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AARD (alanine and arginine rich domain containing protein)

Written2019-01Jean Loup Huret
jean-loup.huret@atlasgeneticsoncology.org

Abstract Review on AARD, with data on DNA, on the protein encoded, and where the gene is implicated.

Keywords AARD; Transcription factor; Signal transduction mediator; Developmental protein

(Note : for Links provided by Atlas : click)

Identity

Alias_namesC8orf85
chromosome 8 open reading frame 85
Alias_symbol (synonym)LOC441376
Other alias
HGNC (Hugo) AARD
LocusID (NCBI) 441376
Atlas_Id 60018
Location 8q24.11  [Link to chromosome band 8q24]
Location_base_pair Starts at 116938225 and ends at 116944000 bp from pter ( according to hg19-Feb_2009)  [Mapping AARD.png]
Local_order RAD21: transcript (hg38) chr8:116,846,905-116,852,252
RAD21-AS1: transcript (hg38) chr8:116,874,424-116,876,868
MIR3610: transcript (hg38) chr8:116,874,728-116,874,800
AARD
SLC30A8: transcript (hg38) chr8:117,135,259-117,176,714
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
RIC1/AARD

DNA/RNA

Description A potential androgen response element (ARE) sequence (1637 to1632, TGTTCT) was found in the mouse Aard promoter (see below).
Transcription Transcript (hg38), including UTRs: chr8:116,938,199-116,944,487, size: 6,289bp on strand +; coding region: chr8:116,938,244-116,942,701, size: 4,458bp, according to UCSC.
AARD has 2 splice variants, one of these 2 transcripts codes for a protein. Transcript length: 2299 bp, coding sequence: 468 nt. 2 exons; exon 1 codes for aa 1-109, exon 2 codes for aa 110-155 (Vega).

Protein

 
  Figure 1: AARD gene and protein
Description 155 amino acids (aa), 17575Da. Of note are an Ala/Arg-rich domain of 46 aa in aa 60-105, with a long stretch of alanine in aa 82-88, four leucine zippers at aa 56-63 (LEDLRRRL), 101-108 (LARLRAEL), 118-125 (LARTLLDL), 125-132 (LNMKVQQL), and 3 phosphorylation sites (serine/threonine kinases) in aa 95-98 (TGVE), 121-124 (TLLD) and 146-149 (SPKD).
The rat Aard (named rA5D3) 165 aa long is sequenced and described in Blomberg et al., 2002.
 
  Figure 2: ModBase predicted comparative 3D structure (Pieper et al., 2014)
Expression AARD is expressed prenatally in male gonads, and in most organs postnatally (see below).
Localisation AARD is detected in lipid droplets (The Human Protein Database).
Function The presence of leucine-zipper domains and phosphorylation sites suggest that AARD is a transcription factor, and may be involved in signal transduction pathways (Blomberg et al., 2002).
Aard is upregulated early during postnatal rat lung development, but also in the heart, kidney, liver, and testis, but the developmental expression pattern, although comparable in levels of expression, was different -in term of timing- in each of the tissues studied (Blomberg et al., 2002). Aard is one of the 266 or 1083 genes, according to the different studies, upregulated in gonads of male but -not in female- mice embryos. This strong expression was restricted to the sex cords (Menke and Page, 2002; Bouma et al., 2004; Nef et al., 2005; Beverdam and Koopman, 2006). Strong testis-specific expression was also detected in the adult mouse (Svingen et al., 2007). It is also expressed in adult liver, kidney, brain, lung, muscle, heart and bladder of mice (Geng et al., 2017).
AR (androgen receptor) mediates the effects of androgens by binding to the androgen response elements (ARE) of target genes. An ARE (TGTTCT) was identified at position -1637 to -1632 in the promoter region near the mouse Aard transcription initiation site. AR binds this ARE and activates Aard transcription. Aard is directly regulated by AR in Sertoli cells of mouse testis (Geng et al., 2017).

Implicated in

Note AARD RNA is enriched in breast cancer, but the gene product is not prognostic (The Human Protein Database).
  
