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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. Gene Ontology (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.

Additional gene information for NFAM1 Gene

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

GeneHancer (GH) Regulatory Elements for NFAM1 Gene

Promoters and enhancers for NFAM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J042432 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 650.7 +4.6 4581 1 CTCF ZNF687 POLR2A EBF1 REST MEF2B DPF2 EZH2 NFAM1 GC22P042420
GH22J042437 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 650.7 -0.8 -824 1.7 HDGF PKNOX1 ATF1 SMAD1 SIN3A ZNF2 IRF4 GLIS2 ARID2 ZNF207 LOC101927344 NFAM1 NDUFA6 TCF20
GH22J042436 Promoter/Enhancer 1.5 EPDnew FANTOM5 ENCODE dbSUPER 678.2 +0.5 508 0.8 HDGF POLR2A IKZF1 ZNF143 ZFP36 ZIC2 SPI1 GABPA NFAM1 LOC101927344 TCF20 ARFGAP3 POLDIP3 NAGA GC22P042420
GH22J042396 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 19 +39.9 39881 2.2 HDAC1 RAD21 ATF7 IKZF2 RUNX3 CREM EGR2 SMARCA5 ELF1 SP1 NFAM1 TCF20 CYP2D6 CSDC2 PMM1 ARFGAP3 GC22M043013 GC22M042878
GH22J042928 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -498.1 -498066 12.6 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A IRF4 ZNF207 ZNF143 ARFGAP3 PACSIN2 NFAM1 OGFRP1 POLDIP3 GC22P042938 GC22M042916 GC22M043043
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFAM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NFAM1 gene promoter:
  • CUTL1
  • Zic1
  • GATA-2
  • POU2F1a
  • POU2F1
  • NF-kappaB
  • NF-kappaB1
  • RelA
  • TGIF
  • GATA-1

Genomic Locations for NFAM1 Gene

Genomic Locations for NFAM1 Gene
chr22:42,380,407-42,437,083
(GRCh38/hg38)
Size:
56,677 bases
Orientation:
Minus strand
chr22:42,776,413-42,828,401
(GRCh37/hg19)
Size:
51,989 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

Gene Families for NFAM1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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

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.

Phenotypes From GWAS Catalog for NFAM1 Gene

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

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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 12615919
GO:0035577 azurophil granule membrane TAS --
genes like me logo Genes that share ontologies with NFAM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NFAM1 Gene

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 IDA,IEA 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:

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 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

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 33
  • 99.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFAM1 34 33
  • 76.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NFAM1 34 33
  • 72.36 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfam1 33
  • 66.96 (n)
mouse
(Mus musculus)
Mammalia Nfam1 16 34 33
  • 63.74 (n)
oppossum
(Monodelphis domestica)
Mammalia NFAM1 34
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFAM1 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFAM1 34 33
  • 49.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFAM1 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NFAM1: view image

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 Variation AA Info Type
rs1000021472 -- 42,384,661(-) G/T 3_prime_UTR_variant
rs1000023655 -- 42,419,688(-) C/T intron_variant
rs1000079611 -- 42,420,748(-) T/C intron_variant
rs1000136229 -- 42,385,483(-) T/A intron_variant
rs1000168358 -- 42,408,431(-) G/A 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)

Additional Variant Information for NFAM1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NFAM1 Gene

Additional Disease Information for 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 (The Journal of biological chemistry 2003) 2 3 4 22 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. NFAM1, an immunoreceptor tyrosine-based activation motif-bearing molecule that regulates B cell development and signaling. (PMID: 15143214) Ohtsuka M … Saito T (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 58
  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 research : an international journal for rapid publication of reports on genes and genomes 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for NFAM1 Gene

Sources for NFAM1 Gene

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