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

Gene ID: 150372, updated on 4-Jan-2025

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
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Genomic context

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

General gene information

Clone Names

  • FLJ40652

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in azurophil granule membrane  
located_in membrane PubMed 
is_active_in membrane raft  
located_in plasma membrane  

General protein information

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_001318323.3NP_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
    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)
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