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

Gene ID: 54522, updated on 5-Jan-2022

Summary

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
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 2021]
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

See ANKRD16 in Genome Data Viewer
Location:
10p15.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (5861616..5889893, complement)
105.20201022 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 nuclear receptor binding factor 2 pseudogene 5 Neighboring gene tRNA-Val (anticodon TAC) 3-1 Neighboring gene ribosomal protein L12 pseudogene 28 Neighboring gene F-box DNA helicase 1 Neighboring gene uncharacterized LOC105376384 Neighboring gene uncharacterized LOC107984200 Neighboring gene interleukin 15 receptor subunit alpha

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies five new breast cancer susceptibility loci.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001009941.3NP_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
    Q6P6B7
    Related
    ENSP00000369434.4, ENST00000380092.8
    Conserved Domains (3) summary
    PHA02875
    Location:75301
    PHA02875; ankyrin repeat protein; Provisional
    sd00045
    Location:172202
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:175304
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_001009943.3NP_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:172202
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:141236
    Ank_2; Ankyrin repeats (3 copies)
  3. NM_019046.3NP_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
    Q6P6B7
    Related
    ENSP00000369436.4, ENST00000380094.10
    Conserved Domains (3) summary
    PHA02875
    Location:75301
    PHA02875; ankyrin repeat protein; Provisional
    sd00045
    Location:172202
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:175304
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    5861616..5889893 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.
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