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Aliases for NACA Gene

Aliases for NACA Gene

  • Nascent Polypeptide-Associated Complex Alpha Subunit 2 3 5
  • Nascent-Polypeptide-Associated Complex Alpha Polypeptide 2 3
  • Alpha-NAC, Muscle-Specific Form 3 4
  • NAC-Alpha 3 4
  • SkNAC 3 4
  • Nascent Polypeptide-Associated Complex Subunit Alpha 3
  • Allergen Hom S 2 4
  • Alpha-NAC 4
  • HSD48 3
  • NACA1 3

External Ids for NACA Gene

Previous GeneCards Identifiers for NACA Gene

  • GC12M057078
  • GC12M057330
  • GC12M056820
  • GC12M055392
  • GC12M054144
  • GC12M057106

Summaries for NACA Gene

Entrez Gene Summary for NACA Gene

  • This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]

GeneCards Summary for NACA Gene

NACA (Nascent Polypeptide-Associated Complex Alpha Subunit) is a Protein Coding gene. Diseases associated with NACA include Dermatitis and Skeletal Muscle Cancer. Among its related pathways are ERK Signaling. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and TBP-class protein binding. An important paralog of this gene is NACAD.

UniProtKB/Swiss-Prot for NACA Gene

  • Cardiac- and muscle-specific transcription factor. May act to regulate the expression of genes involved in the development of myotubes. Plays a critical role in ventricular cardiomyocyte expansion and regulates postnatal skeletal muscle growth and regeneration. Involved in the organized assembly of thick and thin filaments of myofibril sarcomeres (By similarity).

  • Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites). May act as a specific coactivator for JUN, binding to DNA and stabilizing the interaction of JUN homodimers with target gene promoters.

Gene Wiki entry for NACA Gene

Additional gene information for NACA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NACA Gene

Genomics for NACA Gene

GeneHancer (GH) Regulatory Elements for NACA Gene

Promoters and enhancers for NACA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I056718 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.4 +9.1 9070 8.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC NACA BAZ2A ANKRD52 NEMP1 IKZF4 ENSG00000257740 DNAJC14 SMARCC2 STAT2 PRIM1
GH12I055827 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.9 +902.0 902008 4.7 MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC DNAJC14 TMEM198B GC12P055831 PIR58217 BAZ2A ENSG00000258317 ZC3H10 ENSG00000257740 PHC1P1 RN7SL809P
GH12I056040 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 +689.6 689629 3.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 RPS26 LOC105369780 BAZ2A RN7SL809P STAT2 PAN2 ENSG00000258199 ZC3H10 CDK2 ENSG00000257740
GH12I057109 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 9.9 -379.6 -379626 3.8 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF416 ZNF143 ZNF548 MCM3 STAT6 NEMP1 EEF1AKMT3 ENSG00000257740 BAZ2A PAN2 SMARCC2 ANKRD52 CDK4 CTDSP2
GH12I056628 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.2 +101.9 101947 3 HDGF FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 IRF4 YY1 BAZ2A RBMS2 RNU6-343P ANKRD52 IKZF4 PTGES3 NEMP1 ENSG00000257740 SMARCC2 R3HDM2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NACA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NACA gene promoter:

Genomic Locations for NACA Gene

Genomic Locations for NACA Gene
chr12:56,712,427-56,731,628
(GRCh38/hg38)
Size:
19,202 bases
Orientation:
Minus strand
chr12:57,106,211-57,125,412
(GRCh37/hg19)

Genomic View for NACA Gene

Genes around NACA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NACA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NACA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NACA Gene

Proteins for NACA Gene

  • Protein details for NACA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    E9PAV3-NACAM_HUMAN
    Recommended name:
    Nascent polypeptide-associated complex subunit alpha, muscle-specific form
    Protein Accession:
    E9PAV3

    Protein attributes for NACA Gene

    Size:
    2078 amino acids
    Molecular mass:
    205422 Da
    Quaternary structure:
    • Interacts (via PXLXP motif) with the muscle-restricted histone methyltransferase SMYD1 (via MYND-type zinc finger).

