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HPMR

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since 01/2001:
176557

nucleotide binding oligomerization domain containing 1 OKDB#: 5668
 Symbols: NOD1 Species: human
 Synonyms: CARD4, NLRC1, CLR7.1  Locus: 7p14.3 in Homo sapiens
HPMR


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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link to BioGPS
General Comment Important for pyroptosis.

NCBI Summary: This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-recognition receptor (PRR) that binds bacterial peptidoglycans and initiates inflammation. This protein has also been implicated in the immune response to viral and parasitic infection. Major structural features of this protein include an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. Mutations in this gene are associated with asthma, inflammatory bowel disease, Behcet disease and sarcoidosis in human patients. [provided by RefSeq, Aug 2017]
General function Receptor
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by LH
Comment
Ovarian localization Granulosa
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
KEGG Pathways
Recent Publications
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created: Nov. 27, 2019, 4:08 p.m. by: system   email:
home page:
last update: Sept. 28, 2020, 1:40 p.m. by: hsueh    email:



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