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NACA Gene

protein-coding   GIFtS: 57
GCID: GC12M057106

Nascent Polypeptide-Associated Complex Alpha Subunit

(Previous name: nascent-polypeptide-associated complex alpha polypeptide)
  See NACA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nascent Polypeptide-Associated Complex Alpha Subunit1 2     NACA12
Nascent-Polypeptide-Associated Complex Alpha Polypeptide1 2     Nascent Polypeptide-Associated Complex Subunit Alpha2
Alpha-NAC, Muscle-Specific Form2 3     Alpha-NAC3
NAC-alpha2 3     Allergen Hom S 23
skNAC2 3     

External Ids:    HGNC: 76291   Entrez Gene: 46662   Ensembl: ENSG000001965317   OMIM: 6012345   UniProtKB: E9PAV33   
UniProtKB: Q137653   

Export aliases for NACA gene to outside databases

Previous GC identifers: GC12M057078 GC12M057330 GC12M056820 GC12M055392 GC12M054144


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NACA Gene:
The protein encoded by this gene associates with basic transcription factor 3 (BTF3) to form the nascent
polypeptide-associated complex (NAC). NAC binds to nascent proteins as they emerge from the ribosome, blocking
interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic
reticulum. However, nascent proteins with an exposed signal peptide will not be bound by the encoded protein,
enabling them to bind the SRP and enter the secretory pathway. This protein has been determined to be an IgE
autoantigen in atopic dermatitis patients. Several transcript variants encoding two different isoforms have been
found for this gene. (provided by RefSeq, Oct 2011)

GeneCards Summary for NACA Gene:
NACA (nascent polypeptide-associated complex alpha subunit) is a protein-coding gene. Diseases associated with NACA include lethal midline granuloma, and atopic dermatitis. GO annotations related to this gene include TBP-class protein binding and transcription coactivator activity. An important paralog of this gene is NACAD.

UniProtKB/Swiss-Prot: NACA_HUMAN, Q13765
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

Gene Wiki entry for NACA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NACA gene promoter:
         GR   GR-beta   ATF-2   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNACA promoter sequence
   Search Chromatin IP Primers for NACA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NACA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q23-q24.1   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q23-q24.1

NACA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NACA gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M057106:  view genomic region     (about GC identifiers)

Start:
57,106,211 bp from pter      End:
57,125,412 bp from pter
Size:
19,202 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NACAM_HUMAN, E9PAV3 (See protein sequence)
Recommended Name: Nascent polypeptide-associated complex subunit alpha, muscle-specific form  
Size: 2078 amino acids; 205422 Da
Subunit: Interacts (via PXLXP motif) with the muscle-restricted histone methyltransferase SMYD1 (via MYND-type
zinc finger) (By similarity)
Alternative splicing: 3 isoforms:  E9PAV3-1   Q13765-1   E9PAV3-2   (No experimental confirmation available)

UniProtKB/Swiss-Prot: NACA_HUMAN, Q13765 (See protein sequence)

Recommended Name: Nascent polypeptide-associated complex subunit alpha  
Size: 215 amino acids; 23384 Da
Subunit: 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
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
Sequence caution: Sequence=AAV83778.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for NACA:
3LKX (3D)        3MCB (3D)        3MCE (3D)    
Secondary accessions: A8MTN7 B2R4P8 F8VU71 Q3KQV4 Q53A18 Q53G46
Alternative splicing: 3 isoforms:  Q13765-1   E9PAV3-2   E9PAV3-1   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NACA: NX_Q13765

Explore proteomics data for NACA at MOPED

Post-translational modifications: 

  • 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 localization1
  • Ubiquitination2 at Lys100, Lys142
  • Modification sites at PhosphoSitePlus

  • See NACA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001106673.1  NP_001106674.2  

    ENSEMBL proteins: 
     ENSP00000448039   ENSP00000448035   ENSP00000349212   ENSP00000447821   ENSP00000377469  
     ENSP00000447705   ENSP00000446801   ENSP00000446745   ENSP00000447133   ENSP00000450383  
     ENSP00000446933   ENSP00000447764   ENSP00000447207   ENSP00000447666   ENSP00000403817  

    NACA Human Recombinant Protein Products:

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    Novus Biologicals NACA Proteins
    Novus Biologicals NACA Lysates
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    ProSpec Recombinant Protein for NACA
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online antibodies for NACA (6 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR016641 EGD2/NACA
     IPR002715 Nas_poly-pep-assoc_cplx_dom

    Graphical View of Domain Structure for InterPro Entry E9PAV3
    Graphical View of Domain Structure for InterPro Entry Q13765

    ProtoNet protein and cluster: E9PAV3

    UniProtKB/Swiss-Prot: NACAM_HUMAN, E9PAV3
    Domain: The proline-rich muscle-specific exon 3 contains eighteen approximate 23-AA repeats
    Similarity: Contains 1 NAC-A/B (NAC-alpha/beta) domain
    Similarity: Contains 1 UBA domain

