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    ANKDD1A ankyrin repeat and death domain containing 1A [ Homo sapiens (human) ]

    Gene ID: 348094, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ANKDD1Aprovided by HGNC
    Official Full Name
    ankyrin repeat and death domain containing 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:28002
    See related
    Ensembl:ENSG00000166839 AllianceGenome:HGNC:28002
    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
    Summary
    Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in adrenal (RPKM 13.1), spleen (RPKM 12.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKDD1A in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (64911902..64958691)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (62721187..62768111)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65204101..65251033)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6540 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:65134214-65134737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65134770-65135321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65138202-65138761 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:65138762-65139320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65143675-65144621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65146039-65146607 Neighboring gene pleckstrin homology domain containing O2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65159077-65159756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65186997-65187595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6544 Neighboring gene Sharpr-MPRA regulatory region 6079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65204313-65204856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65207564-65208064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65223351-65224228 Neighboring gene Sharpr-MPRA regulatory region 9291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65239186-65239686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65239687-65240187 Neighboring gene SPG21 abhydrolase domain containing, maspardin Neighboring gene H3K27ac hESC enhancers GRCh37_chr15:65281459-65281960 and GRCh37_chr15:65281961-65282460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9590 Neighboring gene mitochondrial methionyl-tRNA formyltransferase Neighboring gene transmembrane protein 126A pseudogene

    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 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. The Germline Variants rs61757955 and rs34988193 Are Predictive of Survival in Lower Grade Glioma Patients. Chatrath A, et al. Mol Cancer Res, 2019 May. PMID 30651372, Free PMC Article
    2. Hypermethylated gene ANKDD1A is a candidate tumor suppressor that interacts with FIH1 and decreases HIF1α stability to inhibit cell autophagy in the glioblastoma multiforme hypoxia microenvironment. Feng J, et al. Oncogene, 2019 Jan. PMID 30082910, Free PMC Article
    3. New gene functions in megakaryopoiesis and platelet formation. Gieger C, et al. Nature, 2011 Nov 30. PMID 22139419, Free PMC Article
    4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Gupta GD, et al. Cell, 2015 Dec 3. PMID 26638075, Free PMC Article
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results provide evidence that rs34988193 is a deleterious germline variant present in ANKDD1a associated with poor outcomes of patients with low grade glioma.
      Title: The Germline Variants rs61757955 and rs34988193 Are Predictive of Survival in Lower Grade Glioma Patients.
    2. ANKDD1A is a functional tumor suppressor gene, especially in the hypoxia microenvironment. ANKDD1A directly interacts with FIH1 and inhibits the transcriptional activity of HIF1alpha by upregulating FIH1. ANKDD1A decreases the half-life of HIF1alpha by upregulating FIH1, decreases glucose uptake and lactate production, inhibits glioblastoma multiforme (GBM) autophagy, and induces apoptosis in GBM cells under hypoxia
      Title: Hypermethylated gene ANKDD1A is a candidate tumor suppressor that interacts with FIH1 and decreases HIF1α stability to inhibit cell autophagy in the glioblastoma multiforme hypoxia microenvironment.
    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
    New gene functions in megakaryopoiesis and platelet formation.
    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

    • FLJ18078, FLJ25870, MGC120305, MGC120306, MGC120307

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and death domain-containing protein 1A

    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_182703.6 → NP_874362.3  ankyrin repeat and death domain-containing protein 1A

      See identical proteins and their annotated locations for NP_874362.3

      Status: VALIDATED

      Source sequence(s)
      AC103691, AK098736, AK307698, BC042002, BC047571, BC101273, BC101275, BX116779
      Consensus CDS
      CCDS10197.2
      UniProtKB/Swiss-Prot
      Q495B1, Q495B2, Q495B3, Q8N7A0, Q8NBS5
      UniProtKB/TrEMBL
      A0A0C4DGZ7
      Related
      ENSP00000325895.9, ENST00000319580.13
      Conserved Domains (4) summary
      cd00204
      Location:186 → 311
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd01670
      Location:426 → 494
      Death; Death Domain: a protein-protein interaction domain
      pfam12796
      Location:163 → 253
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:260 → 288
      ANK; ANK repeat [structural motif]

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      64911902..64958691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      62721187..62768111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q495B1.2 GenPept UniProtKB/Swiss-Prot:Q495B1

    Gene LinkOut

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

    Chemical Information
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