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GIFtS
-

RIIAD1 Gene

protein-coding GIFtS: 37
GCID: GC01P151684

regulatory subunit of type II PKA R-subunit (RIIa) domain...

(Previous names: non-protein coding RNA 166, chromosome 1 open reading frame...)
(Previous symbols: NCRNA00166, C1orf230)

Search for RIIAD1
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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Regulatory Subunit Of Type II PKA R-Subunit (RIIa) Domain Containing 1¹ ²		Non-Protein Coding RNA 166¹
C1orf230¹ ² ³		RIIa Domain-Containing Protein 1²
NCRNA00166¹ ²		RIIa Domain-Containing Protein C1orf230²
FLJ36032¹		RIIa Domain-Containing Protein ENSP00000357824²
Chromosome 1 Open Reading Frame 230¹

External Ids:	HGNC: 26686¹	Entrez Gene: 284485²	Ensembl: ENSG00000178796⁷	UniProtKB: A6NNX1³

Export aliases for RIIAD1 gene to outside databases

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for RIIAD1
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RIIAD1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.3 Ensembl cytogenetic band: 1q21.3 HGNC cytogenetic band: 1q21.3

RIIAD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIIAD1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P151684: view genomic region (about GC identifiers)

Start:	151,682,909 bp from pter	End:	151,702,281 bp from pter
Size:	19,373 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RIAD1_HUMAN, A6NNX1 (See protein sequence)

Recommended Name: RIIa domain-containing protein 1

Size: 92 amino acids; 10810 Da

Explore the universe of human proteins at neXtProt for RIIAD1: NX_A6NNX1

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_A6NNX1

RIIAD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001138428.1

ENSEMBL proteins:

ENSP00000420280 ENSP00000419249

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RIIAD1 for domains About GeneDecksing

1 InterPro domain/family:

IPR003117 cAMP_dep_PK_reg_su_I/II_a/b

Graphical View of Domain Structure for InterPro Entry A6NNX1

ProtoNet protein and cluster: A6NNX1

UniProtKB/Swiss-Prot: RIAD1_HUMAN, A6NNX1

Similarity: Contains 1 RIIa domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008603	cAMP-dependent protein kinase regulator activity	IEA	--

RIIAD1 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Endothelin

Endothelin

1.00

1 BioSystems Pathway for RIIAD1

Endothelin

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RIIAD1

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	IEA	--

RIIAD1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RIIAD1
Search CenterWatch for drugs/clinical trials and news about RIIAD1 / RIAD1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for RIIAD1 gene:

NM_001144956.1

Unigene Cluster for RIIAD1:

Regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1

Hs.297967 [show with all ESTs]

Unigene Representative Sequence: AV746331

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000326413(uc001eyu.2) ENST00000479191(uc010pdj.1) ENST00000451484

ENST00000426175 ENST00000451222 ENST00000427205

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3 DOTS entries:

DT.100017148 DT.100748441 DT.456217

17 AceView cDNA sequences:

BQ185091 AK093351 AX748071 BQ188871 BX281741 CK300240 AA627055 AV745288

AA397607 AA364108 AV746233 AA454018 AA451807 AA393536 AV746166 H10874

AA393535

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RIIAD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGAGCCCTAC

About this image

RIIAD1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Rod Bipolar Cells

Bipolar, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RIIAD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RIIAD1

SOURCE GeneReport for Unigene cluster: Hs.297967

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for RIIAD1 gene from 2/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Riiad1^{1 , 5}	regulatory subunit of type II PKA R-subunit (RIIa) more^{1, 5}	78.52(n)¹ 78.89(a)¹		3 (40.71 cM)⁵ 66353¹ NM_025506.2¹ NP_079782.1¹ 94464985⁵
zebrafish (Danio rerio)	Actinopterygii	si:dkey-71b5.6¹	si:dkey-71b5.6	63.68(n) 62.82(a)		100294632 NM_001159763.1 NP_001153235.1

ENSEMBL Gene Tree for RIIAD1 (if available)
TreeFam Gene Tree for RIIAD1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs112640421^1,2	F,	--	151692127(+)	`TATAAC/ACTTCC`	1	--	us2k¹		2		CSA	4
rs6587614^1,2	C,F,A,H,	--	151692206(+)	`TGAGAC/TGCTGT`	1	--	us2k¹		10		NS EA NA WA	1206
rs57983158^1,2	F,	--	151692282(+)	`AAAGGC/TTTGAT`	1	--	us2k¹		1		WA	118
rs143989147^1,2		--	151692399(+)	`TGAGTG/TTGTAG`	1	--	us2k¹		0	--	--	--	--
rs111420003^1,2		--	151692452(+)	`CCACAC/TATATG`	1	--	us2k¹		1		CSA	2
rs6683687^1,2	C,F,A,H,	--	151692483(+)	`CATATA/GTAAAA`	1	--	us2k¹		9		NA CSA WA EA	372
rs185240222^1,2		--	151692511(+)	`AAATTA/GCTTTT`	1	--	us2k¹		0	--	--	--	--
rs190881875^1,2		--	151692689(+)	`CCACAA/GGTGGC`	1	--	us2k¹		0	--	--	--	--
rs182235886^1,2		--	151692711(+)	`GTACTA/GGCTGG`	1	--	us2k¹		0	--	--	--	--
rs113753296^1,2	C,	--	151692827(+)	`CCGGGA/-GAAAA`	1	--	us2k¹		1		CSA	2

HapMap Linkage Disequilibrium report for RIIAD1 (151682909 - 151702281 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RIIAD1: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RIIAD1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with RIIAD1)

Utopia: connect your pdf to the dynamic
world of online information

The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
Uncoupling of bait-protein expression from the prey p rotein environment adds versatility for cell and tissue interaction proteomics and reveals a complex of CARP-1 and the PKA Cbeta1 subunit. (PubMed id 20564261)¹ Erlbruch A....Bossemeyer D. (2010)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 284485	HGNC: 26686	AceView: FLJ36032	Ensembl:ENSG00000178796	euGenes: HUgn284485
ECgene: RIIAD1	H-InvDB: RIIAD1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RIIAD1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RIIAD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RIIAD1 gene:
Search GeneIP for patents involving RIIAD1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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	Protein Production and Purification

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for RIIAD1

	Browse SwitchGear 3'UTR luciferase reporter plasmids for RIIAD1
	Browse SwitchGear Promoter luciferase reporter plasmids for RIIAD1

Search ThermoFisher Antibodies for RIIAD1

Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RIIAD1

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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RIIAD1 Gene

regulatory subunit of type II PKA R-subunit (RIIa) domain...

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RIIAD1 Gene

regulatory subunit of type II PKA R-subunit (RIIa) domain...

Aliasesfor RIIAD1 gene

Summariesfor RIIAD1 gene

Genomic Viewsfor RIIAD1 gene

Proteinsfor RIIAD1 gene

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for RIIAD1 gene

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for RIIAD1 gene

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for RIIAD1 gene

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for RIIAD1 gene

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for RIIAD1 gene

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for RIIAD1 gene

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