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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AARSD1 Gene

protein-coding GIFtS: 45
GCID: GC17M041102

alanyl-tRNA synthetase domain containing 1

Explore 2 diseases affiliated with
AARSD1 via

MalaCards

our new
Human Malady Compendium

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

Aliases
Alanyl-TRNA Synthetase Domain Containing 1¹ ²
Alanyl-TRNA Synthetase Domain-Containing Protein 1² ³
MGC2744¹
Alanyl-TRNA Editing Protein Aarsd1²

External Ids:	HGNC: 28417¹	Entrez Gene: 80755²	Ensembl: ENSG00000108825⁷	OMIM: 613212⁵	UniProtKB: Q9BTE6³

Export aliases for AARSD1 gene to outside databases

Previous GC identifers: GC17M038357 GC17M036868

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

UniProtKB/Swiss-Prot: AASD1_HUMAN, Q9BTE6

Function: Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala) (By similarity)

(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

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AARSD1 gene promoter:
RREB-1 AP-2beta Meis-1a AP-2alpha AP-2gamma AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AARSD1 promoter sequence

Search SABiosciences Chromatin IP Primers for AARSD1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AARSD1

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

Entrez Gene cytogenetic band: 17q21.31 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q21.31

AARSD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AARSD1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M041102: view genomic region (about GC identifiers)

Start:	41,102,543 bp from pter	End:	41,132,545 bp from pter
Size:	30,003 bases	Orientation:	minus 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: AASD1_HUMAN, Q9BTE6 (See protein sequence)

Recommended Name: Alanyl-tRNA editing protein Aarsd1

Size: 412 amino acids; 45480 Da

Cofactor: Binds 1 zinc ion per subunit (Potential)

Subcellular location: Cytoplasm (By similarity)

Secondary accessions: B4DI73

Alternative splicing: 3 isoforms: Q9BTE6-1 Q9BTE6-2 Q9BTE6-3 (Based on a readthrough transcript which may produce a PTGES3L-AARSD1 fusion protein. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AARSD1: NX_Q9BTE6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BTE6

AARSD1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001248363.1

ENSEMBL proteins:

ENSP00000353355 ENSP00000386621 ENSP00000386254 ENSP00000409924 ENSP00000393780

ENSP00000393019 ENSP00000407951 ENSP00000400870

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	Uscn Proteins for AARSD1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0005737	cytoplasm	IEA	--

AARSD1 for ontologies About GeneDecksing

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

AARSD1 for domains About GeneDecksing

4 InterPro domains/families:

IPR018163 Thr/Ala-tRNA-synth_IIc_edit

IPR018165 Ala-tRNA-synth_IIc_core

IPR018164 Ala-tRNA-synth_IIc_N

IPR012947 tRNA_SAD

Graphical View of Domain Structure for InterPro Entry Q9BTE6

ProtoNet protein and cluster: Q9BTE6

UniProtKB/Swiss-Prot: AASD1_HUMAN, Q9BTE6

Similarity: Belongs to the class-II aminoacyl-tRNA synthetase family. Alax-L subfamily

(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

Function Summary:

UniProtKB/Swiss-Prot: AASD1_HUMAN, Q9BTE6

Function: Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala) (By similarity)

miRNA Products:		miRTarBase miRNAs that target AARSD1: hsa-let-7b (MIRT001655)

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AARSD1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0003676	nucleic acid binding	IEA	--
GO:0004813	alanine-tRNA ligase activity	IEA	--
GO:0005524	ATP binding	IEA	--
GO:0046872	metal ion binding	IEA	--

AARSD1 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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for AARSD1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/19 Interacting proteins for AARSD1 (Q9BTE6³ ENSP00000386621⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARPC1A	Q92747³	I2D: score=3
ACTR2	P61160³	I2D: score=1
ACTR3B	Q9P1U1³	I2D: score=1
ARPC2	O15144³	I2D: score=1
ARPC3	O15145³	I2D: score=1

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006419	alanyl-tRNA aminoacylation	IEA	--
GO:0008150	biological_process	ND	--

AARSD1 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 AARSD1
Search CenterWatch for drugs/clinical trials and news about AARSD1 / AASD1

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AARSD1 gene:

NM_001261434.1

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

ENST00000360221(uc002icd.3) ENST00000409399 ENST00000409103 ENST00000421990(uc010whg.2)

ENST00000423601 ENST00000452752 ENST00000454303 ENST00000427569

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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AARSD1
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24/223 AceView cDNA sequences (see all 223):

AI287612 AI669256 AI140327 CD368831 CR617160 CR613084 BF588584 CR608238

AI680102 BM803564 AI275613 AI698559 W81432 BF221729 BE465035 BX406721

BU633849 AW268813 CB240971 AI991982 NM_025267 CA426522 AA315994 BC004172

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for AARSD1 (see all 11) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	·	2c	^	3a	·	3b	·	3c	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	^	9	^	10	^	11	^	12a	·	12b	·	12c	^	13	^	14a	·	14b	·	14c	^
SP1:					-						-										-						-		-		-
SP2:																					-
SP3:															-						-
SP4:																					-
SP5:

ExUns:	15a	·	15b	^	16	^	17
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for AARSD1

(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

AARSD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAACTGAAAA

About this image
See AARSD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AARSD1

SABiosciences Custom PCR Arrays for AARSD1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AARSD1

(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 animals.

