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

    Gene ID: 389161, updated on 17-Sep-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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    See ANKUB1 in Genome Data Viewer
    Location:
    3q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (149761100..149792554, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (152512353..152543796, complement)
    RS_2024_09 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 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)

    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_2024_08

    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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