Human Gene NACA (ENST00000393891.8) from GENCODE V44
  Description: Homo sapiens nascent polypeptide associated complex subunit alpha (NACA), transcript variant 3, mRNA. (from RefSeq NM_005594)
RefSeq Summary (NM_005594): 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].
Gencode Transcript: ENST00000393891.8
Gencode Gene: ENSG00000196531.14
Transcript (Including UTRs)
   Position: hg38 chr12:56,712,435-56,725,267 Size: 12,833 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr12:56,712,538-56,724,521 Size: 11,984 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 09:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:56,712,435-56,725,267)mRNA (may differ from genome)Protein (215 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Nascent polypeptide-associated complex subunit alpha; Short=NAC-alpha; AltName: Full=Alpha-NAC; AltName: Allergen=Hom s 2;
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.
SUBUNIT: Interacts with TBP and JUN (By similarity). Part of the nascent polypeptide-associated complex (NAC), consisting of NACA and BTF3. NAC associates with ribosomes through the BTF3 subunit. Both subunits can contact nascent polypeptide chains. Interacts with ASFV protein H339R.
INTERACTION: P40222:TXLNA; NbExp=2; IntAct=EBI-712216, EBI-359793;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Also found in nucleus.
TISSUE SPECIFICITY: Ubiquitously expressed.
PTM: Phosphorylation of Ser-43 by ILK during cell adhesion may promote nuclear localization. Phosphorylation of Thr-159 by GSK3B may promote proteasome mediated degradation (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR.
ALLERGEN: Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations.
SIMILARITY: Belongs to the NAC-alpha family.
SIMILARITY: Contains 1 NAC-A/B (NAC-alpha/beta) domain.
SIMILARITY: Contains 1 UBA domain.
SEQUENCE CAUTION: Sequence=AAV83778.1; Type=Erroneous initiation;

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: NACA
Diseases sorted by gene-association score: atopic dermatitis (6), dermatitis (6), skeletal muscle cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 126.67 RPKM in Ovary
Total median expression: 3053.87 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -118.50308-0.385 Picture PostScript Text
3' UTR -21.00103-0.204 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002715 - Nas_poly-pep-assoc_cplx
IPR016641 - Nas_poly-pep-assoc_cplx_asu

Pfam Domains:
PF01849 - NAC domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3LKX - X-ray MuPIT 3MCB - X-ray MuPIT 3MCE - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q13765
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding

Biological Process:
GO:0003231 cardiac ventricle development
GO:0006351 transcription, DNA-templated
GO:0006412 translation
GO:0010664 negative regulation of striated muscle cell apoptotic process
GO:0015031 protein transport
GO:0016032 viral process
GO:0043403 skeletal muscle tissue regeneration
GO:0048633 positive regulation of skeletal muscle tissue growth
GO:0048742 regulation of skeletal muscle fiber development
GO:0061384 heart trabecula morphogenesis
GO:1901227 negative regulation of transcription from RNA polymerase II promoter involved in heart development
GO:1901228 positive regulation of transcription from RNA polymerase II promoter involved in heart development
GO:2000138 positive regulation of cell proliferation involved in heart morphogenesis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005854 nascent polypeptide-associated complex
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  AK223085 - Homo sapiens mRNA for nascent-polypeptide-associated complex alpha polypeptide variant, clone: KAT03301.
AK096699 - Homo sapiens cDNA FLJ39380 fis, clone PERIC2000387, weakly similar to Mus musculus transcriptional activator alpha-NAC (Naca) gene.
AK293209 - Homo sapiens cDNA FLJ53704 complete cds, moderately similar to Nascent polypeptide-associated complex subunit alpha.
AK090650 - Homo sapiens cDNA FLJ33331 fis, clone BRACE2000489, highly similar to Nascent polypeptide-associated complex subunit alpha.
AY034001 - Homo sapiens NAC alpha mRNA, complete cds.
BC106041 - Homo sapiens nascent polypeptide-associated complex alpha subunit, mRNA (cDNA clone IMAGE:2986158), complete cds.
AF054187 - Homo sapiens alpha NAC mRNA, complete cds.
X80909 - H.sapiens alpha NAC mRNA.
AY911673 - Homo sapiens nascent polypeptide-associated complex alpha subunit (NACA) mRNA, complete cds.
BC105120 - Homo sapiens nascent polypeptide-associated complex alpha subunit, mRNA (cDNA clone IMAGE:8144123), complete cds.
BC105122 - Homo sapiens nascent polypeptide-associated complex alpha subunit, mRNA (cDNA clone IMAGE:8144125), complete cds.
AK311904 - Homo sapiens cDNA, FLJ92170, Homo sapiens nascent-polypeptide-associated complex alpha polypeptide (NACA), mRNA.
AB463919 - Synthetic construct DNA, clone: pF1KB8216, Homo sapiens NACA gene for nascent polypeptide-associated complex alpha subunit, without stop codon, in Flexi system.
CR450295 - Homo sapiens full open reading frame cDNA clone RZPDo834C011D for gene NACA, nascent-polypeptide-associated complex alpha polypeptide; complete cds; without stopcodon.
AY605660 - Homo sapiens HSD48 mRNA, partial cds.
JD020595 - Sequence 1619 from Patent EP1572962.
JD020596 - Sequence 1620 from Patent EP1572962.
JD030251 - Sequence 11275 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000393891.1, ENST00000393891.2, ENST00000393891.3, ENST00000393891.4, ENST00000393891.5, ENST00000393891.6, ENST00000393891.7, HSD48, NACA_HUMAN, NM_005594, Q13765, Q3KQV4, Q53A18, Q53G46, uc001sly.1, uc001sly.2, uc001sly.3
UCSC ID: ENST00000393891.8
RefSeq Accession: NM_005594
Protein: Q13765 (aka NACA_HUMAN)
CCDS: CCDS31837.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.