NALP5_HUMAN
ID NALP5_HUMAN Reviewed; 1200 AA.
AC P59047; A8MTY4; Q86W29;
DT 19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=NACHT, LRR and PYD domains-containing protein 5;
DE AltName: Full=Mater protein homolog;
DE AltName: Full=Maternal Antigen that Embryos Require {ECO:0000303|PubMed:19542546};
GN Name=NLRP5; Synonyms=MATER {ECO:0000303|PubMed:19542546}, NALP5;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANTS ILE-459;
RP THR-912 AND THR-1097.
RC TISSUE=Ovary;
RX PubMed=11925379; DOI=10.1093/humrep/17.4.903;
RA Tong Z.-B., Bondy C.A., Zhou J., Nelson L.M.;
RT "A human homologue of mouse Mater, a maternal effect gene essential for
RT early embryonic development.";
RL Hum. Reprod. 17:903-911(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT THR-1097.
RX PubMed=12563287; DOI=10.1038/nrm1019;
RA Tschopp J., Martinon F., Burns K.;
RT "NALPs: a novel protein family involved in inflammation.";
RL Nat. Rev. Mol. Cell Biol. 4:95-104(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [4]
RP INTERACTION WITH PRKCE, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND
RP PHOSPHORYLATION.
RX PubMed=19542546; DOI=10.1093/molehr/gap048;
RA Maraldi T., Riccio M., Sena P., Marzona L., Nicoli A., La Marca A.,
RA Marmiroli S., Bertacchini J., La Sala G., De Pol A.;
RT "MATER protein as substrate of PKCepsilon in human cumulus cells.";
RL Mol. Hum. Reprod. 15:499-506(2009).
RN [5]
RP SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
RX PubMed=19192343; DOI=10.1016/s1472-6483(10)60260-x;
RA Sena P., Riccio M., Marzona L., Nicoli A., Marsella T., Marmiroli S.,
RA Bertacchini J., Fano R.A., La Sala G.B., De Pol A.;
RT "Human MATER localization in specific cell domains of oocytes and
RT follicular cells.";
RL Reprod. BioMed. Online 18:226-234(2009).
RN [6]
RP INTERACTION WITH TUBB3.
RX PubMed=24374158; DOI=10.1016/j.ydbio.2013.12.025;
RA Kim B., Zhang X., Kan R., Cohen R., Mukai C., Travis A.J., Coonrod S.A.;
RT "The role of MATER in endoplasmic reticulum distribution and calcium
RT homeostasis in mouse oocytes.";
RL Dev. Biol. 386:331-339(2014).
RN [7]
RP IDENTIFICATION IN THE SCMC COMPLEX, SUBCELLULAR LOCATION, AND DEVELOPMENTAL
RP STAGE.
RX PubMed=25542835; DOI=10.1093/molehr/gau116;
RA Zhu K., Yan L., Zhang X., Lu X., Wang T., Yan J., Liu X., Qiao J., Li L.;
RT "Identification of a human subcortical maternal complex.";
RL Mol. Hum. Reprod. 21:320-329(2015).
RN [8]
RP VARIANTS THR-52; GLN-76; VAL-555; ARG-774 AND 785-GLN--ASN-1200 DEL.
RX PubMed=26323243; DOI=10.1038/ncomms9086;
RA Docherty L.E., Rezwan F.I., Poole R.L., Turner C.L., Kivuva E., Maher E.R.,
RA Smithson S.F., Hamilton-Shield J.P., Patalan M., Gizewska M.,
RA Peregud-Pogorzelski J., Beygo J., Buiting K., Horsthemke B., Soellner L.,
RA Begemann M., Eggermann T., Baple E., Mansour S., Temple I.K., Mackay D.J.;
RT "Mutations in NLRP5 are associated with reproductive wastage and multilocus
RT imprinting disorders in humans.";
RL Nat. Commun. 6:8086-8086(2015).
RN [9]
RP VARIANTS ILE-459 AND LEU-761.