Entity Lung adenocarcinoma
Note A t(8;9)(q24;p24) RIC1 /AARD has been found in lung adenocarcinoma (Yoshihara et al. 2015; Hu et al., 2018).
  

Bibliography

Expression profiling of purified mouse gonadal somatic cells during the critical time window of sex determination reveals novel candidate genes for human sexual dysgenesis syndromes
Beverdam A, Koopman P
Hum Mol Genet 2006 Feb 1;15(3):417-31
PMID 16399799
 
Molecular cloning and characterization of a novel gene upregulated early during postnatal rat lung development
Blomberg LA, Chan WY, Clerch LB, Massaro D
Biochim Biophys Acta 2002 Apr 12;1574(3):391-8
PMID 11997109
 
Using real time RT-PCR analysis to determine multiple gene expression patterns during XX and XY mouse fetal gonad development
Bouma GJ, Hart GT, Washburn LL, Recknagel AK, Eicher EM
Gene Expr Patterns 2004 Nov;5(1):141-9
PMID 15533830
 
Alanine and arginine rich domain containing protein, Aard, is directly regulated by androgen receptor in mouse Sertoli cells
Geng Q, Ni LW, Ouyang B, Hu YH, Zhao Y, Guo J
Mol Med Rep 2017 Jan;15(1):352-358
PMID 27959439
 
TumorFusions: an integrative resource for cancer-associated transcript fusions
Hu X, Wang Q, Tang M, Barthel F, Amin S, Yoshihara K, Lang FM, Martinez-Ledesma E, Lee SH, Zheng S, Verhaak RGW
Nucleic Acids Res 2018 Jan 4;46(D1):D1144-D1149
PMID 29099951
 
Sexually dimorphic gene expression in the developing mouse gonad
Menke DB, Page DC
Gene Expr Patterns 2002 Dec;2(3-4):359-67
PMID 12617826
 
Gene expression during sex determination reveals a robust female genetic program at the onset of ovarian development
Nef S, Schaad O, Stallings NR, Cederroth CR, Pitetti JL, Schaer G, Malki S, Dubois-Dauphin M, Boizet-Bonhoure B, Descombes P, Parker KL, Vassalli JD
Dev Biol 2005 Nov 15;287(2):361-77
PMID 16214126
 
ModBase, a database of annotated comparative protein structure models and associated resources
Pieper U, Webb BM, Dong GQ, Schneidman-Duhovny D, Fan H, Kim SJ, Khuri N, Spill YG, Weinkam P, Hammel M, Tainer JA, Nilges M, Sali A
Nucleic Acids Res 2014 Jan;42(Database issue):D336-46
PMID 24271400
 
Aard is specifically up-regulated in Sertoli cells during mouse testis differentiation
Svingen T, Beverdam A, Verma P, Wilhelm D, Koopman P
Int J Dev Biol 2007;51(3):255-8
PMID 17486547
 
The landscape and therapeutic relevance of cancer-associated transcript fusions
Yoshihara K, Wang Q, Torres-Garcia W, Zheng S, Vegesna R, Kim H, Verhaak RG
Oncogene 2015 Sep 10;34(37):4845-54
PMID 25500544
 

Citation

This paper should be referenced as such :
Huret JL
AARD (alanine and arginine rich domain containing protein);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Genes/AARDID60018ch8q24.html


