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    ANKRD34B ankyrin repeat domain 34B [ Homo sapiens (human) ]

    Gene ID: 340120, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ANKRD34Bprovided by HGNC
    Official Full Name
    ankyrin repeat domain 34Bprovided by HGNC
    Primary source
    HGNC:HGNC:33736
    See related
    Ensembl:ENSG00000189127 MIM:618581; AllianceGenome:HGNC:33736
    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
    DP58
    Summary
    Predicted to be located in cytoplasm and nucleus. Predicted to be active in pi-body. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD34B in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (80556755..80570280, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (81040746..81054295, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (79852574..79866099, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 151 member B Neighboring gene RPS27A pseudogene 9 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:79802930-79803430 Neighboring gene ribosomal protein L7 pseudogene 24 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:79808370-79809569 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:79850523-79851153 Neighboring gene long intergenic non-protein coding RNA 1337 Neighboring gene DBI pseudogene 2

    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. Age-Related DNA Methylation in Normal Kidney Tissue Identifies Epigenetic Cancer Risk Susceptibility Loci in the ANKRD34B and ZIC1 Genes. Serth J, et al. Int J Mol Sci, 2022 May 10. PMID 35628134, Free PMC Article
    2. A novel phosphoprotein is induced during bone marrow commitment to dendritic cells. Al-Shaibi N, et al. Biochem Biophys Res Commun, 2004 Aug 13. PMID 15358210
    3. 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
    4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    5. OpenCell: Endogenous tagging for the cartography of human cellular organization. Cho NH, et al. Science, 2022 Mar 11. PMID 35271311, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Age-Related DNA Methylation in Normal Kidney Tissue Identifies Epigenetic Cancer Risk Susceptibility Loci in the ANKRD34B and ZIC1 Genes.
      Title: Age-Related DNA Methylation in Normal Kidney Tissue Identifies Epigenetic Cancer Risk Susceptibility Loci in the ANKRD34B and ZIC1 Genes.
    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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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in pi-body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 34B
    Names
    cytosolic phosphoprotein DP58
    dendritic phosphoprotein 58 kDa

    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_001004441.3 → NP_001004441.2  ankyrin repeat domain-containing protein 34B

      See identical proteins and their annotated locations for NP_001004441.2

      Status: VALIDATED

      Source sequence(s)
      AC008434, BC137441, CR749535
      Consensus CDS
      CCDS34194.1
      UniProtKB/Swiss-Prot
      A5PLL1, B2RPH1, Q68D79
      Related
      ENSP00000339802.3, ENST00000338682.8
      Conserved Domains (3) summary
      cd00204
      Location:31 → 138
      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 ...
      pfam13857
      Location:70 → 125
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:42 → 81
      ANK; ANK repeat [structural motif]

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      80556755..80570280 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417142.1 → XP_047273098.1  ankyrin repeat domain-containing protein 34B isoform X1

      UniProtKB/Swiss-Prot
      A5PLL1, B2RPH1, Q68D79

    2. XM_006714599.4 → XP_006714662.1  ankyrin repeat domain-containing protein 34B isoform X1

      See identical proteins and their annotated locations for XP_006714662.1

      UniProtKB/Swiss-Prot
      A5PLL1, B2RPH1, Q68D79
      Conserved Domains (3) summary
      cd00204
      Location:31 → 138
      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 ...
      pfam13857
      Location:70 → 125
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:42 → 81
      ANK; ANK repeat [structural motif]

    3. XM_011543366.3 → XP_011541668.1  ankyrin repeat domain-containing protein 34B isoform X1

      See identical proteins and their annotated locations for XP_011541668.1

      UniProtKB/Swiss-Prot
      A5PLL1, B2RPH1, Q68D79
      Conserved Domains (3) summary
      cd00204
      Location:31 → 138
      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 ...
      pfam13857
      Location:70 → 125
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:42 → 81
      ANK; ANK repeat [structural motif]

    4. XM_047417141.1 → XP_047273097.1  ankyrin repeat domain-containing protein 34B isoform X1

      UniProtKB/Swiss-Prot
      A5PLL1, B2RPH1, Q68D79

    5. XM_047417143.1 → XP_047273099.1  ankyrin repeat domain-containing protein 34B isoform X1

      UniProtKB/Swiss-Prot
      A5PLL1, B2RPH1, Q68D79

    6. XM_011543369.2 → XP_011541671.1  ankyrin repeat domain-containing protein 34B isoform X1

      See identical proteins and their annotated locations for XP_011541671.1

      UniProtKB/Swiss-Prot
      A5PLL1, B2RPH1, Q68D79
      Conserved Domains (3) summary
      cd00204
      Location:31 → 138
      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 ...
      pfam13857
      Location:70 → 125
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:42 → 81
      ANK; ANK repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      81040746..81054295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352505.1 → XP_054208480.1  ankyrin repeat domain-containing protein 34B isoform X1

    2. XM_054352504.1 → XP_054208479.1  ankyrin repeat domain-containing protein 34B isoform X1

    3. XM_054352502.1 → XP_054208477.1  ankyrin repeat domain-containing protein 34B isoform X1

    4. XM_054352503.1 → XP_054208478.1  ankyrin repeat domain-containing protein 34B isoform X1

    5. XM_054352506.1 → XP_054208481.1  ankyrin repeat domain-containing protein 34B isoform X1

    6. XM_054352507.1 → XP_054208482.1  ankyrin repeat domain-containing protein 34B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A5PLL1.3 GenPept UniProtKB/Swiss-Prot:A5PLL1

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