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

Gene ID: 91074, updated on 31-Oct-2022

Summary

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
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Genomic context

See ANKRD30A in Genome Data Viewer
Location:
10p11.21
Exon count:
57
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (37125598..37265894)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (37157689..37276434)
105.20220307 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 ADP ribosylation factor 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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_052997.3NP_443723.3  ankyrin repeat domain-containing protein 30A

    Status: REVIEWED

    Source sequence(s)
    AC067744, AL157387, AL357148
    Consensus CDS
    CCDS7193.2
    UniProtKB/Swiss-Prot
    Q5W025
    Related
    ENSP00000354432.2, ENST00000361713.2
    Conserved Domains (6) summary
    PTZ00121
    Location:4541194
    PTZ00121; MAEBL; Provisional
    PHA03095
    Location:103292
    PHA03095; ankyrin-like protein; Provisional
    sd00045
    Location:74103
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:4293
    Ank_4; Ankyrin repeats (many copies)
    pfam12796
    Location:77167
    Ank_2; Ankyrin repeats (3 copies)
    pfam14915
    Location:11041395
    CCDC144C; CCDC144C protein coiled-coil region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011519757.4XP_011518059.1  ankyrin repeat domain-containing protein 30A isoform X1

    Conserved Domains (5) summary
    cd00204
    Location:67192
    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:77169
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:4293
    Ank_4; Ankyrin repeats (many copies)
    pfam14915
    Location:12511540
    CCDC144C; CCDC144C protein coiled-coil region
    sd00045
    Location:74103
    ANK; ANK repeat [structural motif]
  2. XM_047425990.1XP_047281946.1  ankyrin repeat domain-containing protein 30A isoform X3

  3. XM_011519758.3XP_011518060.1  ankyrin repeat domain-containing protein 30A isoform X2

    Conserved Domains (4) summary
    cd00204
    Location:67192
    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:77169
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:4293
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:74103
    ANK; ANK repeat [structural motif]
  4. XM_047425992.1XP_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..37276434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)