NFATC1 nuclear factor of activated T cells 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NFATC1provided by HGNC
Official Full Name: nuclear factor of activated T cells 1provided by HGNC
Primary source: HGNC:HGNC:7775
See related: Ensembl:ENSG00000131196 MIM:600489; AllianceGenome:HGNC:7775
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NFAT2; NFATc; NF-ATC; NF-ATc1.2
Summary: The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]
Expression: Broad expression in lymph node (RPKM 7.4), spleen (RPKM 6.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q23

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (79395930..79529323)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (79649928..79782943)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (77155930..77289323)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Recent advances of NFATc1 in rheumatoid arthritis-related bone destruction: mechanisms and potential therapeutic targets.
Title: Recent advances of NFATc1 in rheumatoid arthritis-related bone destruction: mechanisms and potential therapeutic targets.
Clinical value of echocardiography combined with serum Cav-1, NFATc1, and PAI-1 in the diagnosis of Kawasaki disease complicated with coronary artery lesions.
Title: Clinical value of echocardiography combined with serum Cav-1, NFATc1, and PAI-1 in the diagnosis of Kawasaki disease complicated with coronary artery lesions.
USP7-mediated JUND suppresses RCAN2 transcription and elevates NFATC1 to enhance stem cell property in colorectal cancer.
Title: USP7-mediated JUND suppresses RCAN2 transcription and elevates NFATC1 to enhance stem cell property in colorectal cancer.
Exosome-targeted delivery of METTL14 regulates NFATc1 m6A methylation levels to correct osteoclast-induced bone resorption.
Title: Exosome-targeted delivery of METTL14 regulates NFATc1 m6A methylation levels to correct osteoclast-induced bone resorption.
The role of NFATc1 in the progression and metastasis of prostate cancer: A review on the molecular mechanisms and signaling pathways.
Title: The role of NFATc1 in the progression and metastasis of prostate cancer: A review on the molecular mechanisms and signaling pathways.
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Title: Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Title: Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
NFAT and NF-kappaB dynamically co-regulate TCR and CAR signaling responses in human T cells.
Title: NFAT and NF-κB dynamically co-regulate TCR and CAR signaling responses in human T cells.
SIRT3-and FAK-mediated acetylation-phosphorylation crosstalk of NFATc1 regulates N[epsilon]-carboxymethyl-lysine-induced vascular calcification in diabetes mellitus.
Title: SIRT3-and FAK-mediated acetylation-phosphorylation crosstalk of NFATc1 regulates N(ε)-carboxymethyl-lysine-induced vascular calcification in diabetes mellitus.
Human bone marrow-derived mesenchymal stem overexpressing microRNA-124-3p inhibit DLBCL progression by downregulating the NFATc1/cMYC pathway.
Title: Human bone marrow-derived mesenchymal stem overexpressing microRNA-124-3p inhibit DLBCL progression by downregulating the NFATc1/cMYC pathway.

Submit: New GeneRIF Correction See all GeneRIFs (191)

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 and anti-CD4 antibodies induce a specific, significant decrease in the binding activity of NF-AT, NF-kappa B and AP-1, which leads to an inhibition of IL-2 production and cell proliferation	PubMed
	env	Using either anti-CD4 monoclonal antibodies or HIV-1 gp120 binding to CD4 reveals a common epitope-specific activation of both the HIV-1 LTR and of the transcription factors NF-kappa B and NF-AT	PubMed
Nef	nef	HIV-1 Vpu downregulates NRON levels but HIV-1 Nef upregulates NRON levels in Jurkat cells, leading to reciprocal regulation in NFAT activity through NRON by Vpu and Nef	PubMed
	nef	HIV-1 Nef-induced priming of TCR signaling pathways increases the number of cells expressing the transcription factors NF-kappaB and NFAT after TCR stimulation	PubMed
	nef	Nef-mediated super-induction of IL-2 reflects the activation of both NFAT and NFkappaB in response to CD3 or CD28 stimulation	PubMed
	nef	HIV-1 Nef expression significantly downregulates the level of plasma membrane GM1 in unstimulated T cells, which inhibits the activation of nuclear factor of activated T-cells (NF-AT)	PubMed
Tat	tat	The transcription factors NF-KappaB and NF-AT contribute to the Tat-induced activation of the HERV-K (HML-2) gag RNA transcripts in Jurkat T cells and in primary lymphocytes	PubMed
	tat	HIV-1 Tat expression in Jurkat T cells enhances cooperative NFAT/AP-1- but not AP-1-dependent transcription independent of its ability to transactivate the HIV-1 LTR	PubMed
	tat	Transcription factors NFAT and AP-1 (c-Jun/c-Fos) are required for HIV-1 Tat-induced upregulation of COX-2	PubMed
	tat	Induction of TNF-alpha by HIV-1 Tat is inhibited by cyclosporin A, an inhibitor of calcineurin that acts by preventing the dephosphorylation of NF-AT	PubMed
	tat	HIV-1 Tat enhances IL-2 promoter activity through synergism with phorbol ester and calcium-mediated activation of the NF-AT cis-regulatory motif	PubMed
	tat	NF-ATc synergizes with NF-kappa B and HIV-1 Tat in transcriptional activation of the HIV-1 LTR promoter and enhances HIV-1 replication in T cells	PubMed
Vpr	vpr	HIV-1 Vpr induces NFAT in primary T cells and macrophages	PubMed
	vpr	HIV-1 Vpr stimulates early NFAT activation	PubMed
	vpr	HIV-1 Vpr upregulates NFAT-directed gene expression	PubMed
Vpu	vpu	HIV-1 Vpu downregulates NRON levels but HIV-1 Nef upregulates NRON levels in Jurkat cells, leading to reciprocal regulation in NFAT activity through NRON by Vpu and Nef	PubMed
reverse transcriptase	gag-pol	NFATc facilitates HIV-1 RT reverse transcription activity and enhances HIV-1 infectivity in human T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-T92423 (e-PCR)
- UniSTS:35193

