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Aliases for NFAM1 Gene

Aliases for NFAM1 Gene

  • NFAT Activating Protein With ITAM Motif 1 2 3
  • Calcineurin/NFAT-Activating ITAM-Containing Protein 3 4
  • NFAT-Activating Protein With ITAM Motif 1 3 4
  • CNAIP 3 4
  • Calcinerin/NFAT-Activating ITAM-Containing Protein 3
  • BK126B4.4 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. 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 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for NFAM1 Gene at MOPED

Post-translational modifications for NFAM1 Gene

Other Protein References for NFAM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
  • Contains 1 ITAM domain.
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 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

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for NFAM1 Gene COMPARTMENTS Subcellular localization image for NFAM1 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for NFAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 12615919
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IDA 12615919
genes like me logo Genes that share ontologies with NFAM1: view

Pathways & Interactions for NFAM1 Gene

SuperPathways for NFAM1 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Inflammatory Response & Autoimmunity 384HT in human,mouse,rat

Interacting Proteins for NFAM1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000333680%0d%0a9606.ENSP00000264972%0d%0a9606.ENSP00000364898%0d%0a
Selected Interacting proteins: Q8NET5-NFAM1_HUMAN ENSP00000333680 for NFAM1 Gene via I2D STRING

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 12615919
GO:0007166 cell surface receptor signaling pathway --
GO:0030183 B cell differentiation ISS 15143214
genes like me logo Genes that share ontologies with NFAM1: view

No data available for Pathways by source and SIGNOR curated interactions for NFAM1 Gene

Drugs & Compounds for NFAM1 Gene

No Compound Related Data Available

Transcripts for NFAM1 Gene

Unigene Clusters for NFAM1 Gene

NFAT activating protein with ITAM motif 1:
Representative Sequences:

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 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



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.
genes like me logo Genes that share expression patterns with NFAM1: view

Protein tissue co-expression partners for NFAM1 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

Orthologs for NFAM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NFAM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NFAM1 35
  • 76.12 (n)
  • 65.9 (a)
NFAM1 36
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFAM1 35
  • 72.36 (n)
  • 61.54 (a)
NFAM1 36
  • 55 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nfam1 35
  • 63.74 (n)
  • 50.88 (a)
Nfam1 16
Nfam1 36
  • 45 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NFAM1 35
  • 99.01 (n)
  • 98.15 (a)
NFAM1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfam1 35
  • 66.96 (n)
  • 56.33 (a)
oppossum
(Monodelphis domestica)
Mammalia NFAM1 36
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFAM1 36
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFAM1 35
  • 49.11 (n)
  • 36.1 (a)
NFAM1 36
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFAM1 36
  • 27 (a)
OneToOne
Species with no ortholog for NFAM1:
  • 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 MAF
rs713942 -- 42,384,325(+) TGACA(C/G)AGTGC utr-variant-3-prime
rs731025 -- 42,383,874(+) GGGAG(A/G)AAGCA utr-variant-3-prime
rs731026 -- 42,383,873(+) AGGGA(A/G)GAAGC utr-variant-3-prime
rs732406 -- 42,387,590(+) AGCCT(C/G)TATTC intron-variant
rs733278 -- 42,415,913(+) TGGCA(A/C)CATCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834211 CNV Loss 17160897
nsv829244 CNV Gain 20364138
nsv915169 CNV Loss 21882294
dgv1407e1 CNV Complex 17122850
nsv428391 CNV Gain 18775914
nsv817998 CNV Gain 17921354
nsv915171 CNV Loss 21882294
esv2724279 CNV Deletion 23290073
esv2724280 CNV Deletion 23290073
esv2724281 CNV Deletion 23290073
esv2724282 CNV Deletion 23290073
nsv9909 CNV Loss 18304495

Variation tolerance for NFAM1 Gene

Residual Variation Intolerance Score: 31.64% 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

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with NFAM1: view

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 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. CD28 and Grb-2, relative to Gads or Grap, preferentially co-operate with Vav1 in the activation of NFAT/AP-1 transcription. (PMID: 18295596) Schneider H. … Rudd C.E. (Biochem. Biophys. Res. Commun. 2008) 67
  4. Nuclear factor of activated T-cells (NFAT) plays a role in SV40 infection. (PMID: 18031784) Manley K. … Atwood W.J. (Virology 2008) 67
  5. Novel blocker of NFAT activation inhibits IL-6 production in human myometrial arteries and reduces vascular smooth muscle cell proliferation. (PMID: 17079331) Nilsson L.M. … Gomez M.F. (Am. J. Physiol., Cell Physiol. 2007) 67

Products for NFAM1 Gene

Sources for NFAM1 Gene

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