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    ANKRD30A ankyrin repeat domain 30A [ Homo sapiens (human) ]

    Gene ID: 91074, updated on 10-Oct-2024

    Summary

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    Official Symbol
    ANKRD30Aprovided by HGNC
    Official Full Name
    ankyrin repeat domain 30Aprovided by HGNC
    Primary source
    HGNC:HGNC:17234
    See related
    Ensembl:ENSG00000148513 MIM:610856; AllianceGenome:HGNC:17234
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NY-BR-1
    Summary
    This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [provided by RefSeq, Nov 2016]
    Expression
    Biased expression in testis (RPKM 1.1) and fat (RPKM 0.7) See more
    Orthologs
    all
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    Genomic context

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    See ANKRD30A in Genome Data Viewer
    Location:
    10p11.21
    Exon count:
    57
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (37125598..37265894)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (37157689..37308527)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (37414526..37521495)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene MAP kinase interacting serine/threonine kinase 2 pseudogene 1 Neighboring gene ARF like GTPase 6 interacting protein 1 pseudogene 2 Neighboring gene RNA, U6 small nuclear 811, pseudogene Neighboring gene ATPase phospholipid transporting 8A2 pseudogene 1 Neighboring gene uncharacterized LOC124902412 Neighboring gene RNA, 7SL, cytoplasmic 314, 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. The differentiation antigen NY-BR-1 is a potential target for antibody-based therapies in breast cancer. Seil I, et al. Int J Cancer, 2007 Jun 15. PMID 17330232
    2. NY-BR-1 is a differentiation antigen of the mammary gland. Jäger D, et al. Appl Immunohistochem Mol Morphol, 2007 Mar. PMID 17536312
    3. Preferential nuclear and cytoplasmic NY-BR-1 protein expression in primary breast cancer and lymph node metastases. Varga Z, et al. Clin Cancer Res, 2006 May 1. PMID 16675566
    4. A four-gene expression-based signature predicts the clinical outcome of melanoma. Sun L, et al. J BUON, 2019 Sep-Oct. PMID 31786890
    5. Distinct expression patterns of the immunogenic differentiation antigen NY-BR-1 in normal breast, testis and their malignant counterparts. Theurillat JP, et al. Int J Cancer, 2008 Apr 1. PMID 18041742

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This observation was confirmed in four independent cohorts, GSE22138, GSE54467, GSE65904 and E-MTAB-4725. In addition, the melanoma score was independent of most clinically used indicators.
      Title: A four-gene expression-based signature predicts the clinical outcome of melanoma.
    2. Authors found a high sensitivity for all the markers analyzed. Moreover, the expression of NY-BR-1 and GATA-3 seemed the most effective for labelling male breast cancer in primary and metastatic setting.
      Title: Preferential expression of NY-BR-1 and GATA-3 in male breast cancer.
    3. Over 2800 SNPs are recorded in the dbSNP and NHLBI Exome Sequencing Project (ESP) databases for the NY-BR-1 gene.
      Title: In silico SNP analysis of the breast cancer antigen NY-BR-1.
    4. Results revealed a significant difference in NY-BR-1 Ag expression between benign and malignant breast cancer patients
      Title: NY-BR-1 Antigen Expression and anti-NY-BR-1 IgG in Egyptian Breast Cancer Patients: Clinicopathological and Prognostic Significance.
    5. The exclusive expression of Cancer-testis antigens in tumor tissues as well as the frequent expression of NY-BR-1 could define new targets for specific breast cancer therapies.
      Title: Cancer testis antigens and NY-BR-1 expression in primary breast cancer: prognostic and therapeutic implications.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    7. We identified estrogen-response element (ERE)-like sequences nearby the NY-BR-1 promoter region, suggesting that NY-BR-1 expression might be regulated through estrogen receptors.
      Title: Distinct expression patterns of the immunogenic differentiation antigen NY-BR-1 in normal breast, testis and their malignant counterparts.
    8. testing demonstrates NY-BR-1 in a mostly focal fashion in the epithelia of ducts and acini of the mammary gland. In tumors, homogenous staining can be seen in almost all ductal carcinomas in situ and/or the intraductal component of invasive carcinomas.
      Title: NY-BR-1 is a differentiation antigen of the mammary gland.
    9. In this study we extended the expression analysis to various other normal and tumor tissues and found inconsistent expression of NY-BR-1 in normal prostate, but consistent NY-BR-1 mRNA expression in 32% of prostate cancers, but not in other tumor types
      Title: Humoral and cellular immune responses against the breast cancer antigen NY-BR-1: definition of two HLA-A2 restricted peptide epitopes.
    10. NY-BR-1 is a differentiation antigen of the breast, which is present in normal and tumorous mammary epithelium.
      Title: Preferential nuclear and cytoplasmic NY-BR-1 protein expression in primary breast cancer and lymph node metastases.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
    EBI GWAS Catalog
    Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
    EBI GWAS Catalog
    Genome-wide association study of periodontal pathogen colonization.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of ankyrin repeat domain 30A (ANKRD30A) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed
    Knockdown of ankyrin repeat domain 30A (ANKRD30A) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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

    Genomic

    1. NG_051556.1 RefSeqGene

      Range
      4857..111826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_052997.3 → NP_443723.3  ankyrin repeat domain-containing protein 30A

      Status: REVIEWED

      Source sequence(s)
      AC067744, AL157387, AL357148
      Consensus CDS
      CCDS7193.2
      UniProtKB/Swiss-Prot
      Q5W025, Q9BXX3
      UniProtKB/TrEMBL
      R4GNA2
      Related
      ENSP00000354432.2, ENST00000361713.2
      Conserved Domains (6) summary
      PTZ00121
      Location:454 → 1194
      PTZ00121; MAEBL; Provisional
      PHA03095
      Location:103 → 292
      PHA03095; ankyrin-like protein; Provisional
      sd00045
      Location:74 → 103
      ANK; ANK repeat [structural motif]
      pfam13637
      Location:42 → 93
      Ank_4; Ankyrin repeats (many copies)
      pfam12796
      Location:77 → 167
      Ank_2; Ankyrin repeats (3 copies)
      pfam14915
      Location:1104 → 1395
      CCDC144C; CCDC144C protein coiled-coil region

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      37125598..37265894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519757.4 → XP_011518059.1  ankyrin repeat domain-containing protein 30A isoform X1

      UniProtKB/TrEMBL
      Q5W026
      Conserved Domains (5) 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)
      pfam14915
      Location:1251 → 1540
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:74 → 103
      ANK; ANK repeat [structural motif]

    2. XM_047425990.1 → XP_047281946.1  ankyrin repeat domain-containing protein 30A isoform X3

    3. XM_011519758.3 → XP_011518060.1  ankyrin repeat domain-containing protein 30A 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]

    4. XM_047425992.1 → XP_047281948.1  ankyrin repeat domain-containing protein 30A isoform X4

    RNA

    1. XR_007062015.1 RNA Sequence

    2. XR_930524.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      37157689..37308527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367121.1 → XP_054223096.1  ankyrin repeat domain-containing protein 30A isoform X5

    2. XM_054367123.1 → XP_054223098.1  ankyrin repeat domain-containing protein 30A isoform X7

    3. XM_054367122.1 → XP_054223097.1  ankyrin repeat domain-containing protein 30A isoform X6

    4. XM_054367124.1 → XP_054223099.1  ankyrin repeat domain-containing protein 30A isoform X8

    RNA

    1. XR_008488308.1 RNA Sequence

    2. XR_008488309.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXX3.3 GenPept UniProtKB/Swiss-Prot:Q9BXX3

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