RX PubMed=28501589; DOI=10.1016/j.clim.2017.05.009;
RA Sadovnick A.D., Traboulsee A.L., Zhao Y., Bernales C.Q., Encarnacion M.,
RA Ross J.P., Yee I.M., Criscuoli M.G., Vilarino-Gueell C.;
RT "Genetic modifiers of multiple sclerosis progression, severity and onset.";
RL Clin. Immunol. 180:100-105(2017).
RN [10]
RP VARIANTS CYS-533 AND ARG-353--ASN-1200 DEL.
RX PubMed=31829238; DOI=10.1186/s13148-019-0760-8;
RA Sparago A., Verma A., Patricelli M.G., Pignata L., Russo S., Calzari L.,
RA De Francesco N., Del Prete R., Palumbo O., Carella M., Mackay D.J.G.,
RA Rezwan F.I., Angelini C., Cerrato F., Cubellis M.V., Riccio A.;
RT "The phenotypic variations of multi-locus imprinting disturbances
RT associated with maternal-effect variants of NLRP5 range from overt
RT imprinting disorder to apparently healthy phenotype.";
RL Clin. Epigenetics 11:190-190(2019).
RN [11]
RP VARIANT ASP-23.
RX PubMed=30218098; DOI=10.1038/s41431-018-0269-1;
RA Soellner L., Kraft F., Sauer S., Begemann M., Kurth I., Elbracht M.,
RA Eggermann T.;
RT "Search for cis-acting factors and maternal effect variants in Silver-
RT Russell patients with ICR1 hypomethylation and their mothers.";
RL Eur. J. Hum. Genet. 27:42-48(2019).
RN [12]
RP TISSUE SPECIFICITY, CHARACTERIZATION OF VARIANTS GLU-289 AND ILE-1107, AND
RP VARIANTS ILE-694 AND 98-GLN--ASN-1200 DEL.
RX PubMed=30877238; DOI=10.1136/jmedgenet-2018-105936;
RA Mu J., Wang W., Chen B., Wu L., Li B., Mao X., Zhang Z., Fu J., Kuang Y.,
RA Sun X., Li Q., Jin L., He L., Sang Q., Wang L.;
RT "Mutations in NLRP2 and NLRP5 cause female infertility characterised by
RT early embryonic arrest.";
RL J. Med. Genet. 56:471-480(2019).
RN [13]
RP VARIANT LEU-354.
RX PubMed=32222962; DOI=10.1111/cge.13744;
RA Xu Y., Qian Y., Liu Y., Wang Q., Wang R., Zhou Y., Zhang C., Pang Z.,
RA Ye H., Xue S., Sun L.;
RT "A novel homozygous variant in NLRP5 is associate with human early
RT embryonic arrest in a consanguineous Chinese family.";
RL Clin. Genet. 98:69-73(2020).
RN [14]
RP VARIANTS PRO-143; CYS-462; CYS-635 AND THR-893.
RX PubMed=33020905; DOI=10.1111/cge.13858;
RA Zheng W., Hu H., Dai J., Zhang S., Gu Y., Dai C., Guo J., Xu X., Li Y.,
RA Zhang S., Hu L., Gong F., Lu G., Lin G.;
RT "Expanding the genetic and phenotypic spectrum of the subcortical maternal
RT complex genes in recurrent preimplantation embryonic arrest.";
RL Clin. Genet. 99:286-291(2021).
RN [15]
RP VARIANTS PRO-533 AND ARG-640.
RX PubMed=33073652; DOI=10.1080/09513590.2020.1832069;
RA Li M., Jia M., Zhao X., Shi R., Xue X.;
RT "A new NLRP5 mutation causes female infertility and total fertilization
RT failure.";
RL Gynecol. Endocrinol. 1:1-2(2020).
CC -!- FUNCTION: As a member of the subcortical maternal complex (SCMC), plays
CC an essential role for zygotes to progress beyond the first embryonic
CC cell divisions via regulation of actin dynamics (By similarity).
