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    ANKRD30B ankyrin repeat domain 30B [ Homo sapiens (human) ]

    Gene ID: 374860, updated on 10-Oct-2024

    Summary

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    Official Symbol
    ANKRD30Bprovided by HGNC
    Official Full Name
    ankyrin repeat domain 30Bprovided by HGNC
    Primary source
    HGNC:HGNC:24165
    See related
    Ensembl:ENSG00000180777 MIM:616565; AllianceGenome:HGNC:24165
    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
    NY-BR-1.1
    Expression
    Restricted expression toward testis (RPKM 7.9) See more
    Orthologs
    all
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    Genomic context

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    See ANKRD30B in Genome Data Viewer
    Location:
    18p11.21
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (14748172..14941135)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (14910101..15104114)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (14748171..14854666)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372006 Neighboring gene uncharacterized LOC105372005 Neighboring gene uncharacterized LOC105372007 Neighboring gene uncharacterized LOC105372008 Neighboring gene RNA, U6 small nuclear 1210, pseudogene Neighboring gene microRNA 3156-2 Neighboring gene long intergenic non-protein coding RNA 1906 Neighboring gene fibroblast growth factor 7 pseudogene 1 Neighboring gene uncharacterized LOC105372010 Neighboring gene long intergenic non-protein coding RNA 1443 Neighboring gene long intergenic non-protein coding RNA 1444 Neighboring gene apical junction component 1 homolog pseudogene

    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. Identification of a tissue-specific putative transcription factor in breast tissue by serological screening of a breast cancer library. Jäger D, et al. Cancer Res, 2001 Mar 1. PMID 11280766
    2. Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair. Lu H, et al. Nat Commun, 2017 Dec 11. PMID 29229926, Free PMC Article
    3. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683
    4. Protein interaction landscapes revealed by advanced in vivo cross-linking-mass spectrometry. Wheat A, et al. Proc Natl Acad Sci U S A, 2021 Aug 10. PMID 34349018, Free PMC Article
    5. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 30B
    Names
    serologically defined breast cancer antigen NY-BR-1.1

    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_001367607.2 → NP_001354536.1  ankyrin repeat domain-containing protein 30B

      Status: VALIDATED

      Source sequence(s)
      AP005121, AP006507, AP006564, AP006565
      Consensus CDS
      CCDS92441.1
      UniProtKB/TrEMBL
      A0A590UK20, A0A8I5KW82
      Related
      ENSP00000510074.1, ENST00000690538.1

    RNA

    1. NR_160272.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP006507, AP006564, AP006565
      Related
      ENST00000580206.1

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      14748172..14941135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525664.3 → XP_011523966.1  ankyrin repeat domain-containing protein 30B isoform X1

      Conserved Domains (4) summary
      cd00204
      Location:67 → 192
      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 ...
      pfam12796
      Location:77 → 169
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:42 → 93
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:74 → 103
      ANK; ANK repeat [structural motif]

    2. XM_011525665.3 → XP_011523967.1  ankyrin repeat domain-containing protein 30B isoform X2

      Conserved Domains (4) summary
      cd00204
      Location:67 → 192
      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 ...
      pfam12796
      Location:77 → 169
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:42 → 93
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:74 → 103
      ANK; ANK repeat [structural motif]

    3. XM_011525666.3 → XP_011523968.1  ankyrin repeat domain-containing protein 30B isoform X3

      Conserved Domains (4) summary
      cd00204
      Location:67 → 192
      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 ...
      pfam12796
      Location:77 → 169
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:42 → 93
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:74 → 103
      ANK; ANK repeat [structural motif]

    4. XM_024451168.2 → XP_024306936.1  ankyrin repeat domain-containing protein 30B isoform X5

      Conserved Domains (2) summary
      cd00204
      Location:67 → 192
      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 ...
      sd00045
      Location:74 → 103
      ANK; ANK repeat [structural motif]

    5. XM_024451167.2 → XP_024306935.1  ankyrin repeat domain-containing protein 30B isoform X4

      Conserved Domains (2) summary
      cd00204
      Location:67 → 192
      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 ...
      sd00045
      Location:74 → 103
      ANK; ANK repeat [structural motif]

    RNA

    1. XR_007066151.1 RNA Sequence

    2. XR_007066152.1 RNA Sequence

    3. XR_935057.3 RNA Sequence

    4. XR_935058.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      14910101..15104114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318555.1 → XP_054174530.1  ankyrin repeat domain-containing protein 30B isoform X6

    2. XM_054318557.1 → XP_054174532.1  ankyrin repeat domain-containing protein 30B isoform X6

    3. XM_054318556.1 → XP_054174531.1  ankyrin repeat domain-containing protein 30B isoform X6

    4. XM_054318558.1 → XP_054174533.1  ankyrin repeat domain-containing protein 30B isoform X6

    5. XM_054318559.1 → XP_054174534.1  ankyrin repeat domain-containing protein 30B isoform X6

    6. XM_054318561.1 → XP_054174536.1  ankyrin repeat domain-containing protein 30B isoform X6

    7. XM_054318563.1 → XP_054174538.1  ankyrin repeat domain-containing protein 30B isoform X6

    8. XM_054318562.1 → XP_054174537.1  ankyrin repeat domain-containing protein 30B isoform X6

    9. XM_054318560.1 → XP_054174535.1  ankyrin repeat domain-containing protein 30B isoform X6

    10. XM_054318564.1 → XP_054174539.1  ankyrin repeat domain-containing protein 30B isoform X6

    11. XM_054318565.1 → XP_054174540.1  ankyrin repeat domain-containing protein 30B isoform X1

    12. XM_054318566.1 → XP_054174541.1  ankyrin repeat domain-containing protein 30B isoform X2

    13. XM_054318567.1 → XP_054174542.1  ankyrin repeat domain-containing protein 30B isoform X3

    14. XM_054318569.1 → XP_054174544.1  ankyrin repeat domain-containing protein 30B isoform X5

    15. XM_054318568.1 → XP_054174543.1  ankyrin repeat domain-containing protein 30B isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001145029.1: Suppressed sequence

      Description
      NM_001145029.1: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXX2.3 GenPept UniProtKB/Swiss-Prot:Q9BXX2

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