• Gene id: 150372

Gene Summary

• Gene Symbol: NFAM1   Gene   UCSC   Ensembl
• Aliases: CNAIP
• Gene name: NFAT activating protein with ITAM motif 1
• Alternate names: NFAT activation molecule 1, calcineurin/NFAT-activating ITAM-containing protein,
• Gene location: 22q13.2 (42437985: 42380406)     Exons: 9     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine-based activation motif (ITAM) and is thought to regula
• OMIM: 609775

Protein Summary

• Protein general information: Q8NET5  
  • Name: NFAT activation molecule 1 (Calcineurin/NFAT activating ITAM containing protein) (NFAT activating protein with ITAM motif 1)
  • Length: 270  
  • Mass: 29686
  • Tissue specificity: Highly expressed in neutrophils, primary monocytes, mast cells, monocytic cell lines and lymphocytes. Also expressed in spleen B and T-cells, and lung. Expressed at low level in non-immune tissue. {ECO
• Sequence:

  MENQPVRWRALPGLPRPPGLPAAPWLLLGVLLLPGTLRLAGGQSVTHTGLPIMASLANTAISFSCRITYPYTPQF
  KVFTVSYFHEDLQGQRSPKKPTNCHPGLGTENQSHTLDCQVTLVLPGASATGTYYCSVHWPHSTVRGSGTFILVR
  DAGYREPPQSPQKLLLFGFTGLLSVLSVVGTALLLWNKKRMRGPGKDPTRKCPDPRSASSPKQHPSESVYTALQR
  RETEVYACIENEDGSSPTAKQSPLSQERPHRFEDDGELNLVYENL

• Structural information:
  • Protein Domains: (50..15-)
    (/note="Ig-like-V-type)
    (209..23-)
    (/note="ITAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00379"-)
  • Interpro: IPR033549  IPR003110  
  • Prosite: PS51055
  • STRING: ENSP00000333680
• Other Databases: GeneCards:  NFAM1  Malacards:  NFAM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IDA	biological process
GO:0004888	transmembrane signaling receptor activity	IDA	molecular function
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0006954	inflammatory response	NAS	biological process
GO:0001819	positive regulation of cytokine production	NAS	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:0030183	B cell differentiation	ISS	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0050861	positive regulation of B cell receptor signaling pathway	ISS	biological process
GO:0001819	positive regulation of cytokine production	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045577	regulation of B cell differentiation	IEA	biological process
GO:0050861	positive regulation of B cell receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881