleolus | |
Cellular Component | nucleus | |
Cellular Component | subcortical maternal complex | |
Molecular Function | ATP binding | |
Molecular Function | tubulin binding | |
Biological Process | actin filament organization | |
Biological Process | cortical granule exocytosis | |
Biological Process | establishment of organelle localization | |
Biological Process | establishment of spindle localization | |
Biological Process | exocytosis | |
Biological Process | positive regulation of embryonic development | |
Biological Process | regulation of cell division | |
Biological Process | regulation of inflammatory response | |
Biological Process | regulation of localization |
Keywords
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameNACHT, LRR and PYD domains-containing protein 5
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP59047
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Oocyte/zygote/embryo maturation arrest 19 (OZEMA19)
- Note
- DescriptionAn autosomal recessive female infertility disorder characterized by reduced fertilization rate, oocyte maturation arrest at germinal vesicle stage, and early embryonic arrest.
- See alsoMIM:620333
Natural variants in OZEMA19
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_084573 | 98-1200 | missing | in OZEMA19 | |
VAR_084173 | 143 | R>P | in OZEMA19; uncertain significance; dbSNP:rs746147069 | |
VAR_084574 | 289 | G>E | in OZEMA19; uncertain significance | |
VAR_088463 | 324 | M>K | in OZEMA19; uncertain significance; dbSNP:rs1315962033 | |
VAR_084576 | 354 | P>L | in OZEMA19; uncertain significance; dbSNP:rs763987829 | |
VAR_088464 | 401 | P>L | in OZEMA19; uncertain significance; dbSNP:rs2123304620 | |
VAR_084174 | 462 | R>C | in OZEMA19; uncertain significance; dbSNP:rs199475775 | |
VAR_084578 | 533 | R>P | in OZEMA19; uncertain significance; dbSNP:rs752560793 | |
VAR_084175 | 635 | R>C | in OZEMA19; uncertain significance; dbSNP:rs373407667 | |
VAR_084580 | 640 | L>R | in OZEMA19; uncertain significance | |
VAR_084581 | 694 | T>I | in OZEMA19; uncertain significance; dbSNP:rs1235069213 | |
VAR_088465 | 793 | L>R | in OZEMA19; uncertain significance; dbSNP:rs1983168721 | |
VAR_084176 | 893 | S>T | in OZEMA19; uncertain significance; dbSNP:rs769920247 | |
VAR_084584 | 1107 | T>I | in OZEMA19; uncertain significance; dbSNP:rs1381057964 | |
VAR_088466 | 1114 | L>P | in OZEMA19; uncertain significance; dbSNP:rs2123346394 | |
VAR_088467 | 1116 | L>W | in OZEMA19; uncertain significance; dbSNP:rs773877703 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_084570 | 23 | found in a patient with features of Silver-Russell syndrome and multi-locus imprinting disturbance; uncertain significance; dbSNP:rs753824534 | |||
Sequence: V → D | ||||||
Natural variant | VAR_084571 | 52 | found in patients with Beckwith-Wiedemann syndrome and multi-locus imprinting disturbance; when associated in cis with Q-76; uncertain significance; dbSNP:rs752189640 | |||
Sequence: M → T | ||||||
Natural variant | VAR_084572 | 76 | found in patients with Beckwith-Wiedemann syndrome and multi-locus imprinting disturbance; when associated in cis with T-52; uncertain significance; dbSNP:rs758399773 | |||
Sequence: E → Q | ||||||
Natural variant | VAR_084573 | 98-1200 | in OZEMA19 | |||
Sequence: Missing | ||||||
Natural variant | VAR_084173 | 143 | in OZEMA19; uncertain significance; dbSNP:rs746147069 | |||
Sequence: R → P | ||||||
