Property Summary

NCBI Gene PubMed Count 11
Grant Count 2
Funding $26,999
PubMed Score 20.80
PubTator Score 15.04

Knowledge Summary

Patent

No data available

Synonym

Accession P59047 A8MTY4 Q86W29
Symbols MATER
NALP5
PAN11
PYPAF8
CLR19.8

Gene

 Grant Application (2)

 GO Function (1)

Gene RIF (9)

PMID Text
26323243 NLRP5 mutation is associated with multilocus imprinting disorders and reproductive wastage.
20734064 Observational study of gene-disease association. (HuGE Navigator)
20403135 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19542546 MATER protein interacts with tPKCepsilon in cumulus cells under physiological conditions.
19192343 The nuclear, nucleolar and mitochondrial localization hints at a possible role in RNA processing and the metabolic activity of the cell.
19074885 Observational study of gene-disease association. (HuGE Navigator)
18322283 NALP5 appears to be a tissue-specific autoantigen involved in hypoparathyroidism in patients with APS-1. Autoantibodies against NALP5 appear to be highly specific and may be diagnostic for this prominent component of APS-1
11925379 characterization of the MATER gene and its protein; this provides a basis for investigating their clinical implications in autoimmune premature ovarian failure and infertility in women

AA Sequence

MKVAGGLELGAAALLSASPRALVTLSTGPTCSILPKNPLFPQNLSSQPCIKMEGDKSLTFSSYGLQWCLY      1 - 70
ELDKEEFQTFKELLKKKSSESTTCSIPQFEIENANVECLALLLHEYYGASLAWATSISIFENMNLRTLSE     71 - 140
KARDDMKRHSPEDPEATMTDQGPSKEKVPGISQAVQQDSATAAETKEQEISQAMEQEGATAAETEEQEIS    141 - 210
QAMEQEGATAAETEEQGHGGDTWDYKSHVMTKFAEEEDVRRSFENTAADWPEMQTLAGAFDSDRWGFRPR    211 - 280
TVVLHGKSGIGKSALARRIVLCWAQGGLYQGMFSYVFFLPVREMQRKKESSVTEFISREWPDSQAPVTEI    281 - 350
MSRPERLLFIIDGFDDLGSVLNNDTKLCKDWAEKQPPFTLIRSLLRKVLLPESFLIVTVRDVGTEKLKSE    351 - 420
VVSPRYLLVRGISGEQRIHLLLERGIGEHQKTQGLRAIMNNRELLDQCQVPAVGSLICVALQLQDVVGES    421 - 490
VAPFNQTLTGLHAAFVFHQLTPRGVVRRCLNLEERVVLKRFCRMAVEGVWNRKSVFDGDDLMVQGLGESE    491 - 560
LRALFHMNILLPDSHCEEYYTFFHLSLQDFCAALYYVLEGLEIEPALCPLYVEKTKRSMELKQAGFHIHS    561 - 630
LWMKRFLFGLVSEDVRRPLEVLLGCPVPLGVKQKLLHWVSLLGQQPNATTPGDTLDAFHCLFETQDKEFV    631 - 700
RLALNSFQEVWLPINQNLDLIASSFCLQHCPYLRKIRVDVKGIFPRDESAEACPVVPLWMRDKTLIEEQW    701 - 770
EDFCSMLGTHPHLRQLDLGSSILTERAMKTLCAKLRHPTCKIQTLMFRNAQITPGVQHLWRIVMANRNLR    771 - 840
SLNLGGTHLKEEDVRMACEALKHPKCLLESLRLDCCGLTHACYLKISQILTTSPSLKSLSLAGNKVTDQG    841 - 910
VMPLSDALRVSQCALQKLILEDCGITATGCQSLASALVSNRSLTHLCLSNNSLGNEGVNLLCRSMRLPHC    911 - 980
SLQRLMLNQCHLDTAGCGFLALALMGNSWLTHLSLSMNPVEDNGVKLLCEVMREPSCHLQDLELVKCHLT    981 - 1050
AACCESLSCVISRSRHLKSLDLTDNALGDGGVAALCEGLKQKNSVLARLGLKACGLTSDCCEALSLALSC   1051 - 1120
NRHLTSLNLVQNNFSPKGMMKLCSAFACPTSNLQIIGLWKWQYPVQIRKLLEEVQLLKPRVVIDGSWHSF   1121 - 1190
DEDDRYWWKN                                                               1191 - 1200
//

Text Mined References (12)

PMID Year Title
26323243 2015 Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
22166940 2012 A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20403135 2010 The genetics of NOD-like receptors in Crohn's disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19542546 2009 MATER protein as substrate of PKCepsilon in human cumulus cells.
19192343 2009 Human MATER localization in specific cell domains of oocytes and follicular cells.
19074885 2008 Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.
18322283 2008 Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.
15057824 2004 The DNA sequence and biology of human chromosome 19.
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