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    NFAM1 NFAT activating protein with ITAM motif 1 [ Homo sapiens (human) ]

    Gene ID: 150372, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NFAM1provided by HGNC
    Official Full Name
    NFAT activating protein with ITAM motif 1provided by HGNC
    Primary source
    HGNC:HGNC:29872
    See related
    Ensembl:ENSG00000235568 MIM:608740; AllianceGenome:HGNC:29872
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CNAIP
    Summary
    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]
    Expression
    Broad expression in bone marrow (RPKM 10.9), appendix (RPKM 7.1) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NFAM1 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42380407..42437986, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42861411..42918941, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42776413..42833992, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42761307-42762149 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42763534-42764468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19161 Neighboring gene Sharpr-MPRA regulatory region 6115 Neighboring gene uncharacterized LOC124905126 Neighboring gene long intergenic non-protein coding RNA 1315 Neighboring gene Sharpr-MPRA regulatory region 1538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42821196-42821779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42834221-42834722 Neighboring gene uncharacterized LOC101927344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42836600-42837599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42840373-42841139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19167 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:42894685-42895205 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:42895291-42895792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13826 Neighboring gene uncharacterized LOC101927372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42900600-42901233 Neighboring gene serine hydrolase like (pseudogene)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. NFAT activating protein with ITAM motif 1 (NFAM1) is upregulated on circulating monocytes in coronary artery disease and potentially correlated with monocyte chemotaxis. Long J, et al. Atherosclerosis, 2020 Aug. PMID 32711213
    2. Nuclear factor of activated T-cells (NFAT) plays a role in SV40 infection. Manley K, et al. Virology, 2008 Mar 1. PMID 18031784, Free PMC Article
    3. NFAM1 Promotes Pro-Inflammatory Cytokine Production in Mouse and Human Monocytes. Juchem KW, et al. Front Immunol, 2021. PMID 35095847, Free PMC Article
    4. Novel blocker of NFAT activation inhibits IL-6 production in human myometrial arteries and reduces vascular smooth muscle cell proliferation. Nilsson LM, et al. Am J Physiol Cell Physiol, 2007 Mar. PMID 17079331
    5. 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. Yang J, et al. J Biol Chem, 2003 May 9. PMID 12615919

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Extracellular Vesicle-Derived circITGB1 Regulates Dendritic Cell Maturation and Cardiac Inflammation via miR-342-3p/NFAM1.
      Title: Extracellular Vesicle-Derived circITGB1 Regulates Dendritic Cell Maturation and Cardiac Inflammation via miR-342-3p/NFAM1.
    2. NFAM1 Promotes Pro-Inflammatory Cytokine Production in Mouse and Human Monocytes.
      Title: NFAM1 Promotes Pro-Inflammatory Cytokine Production in Mouse and Human Monocytes.
    3. NFAT activating protein with ITAM motif 1 (NFAM1) is upregulated on circulating monocytes in coronary artery disease and potentially correlated with monocyte chemotaxis.
      Title: NFAT activating protein with ITAM motif 1 (NFAM1) is upregulated on circulating monocytes in coronary artery disease and potentially correlated with monocyte chemotaxis.
    4. Our findings define a pathway involving CD28 binding to Grb-2 and its co-operativity with Vav1 in the regulation of T-cell co-stimulation.
      Title: CD28 and Grb-2, relative to Gads or Grap, preferentially co-operate with Vav1 in the activation of NFAT/AP-1 transcription.
    5. NFAT plays a role in SV40 infection via transcriptional control of Simian Virus 40.
      Title: Nuclear factor of activated T-cells (NFAT) plays a role in SV40 infection.
    6. Our results demonstrate NFAT expression and activation in native human vessels and point out A-285222 as a powerful pharmacological blocker of NFAT signaling in the vasculature.
      Title: Novel blocker of NFAT activation inhibits IL-6 production in human myometrial arteries and reduces vascular smooth muscle cell proliferation.
    7. CNAIP is a ITAM-containing protein that activates the calcineurin/NFAT-signaling pathway and the downstream cytokine gene promoters
      Title: 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40652

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in B cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in B cell receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in calcineurin-NFAT signaling cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inflammatory response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of B cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cytokine production NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane raft IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    NFAT activation molecule 1
    Names
    calcineurin/NFAT-activating ITAM-containing protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001318323.3 → NP_001305252.1  NFAT activation molecule 1 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift and an early stop codon compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL022316, BC038241, BI906855, CA426933
      UniProtKB/Swiss-Prot
      Q8NET5

    2. NM_001371362.1 → NP_001358291.1  NFAT activation molecule 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL022316, BC038241, CA426933

    3. NM_145912.8 → NP_666017.1  NFAT activation molecule 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_666017.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL022316, AY121370, BC038241, CA426933
      Consensus CDS
      CCDS14034.1
      UniProtKB/Swiss-Prot
      B0QYD0, Q20WL2, Q5JZ96, Q8IUY8, Q8NET5, Q8TEM8
      Related
      ENSP00000333680.5, ENST00000329021.10

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      42380407..42437986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42861411..42918941 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NET5.1 GenPept UniProtKB/Swiss-Prot:Q8NET5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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