CC Required for the formation of F-actin cytoplasmic lattices (CPL) in
CC oocytes, which in turn are responsible for symmetric division of
CC zygotes via the regulation of mitotic spindle formation and positioning
CC (By similarity). Required for the localization of cortical granules to
CC the cortex of oocytes, via association with the cortical actin scaffold
CC (By similarity). Required for cortical actin clearance prior to oocyte
CC exocytosis (By similarity). Involved in regulating post-fertilization
CC Ca(2+) release and endoplasmic reticulum (ER) storage via regulation of
CC ER localization (By similarity). May be involved in the localization of
CC mitochondria to the cytoplasm and perinuclear region in oocytes and
CC early stage embryos, independent of its role in CPL formation (By
CC similarity). {ECO:0000250|UniProtKB:Q9R1M5}.
CC -!- SUBUNIT: Component of the subcortical maternal complex (SCMC), at least
CC composed of NLRP5, KHDC3, OOEP, and TLE6 isoform 1 (PubMed:25542835).
CC Within the complex, interacts with OOEP, KHDC3L and TLE6
CC (PubMed:25542835). The SCMC may facilitate translocation of its
CC components between the nuclear and cytoplasmic compartments
CC (PubMed:25542835). As part of the SCMC interacts with the SCMC-
CC associated protein ZBED3 (By similarity). As part of the SCMC interacts
CC with the SCMC-associated protein CFL1/Cofilin-1 (By similarity).
CC Interacts with PRKCE (PubMed:19542546). Interacts with TUBB3 at
CC cytoskeleton microtubules (PubMed:24374158).
CC {ECO:0000250|UniProtKB:Q9R1M5, ECO:0000269|PubMed:19542546,
CC ECO:0000269|PubMed:24374158, ECO:0000269|PubMed:25542835}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, Cortical
CC granule {ECO:0000269|PubMed:19192343}. Mitochondrion
CC {ECO:0000269|PubMed:19192343}. Nucleus, nucleolus
CC {ECO:0000269|PubMed:19192343, ECO:0000269|PubMed:25542835}. Cytoplasm
CC {ECO:0000269|PubMed:19192343, ECO:0000269|PubMed:19542546,
CC ECO:0000269|PubMed:25542835}. Golgi apparatus
CC {ECO:0000269|PubMed:19192343}.
CC -!- TISSUE SPECIFICITY: Expressed in cumulus cells (at protein level)
CC (PubMed:19542546). Highly abundant in oocytes and early embryos,
CC however poorly expressed in somatic tissues such as the liver and
CC spinal cord (PubMed:11925379, PubMed:30877238).
CC {ECO:0000269|PubMed:11925379, ECO:0000269|PubMed:19542546,
CC ECO:0000269|PubMed:30877238}.
CC -!- DEVELOPMENTAL STAGE: Expressed at all stages during oocyte maturation,
CC additionally expressed in granulosa cells and cumulus oophorus cells
CC (PubMed:19192343). Expressed primarily with other SCMC components in
CC the subcortex of oocytes and early embryos (PubMed:25542835).
CC Expression is excluded from cell-cell contact regions after the 2-cell
CC stage (PubMed:25542835). {ECO:0000269|PubMed:19192343,
CC ECO:0000269|PubMed:25542835}.
CC -!- PTM: Phosphorylated by PRKCE. {ECO:0000269|PubMed:19542546}.
CC -!- DISEASE: Note=NLRP5 variants have been found in a spectrum of
CC phenotypes characterized by aberrant methylation of multiple imprinted
CC loci, a condition known as multi-locus imprinting defect or multi-locus
CC imprinting disturbance (MLID). MLID-related phenotype spectrum ranges
CC from intrauterine death to different types of imprinting disorders,
CC including Beckwith-Wiedemann syndrome (BWS), Silver-Russell syndrome
CC (SRS), and non-specific developmental and behavioral manifestations.