D18S1095 (e-PCR)
- UniSTS:34940

SHGC-132069 (e-PCR)
- UniSTS:170627

STS-U08015 (e-PCR)
- UniSTS:34979

D18S1221 (e-PCR)
- UniSTS:20136

RH91458 (e-PCR)
- UniSTS:89062

GDB:555590 (e-PCR)
- UniSTS:157687

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables FK506 binding	TAS Traceable Author Statement more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables mitogen-activated protein kinase p38 binding	ISS Inferred from Sequence or Structural Similarity more info
enables nucleic acid binding	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within aortic valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcineurin-NFAT signaling cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcineurin-NFAT signaling cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in mononuclear cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vascular associated smooth muscle cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within pulmonary valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to muscle activity	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle adaptation	IEA Inferred from Electronic Annotation more info
involved_in wound healing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in sarcoplasm	IEA Inferred from Electronic Annotation more info
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: nuclear factor of activated T-cells, cytoplasmic 1

Names: NFAT transcription complex cytosolic component; nuclear factor of activated T-cells 'c'; nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1

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.

Genomic

NG_029226.1 RefSeqGene

Range

5159..138552

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278669.2 → NP_001265598.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform F

See identical proteins and their annotated locations for NP_001265598.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) encodes the longest isoform (F).

Source sequence(s)

EU887559, EU887563, U80917

Consensus CDS

CCDS62467.1

UniProtKB/Swiss-Prot

B5B2M4, B5B2M5, B5B2M6, B5B2M7, B5B2M8, B5B2M9, B5B2N1, O95644, Q12865, Q15793, Q2M1S3

Related

ENSP00000389377.2, ENST00000427363.7

Conserved Domains (2) summary

cd07881
Location:416 → 590

RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins

cl15674
Location:595 → 695

IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
NM_001278670.2 → NP_001265599.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform G

See identical proteins and their annotated locations for NP_001265599.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks an in-frame exon in the 3' coding region, compared to variant 6. The encoded isoform (G) lacks an internal segment in the C-terminal region, compared to isoform F.

Source sequence(s)

EU887561, EU887563, U80917

Consensus CDS

CCDS62468.1

UniProtKB/TrEMBL

A8K9C6

Related

ENSP00000442435.1, ENST00000542384.5

Conserved Domains (2) summary

cd07881
Location:416 → 590

RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins

cl15674
Location:595 → 695

IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
NM_001278672.2 → NP_001265601.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform H

See identical proteins and their annotated locations for NP_001265601.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) has an alternate 5' terminal exon, which results in a different 5' UTR and 5' coding region, and lacks an in-frame exon in the 3' coding region, compared to variant 6. The encoded isoform (H) is shorter; it has a distinct N-terminus and lacks an internal segment in the C-terminal region, compared to isoform F.

Source sequence(s)

EU887562, EU887563, HY039825

Consensus CDS

CCDS62469.1

UniProtKB/TrEMBL

A8K9C6

Related

ENSP00000466489.1, ENST00000586434.1

Conserved Domains (2) summary

cd07881
Location:403 → 577

RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins

cl15674
Location:582 → 682

IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
NM_001278673.2 → NP_001265602.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform J

Status: REVIEWED

Description

Transcript Variant: This variant (10) has an alternate 5' terminal exon and lacks an internal exon in the 5' region, which results in a downstream translation start codon, compared to variant 6. The encoded isoform (J) is shorter at the N-terminus, compared to isoform F.

