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Aliases for NFAM1 Gene

Aliases for NFAM1 Gene

  • NFAT Activating Protein With ITAM Motif 1 2 3 5
  • Calcineurin/NFAT-Activating ITAM-Containing Protein 3 4
  • CNAIP 3 4
  • NFAT-Activating Protein With ITAM Motif 1 4
  • NFAT Activation Molecule 1 3

External Ids for NFAM1 Gene

Previous GeneCards Identifiers for NFAM1 Gene

  • GC22M039378
  • GC22M041007
  • GC22M041009
  • GC22M041100
  • GC22M042776
  • GC22M025742

Summaries for NFAM1 Gene

Entrez Gene Summary for NFAM1 Gene

  • 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 regulate the signaling and development of B-cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for NFAM1 Gene

NFAM1 (NFAT Activating Protein With ITAM Motif 1) is a Protein Coding gene. Among its related pathways are Innate Immune System. GO annotations related to this gene include transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot for NFAM1 Gene

  • May function in immune system as a receptor which activates via the calcineurin/NFAT-signaling pathway the downstream cytokine gene promoters. Activates the transcription of IL-13 and TNF-alpha promoters. May be involved in the regulation of B-cell, but not T-cell, development. Overexpression activates downstream effectors without ligand binding or antibody cross-linking.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFAM1 Gene

Genomics for NFAM1 Gene

Regulatory Elements for NFAM1 Gene

Enhancers for NFAM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G042436 1.2 FANTOM5 ENCODE dbSUPER 28.2 +0.5 509 0.8 HDGF GATAD2B ZIC2 ZNF121 SMARCA4 POLR2A IKZF1 PRDM1 SPI1 NFAM1 TCF20 ARFGAP3 POLDIP3 NAGA GC22P042420
GH22G042396 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19 +39.9 39881 2.2 HDAC1 TBL1XR1 RAD21 ZBTB40 RCOR1 IKZF2 CREM EGR2 GATAD2B TBX21 NFAM1 TCF20 CYP2D6 CSDC2 PMM1 ARFGAP3 GC22M042383 GC22M042398
GH22G042374 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.2 +61.1 61142 2.9 ELF3 HDGF CBX3 KLF17 DMAP1 FEZF1 RAD21 ZNF48 ZNF121 SCRT2 NFAM1 LINC01315 ARFGAP3 CYP2D7 CYP2D6 ENSG00000232710 SMDT1 NDUFA6 CSDC2 NAGA
GH22G042928 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -498.1 -498066 12.6 HDGF PKNOX1 FOXA2 ARNT MLX WRNIP1 ARID4B SIN3A YBX1 ZNF143 ARFGAP3 RRP7BP PACSIN2 ENSG00000270083 NFAM1 ENSG00000261251 RN7SKP80 OGFRP1 POLDIP3 GC22P042938
GH22G042891 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.9 -457.1 -457084 4.9 PKNOX1 NFIB ZSCAN4 FEZF1 RAD21 ZBTB40 YY1 ZNF335 GLIS2 SCRT2 ARFGAP3 PACSIN2 NFAM1 OGFRP1 GC22M042889 GC22P042938
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NFAM1 on UCSC Golden Path with GeneCards custom track

Promoters for NFAM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146759 -717 401 HDGF PKNOX1 ATF1 SIN3A ZNF2 GLIS2 ZNF143 ZNF207 ZNF263 REST

Genomic Location for NFAM1 Gene

Chromosome:
22
Start:
42,380,407 bp from pter
End:
42,437,083 bp from pter
Size:
56,677 bases
Orientation:
Minus strand

Genomic View for NFAM1 Gene

Genes around NFAM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFAM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFAM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFAM1 Gene

Proteins for NFAM1 Gene

  • Protein details for NFAM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NET5-NFAM1_HUMAN
    Recommended name:
    NFAT activation molecule 1
    Protein Accession:
    Q8NET5
    Secondary Accessions:
    • B0QYD0
    • Q20WL2
    • Q5JZ96
    • Q8IUY8
    • Q8TEM8