CC MLID has also been observed in individuals without overt clinical
CC manifestations. Recurrent pregnancy loss has been reported in healthy
CC women carrying NLRP5 variants. {ECO:0000269|PubMed:26323243,
CC ECO:0000269|PubMed:30218098, ECO:0000269|PubMed:31829238}.
CC -!- SIMILARITY: Belongs to the NLRP family. {ECO:0000305}.
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DR EMBL; AY054986; AAL15549.1; -; mRNA.
DR EMBL; AY154460; AAO18156.1; -; mRNA.
DR EMBL; AC011470; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC024580; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS12938.1; -.
DR RefSeq; NP_703148.4; NM_153447.4.
DR AlphaFoldDB; P59047; -.
DR SMR; P59047; -.
DR BioGRID; 125965; 13.
DR CORUM; P59047; -.
DR IntAct; P59047; 8.
DR STRING; 9606.ENSP00000375063; -.
DR iPTMnet; P59047; -.
DR PhosphoSitePlus; P59047; -.
DR BioMuta; NLRP5; -.
DR DMDM; 215274029; -.
DR MassIVE; P59047; -.
DR PaxDb; P59047; -.
DR PeptideAtlas; P59047; -.
DR PRIDE; P59047; -.
DR ProteomicsDB; 57122; -.
DR Antibodypedia; 46495; 81 antibodies from 26 providers.
DR DNASU; 126206; -.
DR Ensembl; ENST00000390649.8; ENSP00000375063.3; ENSG00000171487.16.
DR GeneID; 126206; -.
DR KEGG; hsa:126206; -.
DR MANE-Select; ENST00000390649.8; ENSP00000375063.3; NM_153447.4; NP_703148.4.
DR UCSC; uc002qmj.4; human.
DR CTD; 126206; -.
DR DisGeNET; 126206; -.
DR GeneCards; NLRP5; -.
DR HGNC; HGNC:21269; NLRP5.
DR HPA; ENSG00000171487; Tissue enriched (parathyroid).
DR MIM; 609658; gene.
DR neXtProt; NX_P59047; -.
DR OpenTargets; ENSG00000171487; -.
DR PharmGKB; PA162397970; -.
DR VEuPathDB; HostDB:ENSG00000171487; -.
DR eggNOG; ENOG502SBIG; Eukaryota.
DR GeneTree; ENSGT00940000162898; -.
DR HOGENOM; CLU_002274_2_1_1; -.
DR InParanoid; P59047; -.
DR OMA; HEHYKES; -.
DR OrthoDB; 114368at2759; -.
DR PhylomeDB; P59047; -.
DR PathwayCommons; P59047; -.
DR SignaLink; P59047; -.
DR SIGNOR; P59047; -.
DR BioGRID-ORCS; 126206; 9 hits in 1069 CRISPR screens.
DR ChiTaRS; NLRP5; human.
DR GeneWiki; NLRP5; -.
DR GenomeRNAi; 126206; -.
DR Pharos; P59047; Tbio.
DR PRO; PR:P59047; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; P59047; protein.
DR Bgee; ENSG00000171487; Expressed in secondary oocyte and 11 other tissues.
DR ExpressionAtlas; P59047; baseline and differential.
DR Genevisible; P59047; HS.
DR GO; GO:0005938; C:cell cortex; ISS:UniProtKB.
DR GO; GO:0060473; C:cortical granule; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0106333; C:subcortical maternal complex; IDA:UniProtKB.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0015631; F:tubulin binding; IPI:UniProtKB.
DR GO; GO:0007015; P:actin filament organization; ISS:UniProtKB.
DR GO; GO:0060471; P:cortical granule exocytosis; ISS:UniProtKB.
DR GO; GO:0051656; P:establishment of organelle localization; ISS:UniProtKB.
DR GO; GO:0051293; P:establishment of spindle localization; ISS:UniProtKB.
DR GO; GO:0006887; P:exocytosis; ISS:UniProtKB.
DR GO; GO:0040019; P:positive regulation of embryonic development; ISS:UniProtKB.
