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

Gene ID: 254268, updated on 5-Mar-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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Location:
1p13.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (108815901..108858244, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (108849226..108891563, complement)
105.20220307 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)

Genotypes

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

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_2023_10

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.

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