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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NFAM1 Gene

protein-coding   GIFtS: 44
GCID: GC22M042776

NFAT Activating Protein With ITAM Motif 1

  Search for NFAM1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NFAT Activating Protein With ITAM Motif 11 2     bK126B4.42
CNAIP2 3 5     Calcinerin/NFAT-Activating ITAM-Containing Protein2
Calcineurin/NFAT-Activating ITAM-Containing Protein2 3     NFAT Activation Molecule 12
NFAT-Activating Protein With ITAM Motif 12 3     

External Ids:    HGNC: 298721   Entrez Gene: 1503722   Ensembl: ENSG000002355687   OMIM: 6087405   UniProtKB: Q8NET53   

Export aliases for NFAM1 gene to outside databases

Previous GC identifers: GC22M039378 GC22M041007 GC22M041009 GC22M041100 GC22M025742


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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: NFAM1_HUMAN, Q8NET5
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NFAM1 gene promoter:
         RelA   CUTL1   NF-kappaB   GATA-1   GATA-2   POU2F1   Zic1   POU2F1a   TGIF   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNFAM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NFAM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFAM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

NFAM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFAM1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M042776:  view genomic region     (about GC identifiers)

Start:
42,776,413 bp from pter      End:
42,828,401 bp from pter
Size:
51,989 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NFAM1_HUMAN, Q8NET5 (See protein sequence)
Recommended Name: NFAT activation molecule 1 precursor  
Size: 270 amino acids; 29686 Da
Subunit: No direct interaction with the B-cell antigen receptor (BCR). Interacts with SYK; probably involved in
BCR signaling. Interacts with ZAP70 (By similarity)
Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity). Note=Partially recruited
to lipid rafts upon BCR stimulation (By similarity)
Secondary accessions: B0QYD0 Q20WL2 Q5JZ96 Q8IUY8 Q8TEM8

Explore the universe of human proteins at neXtProt for NFAM1: NX_Q8NET5

Explore proteomics data for NFAM1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NET5

  • NFAM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NFAM1 Protein Expression
    REFSEQ proteins: NP_666017.1  
    ENSEMBL proteins: 
     ENSP00000333680   ENSP00000347650  

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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0009986cell surface IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IDA12615919
    GO:0045121membrane raft IEA--

    NFAM1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR003110 Phos_immunorcpt_sig_ITAM
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q8NET5

    ProtoNet protein and cluster: Q8NET5

    2 Blocks protein domains:
    IPB003110 Phosphorylated immunoreceptor signaling ITAM
    IPB003599 Immunoglobulin subtype


    UniProtKB/Swiss-Prot: NFAM1_HUMAN, Q8NET5
    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
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain
    Similarity: Contains 1 ITAM domain


    NFAM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NFAM1_HUMAN, Q8NET5
    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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity IDA12615919
         
    NFAM1 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NFAM1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for NFAM1 (Q8NET53 ENSP000003336804) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SYKP434053, ENSP000003648984I2D: score=2 STRING: ENSP00000364898
    ZAP70P434033, ENSP000002649724I2D: score=2 STRING: ENSP00000264972
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001819positive regulation of cytokine production NAS12615919
    GO:0006954inflammatory response NAS12615919
    GO:0007165signal transduction IDA12615919
    GO:0007166cell surface receptor signaling pathway ----
    GO:0030183B cell differentiation ISS15143214

    NFAM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Search CenterWatch for drugs/clinical trials and news about NFAM1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NFAM1 gene: 
    NM_145912.5  

    Unigene Cluster for NFAM1:

    NFAT activating protein with ITAM motif 1
    Hs.436677  [show with all ESTs]
    Unigene Representative Sequence: NM_145912
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000329021(uc003bcn.4) ENST00000355469
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    Additional mRNA sequence: 

    AK074094.1 AK097971.1 AY121370.1 AY247409.1 BC038241.1 CT841509.1 

    4 DOTS entries:

    DT.95155006  DT.70103199  DT.95350222  DT.95316763 

    24/46 AceView cDNA sequences (see all 46):

    BI822131 BU584310 AI651781 H55271 BU584078 AY247409 AY121370 BC038241 
    NM_145912 CA748892 AK097971 BF509798 BI906855 AI591214 BQ017181 AI565657 
    AI492017 AI565667 BI910588 AW513682 AI565658 AW271350 BU584318 AI452395 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NFAM1 expression in normal human tissues (normalized intensities)      NFAM1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NFAM1 Expression
    About this image


    NFAM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 7 entries
             Monocytes Peripheral Blood
             neutrophils   
     