Natural variant | VAR_084574 | 289 | in OZEMA19; uncertain significance | |||
Sequence: G → E | ||||||
Natural variant | VAR_088463 | 324 | in OZEMA19; uncertain significance; dbSNP:rs1315962033 | |||
Sequence: M → K | ||||||
Natural variant | VAR_084575 | 353-1200 | found in an individual with no overt clinical disease and multi-locus imprinting disturbance; uncertain significance | |||
Sequence: Missing | ||||||
Natural variant | VAR_084576 | 354 | in OZEMA19; uncertain significance; dbSNP:rs763987829 | |||
Sequence: P → L | ||||||
Natural variant | VAR_088464 | 401 | in OZEMA19; uncertain significance; dbSNP:rs2123304620 | |||
Sequence: P → L | ||||||
Natural variant | VAR_060095 | 459 | in dbSNP:rs471979 | |||
Sequence: M → I | ||||||
Natural variant | VAR_084174 | 462 | in OZEMA19; uncertain significance; dbSNP:rs199475775 | |||
Sequence: R → C | ||||||
Natural variant | VAR_084577 | 533 | found in a patient with mild cognitive retardation and multi-locus imprinting disturbance; uncertain significance; dbSNP:rs754695863 | |||
Sequence: R → C | ||||||
Natural variant | VAR_084578 | 533 | in OZEMA19; uncertain significance; dbSNP:rs752560793 | |||
Sequence: R → P | ||||||
Natural variant | VAR_084579 | 555 | found in a patient with Beckwith-Wiedemann syndrome and multi-locus imprinting disturbance; uncertain significance | |||
Sequence: G → V | ||||||
Natural variant | VAR_060096 | 584 | in dbSNP:rs34395092 | |||
Sequence: H → P | ||||||
Natural variant | VAR_084175 | 635 | in OZEMA19; uncertain significance; dbSNP:rs373407667 | |||
Sequence: R → C | ||||||
Natural variant | VAR_084580 | 640 | in OZEMA19; uncertain significance | |||
Sequence: L → R | ||||||
Natural variant | VAR_084581 | 694 | in OZEMA19; uncertain significance; dbSNP:rs1235069213 | |||
Sequence: T → I | ||||||
Natural variant | VAR_060097 | 761 | in dbSNP:rs17713875 | |||
Sequence: R → L | ||||||
Natural variant | VAR_084582 | 774 | found in a patient with Silver-Russell syndrome and multi-locus imprinting disturbance; uncertain significance; dbSNP:rs370837790 | |||
Sequence: C → R | ||||||
Natural variant | VAR_084583 | 785-1200 | found in a patient with Beckwith-Wiedemann syndrome and multi-locus imprinting disturbance; uncertain significance; dbSNP:rs200446614 | |||
Sequence: Missing | ||||||
Natural variant | VAR_088465 | 793 | in OZEMA19; uncertain significance; dbSNP:rs1983168721 | |||
Sequence: L → R | ||||||
Natural variant | VAR_084176 | 893 | in OZEMA19; uncertain significance; dbSNP:rs769920247 | |||
Sequence: S → T | ||||||
Natural variant | VAR_060098 | 912 | in dbSNP:rs16986899 | |||
Sequence: M → T | ||||||
Natural variant | VAR_060099 | 1097 | in dbSNP:rs3103057 | |||
Sequence: A → T | ||||||
Natural variant | VAR_084584 | 1107 | in OZEMA19; uncertain significance; dbSNP:rs1381057964 | |||
Sequence: T → I | ||||||
Natural variant | VAR_060100 | 1108 | in dbSNP:rs12462795 | |||
Sequence: S → C | ||||||
Natural variant | VAR_088466 | 1114 | in OZEMA19; uncertain significance; dbSNP:rs2123346394 | |||
Sequence: L → P | ||||||
Natural variant | VAR_088467 | 1116 | in OZEMA19; uncertain significance; dbSNP:rs773877703 | |||
Sequence: L → W | ||||||
Natural variant | VAR_060101 | 1181 | in dbSNP:rs10409555 | |||
Sequence: V → I | ||||||
Natural variant | VAR_060102 | 1195 | in dbSNP:rs36118060 | |||
Sequence: R → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,805 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000080890 | 1-1200 | NACHT, LRR and PYD domains-containing protein 5 | |||
