• Gene id: 338323

Gene Summary

• Gene Symbol: NLRP14   Gene   UCSC   Ensembl
• Aliases: CLR11.2, GC-LRR, NALP14, NOD5, PAN8
• Gene name: NLR family pyrin domain containing 14
• Alternate names: NACHT, LRR and PYD domains-containing protein 14, NACHT, LRR and PYD containing protein 14, NACHT, leucine rich repeat and PYD containing 14, nucleotide-binding oligomerization domain protein 5, nucleotide-binding oligomerization domain, leucine rich repe,
• Gene location: 11p15.4 (7020445: 7089024)     Exons: 13     NC_000011.10
• Gene summary(Entrez): 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).
• OMIM: 609665

Protein Summary

• Protein general information: Q86W24  
  • Name: NACHT, LRR and PYD domains containing protein 14 (Nucleotide binding oligomerization domain protein 5)
  • Length: 1093  
  • Mass: 124,733
• Sequence:

  MADSSSSSFFPDFGLLLYLEELNKEELNTFKLFLKETMEPEHGLTPWNEVKKARREDLANLMKKYYPGEKAWSVS
  LKIFGKMNLKDLCERAKEEINWSAQTIGPDDAKAGETQEDQEAVLGDGTEYRNRIKEKFCITWDKKSLAGKPEDF
  HHGIAEKDRKLLEHLFDVDVKTGAQPQIVVLQGAAGVGKTTLVRKAMLDWAEGSLYQQRFKYVFYLNGREINQLK
  ERSFAQLISKDWPSTEGPIEEIMYQPSSLLFIIDSFDELNFAFEEPEFALCEDWTQEHPVSFLMSSLLRKVMLPE
  ASLLVTTRLTTSKRLKQLLKNHHYVELLGMSEDAREEYIYQFFEDKRWAMKVFSSLKSNEMLFSMCQVPLVCWAA
  CTCLKQQMEKGGDVTLTCQTTTALFTCYISSLFTPVDGGSPSLPNQAQLRRLCQVAAKGIWTMTYVFYRENLRRL
  GLTQSDVSSFMDSNIIQKDAEYENCYVFTHLHVQEFFAAMFYMLKGSWEAGNPSCQPFEDLKSLLQSTSYKDPHL
  TQMKCFLFGLLNEDRVKQLERTFNCKMSLKIKSKLLQCMEVLGNSDYSPSQLGFLELFHCLYETQDKAFISQAMR
  CFPKVAINICEKIHLLVSSFCLKHCRCLRTIRLSVTVVFEKKILKTSLPTNTWDGDRITHCWQDLCSVLHTNEHL
  RELDLYHSNLDKSAMNILHHELRHPNCKLQKLLLKFITFPDGCQDISTSLIHNKNLMHLDLKGSDIGDNGVKSLC
  EALKHPECKLQTLRLESCNLTVFCCLNISNALIRSQSLIFLNLSTNNLLDDGVQLLCEALRHPKCYLERLSLESC
  GLTEAGCEYLSLALISNKRLTHLCLADNVLGDGGVKLMSDALQHAQCTLKSLVLRRCHFTSLSSEYLSTSLLHNK
  SLTHLDLGSNWLQDNGVKLLCDVFRHPSCNLQDLELMGCVLTNACCLDLASVILNNPNLRSLDLGNNDLQDDGVK
  ILCDALRYPNCNIQRLGLEYCGLTSLCCQDLSSALICNKRLIKMNLTQNTLGYEGIVKLYKVLKSPKCKLQVLGL
  CKEAFDEEAQKLLEAVGVSNPHLIIKPDCNYHNEEDVSWWWCF

• Structural information:
  • Protein Domains: Pyrin. (1-97)
    NACHT. (177-499)
  • Interpro: IPR004020  IPR011029  IPR001611  IPR032675  IPR007111   IPR027417  
  • Prosite: PS50824 PS50837
  • PDB: 4N1J 4N1K 4N1L
  • PDBsum: 4N1J 4N1K 4N1L
  • STRING: ENSP00000299481
• Other Databases: GeneCards:  NLRP14  Malacards:  NLRP14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005524	ATP binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IMP	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	IMP	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007283	spermatogenesis	IMP	biological process

Diseases

Associated diseases	References
Cancer	GAD: 19074885
Cancer (leukemia)	GAD: 19074885
Crohn's disease	GAD: 20403135
Spermatogenesis defects	MIK: 16931801
Spermatogenic defects	MIK: 16931801
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16931801	Spermatogenic failure			315 (157 men with azoospermia or severe oligozoospermia by direct sequencing, 158 normospermic men served as controls)	Male infertility	NALP14
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)