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    NKAIN1 sodium/potassium transporting ATPase interacting 1 [ Homo sapiens (human) ]

    Gene ID: 79570, updated on 28-Oct-2024

    Summary

    Official Symbol
    NKAIN1provided by HGNC
    Official Full Name
    sodium/potassium transporting ATPase interacting 1provided by HGNC
    Primary source
    HGNC:HGNC:25743
    See related
    Ensembl:ENSG00000084628 MIM:612871; AllianceGenome:HGNC:25743
    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
    FAM77C
    Summary
    NKAIN1 is a member of a family of mammalian proteins with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]
    Expression
    Biased expression in adrenal (RPKM 5.0), brain (RPKM 4.0) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NKAIN1 in Genome Data Viewer
    Location:
    1p35.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (31179745..31239887, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (31031899..31092102, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (31652592..31712734, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31583561-31584502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31585445-31586385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31595033-31595534 Neighboring gene ribosomal protein L21 pseudogene 22 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31626486-31627123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31627124-31627760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 565 Neighboring gene uncharacterized LOC107984935 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:31628398-31629033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31636659-31637158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31639725-31640224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 566 Neighboring gene Sharpr-MPRA regulatory region 5533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31671341-31671841 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:31688981-31689480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31695101-31695601 Neighboring gene small nuclear ribonucleoprotein U5 subunit 40 Neighboring gene MPRA-validated peak156 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 641 Neighboring gene zinc finger CCHC-type containing 17 Neighboring gene Sharpr-MPRA regulatory region 7682 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:31827736-31827903 Neighboring gene fatty acid binding protein 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Phenotypes

    EBI GWAS Catalog

    Description
    NKAIN1-SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12650

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_024522.3NP_078798.2  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 precursor

      See identical proteins and their annotated locations for NP_078798.2

      Status: VALIDATED

      Source sequence(s)
      AI884789, AK022712, AK298874, AK299507, AL832547, DB499136
      Consensus CDS
      CCDS339.2
      UniProtKB/Swiss-Prot
      A2VDJ3, B7Z5F5, B7Z5W9, Q4KMZ8, Q9H9M7
      Related
      ENSP00000362841.2, ENST00000373736.7
      Conserved Domains (1) summary
      pfam05640
      Location:10206
      NKAIN; Na,K-Atpase Interacting protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      31179745..31239887 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      31031899..31092102 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)