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

    Gene ID: 150372, updated on 9-Dec-2024

    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
    NEW
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    Try the new Transcript table

    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: 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

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)