    Protein attributes for NFAM1 Gene

    Size:
    270 amino acids
    Molecular mass:
    29686 Da
    Quaternary structure:
    • No direct interaction with the B-cell antigen receptor (BCR). Interacts with SYK; probably involved in BCR signaling. Interacts with ZAP70 (By similarity).

neXtProt entry for NFAM1 Gene

Post-translational modifications for NFAM1 Gene

Other Protein References for NFAM1 Gene

No data available for DME Specific Peptides for NFAM1 Gene

Domains & Families for NFAM1 Gene

Suggested Antigen Peptide Sequences for NFAM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NET5

UniProtKB/Swiss-Prot:

NFAM1_HUMAN :
  • The ITAM domain displays no close similarity to any existing ITAMs, except for four conserved positions. The phosphorylated ITAM domain binds ZAP70 and SYK.
Domain:
  • The ITAM domain displays no close similarity to any existing ITAMs, except for four conserved positions. The phosphorylated ITAM domain binds ZAP70 and SYK.
genes like me logo Genes that share domains with NFAM1: view

No data available for Gene Families for NFAM1 Gene

Function for NFAM1 Gene

Molecular function for NFAM1 Gene

UniProtKB/Swiss-Prot Function:
May function in immune system as a receptor which activates via the calcineurin/NFAT-signaling pathway the downstream cytokine gene promoters. Activates the transcription of IL-13 and TNF-alpha promoters. May be involved in the regulation of B-cell, but not T-cell, development. Overexpression activates downstream effectors without ligand binding or antibody cross-linking.

Gene Ontology (GO) - Molecular Function for NFAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IDA,IEA 12615919
genes like me logo Genes that share ontologies with NFAM1: view
genes like me logo Genes that share phenotypes with NFAM1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NFAM1 Gene

Localization for NFAM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFAM1 Gene

Cell membrane; Single-pass type I membrane protein. Note=Partially recruited to lipid rafts upon BCR stimulation. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFAM1 gene
Compartment Confidence
plasma membrane 5
lysosome 5
mitochondrion 2
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for NFAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA,IEA 12615919
GO:0035577 azurophil granule membrane TAS --
genes like me logo Genes that share ontologies with NFAM1: view

Pathways & Interactions for NFAM1 Gene

genes like me logo Genes that share pathways with NFAM1: view

Pathways by source for NFAM1 Gene

1 GeneTex pathway for NFAM1 Gene
3 Reactome pathways for NFAM1 Gene

Gene Ontology (GO) - Biological Process for NFAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001819 positive regulation of cytokine production NAS 12615919
GO:0006954 inflammatory response NAS 12615919
GO:0007165 signal transduction IEA,IDA 12615919
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0030183 B cell differentiation ISS 15143214
genes like me logo Genes that share ontologies with NFAM1: view

No data available for SIGNOR curated interactions for NFAM1 Gene

Drugs & Compounds for NFAM1 Gene

No Compound Related Data Available

Transcripts for NFAM1 Gene

mRNA/cDNA for NFAM1 Gene

Unigene Clusters for NFAM1 Gene

NFAT activating protein with ITAM motif 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NFAM1 Gene

No ASD Table

Relevant External Links for NFAM1 Gene

GeneLoc Exon Structure for
NFAM1
ECgene alternative splicing isoforms for
NFAM1

Expression for NFAM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NFAM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NFAM1 Gene

This gene is overexpressed in Whole Blood (x43.1).

Protein differential expression in normal tissues from HIPED for NFAM1 Gene

This gene is overexpressed in Monocytes (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NFAM1 Gene



Protein tissue co-expression partners for NFAM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NFAM1 Gene:

NFAM1

SOURCE GeneReport for Unigene cluster for NFAM1 Gene:

Hs.436677

mRNA Expression by UniProt/SwissProt for NFAM1 Gene:

Q8NET5-NFAM1_HUMAN
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.

