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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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