Sequence: MKVAGGLELGAAALLSASPRALVTLSTGPTCSILPKNPLFPQNLSSQPCIKMEGDKSLTFSSYGLQWCLYELDKEEFQTFKELLKKKSSESTTCSIPQFEIENANVECLALLLHEYYGASLAWATSISIFENMNLRTLSEKARDDMKRHSPEDPEATMTDQGPSKEKVPGISQAVQQDSATAAETKEQEISQAMEQEGATAAETEEQEISQAMEQEGATAAETEEQGHGGDTWDYKSHVMTKFAEEEDVRRSFENTAADWPEMQTLAGAFDSDRWGFRPRTVVLHGKSGIGKSALARRIVLCWAQGGLYQGMFSYVFFLPVREMQRKKESSVTEFISREWPDSQAPVTEIMSRPERLLFIIDGFDDLGSVLNNDTKLCKDWAEKQPPFTLIRSLLRKVLLPESFLIVTVRDVGTEKLKSEVVSPRYLLVRGISGEQRIHLLLERGIGEHQKTQGLRAIMNNRELLDQCQVPAVGSLICVALQLQDVVGESVAPFNQTLTGLHAAFVFHQLTPRGVVRRCLNLEERVVLKRFCRMAVEGVWNRKSVFDGDDLMVQGLGESELRALFHMNILLPDSHCEEYYTFFHLSLQDFCAALYYVLEGLEIEPALCPLYVEKTKRSMELKQAGFHIHSLWMKRFLFGLVSEDVRRPLEVLLGCPVPLGVKQKLLHWVSLLGQQPNATTPGDTLDAFHCLFETQDKEFVRLALNSFQEVWLPINQNLDLIASSFCLQHCPYLRKIRVDVKGIFPRDESAEACPVVPLWMRDKTLIEEQWEDFCSMLGTHPHLRQLDLGSSILTERAMKTLCAKLRHPTCKIQTLMFRNAQITPGVQHLWRIVMANRNLRSLNLGGTHLKEEDVRMACEALKHPKCLLESLRLDCCGLTHACYLKISQILTTSPSLKSLSLAGNKVTDQGVMPLSDALRVSQCALQKLILEDCGITATGCQSLASALVSNRSLTHLCLSNNSLGNEGVNLLCRSMRLPHCSLQRLMLNQCHLDTAGCGFLALALMGNSWLTHLSLSMNPVEDNGVKLLCEVMREPSCHLQDLELVKCHLTAACCESLSCVISRSRHLKSLDLTDNALGDGGVAALCEGLKQKNSVLARLGLKACGLTSDCCEALSLALSCNRHLTSLNLVQNNFSPKGMMKLCSAFACPTSNLQIIGLWKWQYPVQIRKLLEEVQLLKPRVVIDGSWHSFDEDDRYWWKN |
Post-translational modification
Phosphorylated by PRKCE.
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in cumulus cells (at protein level) (PubMed:19542546).
Highly abundant in oocytes and early embryos, however poorly expressed in somatic tissues such as the liver and spinal cord (PubMed:11925379, PubMed:30877238).
Highly abundant in oocytes and early embryos, however poorly expressed in somatic tissues such as the liver and spinal cord (PubMed:11925379, PubMed:30877238).
Developmental stage
Expressed at all stages during oocyte maturation, additionally expressed in granulosa cells and cumulus oophorus cells (PubMed:19192343).
Expressed primarily with other SCMC components in the subcortex of oocytes and early embryos (PubMed:25542835).
Expression is excluded from cell-cell contact regions after the 2-cell stage (PubMed:25542835).
Expressed primarily with other SCMC components in the subcortex of oocytes and early embryos (PubMed:25542835).
Expression is excluded from cell-cell contact regions after the 2-cell stage (PubMed:25542835).
Gene expression databases
Organism-specific databases
Interaction
Subunit
Component of the subcortical maternal complex (SCMC), at least composed of NLRP5, KHDC3, OOEP, and TLE6 isoform 1 (PubMed:25542835).
Within the complex, interacts with OOEP, KHDC3L and TLE6 (PubMed:25542835).
The SCMC may facilitate translocation of its components between the nuclear and cytoplasmic compartments (PubMed:25542835).
As part of the SCMC interacts with the SCMC-associated protein ZBED3 (By similarity).
As part of the SCMC interacts with the SCMC-associated protein CFL1/Cofilin-1 (By similarity).
Interacts with PRKCE (PubMed:19542546).
Interacts with TUBB3 at cytoskeleton microtubules (PubMed:24374158).
Within the complex, interacts with OOEP, KHDC3L and TLE6 (PubMed:25542835).
The SCMC may facilitate translocation of its components between the nuclear and cytoplasmic compartments (PubMed:25542835).
As part of the SCMC interacts with the SCMC-associated protein ZBED3 (By similarity).
As part of the SCMC interacts with the SCMC-associated protein CFL1/Cofilin-1 (By similarity).
Interacts with PRKCE (PubMed:19542546).