    UniProtKB/Swiss-Prot: NACA_HUMAN, Q13765
    Domain: 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
    Similarity: Belongs to the NAC-alpha family
    Similarity: Contains 1 NAC-A/B (NAC-alpha/beta) domain
    Similarity: Contains 1 UBA domain


    Find genes that share domains with NACA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NACAM_HUMAN, E9PAV3
    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: NACA_HUMAN, Q13765
    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

         Genatlas biochemistry entry for NACA:
    nascent polypeptide-associated complex A/1.9.2,with two alternatively spliced isoform,acting as a muscle specific
    isoform

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003713transcription coactivator activity ISS--
    GO:0005515protein binding IPI--
    GO:0017025TBP-class protein binding ISS--
         
    Find genes that share ontologies with NACA           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for NACA:
     Decreased cell number, increas  Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Naca):
     cardiovascular system  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     mortality/aging  muscle  skeleton 

    Find genes that share phenotypes with NACA           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NACA

    miRNA
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    miRTarBase miRNAs that target NACA:
    hsa-mir-149-5p (MIRT045676), hsa-mir-17-3p (MIRT050758), hsa-let-7b-5p (MIRT052206), hsa-mir-671-5p (MIRT039260), hsa-mir-615-3p (MIRT039822), hsa-mir-877-3p (MIRT037036), hsa-mir-16-5p (MIRT032033), hsa-mir-877-5p (MIRT037224)

    Block miRNA regulation of human, mouse, rat NACA using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidNACA 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NACAM_HUMAN, E9PAV3: Cytoplasm (By similarity). Nucleus (By similarity)
    NACA_HUMAN, Q13765: Cytoplasm. Nucleus. Note=The heterodimer is located mainly in the cytosol, and the homodimer
    in the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    endoplasmic reticulum1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0005854nascent polypeptide-associated complex TAS8047162
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with NACA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NACA About    
    See pathways by source

    SuperPathContained pathways About
    1ERK Signaling
    ILK Signaling0.49

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for NACA
        ILK Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NACA
    Interactions:

        GeneGlobe Interaction Network for NACA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NACA (Q137651, 2, 3 ENSP000004038174) via UniProtKB, MINT, STRING, and/or I2D (see all 127)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TXLNAP402221, 3, ENSP000003627114EBI-712216,EBI-359793 I2D: score=1 STRING: ENSP00000362711
    APLP1P516932, 3MINT-64152 I2D: score=4 
    CCDC90BQ9GZT62, 3MINT-64154 I2D: score=4 
    FUNDC2Q9BWH22, 3MINT-64155 I2D: score=4 
    IGSF21Q96ID52, 3MINT-64153 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003231cardiac ventricle development ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006412translation TAS8047162
    GO:0010664negative regulation of striated muscle cell apoptotic process ISS--

    Find genes that share ontologies with NACA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NACA



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NACA gene (4 alternative transcripts): 
    NM_001113202.1  NM_001113203.2  NM_001113201.1  NM_005594.4  

    Unigene Cluster for NACA:

    Nascent polypeptide-associated complex alpha subunit
    Hs.505735  [show with all ESTs]
    Unigene Representative Sequence: NM_001113203
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000550920 ENST00000550952 ENST00000356769 ENST00000552540(uc001slz.2)
    ENST00000393891(uc001sly.2) ENST00000548386 ENST00000548563 ENST00000546392
    ENST00000547914 ENST00000546410 ENST00000549259 ENST00000551775 ENST00000552055
    ENST00000546862 ENST00000549855 ENST00000551793 ENST00000551520 ENST00000550343

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    Additional mRNA sequence: 

    AF054187.1 AK090650.1 AK096699.1 AK223085.1 AK293209.1 AK311904.1 AY034001.1 AY605660.1 
    AY911673.1 BC105120.1 BC105122.1 BC106041.1 CR450295.1 NR_045277.1 X80909.1 

    Selected DOTS entries (see all 75):

    DT.100889874  DT.91783886  DT.91733258  DT.97868164  DT.91840150  DT.91718355  DT.95228035  DT.121209295 
    DT.100889890  DT.452984  DT.100889895  DT.91783876  DT.121209326  DT.121209266  DT.121209229  DT.95228084 
    DT.121232286  DT.100889896  DT.92056217  DT.121209132  DT.95228072  DT.121209279  DT.86993099  DT.100889884 

    Selected AceView cDNA sequences (see all 1512):

    CR603573 BI858408 BF857436 BF093885 BE622578 BM850909 BP870848 BU182929 
    CR624198 CB145420 BQ927672 BF062248 BE277036 BU931152 BF831024 BG034283 
    CR626308 AA328389 T54741 BM855187 CR595197 BM543012 AW406434 CD677442 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NACA (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for NACA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NACA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCACAAGCAA
    NACA Expression
    About this image

    NACA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NACA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.505735

