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

Gene ID: 374860, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (14748172..14941135)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (14910101..15104114)
105.20220307 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
  • 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. 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
  4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (6) 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_2023_10

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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