Interacts with TUBB3 at cytoskeleton microtubules (PubMed:24374158).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P59047 | KHDC3L Q587J8 | 2 | EBI-11071382, EBI-22731520 | |
BINARY | P59047 | OOEP A6NGQ2 | 2 | EBI-11071382, EBI-18583589 | |
BINARY | P59047 | TLE6 Q9H808-1 | 2 | EBI-11071382, EBI-32711753 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, region, compositional bias, repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 57-148 | Pyrin | ||||
Sequence: SLTFSSYGLQWCLYELDKEEFQTFKELLKKKSSESTTCSIPQFEIENANVECLALLLHEYYGASLAWATSISIFENMNLRTLSEKARDDMKR | ||||||
Region | 142-232 | Disordered | ||||
Sequence: ARDDMKRHSPEDPEATMTDQGPSKEKVPGISQAVQQDSATAAETKEQEISQAMEQEGATAAETEEQEISQAMEQEGATAAETEEQGHGGDT | ||||||
Compositional bias | 170-217 | Polar residues | ||||
Sequence: GISQAVQQDSATAAETKEQEISQAMEQEGATAAETEEQEISQAMEQEG | ||||||
Domain | 280-602 | NACHT | ||||
Sequence: RTVVLHGKSGIGKSALARRIVLCWAQGGLYQGMFSYVFFLPVREMQRKKESSVTEFISREWPDSQAPVTEIMSRPERLLFIIDGFDDLGSVLNNDTKLCKDWAEKQPPFTLIRSLLRKVLLPESFLIVTVRDVGTEKLKSEVVSPRYLLVRGISGEQRIHLLLERGIGEHQKTQGLRAIMNNRELLDQCQVPAVGSLICVALQLQDVVGESVAPFNQTLTGLHAAFVFHQLTPRGVVRRCLNLEERVVLKRFCRMAVEGVWNRKSVFDGDDLMVQGLGESELRALFHMNILLPDSHCEEYYTFFHLSLQDFCAALYYVLEGLE | ||||||
Repeat | 704-727 | LRR 1 | ||||
Sequence: LNSFQEVWLPINQNLDLIASSFCL | ||||||
Repeat | 730-753 | LRR 2 | ||||
Sequence: CPYLRKIRVDVKGIFPRDESAEAC | ||||||
Repeat | 780-803 | LRR 3 | ||||
Sequence: HPHLRQLDLGSSILTERAMKTLCA | ||||||
Repeat | 809-832 | LRR 4 | ||||
Sequence: TCKIQTLMFRNAQITPGVQHLWRI | ||||||
Repeat | 836-863 | LRR 5 | ||||
Sequence: NRNLRSLNLGGTHLKEEDVRMACEALKH | ||||||
Repeat | 865-892 | LRR 6 | ||||
Sequence: KCLLESLRLDCCGLTHACYLKISQILTT | ||||||
Repeat | 893-916 | LRR 7 | ||||
Sequence: SPSLKSLSLAGNKVTDQGVMPLSD | ||||||
Repeat | 950-973 | LRR 8 | ||||
Sequence: NRSLTHLCLSNNSLGNEGVNLLCR | ||||||
Repeat | 979-1002 | LRR 9 | ||||
Sequence: HCSLQRLMLNQCHLDTAGCGFLAL | ||||||
Repeat | 1007-1034 | LRR 10 | ||||
Sequence: NSWLTHLSLSMNPVEDNGVKLLCEVMRE | ||||||
Repeat | 1036-1059 | LRR 11 | ||||
Sequence: SCHLQDLELVKCHLTAACCESLSC | ||||||
Repeat | 1064-1092 | LRR 12 | ||||
Sequence: SRHLKSLDLTDNALGDGGVAALCEGLKQK | ||||||
Repeat | 1121-1142 | LRR 13 | ||||
Sequence: NRHLTSLNLVQNNFSPKGMMKL |
Sequence similarities
Belongs to the NLRP family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length1,200
- Mass (Da)134,342
- Last updated2008-11-25 v2
- ChecksumA1C6DB1003A2A1BC
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
M0R0W4 | M0R0W4_HUMAN | NLRP5 | 178 |
Features
Showing features for compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 170-217 | Polar residues | ||||
Sequence: GISQAVQQDSATAAETKEQEISQAMEQEGATAAETEEQEISQAMEQEG | ||||||
Sequence conflict | 506 | in Ref. 1; AAL15549 | ||||
Sequence: V → A | ||||||
Sequence conflict | 999 | in Ref. 1; AAL15549 | ||||
Sequence: F → S |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY054986 EMBL· GenBank· DDBJ | AAL15549.1 EMBL· GenBank· DDBJ | mRNA | ||
AY154460 EMBL· GenBank· DDBJ | AAO18156.1 EMBL· GenBank· DDBJ | mRNA | ||
AC011470 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC024580 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. |