DR GO; GO:0051302; P:regulation of cell division; ISS:UniProtKB.
DR GO; GO:0050727; P:regulation of inflammatory response; IBA:GO_Central.
DR GO; GO:0032879; P:regulation of localization; ISS:UniProtKB.
DR Gene3D; 1.10.533.10; -; 1.
DR Gene3D; 3.40.50.300; -; 1.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR004020; DAPIN.
DR InterPro; IPR011029; DEATH-like_dom_sf.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR007111; NACHT_NTPase.
DR InterPro; IPR041267; NLRP_HD2.
DR InterPro; IPR041075; NOD2_WH.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF13516; LRR_6; 5.
DR Pfam; PF05729; NACHT; 1.
DR Pfam; PF17776; NLRC4_HD2; 1.
DR Pfam; PF17779; NOD2_WH; 1.
DR Pfam; PF02758; PYRIN; 1.
DR SMART; SM01289; PYRIN; 1.
DR SUPFAM; SSF47986; SSF47986; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS50824; DAPIN; 1.
DR PROSITE; PS50837; NACHT; 1.
PE 1: Evidence at protein level;
KW ATP-binding; Cytoplasm; Cytoplasmic vesicle; Golgi apparatus;
KW Leucine-rich repeat; Mitochondrion; Nucleotide-binding; Nucleus;
KW Reference proteome; Repeat.
FT CHAIN 1..1200
FT /note="NACHT, LRR and PYD domains-containing protein 5"
FT /id="PRO_0000080890"
FT DOMAIN 57..148
FT /note="Pyrin"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00061"
FT DOMAIN 280..602
FT /note="NACHT"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00136"
FT REPEAT 704..727
FT /note="LRR 1"
FT REPEAT 730..753
FT /note="LRR 2"
FT REPEAT 780..803
FT /note="LRR 3"
FT REPEAT 809..832
FT /note="LRR 4"
FT REPEAT 836..863
FT /note="LRR 5"
FT REPEAT 865..892
FT /note="LRR 6"
FT REPEAT 893..916
FT /note="LRR 7"
FT REPEAT 950..973
FT /note="LRR 8"
FT REPEAT 979..1002
FT /note="LRR 9"
FT REPEAT 1007..1034
FT /note="LRR 10"
FT REPEAT 1036..1059
FT /note="LRR 11"
FT REPEAT 1064..1092
FT /note="LRR 12"
FT REPEAT 1121..1142
FT /note="LRR 13"
FT REGION 142..232
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 170..217
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 286..293
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00136"
FT VARIANT 23
FT /note="V -> D (found in a patient with features of Silver-
FT Russell syndrome and multi-locus imprinting disturbance;
FT unknown pathological significance; dbSNP:rs753824534)"
FT /evidence="ECO:0000269|PubMed:30218098"
FT /id="VAR_084570"
FT VARIANT 52
FT /note="M -> T (found in patients with Beckwith-Wiedemann
FT syndrome and multi-locus imprinting disturbance; when
FT associated in cis with Q-76; unknown pathological
FT significance; dbSNP:rs752189640)"
FT /evidence="ECO:0000269|PubMed:26323243"
FT /id="VAR_084571"
FT VARIANT 76
FT /note="E -> Q (found in patients with Beckwith-Wiedemann
FT syndrome and multi-locus imprinting disturbance; when
FT associated in cis with T-52; unknown pathological
FT significance; dbSNP:rs758399773)"
FT /evidence="ECO:0000269|PubMed:26323243"
FT /id="VAR_084572"
FT VARIANT 98..1200
