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

Gene ID: 150372, updated on 22-Jan-2020

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
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

Genomic context

See NFAM1 in Genome Data Viewer
Location:
22q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (42380407..42437986, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42776413..42833086, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6115 Neighboring gene long intergenic non-protein coding RNA 1315 Neighboring gene uncharacterized LOC101927344 Neighboring gene uncharacterized LOC101927372 Neighboring gene serine hydrolase like (pseudogene)

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40652

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transmembrane signaling receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
inflammatory response NAS
Non-traceable Author Statement
more info
PubMed 
intracellular signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of B cell receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytokine production NAS
Non-traceable Author Statement
more info
PubMed 
regulation of B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
azurophil granule membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001318323.3NP_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_001371362.1NP_001358291.1  NFAT activation molecule 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL022316, BC038241, CA426933
  3. NM_145912.8NP_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
    Q8NET5
    Related
    ENSP00000333680.5, ENST00000329021.10

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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