Source sequence(s)

AK293760, EU887559, EU887563, HY039825

Consensus CDS

CCDS62471.1

UniProtKB/TrEMBL

B4DER8, F5H4S8

Related

ENSP00000439992.1, ENST00000545796.5

Conserved Domains (2) summary

cl08275
Location:1 → 118

RHD-n; N-terminal sub-domain of the Rel homology domain (RHD)

cl15674
Location:123 → 223

IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
NM_001278675.2 → NP_001265604.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform I

See identical proteins and their annotated locations for NP_001265604.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) has multiple differences, compared to variant 6. These differences result in distinct 5' and 3' UTRs and 5' and 3' terminal coding regions, compared to variant 6. The encoded isoform (I) is shorter and has distinct N- and C-termini, compared to isoform F.

Source sequence(s)

AA621079, AC018445, EU887566, HY039825

Consensus CDS

CCDS62470.1

UniProtKB/TrEMBL

A8K9C6

Related

ENSP00000467181.1, ENST00000592223.5

Conserved Domains (2) summary

cd07881
Location:403 → 577

RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins

cl15674
Location:582 → 682

IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
NM_006162.5 → NP_006153.2 nuclear factor of activated T-cells, cytoplasmic 1 isoform B

See identical proteins and their annotated locations for NP_006153.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 6. The encoded isoform (B) is truncated at the C-terminus, compared to isoform F.

Source sequence(s)

EU887563, U80917

Consensus CDS

CCDS12015.1

UniProtKB/TrEMBL

A8K9C6

Related

ENSP00000253506.5, ENST00000253506.9

Conserved Domains (2) summary

cd07881
Location:416 → 590

RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins

cl15674
Location:595 → 695

IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
NM_172387.3 → NP_765975.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform C

See identical proteins and their annotated locations for NP_765975.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate 5' terminal exon, which results in a different 5' UTR and 5' coding region, compared to variant 6. The encoded isoform (C) is shorter and has a distinct N-terminus, compared to isoform F.

Source sequence(s)

EU887560, EU887563, HY039825, U80918

Consensus CDS

CCDS32850.1

UniProtKB/Swiss-Prot

O95644

Related

ENSP00000327850.3, ENST00000329101.8

Conserved Domains (2) summary

cd07881
Location:403 → 577

RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins

cl15674
Location:582 → 682

IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
NM_172388.3 → NP_765976.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform D

See identical proteins and their annotated locations for NP_765976.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an internal exon in the 5' region, which results in a downstream translation start codon, and has an alternate splice site in the 3' coding region, compared to variant 6. The encoded isoform (D) is shorter at both the N- and C- termini, compared to isoform F.

Source sequence(s)

AW014910, EU887563, U80919

Consensus CDS

CCDS12016.1

UniProtKB/Swiss-Prot

O95644

Related

ENSP00000380892.2, ENST00000397790.6

Conserved Domains (2) summary

cl08275
Location:1 → 118

RHD-n; N-terminal sub-domain of the Rel homology domain (RHD)

cl15674
Location:123 → 223

IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
NM_172389.3 → NP_765977.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform E

See identical proteins and their annotated locations for NP_765977.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) has an alternate 5' terminal exon, which results in a different 5' UTR and 5' coding region, and uses an alternate splice site in the 3' coding region, compared to variant 6. The encoded isoform (E, also known as C.b) is shorter; it has a distinct N-terminus and is truncated at the C-terminus, compared to isoform F.

Source sequence(s)

EU887563, HY039825, U59736

Consensus CDS

CCDS59327.1

UniProtKB/TrEMBL

A8K9C6

Related

ENSP00000316553.5, ENST00000318065.9

Conserved Domains (2) summary

cd07881
Location:403 → 577

RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins

cl15674
Location:582 → 682

IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...
NM_172390.3 → NP_765978.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform A

See identical proteins and their annotated locations for NP_765978.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks two exons and its transcription extends past a splice site that is used in variant 6, which results in a novel 3' coding region and 3' UTR, compared to variant 6. The encoded isoform (A) is shorter and has a distinct C-terminus, compared to isoform F.

Source sequence(s)

AA621079, AC018445, AK292641, EU887565

Consensus CDS

CCDS59326.1

UniProtKB/TrEMBL

A8K9C6

Related

ENSP00000466194.1, ENST00000591814.5

Conserved Domains (3) summary

cd07881
Location:416 → 590

RHD-n_NFAT; N-terminal sub-domain of the Rel homology domain (RHD) of nuclear factor of activated T-cells (NFAT) proteins

cl15674
Location:595 → 695

IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...

cl26464
Location:53 → 292

Atrophin-1; Atrophin-1 family

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

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

79395930..79529323

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017025783.3 → XP_016881272.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform X1

UniProtKB/TrEMBL

A8K9C6
XM_047437538.1 → XP_047293494.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform X2

UniProtKB/TrEMBL

A8K9C6

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

79649928..79782943

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054318662.1 → XP_054174637.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform X1

UniProtKB/TrEMBL

A8K9C6
XM_054318663.1 → XP_054174638.1 nuclear factor of activated T-cells, cytoplasmic 1 isoform X2

UniProtKB/TrEMBL

A8K9C6