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ANKUB1 ankyrin repeat and ubiquitin domain containing 1 [ Homo sapiens (human) ]

Gene ID: 389161, updated on 5-Mar-2024

Summary

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Official Symbol
ANKUB1provided by HGNC
Official Full Name
ankyrin repeat and ubiquitin domain containing 1provided by HGNC
Primary source
HGNC:HGNC:29642
See related
Ensembl:ENSG00000206199 AllianceGenome:HGNC:29642
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
Also known as
C3orf16
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
3q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (149761100..149792554, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (152512353..152543796, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (149478887..149510341, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene WW domain containing transcription regulator 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:149375639-149376218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20682 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:149388438-149388978 Neighboring gene WWTR1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:149396068-149396569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:149431193-149431694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:149431695-149432194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14807 Neighboring gene COMM domain containing 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:149508028-149509227 Neighboring gene RNA, U6 small nuclear 507, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:149530359-149530870 Neighboring gene MPRA-validated peak4858 silencer Neighboring gene ring finger protein 13 Neighboring gene RNA, U6 small nuclear 720, pseudogene Neighboring gene nucleophosmin 1 pseudogene 29

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. Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family. Zhang L, et al. Mol Genet Genomic Med, 2020 Jun. PMID 32253825, Free PMC Article
  2. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family.
    Title: Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family.
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

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

  • FLJ40759

General protein information

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Preferred Names
protein ANKUB1

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_001144960.3 → NP_001138432.1  protein ANKUB1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC069216, AK304359, BC171805
    UniProtKB/Swiss-Prot
    A6NFN9
    UniProtKB/TrEMBL
    E9PHT4
    Related
    ENSP00000387907.1, ENST00000446160.7
    Conserved Domains (5) summary
    smart00213
    Location:1 → 78
    UBQ; Ubiquitin homologues
    cd00204
    Location:195 → 296
    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 ...
    pfam13637
    Location:243 → 294
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:243 → 271
    ANK; ANK repeat [structural motif]
    cl00155
    Location:9 → 78
    UBQ; Ubiquitin-like proteins

  2. NM_001315505.2 → NP_001302434.1  protein ANKUB1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses alternate splice sites in the 5' UTR and coding region which results in the use of an alternate start codon compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC069216, BC171805
    Conserved Domains (3) summary
    cd00204
    Location:49 → 150
    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 ...
    pfam13637
    Location:97 → 148
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:97 → 125
    ANK; ANK repeat [structural motif]

  3. NM_001315506.2 → NP_001302435.1  protein ANKUB1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region compared to variant 1. The encoded isoform (3) has a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AC069216, AK304359
    Consensus CDS
    CCDS82857.1
    UniProtKB/Swiss-Prot
    A6NFN9, B4E2N8, E9PHT4
    Related
    ENSP00000417635.2, ENST00000462519.3
    Conserved Domains (3) summary
    sd00045
    Location:243 → 271
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:196 → 296
    Ank_2; Ankyrin repeats (3 copies)
    cl25424
    Location:3 → 78
    TGS; The TGS domain, named after the ThrRS, GTPase, and SpoT/RelA proteins where it occurs, is structurally similar to ubiquitin. TGS is a small domain of about 50 amino acid residues with a predominantly beta-sheet structure. There is no direct information ...

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    149761100..149792554 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512798.2 → XP_011511100.1  protein ANKUB1 isoform X1

    Conserved Domains (3) summary
    cd00204
    Location:146 → 247
    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 ...
    pfam13637
    Location:194 → 245
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:194 → 222
    ANK; ANK repeat [structural motif]

  2. XM_011512799.2 → XP_011511101.1  protein ANKUB1 isoform X2

    Conserved Domains (5) summary
    smart00213
    Location:1 → 78
    UBQ; Ubiquitin homologues
    cd00204
    Location:195 → 296
    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 ...
    pfam13637
    Location:243 → 294
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:243 → 271
    ANK; ANK repeat [structural motif]
    cl00155
    Location:9 → 78
    UBQ; Ubiquitin-like proteins

  3. XM_011512801.2 → XP_011511103.1  protein ANKUB1 isoform X3

    Conserved Domains (3) summary
    cd00204
    Location:29 → 130
    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 ...
    pfam13637
    Location:77 → 128
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:77 → 105
    ANK; ANK repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    152512353..152543796 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346477.1 → XP_054202452.1  protein ANKUB1 isoform X1

  2. XM_054346478.1 → XP_054202453.1  protein ANKUB1 isoform X2

  3. XM_054346479.1 → XP_054202454.1  protein ANKUB1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NFN9.3 GenPept UniProtKB/Swiss-Prot:A6NFN9

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