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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
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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

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. 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

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