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

Summary

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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
NFAM1 Promotes Pro-Inflammatory Cytokine Production in Mouse and Human Monocytes.
Title: NFAM1 Promotes Pro-Inflammatory Cytokine Production in Mouse and Human Monocytes.
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.
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.
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.
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.
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.

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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

D1S1423 (e-PCR)
- UniSTS:149619

D22S1270 (e-PCR)
- UniSTS:75772

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)

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

Status: VALIDATED

Source sequence(s)

AL022316, BC038241, CA426933
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