Orthologs for AARSD1 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	AARSD1¹	alanyl-tRNA synthetase domain containing 1	71.38(n) 74.86(a)		420013 XM_001235321.2 XP_001235322.2
lizard (Anolis carolinensis)	Reptilia	AARSD1⁶	--	74(a)	1 → many	6(62458319-62479605)
African clawed frog (Xenopus laevis)	Amphibia	mgc2744-prov²	hypothetical protein MGC52898	76.96(n)		BC043754.1
zebrafish (Danio rerio)	Actinopterygii	aarsd1⁶	alanyl-tRNA synthetase domain containing 1	61(a)	1 → many	12(6732851-6746824)
fruit fly (Drosophila melanogaster)	Insecta	CG10802⁶	--	41(a)	1 → many	X(3376998-3378588)

ENSEMBL Gene Tree for AARSD1 (if available)
TreeFam Gene Tree for AARSD1 (if available)

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

Paralogs for AARSD1 gene

PTGES3² PTGES3L²

8 SIMAP similar genes for AARSD1 using alignment to 7 protein entries: AASD1_HUMAN (see all proteins):

PTGES3L-AARSD1 TMSB15B NF2 RNF217 AURA2 DCTN5

FKBP3 CHID1

AARSD1 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for AARSD1
PGOHUM00000244762 PGOHUM00000241850

(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 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs142466576^1,2		--	41102157(+)	`TGGCTA/GCTCTG`	3	--	int¹		0	--	--	--	--
rs150215819^1,2		--	41102279(+)	`GGGGCA/GGTAGG`	3	--	int¹		0	--	--	--	--
rs186225039^1,2		--	41102424(+)	`CTAAAC/TATTAC`	3	--	int¹		0	--	--	--	--
rs138596895^1,2		--	41102507(+)	`AGTACA/GAATTA`	3	--	int¹		0	--	--	--	--
rs115603870^1,2		--	41102557(+)	`AATCTA/GTTTTA`	3	--	ut3¹		0	--	--	--	--
rs200712342^1,2	C,	--	41102746(+)	`CCACCA/CTGGGG`	3	--	spa¹		0	--	--	--	--
rs73307503^1,2	C,	--	41102825(+)	`TTTTCC/TAGGGA`	3	--	int¹		1		WA	2
rs149289549^1,2		--	41102854(+)	`GAGTAA/GATGAC`	3	--	int¹		0	--	--	--	--
rs182135494^1,2		--	41102855(+)	`AGTAGA/CTGACT`	3	--	int¹		0	--	--	--	--
rs187517116^1,2		--	41102895(+)	`CATAGA/GCTGGG`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for AARSD1 (41102543 - 41132545 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for AARSD1
1 CNV: 0206
2 Indels: 25844 11882

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AARSD1

DNA2.0 Custom Variant and Variant Library Synthesis for AARSD1

(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

AARSD1 for disorders           About GeneDecksing

OMIM gene information: 613212    OMIM disorders: --

2 diseases for AARSD1:    About MalaCards

breast-ovarian cancer ovarian cancer

Export disorders for AARSD1 gene to outside databases

(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 AARSD1 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with AARSD1)

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

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)¹ Kristensen A.R....Foster L.J. (2012)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Comparative proteomic analysis identifies a role for S UMO in protein quality control. (PubMed id 21693764)¹ Tatham M.H....Hay R.T. (2011)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)

(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: 80755	HGNC: 28417	AceView: MGC2744	Ensembl:ENSG00000108825	euGenes: HUgn80755
ECgene: AARSD1	H-InvDB: AARSD1

(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 AARSD1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for AARSD1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for AARSD1 gene:
Search GeneIP for patents involving AARSD1

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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	Browse OriGene Antibodies		OriGene shRNA RFP for AARSD1
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AARSD1		Browse OriGene genome-wide validated SYBR primer pairs
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AARSD1
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AARSD1
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	GenScript Custom Purified and Recombinant Proteins Services for AARSD1		GenScript cDNA clones with any tag delivered in your preferred vector for AARSD1
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AARSD1

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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AARSD1 Gene

alanyl-tRNA synthetase domain containing 1

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AARSD1 Gene

alanyl-tRNA synthetase domain containing 1

Aliasesfor AARSD1 gene

Summariesfor AARSD1 gene

Genomic Viewsfor AARSD1 gene

Proteinsfor AARSD1 gene

Protein Domains /Familiesfor AARSD1 gene

Functionfor AARSD1 gene

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External Searches for AARSD1 gene

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for AARSD1 gene

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for AARSD1 gene

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for AARSD1 gene

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