FT /note="Missing (found in patients with female infertility;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:30877238"
FT /id="VAR_084573"
FT VARIANT 143
FT /note="R -> P (found in patients with female infertility;
FT when associated in cis with C-462; unknown pathological
FT significance; dbSNP:rs746147069)"
FT /evidence="ECO:0000269|PubMed:33020905"
FT /id="VAR_084173"
FT VARIANT 289
FT /note="G -> E (found in patients with female infertility;
FT unknown pathological significance; reduces protein
FT abundance in oocytes and embryos)"
FT /evidence="ECO:0000269|PubMed:30877238"
FT /id="VAR_084574"
FT VARIANT 353..1200
FT /note="Missing (found in an individual with no overt
FT clinical disease and multi-locus imprinting disturbance;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:31829238"
FT /id="VAR_084575"
FT VARIANT 354
FT /note="P -> L (found in patients with female infertility;
FT unknown pathological significance; dbSNP:rs763987829)"
FT /evidence="ECO:0000269|PubMed:32222962"
FT /id="VAR_084576"
FT VARIANT 459
FT /note="M -> I (in dbSNP:rs471979)"
FT /evidence="ECO:0000269|PubMed:11925379,
FT ECO:0000269|PubMed:28501589"
FT /id="VAR_060095"
FT VARIANT 462
FT /note="R -> C (found in patients with female infertility;
FT when associated in cis with P-143; unknown pathological
FT significance; dbSNP:rs199475775)"
FT /evidence="ECO:0000269|PubMed:33020905"
FT /id="VAR_084174"
FT VARIANT 533
FT /note="R -> C (found in a patient with mild cognitive
FT retardation and multi-locus imprinting disturbance; unknown
FT pathological significance; dbSNP:rs754695863)"
FT /evidence="ECO:0000269|PubMed:31829238"
FT /id="VAR_084577"
FT VARIANT 533
FT /note="R -> P (found in patients with female infertility;
FT unknown pathological significance; dbSNP:rs752560793)"
FT /evidence="ECO:0000269|PubMed:33073652"
FT /id="VAR_084578"
FT VARIANT 555
FT /note="G -> V (found in a patient with Beckwith-Wiedemann
FT syndrome and multi-locus imprinting disturbance; unknown
FT pathological significance)"
FT /evidence="ECO:0000269|PubMed:26323243"
FT /id="VAR_084579"
FT VARIANT 584
FT /note="H -> P (in dbSNP:rs34395092)"
FT /id="VAR_060096"
FT VARIANT 635
FT /note="R -> C (found in patients with female infertility;
FT unknown pathological significance; dbSNP:rs373407667)"
FT /evidence="ECO:0000269|PubMed:33020905"
FT /id="VAR_084175"
FT VARIANT 640
FT /note="L -> R (found in patients with female infertility;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:33073652"
FT /id="VAR_084580"
FT VARIANT 694
FT /note="T -> I (found in patients with female infertility;
FT unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:30877238"
FT /id="VAR_084581"
FT VARIANT 761
FT /note="R -> L (in dbSNP:rs17713875)"
FT /evidence="ECO:0000269|PubMed:28501589"
FT /id="VAR_060097"
FT VARIANT 774
FT /note="C -> R (found in a patient with Silver-Russell
FT syndrome and multi-locus imprinting disturbance; unknown
