Q9BTE6 (AASD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Alanyl-tRNA editing protein Aarsd1

Alternative name(s):
Alanyl-tRNA synthetase domain-containing protein 1

Gene names

Name:

AARSD1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	412 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala) By similarity.
Cofactor	Binds 1 zinc ion per subunit Potential.
Subcellular location	Cytoplasm By similarity.
Sequence similarities	Belongs to the class-II aminoacyl-tRNA synthetase family. Alax-L subfamily.

Ontologies

Keywords
Biological process	Protein biosynthesis
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing
Ligand	Metal-binding Zinc
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	alanyl-tRNA aminoacylation Inferred from electronic annotation. Source: InterPro
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ATP binding Inferred from electronic annotation. Source: InterPro alanine-tRNA ligase activity Inferred from electronic annotation. Source: InterPro metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW nucleic acid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BTE6-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9BTE6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MAFWCQRDSYARE → MEFCVEDSTD...RPPPAMDDLD

Note: Based on a readthrough transcript which may produce a PTGES3L-AARSD1 fusion protein. No experimental confirmation available.

Isoform 3 (identifier: Q9BTE6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: MAFWCQRDSYARE → MFSLPLNCSP...RPPPAMDDLD

Note: Based on a readthrough transcript which may produce a PTGES3L-AARSD1 fusion protein. No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 412	412	Alanyl-tRNA editing protein Aarsd1		PRO_0000277465
Sites
	Metal binding	109	1	Zinc Potential
	Metal binding	113	1	Zinc Potential
	Metal binding	209	1	Zinc Potential
	Metal binding	213	1	Zinc Potential
Amino acid modifications
	Modified residue	409	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 13	13	MAFWC…SYARE → MEFCVEDSTDVHVLIEDHRI VFSCKNADGVELYNEIEFYA KVNSKDSQDKRSSRSITCFV RKWKEKVAWPRLTKEDIKPV WLSVDFDNWRDWEGDEEMEL AHVEHYAELLKKVSTKRPPP AMDDLD in isoform 2.		VSP_023014
	Alternative sequence	1 – 13	13	MAFWC…SYARE → MFSLPLNCSPDHIRRGSCWG RPQDLKIAAPAWNSKCHPGA GAAMARQHARTLWYDRPRYV FMEFCVEDSTDVHVLIEDHR IVFSCKNADGVELYNEIEFY AKVNSKDSQDKRSSRSITCF VRKWKEKVAWPRLTKEDIKP VWLSVDFDNWRDWEGDEEME LAHVEHYAELLKKVSTKRPP PAMDDLD in isoform 3.		VSP_043142

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 6, 2007. Version 2. Checksum: 2E14B6274C6EF897	FASTA	412	45,480
	10 20 30 40 50 60 MAFWCQRDSY AREFTTTVVS CCPAELQTEG SNGKKEVLSG FQVVLEDTVL FPEGGGQPDD 70 80 90 100 110 120 RGTINDISVL RVTRRGEQAD HFTQTPLDPG SQVLVRVDWE RRFDHMQQHS GQHLITAVAD 130 140 150 160 170 180 HLFKLKTTSW ELGRFRSAIE LDTPSMTAEQ VAAIEQSVNE KIRDRLPVNV RELSLDDPEV 190 200 210 220 230 240 EQVSGRGLPD DHAGPIRVVN IEGVDSNMCC GTHVSNLSDL QVIKILGTEK GKKNRTNLIF 250 260 270 280 290 300 LSGNRVLKWM ERSHGTEKAL TALLKCGAED HVEAVKKLQN STKILQKNNL NLLRDLAVHI 310 320 330 340 350 360 AHSLRNSPDW GGVVILHRKE GDSEFMNIIA NEIGSEETLL FLTVGDEKGG GLFLLAGPPA 370 380 390 400 410 SVETLGPRVA EVLEGKGAGK KGRFQGKATK MSRRMEAQAL LQDYISTQSA KE
	Isoform 2 [UniParc]. Checksum: 04F376DFD308BC68	FASTA	525	58,753
	10 20 30 40 50 60 MEFCVEDSTD VHVLIEDHRI VFSCKNADGV ELYNEIEFYA KVNSKDSQDK RSSRSITCFV 70 80 90 100 110 120 RKWKEKVAWP RLTKEDIKPV WLSVDFDNWR DWEGDEEMEL AHVEHYAELL KKVSTKRPPP 130 140 150 160 170 180 AMDDLDFTTT VVSCCPAELQ TEGSNGKKEV LSGFQVVLED TVLFPEGGGQ PDDRGTINDI 190 200 210 220 230 240 SVLRVTRRGE QADHFTQTPL DPGSQVLVRV DWERRFDHMQ QHSGQHLITA VADHLFKLKT 250 260 270 280 290 300 TSWELGRFRS AIELDTPSMT AEQVAAIEQS VNEKIRDRLP VNVRELSLDD PEVEQVSGRG 310 320 330 340 350 360 LPDDHAGPIR VVNIEGVDSN MCCGTHVSNL SDLQVIKILG TEKGKKNRTN LIFLSGNRVL 370 380 390 400 410 420 KWMERSHGTE KALTALLKCG AEDHVEAVKK LQNSTKILQK NNLNLLRDLA VHIAHSLRNS 430 440 450 460 470 480 PDWGGVVILH RKEGDSEFMN IIANEIGSEE TLLFLTVGDE KGGGLFLLAG PPASVETLGP 490 500 510 520 RVAEVLEGKG AGKKGRFQGK ATKMSRRMEA QALLQDYIST QSAKE
	Isoform 3 [UniParc]. Checksum: BA9D4A890AA69180	FASTA	586	65,702
	10 20 30 40 50 60 MFSLPLNCSP DHIRRGSCWG RPQDLKIAAP AWNSKCHPGA GAAMARQHAR TLWYDRPRYV 70 80 90 100 110 120 FMEFCVEDST DVHVLIEDHR IVFSCKNADG VELYNEIEFY AKVNSKDSQD KRSSRSITCF 130 140 150 160 170 180 VRKWKEKVAW PRLTKEDIKP VWLSVDFDNW RDWEGDEEME LAHVEHYAEL LKKVSTKRPP 190 200 210 220 230 240 PAMDDLDFTT TVVSCCPAEL QTEGSNGKKE VLSGFQVVLE DTVLFPEGGG QPDDRGTIND 250 260 270 280 290 300 ISVLRVTRRG EQADHFTQTP LDPGSQVLVR VDWERRFDHM QQHSGQHLIT AVADHLFKLK 310 320 330 340 350 360 TTSWELGRFR SAIELDTPSM TAEQVAAIEQ SVNEKIRDRL PVNVRELSLD DPEVEQVSGR 370 380 390 400 410 420 GLPDDHAGPI RVVNIEGVDS NMCCGTHVSN LSDLQVIKIL GTEKGKKNRT NLIFLSGNRV 430 440 450 460 470 480 LKWMERSHGT EKALTALLKC GAEDHVEAVK KLQNSTKILQ KNNLNLLRDL AVHIAHSLRN 490 500 510 520 530 540 SPDWGGVVIL HRKEGDSEFM NIIANEIGSE ETLLFLTVGD EKGGGLFLLA GPPASVETLG 550 560 570 580 PRVAEVLEGK GAGKKGRFQG KATKMSRRME AQALLQDYIS TQSAKE