External links

Nomenclature
HGNC (Hugo)AARD   33842
Cards
AtlasAARDID60088q24
Entrez_Gene (NCBI)AARD  441376  alanine and arginine rich domain containing protein
AliasesC8orf85
GeneCards (Weizmann)AARD
Ensembl hg19 (Hinxton)ENSG00000205002 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205002 [Gene_View]  ENSG00000205002 [Sequence]  chr8:116938225-116944000 [Contig_View]  AARD [Vega]
ICGC DataPortalENSG00000205002
TCGA cBioPortalAARD
AceView (NCBI)AARD
Genatlas (Paris)AARD
WikiGenes441376
SOURCE (Princeton)AARD
Genetics Home Reference (NIH)AARD
Genomic and cartography
GoldenPath hg38 (UCSC)AARD  -     chr8:116938225-116944000 +  8q24.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AARD  -     8q24.11   [Description]    (hg19-Feb_2009)
GoldenPathAARD - 8q24.11 [CytoView hg19]  AARD - 8q24.11 [CytoView hg38]
ImmunoBaseENSG00000205002
Mapping of homologs : NCBIAARD [Mapview hg19]  AARD [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB181519 BC140924 BC142621
RefSeq transcript (Entrez)NM_001025357
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AARD
Cluster EST : UnigeneHs.437551 [ NCBI ]
CGAP (NCI)Hs.437551
Alternative Splicing GalleryENSG00000205002
Gene ExpressionAARD [ NCBI-GEO ]   AARD [ EBI - ARRAY_EXPRESS ]   AARD [ SEEK ]   AARD [ MEM ]
Gene Expression Viewer (FireBrowse)AARD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)441376
GTEX Portal (Tissue expression)AARD
Human Protein AtlasENSG00000205002-AARD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ4LEZ3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ4LEZ3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ4LEZ3
Splice isoforms : SwissVarQ4LEZ3
PhosPhoSitePlusQ4LEZ3
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)AARD
DMDM Disease mutations441376
Blocks (Seattle)AARD
SuperfamilyQ4LEZ3
Human Protein Atlas [tissue]ENSG00000205002-AARD [tissue]
Peptide AtlasQ4LEZ3
IPIIPI00455846   
Protein Interaction databases
DIP (DOE-UCLA)Q4LEZ3
IntAct (EBI)Q4LEZ3
FunCoupENSG00000205002
BioGRIDAARD
STRING (EMBL)AARD
ZODIACAARD
Ontologies - Pathways
QuickGOQ4LEZ3
Ontology : AmiGOlung development  
Ontology : EGO-EBIlung development  
NDEx NetworkAARD
Atlas of Cancer Signalling NetworkAARD
Wikipedia pathwaysAARD
Orthology - Evolution
OrthoDB441376
GeneTree (enSembl)ENSG00000205002
Phylogenetic Trees/Animal Genes : TreeFamAARD
HOGENOMQ4LEZ3
Homologs : HomoloGeneAARD
Homology/Alignments : Family Browser (UCSC)AARD
Gene fusions - Rearrangements
Fusion : Fusion_HubAARD--CD24    KIAA1432--AARD    TRPS1--AARD   
Fusion : QuiverAARD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAARD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AARD
dbVarAARD
ClinVarAARD
1000_GenomesAARD 
Exome Variant ServerAARD
ExAC (Exome Aggregation Consortium)ENSG00000205002
GNOMAD BrowserENSG00000205002
Varsome BrowserAARD
Genetic variants : HAPMAP441376
Genomic Variants (DGV)AARD [DGVbeta]
DECIPHERAARD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAARD 
Mutations
ICGC Data PortalAARD 
TCGA Data PortalAARD 
Broad Tumor PortalAARD
OASIS PortalAARD [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDAARD
BioMutasearch AARD
DgiDB (Drug Gene Interaction Database)AARD
DoCM (Curated mutations)AARD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AARD (select a term)
intoGenAARD
Cancer3DAARD(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETAARD
MedgenAARD
Genetic Testing Registry AARD
NextProtQ4LEZ3 [Medical]
TSGene441376
GENETestsAARD
Target ValidationAARD
Huge Navigator AARD [HugePedia]
snp3D : Map Gene to Disease441376
BioCentury BCIQAARD
ClinGenAARD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD441376
Chemical/Pharm GKB GenePA164717502
Clinical trialAARD
Miscellaneous
canSAR (ICR)AARD (select the gene name)
DataMed IndexAARD
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAARD
EVEXAARD
GoPubMedAARD
iHOPAARD
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 8 15:03:42 CEST 2019

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jlhuret@AtlasGeneticsOncology.org.