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    NACA2 nascent polypeptide associated complex subunit alpha 2 [ Homo sapiens (human) ]

    Gene ID: 342538, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NACA2provided by HGNC
    Official Full Name
    nascent polypeptide associated complex subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:23290
    See related
    Ensembl:ENSG00000253506 MIM:609274; AllianceGenome:HGNC:23290
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANAC; NACAL
    Summary
    Predicted to enable unfolded protein binding activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in nucleus. Predicted to be part of nascent polypeptide-associated complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    all
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    Genomic context

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    See NACA2 in Genome Data Viewer
    Location:
    17q23.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (61590421..61591219, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (62459278..62460076, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (59667782..59668580, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59494097-59494644 Neighboring gene Sharpr-MPRA regulatory region 1503 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:59504513-59505712 Neighboring gene long intergenic non-protein coding RNA 2875 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:59521182-59521392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59529753-59530594 Neighboring gene uncharacterized LOC124904042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59531395-59532276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:59532277-59533157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59539816-59540478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59541142-59541803 Neighboring gene Sharpr-MPRA regulatory region 11492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59553878-59554580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59554581-59555281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59563448-59564310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59564311-59565173 Neighboring gene T-box transcription factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:59591549-59592049 Neighboring gene Sharpr-MPRA regulatory region 7395 Neighboring gene BRCA1 interacting DNA helicase 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:59835525-59836270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12535 Neighboring gene VISTA enhancer hs778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12536 Neighboring gene integrator complex subunit 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. NAC covers ribosome-associated nascent chains thereby forming a protective environment for regions of nascent chains just emerging from the peptidyl transferase center. Wang S, et al. J Cell Biol, 1995 Aug. PMID 7622554, Free PMC Article
    2. The crystal structure of the human nascent polypeptide-associated complex domain reveals a nucleic acid-binding region on the NACA subunit . Liu Y, et al. Biochemistry, 2010 Apr 6. PMID 20214399
    3. Characterization of a novel isoform of alpha-nascent polypeptide-associated complex as IgE-defined autoantigen. Mossabeb R, et al. J Invest Dermatol, 2002 Oct. PMID 12406326
    4. The human skin-associated autoantigen α-NAC activates monocytes and dendritic cells via TLR-2 and primes an IL-12-dependent Th1 response. Hradetzky S, et al. J Invest Dermatol, 2013 Sep. PMID 23657466
    5. The alpha and beta subunit of the nascent polypeptide-associated complex have distinct functions. Beatrix B, et al. J Biol Chem, 2000 Dec 1. PMID 10982809

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Alpha-nac is a potent inducer of a Th1 response via IL12 and TLR2.
      Title: The human skin-associated autoantigen α-NAC activates monocytes and dendritic cells via TLR-2 and primes an IL-12-dependent Th1 response.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    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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    Replication interactions

    Interaction Pubs
    Knockdown of nascent polypeptide-associated complex alpha subunit 2 (NACA2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 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

    Homology

    Clone Names

    • MGC71999

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein targeting to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nascent polypeptide-associated complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    nascent polypeptide-associated complex subunit alpha-2
    Names
    IgE autoantigen alpha-nascent polypeptide-associated complex
    alpha-NAC protein
    hom s 2.01 protein
    nascent polypeptide associated complex alpha subunit 2
    nascent polypeptide-associated complex, alpha polypeptide, 2

    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.

    mRNA and Protein(s)

    1. NM_001426702.1 → NP_001413631.1  nascent polypeptide-associated complex subunit alpha-2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents an alternate allele of the gene on T2T-CHM13 assembly, which has a SNP (rs17610181) at NC_060941.1:62459449 that introduces a premature stop codon. The encoded 196aa protein (isoform 2) is truncated at the C-terminus and is shorter compared to isoform 1.
      Source sequence(s)
      CP068261

    2. NM_199290.4 → NP_954984.1  nascent polypeptide-associated complex subunit alpha-2 isoform 1

      See identical proteins and their annotated locations for NP_954984.1

      Status: VALIDATED

      Source sequence(s)
      AC002994, BC062710
      Consensus CDS
      CCDS11630.1
      UniProtKB/Swiss-Prot
      Q2VIR9, Q9H009
      Related
      ENSP00000427802.1, ENST00000521764.3
      Conserved Domains (2) summary
      cd14415
      Location:174 → 214
      UBA_NACA_NACP1; UBA-like domain found in nascent polypeptide-associated complex subunit alpha (NACA) and putative NACA-like protein (NACP1)
      pfam01849
      Location:82 → 128
      NAC; NAC domain

    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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      61590421..61591219 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      62459278..62460076 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H009.1 GenPept UniProtKB/Swiss-Prot:Q9H009

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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