References

[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Hippocampus.
[2]	"Full-length cDNA libraries and normalization." Li W.B., Gruber C., Jessee J., Polayes D. Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Neuroblastoma.
[3]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Lung.
[6]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK295447 mRNA. Translation: BAG58385.1. CR608238 mRNA. No translation available. AC055866 Genomic DNA. No translation available. CH471152 Genomic DNA. Translation: EAW60903.1. BC004172 mRNA. Translation: AAH04172.1. BC019324 mRNA. Translation: AAH19324.1.
IPI	IPI00748490. IPI00914584. IPI00916940.
RefSeq	NP_001129514.2. NM_001136042.2. NP_001248363.1. NM_001261434.1. NP_079543.1. NM_025267.3.
UniGene	Hs.317403.
3D structure databases
HSSP	HSSP built from PDB template 1EJF based on UniProtKB Q15185.
ProteinModelPortal	Q9BTE6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BTE6. 4 interactions.
STRING	9606.ENSP00000386621.
Polymorphism databases
DMDM	125987702.
2D gel databases
REPRODUCTION-2DPAGE	IPI00827636.
Proteomic databases
PaxDb	Q9BTE6.
PRIDE	Q9BTE6.
Protocols and materials databases
DNASU	80755.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000360221; ENSP00000353355; ENSG00000108825. ENST00000409399; ENSP00000386621; ENSG00000108825. ENST00000421990; ENSP00000409924; ENSG00000108825. ENST00000427569; ENSP00000400870; ENSG00000108825.
GeneID	100885850. 80755.
KEGG	hsa:100885850. hsa:80755.
UCSC	uc002icd.3. human. uc010cyu.1. human.
Organism-specific databases
CTD	100885850. 80755.
GeneCards	GC17M041102. GC17M041103.
HGNC	HGNC:28417. AARSD1. HGNC:43946. PTGES3L-AARSD1.
HPA	HPA021408. HPA022869. HPA023714.
MIM	613212. gene.
neXtProt	NX_Q9BTE6.
PharmGKB	PA142670464.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2872.
HOGENOM	HOG000230967.
HOVERGEN	HBG080017.
InParanoid	Q9BTE6.
KO	K07050.
OMA	GDNEFMN.
Gene expression databases
ArrayExpress	Q9BTE6.
Bgee	Q9BTE6.
CleanEx	HS_AARSD1.
Genevestigator	Q9BTE6.
Family and domain databases
InterPro	IPR018165. Ala-tRNA-synth_IIc_core. IPR018164. Ala-tRNA-synth_IIc_N. IPR018163. Thr/Ala-tRNA-synth_IIc_edit. IPR012947. tRNA_SAD. [Graphical view]
Pfam	PF01411. tRNA-synt_2c. 1 hit. PF07973. tRNA_SAD. 1 hit. [Graphical view]
SMART	SM00863. tRNA_SAD. 1 hit. [Graphical view]
SUPFAM	SSF55186. Thr/Ala-tRNA-synth_IIc_edit. 1 hit.
PROSITE	PS50860. AA_TRNA_LIGASE_II_ALA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	71103.
SOURCE	Search...

Entry information

Entry name

AASD1_HUMAN

Accession

Primary (citable) accession number: Q9BTE6
Secondary accession number(s): B4DI73

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 6, 2007
Last sequence update:	February 6, 2007
Last modified:	May 1, 2013
This is version 101 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.