Evidence on tissue expression from TISSUES for NFAM1 Gene

  • Blood(4.3)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with NFAM1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NFAM1 Gene

Orthologs for NFAM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NFAM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFAM1 34 35
  • 99.01 (n)
cow
(Bos Taurus)
Mammalia NFAM1 34 35
  • 76.12 (n)
dog
(Canis familiaris)
Mammalia NFAM1 34 35
  • 72.36 (n)
rat
(Rattus norvegicus)
Mammalia Nfam1 34
  • 66.96 (n)
mouse
(Mus musculus)
Mammalia Nfam1 34 16 35
  • 63.74 (n)
oppossum
(Monodelphis domestica)
Mammalia NFAM1 35
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFAM1 35
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFAM1 34 35
  • 49.11 (n)
lizard
(Anolis carolinensis)
Reptilia NFAM1 35
  • 27 (a)
OneToOne
Species where no ortholog for NFAM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NFAM1 Gene

ENSEMBL:
Gene Tree for NFAM1 (if available)
TreeFam:
Gene Tree for NFAM1 (if available)

Paralogs for NFAM1 Gene

No data available for Paralogs for NFAM1 Gene

Variants for NFAM1 Gene

Sequence variations from dbSNP and Humsavar for NFAM1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000021472 -- 42,384,661(+) CCTCT(G/T)GCCCA utr-variant-3-prime
rs1000023655 -- 42,419,688(+) TGTTC(C/T)GGCTG intron-variant
rs1000079611 -- 42,420,748(+) CTGTG(C/T)GACAG intron-variant
rs1000136229 -- 42,385,483(+) CTGCC(A/T)TCTGC intron-variant
rs1000168358 -- 42,408,431(+) GGGCT(A/G)TTGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NFAM1 Gene

Variant ID Type Subtype PubMed ID
dgv8116n54 CNV gain 21841781
esv2724279 CNV deletion 23290073
esv2724280 CNV deletion 23290073
esv2724281 CNV deletion 23290073
esv2724282 CNV deletion 23290073
esv2758839 CNV gain+loss 17122850
esv3575487 CNV gain 25503493
esv3647819 CNV gain 21293372
esv3647820 CNV gain 21293372
esv3647821 CNV loss 21293372
esv3647822 CNV loss 21293372
esv3893486 CNV gain 25118596
nsv1064178 CNV gain 25217958
nsv1066453 CNV loss 25217958
nsv428391 CNV gain 18775914
nsv476139 CNV novel sequence insertion 20440878
nsv589065 CNV gain 21841781
nsv589070 CNV loss 21841781
nsv817998 CNV gain 17921354
nsv829244 CNV gain 20364138
nsv834211 CNV loss 17160897
nsv9909 CNV loss 18304495

Variation tolerance for NFAM1 Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.84; 48.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NFAM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFAM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFAM1 Gene

Disorders for NFAM1 Gene

Relevant External Links for NFAM1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFAM1

No disorders were found for NFAM1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NFAM1 Gene

Publications for NFAM1 Gene

  1. Calcineurin/nuclear factors of activated T cells (NFAT)-activating and immunoreceptor tyrosine-based activation motif (ITAM)-containing protein (CNAIP), a novel ITAM-containing protein that activates the calcineurin/NFAT-signaling pathway. (PMID: 12615919) Yang J. … Yao Z. (J. Biol. Chem. 2003) 2 3 4 22 64
  2. NFAM1, an immunoreceptor tyrosine-based activation motif-bearing molecule that regulates B cell development and signaling. (PMID: 15143214) Ohtsuka M. … Saito T. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PMID: 12693554) Jikuya H. … Ohara O. (DNA Res. 2003) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for NFAM1 Gene

Sources for NFAM1 Gene

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