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    NACAD NAC alpha domain containing [ Homo sapiens (human) ]

    Gene ID: 23148, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NACADprovided by HGNC
    Official Full Name
    NAC alpha domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:22196
    See related
    Ensembl:ENSG00000136274 MIM:619419; AllianceGenome:HGNC:22196
    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
    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, Dec 2024]
    Expression
    Biased expression in brain (RPKM 25.2), ovary (RPKM 5.5) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NACAD in Genome Data Viewer
    Location:
    7p13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (45080437..45088969, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (45241246..45249778, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (45120036..45128568, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:45025394-45026140 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:45026141-45026888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:45030540-45031094 Neighboring gene uncharacterized LOC102723334 Neighboring gene small nucleolar RNA host gene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25966 Neighboring gene small nucleolar RNA, H/ACA box 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18162 Neighboring gene CCM2 scaffold protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:45112087-45112746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:45112747-45113406 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99227 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:45143162-45143329 Neighboring gene transforming growth factor beta regulator 4 Neighboring gene small nucleolar RNA, H/ACA box 5A Neighboring gene small nucleolar RNA, H/ACA box 5C

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1997 Apr 28. PMID 9205841
    2. Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets. Mihalič F, et al. Nat Commun, 2023 Sep 13. PMID 37704626, Free PMC Article
    3. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, Free PMC Article
    4. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
    5. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0363

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    NAC-alpha domain-containing protein 1
    NP_001139806.1
    XP_006715737.1
    XP_054213645.1

    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.

    mRNA and Protein(s)

    1. NM_001146334.2 → NP_001139806.1  NAC-alpha domain-containing protein 1

      See identical proteins and their annotated locations for NP_001139806.1

      Status: VALIDATED

      Source sequence(s)
      AB002361, AC013416, BM680676, BM728120, EG328798
      Consensus CDS
      CCDS47582.1
      UniProtKB/Swiss-Prot
      O15069
      Related
      ENSP00000420477.2, ENST00000490531.3
      Conserved Domains (3) summary
      COG1308
      Location:1415 → 1562
      EGD2; Transcription factor homologous to NACalpha-BTF3 [Transcription]
      cd14416
      Location:1519 → 1562
      UBA_NACAD; UBA-like domain found in nascent polypeptide-associated complex subunit alpha domain-containing protein 1 (NACAD)
      pfam01849
      Location:1416 → 1469
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      45080437..45088969 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715674.4 → XP_006715737.1  NAC-alpha domain-containing protein 1 isoform X1

      Conserved Domains (3) summary
      COG1308
      Location:1202 → 1349
      EGD2; Transcription factor homologous to NACalpha-BTF3 [Transcription]
      cd14416
      Location:1306 → 1349
      UBA_NACAD; UBA-like domain found in nascent polypeptide-associated complex subunit alpha domain-containing protein 1 (NACAD)
      pfam01849
      Location:1203 → 1256
      NAC; NAC domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      45241246..45249778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357670.1 → XP_054213645.1  NAC-alpha domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15069.3 GenPept UniProtKB/Swiss-Prot:O15069

    Gene LinkOut

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

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