NLRP14 (NLR family pyrin domain containing 14)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 338323
Gene name NLR family pyrin domain containing 14
Gene symbol NLRP14
Synonyms (NCBI Gene)
CLR11.2GC-LRRNALP14NOD5PAN8
Chromosome 11
Chromosome location 11p15.4
Summary The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD).
miRNA miRNA information provided by mirtarbase database.
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT018844 hsa-miR-335-5p Microarray 18185580
MIRT1187258 hsa-miR-3200-5p CLIP-seq
MIRT1187259 hsa-miR-3660 CLIP-seq
MIRT1187260 hsa-miR-3919 CLIP-seq
MIRT1187261 hsa-miR-4526 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0007283 Process Spermatogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609665 22939 ENSG00000158077
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86W24
Protein name NACHT, LRR and PYD domains-containing protein 14 (Nucleotide-binding oligomerization domain protein 5)
Protein function May be involved in inflammation and spermatogenesis.
PDB 4N1J , 4N1K , 4N1L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 14 → 89 PAAD/DAPIN/Pyrin domain Domain
PF05729 NACHT 177 → 346 NACHT domain Domain
PF17779 NOD2_WH 422 → 478 NOD2 winged helix domain Domain
PF17776 NLRC4_HD2 480 → 597 NLRC4 helical domain HD2 Domain
PF13516 LRR_6 727 → 750 Leucine Rich repeat Repeat
PF13516 LRR_6 841 → 864 Leucine Rich repeat Repeat
PF13516 LRR_6 898 → 921 Leucine Rich repeat Repeat
PF13516 LRR_6 955 → 978 Leucine Rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:16931801}.
Sequence 
MADSSSSSFFPDFGLLLYLEELNKEELNTFKLFLKETMEPEHGLTPWNEVKKARREDLAN
LMKKYYPGEKAWSVSLKIFGKMNLKDLCERAKEEINWSAQTIGPDDAKAGETQEDQEAVL
GDGTEYRNRIKEKFCITWDKKSLAGKPEDFHHGIAEKDRKLLEHLFDVDVKTGAQPQIVV
LQGAAGVGKTTLVRKAMLDWAEGSLYQQRFKYVFYLNGREINQLKERSFAQLISKDWPST
EGPIEEIMYQPSSLLFIIDSFDELNFAFEEPEFALCEDWTQEHPVSFLMSSLLRKVMLPE
ASLLVTTRLTTSKRLKQLLKNHHYVELLGMSEDAREEYIYQFFEDKRWAMKVFSSLKSNE
MLFSMCQVPLVCWAACTCLKQQMEKGGDVTLTCQTTTALFTCYISSLFTPVDGGSPSLPN
QAQLRRLCQVAAKGIWTMTYVFYRENLRRLGLTQSDVSSFMDSNIIQKDAEYENCYVFTH
LHVQEFFAAMFYMLKGSWEAGNPSCQPFEDLKSLLQSTSYKDPHLTQMKCFLFGLLNEDR
VKQLERTFNCKMSLKIKSKLLQCMEVLGNSDYSPSQLGFLELFHCLYETQDKAFISQAMR
CFPKVAINICEKIHLLVSSFCLKHCRCLRTIRLSVTVVFEKKILKTSLPTNTWDGDRITH
CWQDLCSVLHTNEHLRELDLYHSNLDKSAMNILHHELRHPNCKLQKLLLKFITFPDGCQD
ISTSLIHNKNLMHLDLKGSDIGDNGVKSLCEALKHPECKLQTLRLESCNLTVFCCLNISN
ALIRSQSLIFLNLSTNNLLDDGVQLLCEALRHPKCYLERLSLESCGLTEAGCEYLSLALI
SNKRLTHLCLADNVLGDGGVKLMSDALQHAQCTLKSLVLRRCHFTSLSSEYLSTSLLHNK
SLTHLDLGSNWLQDNGVKLLCDVFRHPSCNLQDLELMGCVLTNACCLDLASVILNNPNLR
SLDLGNNDLQDDGVKILCDALRYPNCNIQRLGLEYCGLTSLCCQDLSSALICNKRLIKMN
LTQNTLGYEGIVKLYKVLKSPKCKLQVLGLCKEAFDEEAQKLLEAVGVSNPHLIIKPDCN
YHNEEDVSWWWCF
Sequence length 1093
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
31
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs139392987 RCV005938845
NLRP14-related disorder Benign; Likely benign; Uncertain significance rs17280682, rs1552726, rs12801277, rs16921697, rs61063081, rs10839708, rs7123944, rs76274604, rs147389856, rs115887838, rs139392987, rs115776642, rs143266232, rs117823353, rs117583918
View all (13 more)		 RCV003980744
RCV003980756
RCV003966258
RCV003980840
RCV003984024
RCV003975929
RCV003976007
RCV003977632
RCV003894733
RCV003919577
RCV003929635
RCV003929706
RCV003979585
RCV003979786
RCV003979844
RCV003982387
RCV003963868
RCV003954953
RCV003919496
RCV003939518
RCV003939644
RCV003931389
RCV003944385
RCV003964370
RCV003957413
RCV003971513
RCV003915924
RCV003906040
Spermatogenic Failure Benign rs76274604, rs199735773 RCV001258284
RCV001258265
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Prostatic Neoplasms Associate 33197890
Stomach Neoplasms Associate 32034058