     Lung (Respiratory System)
             bronchoalveolar lavage cells   
     
     Bone (Muscoskeletal System)
             bone marrow   

    See NFAM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NFAM1

    SOURCE GeneReport for Unigene cluster: Hs.436677

    UniProtKB/Swiss-Prot: NFAM1_HUMAN, Q8NET5
    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

        SABiosciences Expression via Pathway-Focused PCR Array including NFAM1: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NFAM1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nfam11 , 5 Nfat activating molecule with ITAM motif 11, 5 62.87(n)1
    49.5(a)1
      15 (39.01 cM)5
    740391  NM_028728.21  NP_083004.11 
     829977215 
    chicken
    (Gallus gallus)
    Aves NFAM11 NFAT activating protein with ITAM motif 1 46.49(n)
    33.33(a)
      417979  XM_416217.2  XP_416217.1 
    lizard
    (Anolis carolinensis)
    Reptilia NFAM16
    NFAT activating protein with ITAM motif 1
    27(a)
    1 ↔ 1
    GL343614.1(94033-116901)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1278 SNPs in NFAM1 are shown (see all 1278)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs616210211,2
    C--26709197(+) TATAT-/ATAT  
            
    CTCAC
    1 -- int11Minor allele frequency- ATAT:0.00NA 2
    rs1124261351,2
    F--42775913(+) AACCTC/TGGGGC 1 -- ds50012Minor allele frequency- T:0.50CSA 4
    rs610181431,2
    C--42775914(+) ACCTCG/AGGGCC 1 -- ds50013Minor allele frequency- A:0.09NA EA 242
    rs48221211,2
    C,F,A,H--42775948(+) GAACAT/GTGAAC 1 -- ds50015Minor allele frequency- G:0.49NA WA EA 362
    rs2008556141,2
    --42775948(+) GAACA-/GTGAAC 1 -- ds50010--------
    rs48221221,2
    C,F,A,H--42775949(+) AACAGA/TGAACT 1 -- ds50015Minor allele frequency- T:0.49NA WA EA 362
    rs1510253421,2
    --42775954(+) TGAACG/TTCTAT 1 -- ds50010--------
    rs1409352991,2
    --42775993(+) TTCCCA/GTAGGG 1 -- ds50010--------
    rs1173809111,2
    C,F--42776175(+) GTCTCC/TGGCAG 1 -- ds50011Minor allele frequency- T:0.02NA 120
    rs1826791321,2
    --42776190(+) CACCAC/TGTGGG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for NFAM1 (42776413 - 42828401 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for NFAM1 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724279CNV Deletion23290073
    esv2724282CNV Deletion23290073
    esv2724281CNV Deletion23290073
    esv2724280CNV Deletion23290073
    nsv915171CNV Loss21882294
    nsv915169CNV Loss21882294
    nsv9909CNV Loss18304495
    nsv834211CNV Loss17160897
    nsv428391CNV Gain18775914
    nsv829244CNV Gain20364138

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NFAM1 for disorders           About MalaCards
    OMIM gene information: 608740    OMIM disorders: --


    NFAM1 for disorders           About GeneDecksing


    Export disorders for NFAM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NFAM1 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with NFAM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 12615919)1, 2, 3, 9 Yang J.... Yao Z. (2003)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. NFAM1, an immunoreceptor tyrosine-based activation motif-bearing molecule that regulates B cell development and signaling. (PubMed id 15143214)1, 2 Ohtsuka M.... Saito T. (2004)
    4. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PubMed id 12693554)1, 2 Jikuya H....Ohara O. (2003)
    5. CD28 and Grb-2, relative to Gads or Grap, preferentially co-operate with Vav1 in the activation of NFAT/AP-1 transcription. (PubMed id 18295596)1 Schneider H. and Rudd C.E. (2008)
    6. Nuclear factor of activated T-cells (NFAT) plays a role in SV40 infection. (PubMed id 18031784)1 Manley K....Atwood W.J. (2008)
    7. Novel blocker of NFAT activation inhibits IL-6 production in human myometrial arteries and reduces vascular smooth muscle cell proliferation. (PubMed id 17079331)1 Nilsson L.M....Gomez M.F. (2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    9. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1 Collins J.E.... Dunham I. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 150372 HGNC: 29872 AceView: NFAM1 Ensembl:ENSG00000235568 euGenes: HUgn150372
    ECgene: NFAM1 H-InvDB: NFAM1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NFAM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NFAM1 gene:
    Search GeneIP for patents involving NFAM1

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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