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    AKNAD1 AKNA domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 254268, updated on 27-Nov-2024

    Summary

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    Official Symbol
    AKNAD1provided by HGNC
    Official Full Name
    AKNA domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:28398
    See related
    Ensembl:ENSG00000162641 AllianceGenome:HGNC:28398
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C1orf62
    Summary
    This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
    Expression
    Restricted expression toward testis (RPKM 5.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See AKNAD1 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (108815901..108858244, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (108849226..108891563, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109358523..109400866, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1429 Neighboring gene fibronectin type III domain containing 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:109288975-109289545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1137 Neighboring gene N-acetylneuraminic acid phosphatase pseudogene Neighboring gene syntaxin binding protein 3 Neighboring gene uncharacterized LOC105378891 Neighboring gene Sharpr-MPRA regulatory region 12963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1138 Neighboring gene spermatogenesis associated 42 Neighboring gene G protein signaling modulator 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109500895-109501396 Neighboring gene chloride channel CLIC like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109503808-109504308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109504309-109504809 Neighboring gene Sharpr-MPRA regulatory region 7966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1140 Neighboring gene NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3-like Neighboring gene WD repeat domain 47

    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. CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations. Dajani R, et al. Sci Rep, 2015 Aug 21. PMID 26292654, Free PMC Article
    2. Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men. Irvin MR, et al. Pharmacogenet Genomics, 2011 Dec. PMID 21897333, Free PMC Article
    3. Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. Low SK, et al. Cancer Sci, 2013 Aug. PMID 23648065, Free PMC Article
    4. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, Free PMC Article
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. a significant copy number variation in gene AKNAD1 associated with type-2 diabetes, was identified and experimentally validated.
      Title: CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations.
    2. 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
    Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
    EBI GWAS Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Potential readthrough

    Included gene: CLCC1

    Homology

    Clone Names

    • MGC26989

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein AKNAD1

    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.

    Genomic

    1. NG_032762.1 RefSeqGene

      Range
      6149..47342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152763.5 → NP_689976.2  protein AKNAD1

      See identical proteins and their annotated locations for NP_689976.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AL449266, AL832216
      Consensus CDS
      CCDS791.2
      UniProtKB/Swiss-Prot
      B9EK62, Q5T1N0, Q5T1N1, Q8N990, Q8NCN9
      UniProtKB/TrEMBL
      Q5T1N2
      Related
      ENSP00000359018.3, ENST00000370001.8
      Conserved Domains (1) summary
      pfam12443
      Location:327 → 421
      AKNA; AT-hook-containing transcription factor

    RNA

    1. NR_049760.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5 ' exon and lacks several internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK095517, AL449266
      Related
      ENST00000474186.5

    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
      108815901..108858244 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      108849226..108891563 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T1N1.3 GenPept UniProtKB/Swiss-Prot:Q5T1N1

    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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