    Alternative splice isoforms for NACA Gene

    UniProtKB/Swiss-Prot:
  • Protein details for NACA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13765-NACA_HUMAN
    Recommended name:
    Nascent polypeptide-associated complex subunit alpha
    Protein Accession:
    Q13765
    Secondary Accessions:
    • A8MTN7
    • B2R4P8
    • F8VU71
    • Q3KQV4
    • Q53A18
    • Q53G46

    Protein attributes for NACA Gene

    Size:
    215 amino acids
    Molecular mass:
    23384 Da
    Quaternary structure:
    • Interacts with TBP and JUN (By similarity). Part of the nascent polypeptide-associated complex (NAC), which is a heterodimer of NACA and BTF3 (via NAC-A/B domains). NAC associates with ribosomes through the BTF3/NACB subunit and contacts the ribosomal protein L23, which is positioned near the exiting site. Both subunits can contact nascent polypeptide chains. NACA may also form homodimers, and only this form binds DNA. Interacts with ASFV protein H339R.
    SequenceCaution:
    • Sequence=AAV83778.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NACA Gene

    Alternative splice isoforms for NACA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NACA Gene

Post-translational modifications for NACA Gene

  • Phosphorylation of Thr-159 by GSK3B may promote proteasome mediated degradation (By similarity). Phosphorylation of Ser-43 by ILK during cell adhesion may promote nuclear localization.

No data available for DME Specific Peptides for NACA Gene

Domains & Families for NACA Gene

Gene Families for NACA Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NACA Gene

Suggested Antigen Peptide Sequences for NACA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

E9PAV3

UniProtKB/Swiss-Prot:

NACA_HUMAN :
  • The proline-rich muscle-specific exon 3 contains eighteen approximate 23-AA repeats.
  • Belongs to the NAC-alpha family.
Domain:
  • The proline-rich muscle-specific exon 3 contains eighteen approximate 23-AA repeats.
  • The positively charged inner surface of the NAC-A/B domain is crucial for NACA localization in the nucleus and DNA-binding. This region is blocked from binding nucleic acids in the heterodimeric complex by a helix region in the beta-subunit, it also displays much higher affinity for RNA than DNA.
Family:
  • Belongs to the NAC-alpha family.
genes like me logo Genes that share domains with NACA: view

Function for NACA Gene

Molecular function for NACA Gene

GENATLAS Biochemistry:
nascent polypeptide-associated complex A/1.9.2,with two alternatively spliced isoform,acting as a muscle specific isoform
UniProtKB/Swiss-Prot Function:
Cardiac- and muscle-specific transcription factor. May act to regulate the expression of genes involved in the development of myotubes. Plays a critical role in ventricular cardiomyocyte expansion and regulates postnatal skeletal muscle growth and regeneration. Involved in the organized assembly of thick and thin filaments of myofibril sarcomeres (By similarity).
UniProtKB/Swiss-Prot Function:
Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. Also reduces the inherent affinity of ribosomes for protein translocation sites in the ER membrane (M sites). May act as a specific coactivator for JUN, binding to DNA and stabilizing the interaction of JUN homodimers with target gene promoters.

Phenotypes From GWAS Catalog for NACA Gene

Gene Ontology (GO) - Molecular Function for NACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity NAS --
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with NACA: view
genes like me logo Genes that share phenotypes with NACA: view

Animal Models for NACA Gene

MGI Knock Outs for NACA:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NACA Gene

Localization for NACA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NACA Gene

Cytoplasm. Nucleus.
Cytoplasm. Nucleus. Note=The heterodimer is located mainly in the cytosol, and the homodimer in the nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NACA gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005854 nascent polypeptide-associated complex IEA --
GO:0070062 extracellular exosome IDA --
genes like me logo Genes that share ontologies with NACA: view

Pathways & Interactions for NACA Gene

SuperPathway Contained pathways
1 ERK Signaling
genes like me logo Genes that share pathways with NACA: view

Pathways by source for NACA Gene

1 Qiagen pathway for NACA Gene

SIGNOR curated interactions for NACA Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NACA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006412 translation TAS --
GO:0006810 transport IEA --
GO:0010664 negative regulation of striated muscle cell apoptotic process ISS --
genes like me logo Genes that share ontologies with NACA: view

Drugs & Compounds for NACA Gene

No Compound Related Data Available

Transcripts for NACA Gene

Unigene Clusters for NACA Gene

Nascent polypeptide-associated complex alpha subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NACA Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5:
SP6: -
SP7:

Relevant External Links for NACA Gene

GeneLoc Exon Structure for
NACA
ECgene alternative splicing isoforms for
NACA

Expression for NACA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NACA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NACA Gene



Protein tissue co-expression partners for NACA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NACA Gene:

NACA

SOURCE GeneReport for Unigene cluster for NACA Gene:

Hs.505735

mRNA Expression by UniProt/SwissProt for NACA Gene:

E9PAV3-NACAM_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for NACA Gene

  • Nervous system(4.9)
  • Blood(4.8)
  • Liver(4.8)
  • Intestine(4.6)
  • Pancreas(4.4)
  • Lung(4.1)
  • Skin(4.1)
  • Eye(3.9)
  • Muscle(3.8)
  • Kidney(3.6)
  • Stomach(3.5)
  • Heart(3.2)
  • Bone(3.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with NACA: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NACA Gene

Orthologs for NACA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NACA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NACA 34
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NACA 34
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Naca 33
  • 78.43 (n)
mouse
(Mus musculus)
Mammalia Naca 33 16 34
  • 78.07 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 34 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 18 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 89 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 94 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nacalpha 35 34
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea icd-2 34
  • 57 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EGD2 34
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1556 34
  • 76 (a)
OneToMany
Species where no ortholog for NACA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for NACA Gene

ENSEMBL:
Gene Tree for NACA (if available)
TreeFam:
Gene Tree for NACA (if available)

Paralogs for NACA Gene

Paralogs for NACA Gene

genes like me logo Genes that share paralogs with NACA: view

Variants for NACA Gene

Sequence variations from dbSNP and Humsavar for NACA Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000338432 -- 56,724,601(-) A/G intron_variant
rs1000345190 -- 56,717,552(-) G/T coding_sequence_variant, intron_variant, synonymous_variant
rs1000541241 -- 56,720,014(-) A/T coding_sequence_variant, intron_variant, missense_variant
rs1000587627 -- 56,712,454(-) TTTATTTAT/TTTAT 3_prime_UTR_variant
rs1000881188 -- 56,725,359(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for NACA Gene

Variant ID Type Subtype PubMed ID
esv1234122 CNV deletion 17803354
esv2235195 CNV deletion 18987734
esv22791 CNV loss 19812545
esv2745929 CNV deletion 23290073
nsv1070531 CNV deletion 25765185
nsv482992 CNV gain+loss 15286789
nsv559016 CNV loss 21841781
nsv559017 CNV loss 21841781
nsv559018 CNV loss 21841781
nsv952188 CNV deletion 24416366
nsv976629 CNV duplication 23825009

Variation tolerance for NACA Gene

Residual Variation Intolerance Score: 98.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.33; 90.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NACA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NACA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NACA Gene

Disorders for NACA Gene

MalaCards: The human disease database

(2) MalaCards diseases for NACA Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dermatitis
  • eczema
skeletal muscle cancer
  • malignant tumor of skeletal muscle
- elite association - COSMIC cancer census association via MalaCards
Search NACA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NACA

genes like me logo Genes that share disorders with NACA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NACA Gene

Publications for NACA Gene

  1. NACA is a positive regulator of human erythroid-cell differentiation. (PMID: 15784678) Lopez S … Gomez S (Journal of cell science 2005) 3 4 22 58
  2. Investigation of alpha nascent polypeptide-associated complex functions in a human CD8(+) T cell ex vivo expansion model using antisense oligonucleotides. (PMID: 15196207) Al-Shanti N … Rowbottom AW (Immunology 2004) 3 4 22 58
  3. Integrin-linked kinase regulates the nuclear entry of the c-Jun coactivator alpha-NAC and its coactivation potency. (PMID: 15299025) Quélo I … St-Arnaud R (The Journal of biological chemistry 2004) 3 4 22 58
  4. Activation of the JNK-AP-1 signal transduction pathway is associated with pathogenesis and progression of human osteosarcomas. (PMID: 12689679) Papachristou DJ … Papavassiliou AG (Bone 2003) 3 4 22 58
  5. Crystal structures of NAC domains of human nascent polypeptide-associated complex (NAC) and its αNAC subunit. (PMID: 21203952) Wang L … Rao Z (Protein & cell 2010) 3 4 58

Products for NACA Gene

Sources for NACA Gene

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