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

Gene ID: 54522, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 3.6), ovary (RPKM 2.9) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (5861616..5889893, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (5862155..5890421, complement)
105.20220307 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 (12) 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)

Genotypes

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_2023_10

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

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