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

Gene ID: 150372, updated on 5-Mar-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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Location:
22q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42380407..42437986, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42861411..42918941, complement)
105.20220307 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 (18) 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)

Genotypes

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 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 ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in positive regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
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_2023_10

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

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Chemical Information
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