FT pathological significance; dbSNP:rs370837790)"
FT /evidence="ECO:0000269|PubMed:26323243"
FT /id="VAR_084582"
FT VARIANT 785..1200
FT /note="Missing (found in a patient with Beckwith-Wiedemann
FT syndrome and multi-locus imprinting disturbance; unknown
FT pathological significance; dbSNP:rs200446614)"
FT /evidence="ECO:0000269|PubMed:26323243"
FT /id="VAR_084583"
FT VARIANT 893
FT /note="S -> T (found in patients with female infertility;
FT unknown pathological significance; dbSNP:rs769920247)"
FT /evidence="ECO:0000269|PubMed:33020905"
FT /id="VAR_084176"
FT VARIANT 912
FT /note="M -> T (in dbSNP:rs16986899)"
FT /evidence="ECO:0000269|PubMed:11925379"
FT /id="VAR_060098"
FT VARIANT 1097
FT /note="A -> T (in dbSNP:rs3103057)"
FT /evidence="ECO:0000269|PubMed:11925379,
FT ECO:0000269|PubMed:12563287"
FT /id="VAR_060099"
FT VARIANT 1107
FT /note="T -> I (found in patients with female infertility;
FT unknown pathological significance; reduces protein
FT abundance in oocytes and embryos; dbSNP:rs1381057964)"
FT /evidence="ECO:0000269|PubMed:30877238"
FT /id="VAR_084584"
FT VARIANT 1108
FT /note="S -> C (in dbSNP:rs12462795)"
FT /id="VAR_060100"
FT VARIANT 1181
FT /note="V -> I (in dbSNP:rs10409555)"
FT /id="VAR_060101"
FT VARIANT 1195
FT /note="R -> Q (in dbSNP:rs36118060)"
FT /id="VAR_060102"
FT CONFLICT 506
FT /note="V -> A (in Ref. 1; AAL15549)"
FT /evidence="ECO:0000305"
FT CONFLICT 999
FT /note="F -> S (in Ref. 1; AAL15549)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1200 AA; 134342 MW; A1C6DB1003A2A1BC CRC64;
MKVAGGLELG AAALLSASPR ALVTLSTGPT CSILPKNPLF PQNLSSQPCI KMEGDKSLTF
SSYGLQWCLY ELDKEEFQTF KELLKKKSSE STTCSIPQFE IENANVECLA LLLHEYYGAS
LAWATSISIF ENMNLRTLSE KARDDMKRHS PEDPEATMTD QGPSKEKVPG ISQAVQQDSA
TAAETKEQEI SQAMEQEGAT AAETEEQEIS QAMEQEGATA AETEEQGHGG DTWDYKSHVM
TKFAEEEDVR RSFENTAADW PEMQTLAGAF DSDRWGFRPR TVVLHGKSGI GKSALARRIV
LCWAQGGLYQ GMFSYVFFLP VREMQRKKES SVTEFISREW PDSQAPVTEI MSRPERLLFI
IDGFDDLGSV LNNDTKLCKD WAEKQPPFTL IRSLLRKVLL PESFLIVTVR DVGTEKLKSE
VVSPRYLLVR GISGEQRIHL LLERGIGEHQ KTQGLRAIMN NRELLDQCQV PAVGSLICVA
LQLQDVVGES VAPFNQTLTG LHAAFVFHQL TPRGVVRRCL NLEERVVLKR FCRMAVEGVW
NRKSVFDGDD LMVQGLGESE LRALFHMNIL LPDSHCEEYY TFFHLSLQDF CAALYYVLEG
LEIEPALCPL YVEKTKRSME LKQAGFHIHS LWMKRFLFGL VSEDVRRPLE VLLGCPVPLG
VKQKLLHWVS LLGQQPNATT PGDTLDAFHC LFETQDKEFV RLALNSFQEV WLPINQNLDL
IASSFCLQHC PYLRKIRVDV KGIFPRDESA EACPVVPLWM RDKTLIEEQW EDFCSMLGTH
PHLRQLDLGS SILTERAMKT LCAKLRHPTC KIQTLMFRNA QITPGVQHLW RIVMANRNLR
SLNLGGTHLK EEDVRMACEA LKHPKCLLES LRLDCCGLTH ACYLKISQIL TTSPSLKSLS
LAGNKVTDQG VMPLSDALRV SQCALQKLIL EDCGITATGC QSLASALVSN RSLTHLCLSN
NSLGNEGVNL LCRSMRLPHC SLQRLMLNQC HLDTAGCGFL ALALMGNSWL THLSLSMNPV
EDNGVKLLCE VMREPSCHLQ DLELVKCHLT AACCESLSCV ISRSRHLKSL DLTDNALGDG
GVAALCEGLK QKNSVLARLG LKACGLTSDC CEALSLALSC NRHLTSLNLV QNNFSPKGMM
KLCSAFACPT SNLQIIGLWK WQYPVQIRKL LEEVQLLKPR VVIDGSWHSF DEDDRYWWKN
