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    NKAIN3 sodium/potassium transporting ATPase interacting 3 [ Homo sapiens (human) ]

    Gene ID: 286183, updated on 3-Apr-2024

    Summary

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    Official Symbol
    NKAIN3provided by HGNC
    Official Full Name
    sodium/potassium transporting ATPase interacting 3provided by HGNC
    Primary source
    HGNC:HGNC:26829
    See related
    Ensembl:ENSG00000185942 MIM:612872; AllianceGenome:HGNC:26829
    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
    FAM77D; UG0898H09; NKAIN3-IT1
    Summary
    NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8q12.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (62248854..62999652)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (62672922..63424229)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (63161413..63912211)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:63076864-63078063 Neighboring gene asparaginyl-tRNA synthetase 1 pseudogene 2 Neighboring gene serine/threonine-protein kinase PLK1-like Neighboring gene uncharacterized LOC124901952 Neighboring gene translation machinery-associated protein 7-like Neighboring gene NANOG hESC enhancer GRCh37_chr8:63475220-63475797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19238 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:63583430-63583618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27448 Neighboring gene MPRA-validated peak7049 silencer Neighboring gene SRSF protein kinase 2-like Neighboring gene X-ray repair cross complementing 6 pseudogene 4 Neighboring gene SRSF protein kinase 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27449 Neighboring gene uncharacterized LOC107986946 Neighboring gene NANOG hESC enhancer GRCh37_chr8:63922378-63923010 Neighboring gene gamma-glutamyl hydrolase

    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. Long Non-Coding RNAs Dysregulation and Function in Glioblastoma Stem Cells. Zhang X, et al. Noncoding RNA, 2015 Jun 3. PMID 29861416, Free PMC Article
    2. Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men. Major JM, et al. J Nutr, 2012 May. PMID 22437554, Free PMC Article
    3. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Carvill GL, et al. Neurology, 2014 Apr 8. PMID 24623842, Free PMC Article
    4. A novel family of transmembrane proteins interacting with beta subunits of the Na,K-ATPase. Gorokhova S, et al. Hum Mol Genet, 2007 Oct 15. PMID 17606467
    5. Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis. Bunyavanich S, et al. BMC Med Genomics, 2014 Aug 2. PMID 25085501, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog
    Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39198, FLJ39630, FLJ45346

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of sodium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3
    Names
    NKAIN3 intronic transcript
    Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 3
    Na+/K+ transporting ATPase interacting 3
    family with sequence similarity 77, member D

    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_001304533.3 → NP_001291462.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001291462.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC018861, AC023095, AC087358, AC090577, AC091554, AC120042
      Consensus CDS
      CCDS94296.1
      UniProtKB/Swiss-Prot
      Q8N8D7
      UniProtKB/TrEMBL
      A0A6Q8PFP9
      Related
      ENSP00000501908.1, ENST00000623646.3
      Conserved Domains (1) summary
      pfam05640
      Location:10 → 198
      NKAIN; Na,K-Atpase Interacting protein

    2. NM_001410914.1 → NP_001397843.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC018861, AC023095, AC087358, AC090577, AC091554, AC120042
      Consensus CDS
      CCDS94295.1
      UniProtKB/TrEMBL
      A0A6Q8PGC9
      Related
      ENSP00000502179.1, ENST00000675749.1

    RNA

    1. NR_130764.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons and contains two alternate exons at the 3' end, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC023095, AC120042, AK096949
      Related
      ENST00000523211.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      62248854..62999652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013359.2 → XP_016868848.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 isoform X1

      UniProtKB/Swiss-Prot
      Q8N8D7
      UniProtKB/TrEMBL
      A0A6Q8PFE2
      Related
      ENSP00000501734.1, ENST00000519049.6

    2. XM_011517512.3 → XP_011515814.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PFI1, B4DSD2
      Related
      ENSP00000501789.1, ENST00000674732.1
      Conserved Domains (1) summary
      pfam05640
      Location:10 → 157
      NKAIN; Na,K-Atpase Interacting protein

    3. XM_047421721.1 → XP_047277677.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 isoform X3

      Related
      ENST00000676150.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      62672922..63424229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360349.1 → XP_054216324.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PFE2

    2. XM_054360350.1 → XP_054216325.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PFI1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001039769.2: Suppressed sequence

      Description
      NM_001039769.2: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.

    2. NM_173688.2: Suppressed sequence

      Description
      NM_173688.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    3. NR_027378.1: Suppressed sequence

      Description
      NR_027378.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8D7.1 GenPept UniProtKB/Swiss-Prot:Q8N8D7

    Gene LinkOut

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

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