    UniProtKB/Swiss-Prot: NACA_HUMAN, Q13765
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NACA gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Naca1 , 5 nascent polypeptide-associated complex alpha polypeptide1, 5 78.07(n)1
    69.86(a)1
      10 (76.39 cM)5
    179381  NM_001113199.11  NP_001106670.11 
     1280353465 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    89(a)
    1 → many
    LGE22C19W28_E50C23(943950-953591)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    94(a)
    1 → many
    GL343463.1(77-8314)
    fruit fly
    (Drosophila melanogaster)
    Insecta Nacalpha3   -- 58(a)   2 49D2   --
    worm
    (Caenorhabditis elegans)
    Secernentea icd-26
    Protein ICD-2, isoform a (icd-2) mRNA, complete cd...
    57(a)
    1 → many
    I(535791-536670) WBGene00022042
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes EGD26
    Alpha subunit of the heteromeric nascent polypepti...
    36(a)
    1 → many
    VIII(487712-488236) YHR193C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NACA gene
    NACAD2  NACA22  
    3 SIMAP similar genes for NACA using alignment to 10 protein entries:     NACAM_HUMAN (see all proteins):
    NACA2    NACAP1    NACAD

    Find genes that share paralogs with NACA           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for NACA (see all 7)
    PGOHUM00000238640 PGOHUM00000239545 PGOHUM00000261350 PGOHUM00000245476 PGOHUM00000250798


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for NACA (see all 460)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1807137661,2
    --56939922(+) CTGTCC/GCCCAG 3 -- int10--------
    rs1507755851,2
    C--56940044(+) CGCCCA/GGCTAA 3 -- int10--------
    rs28604821,2
    C,A,H--56940082(+) TTTCAC/ACGTGT 3 -- int17Minor allele frequency- A:0.08NA WA CSA 13
    rs116135391,2
    H--56940100(+) gatggG/Tctcaa 3 -- int10--------
    rs1499052811,2
    --56940131(+) CCCCCA/TCCTTG 3 -- int10--------
    rs1857664171,2
    --56940206(+) GGTATA/GAAGTC 3 -- int10--------
    rs1902916071,2
    --56940336(+) GCGGGA/GAAGAG 3 -- int10--------
    rs1119914821,2
    C--56940430(+) GTTACG/TCCTTT 3 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.50NA 2
    rs1821157731,2
    C--56940526(+) ATCAGA/GAGAAT 3 -- int10--------
    rs794074071,2
    C,F--56940528(+) CAGGAG/TAATTC 3 -- int11Minor allele frequency- T:0.03EA 120

    HapMap Linkage Disequilibrium report for NACA (57106211 - 57125412 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NACA:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745929CNV Deletion23290073
    esv1234122CNV Deletion17803354
    esv2235195CNV Deletion18987734
    esv22791CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NACA
    DNA2.0 Custom Variant and Variant Library Synthesis for NACA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601234    OMIM disorders: --

    3 diseases for NACA:    
    About MalaCards
    lethal midline granuloma    atopic dermatitis    dermatitis

    1 disease from the University of Copenhagen DISEASES database for NACA:
    Lethal midline granuloma

    Find genes that share disorders with NACA           About GenesLikeMe

    2 Novoseek inferred disease relationships for NACA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hepatitis b 10.4 1 15986874 (1)
    tumors 0 1 9202657 (1)


    Export disorders for NACA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NACA gene, integrated from 10 sources (see all 92):
    (articles sorted by number of sources associating them with NACA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NACA is a positive regulator of human erythroid-cell differentiation. (PubMed id 15784678)1, 2, 9 Lopez S....Gomez S. (J. Cell Sci. 2005)
    2. Investigation of alpha nascent polypeptide-associated complex functions in a human CD8(+) T cell ex vivo expansion model using antisense oligonucleotides. (PubMed id 15196207)1, 2, 9 Al-Shanti N.... Rowbottom A.W. (Immunology 2004)
    3. Activation of the JNK-AP-1 signal transduction pathway is associated with pathogenesis and progression of human osteosarcomas. (PubMed id 12689679)1, 2, 9 Papachristou D.J....Papavassiliou A.G. (Bone 2003)
    4. The crystal structure of the human nascent polypeptide-associated complex domain reveals a nucleic acid-binding region on the NACA subunit . (PubMed id 20214399)1, 2 Liu Y....Teng M. (Biochemistry 2010)
    5. Emergence of young human genes after a burst of retroposition in primates. (PubMed id 16201836)1, 2 Marques A.C.... Kaessmann H. (PLoS Biol. 2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The alpha-chain of the nascent polypeptide-associated complex binds to and regulates FADD function. (PubMed id 12684039)1, 2 Stilo R.... Vito P. (Biochem. Biophys. Res. Commun. 2003)
    9. Novel products of the HuD, HuC, NNP-1 and alpha-internexin genes identified by autologous antibody screening of a pediatric neuroblastoma library. (PubMed id 12209604)1, 2 Behrends U.... Mautner J.M. (Int. J. Cancer 2002)
    10. The alpha and beta subunit of the nascent polypeptide-associated complex have distinct functions. (PubMed id 10982809)1, 2 Beatrix B.... Wiedmann M. (J. Biol. Chem. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4666 HGNC: 7629 AceView: NACA Ensembl:ENSG00000196531 euGenes: HUgn4666
    ECgene: NACA H-InvDB: NACA

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NACA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NACA Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NACA gene:
    Search GeneIP for patents involving NACA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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