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    ANKRD16 ankyrin repeat domain 16 [ Homo sapiens (human) ]

    Gene ID: 54522, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ANKRD16provided by HGNC
    Official Full Name
    ankyrin repeat domain 16provided by HGNC
    Primary source
    HGNC:HGNC:23471
    See related
    Ensembl:ENSG00000134461 MIM:618017; AllianceGenome:HGNC:23471
    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 tRNA modification. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.6), ovary (RPKM 2.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD16 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (5861616..5889893, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (5862155..5890421, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (5903579..5931856, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene GDP dissociation inhibitor 2 Neighboring gene uncharacterized LOC124902367 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:5854819-5855411 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:5855412-5856004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2939 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2940 Neighboring gene MPRA-validated peak856 silencer Neighboring gene tRNA-Val (anticodon TAC) 3-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2943 Neighboring gene ribosomal protein L12 pseudogene 28 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2092 Neighboring gene F-box DNA helicase 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:5958854-5960053 Neighboring gene MPRA-validated peak859 silencer Neighboring gene uncharacterized LOC105376384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:5987078-5987636 Neighboring gene uncharacterized LOC107984200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6006433-6006934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6006935-6007434 Neighboring gene interleukin 15 receptor subunit alpha

    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. Publisher Correction: ANKRD16 prevents neuron loss caused by an editing-defective tRNA synthetase. Vo MN, et al. Nature, 2018 Aug. PMID 29925958
    2. ANKRD16 prevents neuron loss caused by an editing-defective tRNA synthetase. Vo MN, et al. Nature, 2018 May. PMID 29769718, Free PMC Article
    3. Genome-wide association study identifies five new breast cancer susceptibility loci. Turnbull C, et al. Nat Genet, 2010 Jun. PMID 20453838, Free PMC Article
    4. WDR76 is a RAS binding protein that functions as a tumor suppressor via RAS degradation. Jeong WJ, et al. Nat Commun, 2019 Jan 17. PMID 30655611, Free PMC Article
    5. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genome-wide association study identifies five new breast cancer susceptibility loci.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in tRNA modification ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 16

    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_001009941.3 → NP_001009941.1  ankyrin repeat domain-containing protein 16 isoform a

      See identical proteins and their annotated locations for NP_001009941.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AL137186, BC062346
      Consensus CDS
      CCDS31136.1
      UniProtKB/Swiss-Prot
      A6NEF0, F8WEI4, Q6P6B7, Q9NT01
      Related
      ENSP00000369434.4, ENST00000380092.8
      Conserved Domains (3) summary
      PHA02875
      Location:75 → 301
      PHA02875; ankyrin repeat protein; Provisional
      sd00045
      Location:172 → 202
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:175 → 304
      Ank_2; Ankyrin repeats (3 copies)

    2. NM_001009943.3 → NP_001009943.1  ankyrin repeat domain-containing protein 16 isoform c

      See identical proteins and their annotated locations for NP_001009943.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (c) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AI738771, AL137186, BC062346
      Consensus CDS
      CCDS31137.1
      UniProtKB/Swiss-Prot
      Q6P6B7
      Related
      ENSP00000352361.6, ENST00000191063.8
      Conserved Domains (2) summary
      sd00045
      Location:172 → 202
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:141 → 236
      Ank_2; Ankyrin repeats (3 copies)

    3. NM_019046.3 → NP_061919.1  ankyrin repeat domain-containing protein 16 isoform a

      See identical proteins and their annotated locations for NP_061919.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AL137186, AL137614, AL596094, BC017324, BC062346
      Consensus CDS
      CCDS31136.1
      UniProtKB/Swiss-Prot
      A6NEF0, F8WEI4, Q6P6B7, Q9NT01
      Related
      ENSP00000369436.4, ENST00000380094.10
      Conserved Domains (3) summary
      PHA02875
      Location:75 → 301
      PHA02875; ankyrin repeat protein; Provisional
      sd00045
      Location:172 → 202
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:175 → 304
      Ank_2; Ankyrin repeats (3 copies)

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      5861616..5889893 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      5862155..5890421 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001009942.2: Suppressed sequence

      Description
      NM_001009942.2: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P6B7.1 GenPept UniProtKB/Swiss-Prot:Q6P6B7

    Gene LinkOut

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

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