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Protein

NFAT activation molecule 1

Gene

NFAM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May function in immune system as a receptor which activates via the calcineurin/NFAT-signaling pathway the downstream cytokine gene promoters. Activates the transcription of IL-13 and TNF-alpha promoters. May be involved in the regulation of B-cell, but not T-cell, development. Overexpression activates downstream effectors without ligand binding or antibody cross-linking.2 Publications

GO - Molecular functioni

  • transmembrane signaling receptor activity Source: HGNC

GO - Biological processi

  • B cell differentiation Source: HGNC
  • B cell receptor signaling pathway Source: Ensembl
  • inflammatory response Source: HGNC
  • intracellular signal transduction Source: HGNC
  • neutrophil degranulation Source: Reactome
  • positive regulation of B cell receptor signaling pathway Source: HGNC
  • positive regulation of cytokine production Source: HGNC
  • positive regulation of sequence-specific DNA binding transcription factor activity Source: HGNC
  • regulation of B cell differentiation Source: Ensembl
  • signal transduction Source: HGNC

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.
SignaLinkiQ8NET5.

Names & Taxonomyi

Protein namesi
Recommended name:
NFAT activation molecule 1
Alternative name(s):
Calcineurin/NFAT-activating ITAM-containing protein
NFAT-activating protein with ITAM motif 1
Gene namesi
Name:NFAM1
Synonyms:CNAIP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:29872. NFAM1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini43 – 163ExtracellularSequence analysisAdd BLAST121
Transmembranei164 – 184HelicalSequence analysisAdd BLAST21
Topological domaini185 – 270CytoplasmicSequence analysisAdd BLAST86

GO - Cellular componenti

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi220Y → A or F: Abolishes the ITAM-mediated-activating activity. 2 Publications1
Mutagenesisi231Y → A or F: Abolishes the ITAM-mediated-activating activity. 2 Publications1

Organism-specific databases

DisGeNETi150372.
OpenTargetsiENSG00000235568.
PharmGKBiPA134949664.

Polymorphism and mutation databases

BioMutaiNFAM1.
DMDMi34222694.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 42Sequence analysisAdd BLAST42
ChainiPRO_000001504643 – 270NFAT activation molecule 1Add BLAST228

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi65 ↔ 114By similarity
Glycosylationi107N-linked (GlcNAc...)Sequence analysis1
Modified residuei220PhosphotyrosineCurated1
Modified residuei231PhosphotyrosineCurated1

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ8NET5.
PaxDbiQ8NET5.
PeptideAtlasiQ8NET5.
PRIDEiQ8NET5.

PTM databases

iPTMnetiQ8NET5.
PhosphoSitePlusiQ8NET5.

Expressioni

Tissue specificityi

Highly expressed in neutrophils, primary monocytes, mast cells, monocytic cell lines and lymphocytes. Also expressed in spleen B and T-cells, and lung. Expressed at low level in non-immune tissue.2 Publications

Gene expression databases

BgeeiENSG00000235568.
CleanExiHS_NFAM1.
ExpressionAtlasiQ8NET5. baseline and differential.
GenevisibleiQ8NET5. HS.

Organism-specific databases

HPAiHPA031812.

Interactioni

Subunit structurei

No direct interaction with the B-cell antigen receptor (BCR). Interacts with SYK; probably involved in BCR signaling. Interacts with ZAP70 (By similarity).By similarity

Protein-protein interaction databases

BioGridi127289. 1 interactor.
IntActiQ8NET5. 2 interactors.
STRINGi9606.ENSP00000333680.

Structurei

3D structure databases

ProteinModelPortaliQ8NET5.
SMRiQ8NET5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini50 – 150Ig-like V-typeAdd BLAST101
Domaini209 – 237ITAMPROSITE-ProRule annotationAdd BLAST29

Domaini

The ITAM domain displays no close similarity to any existing ITAMs, except for four conserved positions. The phosphorylated ITAM domain binds ZAP70 and SYK.

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J2TX. Eukaryota.
ENOG4111559. LUCA.
GeneTreeiENSGT00390000000787.
HOGENOMiHOG000113773.
HOVERGENiHBG052611.
InParanoidiQ8NET5.
OMAiTEVYACI.
OrthoDBiEOG091G0IQ5.
PhylomeDBiQ8NET5.
TreeFamiTF336307.

Family and domain databases

InterProiView protein in InterPro
IPR033549. NFAM1.
IPR003110. Phos_immunorcpt_sig_ITAM.
PANTHERiPTHR35680. PTHR35680. 1 hit.
PROSITEiView protein in PROSITE
PS51055. ITAM_1. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8NET5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MENQPVRWRA LPGLPRPPGL PAAPWLLLGV LLLPGTLRLA GGQSVTHTGL
60 70 80 90 100
PIMASLANTA ISFSCRITYP YTPQFKVFTV SYFHEDLQGQ RSPKKPTNCH
110 120 130 140 150
PGLGTENQSH TLDCQVTLVL PGASATGTYY CSVHWPHSTV RGSGTFILVR
160 170 180 190 200
DAGYREPPQS PQKLLLFGFT GLLSVLSVVG TALLLWNKKR MRGPGKDPTR
210 220 230 240 250
KCPDPRSASS PKQHPSESVY TALQRRETEV YACIENEDGS SPTAKQSPLS
260 270
QERPHRFEDD GELNLVYENL
Length:270
Mass (Da):29,686
Last modified:October 1, 2002 - v1
Checksum:i0026DBDE1FEAD2B3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049964137H → Y. Corresponds to variant dbSNP:rs34296033Ensembl.1
Natural variantiVAR_049965187N → K. Corresponds to variant dbSNP:rs17003048Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY247409 mRNA. Translation: AAO91847.1.
AY121370 mRNA. Translation: AAM83133.1.
CT841509 mRNA. Translation: CAJ86439.1.
AL022316 Genomic DNA. Translation: CAQ10428.1.
CH471095 Genomic DNA. Translation: EAW60505.1.
BC038241 mRNA. Translation: AAH38241.2.
AK074094 mRNA. Translation: BAB84920.1.
CCDSiCCDS14034.1.
RefSeqiNP_001305252.1. NM_001318323.1.
NP_666017.1. NM_145912.6.
UniGeneiHs.436677.

Genome annotation databases

EnsembliENST00000329021; ENSP00000333680; ENSG00000235568.
GeneIDi150372.
KEGGihsa:150372.
UCSCiuc003bcn.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY247409 mRNA. Translation: AAO91847.1.
AY121370 mRNA. Translation: AAM83133.1.
CT841509 mRNA. Translation: CAJ86439.1.
AL022316 Genomic DNA. Translation: CAQ10428.1.
CH471095 Genomic DNA. Translation: EAW60505.1.
BC038241 mRNA. Translation: AAH38241.2.
AK074094 mRNA. Translation: BAB84920.1.
CCDSiCCDS14034.1.
RefSeqiNP_001305252.1. NM_001318323.1.
NP_666017.1. NM_145912.6.
UniGeneiHs.436677.

3D structure databases

ProteinModelPortaliQ8NET5.
SMRiQ8NET5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127289. 1 interactor.
IntActiQ8NET5. 2 interactors.
STRINGi9606.ENSP00000333680.

PTM databases

iPTMnetiQ8NET5.
PhosphoSitePlusiQ8NET5.

Polymorphism and mutation databases

BioMutaiNFAM1.
DMDMi34222694.

Proteomic databases

EPDiQ8NET5.
PaxDbiQ8NET5.
PeptideAtlasiQ8NET5.
PRIDEiQ8NET5.

Protocols and materials databases

DNASUi150372.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329021; ENSP00000333680; ENSG00000235568.
GeneIDi150372.
KEGGihsa:150372.
UCSCiuc003bcn.5. human.

Organism-specific databases

CTDi150372.
DisGeNETi150372.
GeneCardsiNFAM1.
HGNCiHGNC:29872. NFAM1.
HPAiHPA031812.
MIMi608740. gene.
neXtProtiNX_Q8NET5.
OpenTargetsiENSG00000235568.
PharmGKBiPA134949664.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J2TX. Eukaryota.
ENOG4111559. LUCA.
GeneTreeiENSGT00390000000787.
HOGENOMiHOG000113773.
HOVERGENiHBG052611.
InParanoidiQ8NET5.
OMAiTEVYACI.
OrthoDBiEOG091G0IQ5.
PhylomeDBiQ8NET5.
TreeFamiTF336307.

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.
SignaLinkiQ8NET5.

Miscellaneous databases

GenomeRNAii150372.
PROiQ8NET5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000235568.
CleanExiHS_NFAM1.
ExpressionAtlasiQ8NET5. baseline and differential.
GenevisibleiQ8NET5. HS.

Family and domain databases

InterProiView protein in InterPro
IPR033549. NFAM1.
IPR003110. Phos_immunorcpt_sig_ITAM.
PANTHERiPTHR35680. PTHR35680. 1 hit.
PROSITEiView protein in PROSITE
PS51055. ITAM_1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNFAM1_HUMAN
AccessioniPrimary (citable) accession number: Q8NET5
Secondary accession number(s): B0QYD0
, Q20WL2, Q5JZ96, Q8IUY8, Q8TEM8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 22, 2003
Last sequence update: October 1, 2002
Last modified: March 15, 2017
This is version 124 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.