AASD1_HUMAN
ID AASD1_HUMAN Reviewed; 412 AA.
AC Q9BTE6; B4DI73;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 06-FEB-2007, sequence version 2.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=Alanyl-tRNA editing protein Aarsd1;
DE AltName: Full=Alanyl-tRNA synthetase domain-containing protein 1;
GN Name=AARSD1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Hippocampus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Neuroblastoma;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-174, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Functions in trans to edit the amino acid moiety from
CC incorrectly charged tRNA(Ala). {ECO:0000250}.
CC -!- COFACTOR:
CC Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000305};
CC Note=Binds 1 zinc ion per subunit. {ECO:0000305};
CC -!- INTERACTION:
CC Q9BTE6-2; Q4LE39-3: ARID4B; NbExp=3; IntAct=EBI-9357295, EBI-11957452;
CC Q9BTE6-2; P63172: DYNLT1; NbExp=3; IntAct=EBI-9357295, EBI-1176455;
CC Q9BTE6-2; Q0VG06-3: FAAP100; NbExp=3; IntAct=EBI-9357295, EBI-10226932;
CC Q9BTE6-2; P58340: MLF1; NbExp=2; IntAct=EBI-9357295, EBI-721328;
CC Q9BTE6-2; Q5MJ09: SPANXN3; NbExp=3; IntAct=EBI-9357295, EBI-12037215;
CC Q9BTE6-2; Q9H8W5-2: TRIM45; NbExp=3; IntAct=EBI-9357295, EBI-11993364;
CC Q9BTE6-2; Q96E35: ZMYND19; NbExp=3; IntAct=EBI-9357295, EBI-746595;
CC Q9BTE6-2; O15231: ZNF185; NbExp=3; IntAct=EBI-9357295, EBI-6874731;
CC Q9BTE6-2; Q96BE0; NbExp=2; IntAct=EBI-9357295, EBI-9356686;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BTE6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BTE6-2; Sequence=VSP_023014;
CC Name=3;
CC IsoId=Q9BTE6-3; Sequence=VSP_043142;
CC -!- MISCELLANEOUS: [Isoform 2]: Based on a readthrough transcript which may
CC produce a PTGES3L-AARSD1 fusion protein. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 3]: Based on a readthrough transcript which may
CC produce a PTGES3L-AARSD1 fusion protein. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the class-II aminoacyl-tRNA synthetase family.
CC Alax-L subfamily. {ECO:0000305}.
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DR EMBL; AK295447; BAG58385.1; -; mRNA.
DR EMBL; CR608238; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC055866; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471152; EAW60903.1; -; Genomic_DNA.
DR EMBL; BC004172; AAH04172.1; -; mRNA.
DR EMBL; BC019324; AAH19324.1; -; mRNA.
DR CCDS; CCDS58552.1; -. [Q9BTE6-1]
DR RefSeq; NP_001129514.2; NM_001136042.2. [Q9BTE6-3]
DR RefSeq; NP_001248363.1; NM_001261434.1. [Q9BTE6-1]
DR RefSeq; NP_079543.1; NM_025267.3. [Q9BTE6-2]
DR AlphaFoldDB; Q9BTE6; -.
DR SMR; Q9BTE6; -.
DR BioGRID; 123290; 138.
DR BioGRID; 3190353; 17.
DR IntAct; Q9BTE6; 166.
DR STRING; 9606.ENSP00000400870; -.
DR GlyGen; Q9BTE6; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BTE6; -.
DR PhosphoSitePlus; Q9BTE6; -.
DR BioMuta; AARSD1; -.
DR DMDM; 125987702; -.
DR REPRODUCTION-2DPAGE; IPI00827636; -.
DR EPD; Q9BTE6; -.
DR jPOST; Q9BTE6; -.
DR MassIVE; Q9BTE6; -.
DR MaxQB; Q9BTE6; -.
DR PaxDb; Q9BTE6; -.
DR PeptideAtlas; Q9BTE6; -.
DR PRIDE; Q9BTE6; -.
DR ProteomicsDB; 78985; -. [Q9BTE6-1]
DR ProteomicsDB; 78986; -. [Q9BTE6-2]
DR ProteomicsDB; 78987; -. [Q9BTE6-3]
DR Antibodypedia; 17173; 92 antibodies from 19 providers.
DR Antibodypedia; 67174; 181 antibodies from 15 providers.
DR DNASU; 80755; -.
DR Ensembl; ENST00000360221.8; ENSP00000353355.4; ENSG00000108825.18. [Q9BTE6-2]
DR Ensembl; ENST00000427569.7; ENSP00000400870.1; ENSG00000266967.7. [Q9BTE6-1]
DR GeneID; 100885850; -.
DR GeneID; 80755; -.
DR KEGG; hsa:100885850; -.
DR KEGG; hsa:80755; -.
DR MANE-Select; ENST00000427569.7; ENSP00000400870.1; NM_001261434.2; NP_001248363.1.
DR UCSC; uc002icd.3; human. [Q9BTE6-1]
DR CTD; 100885850; -.
DR CTD; 80755; -.
DR GeneCards; AARSD1; -.
DR GeneCards; PTGES3L-AARSD1; -.
DR HGNC; HGNC:28417; AARSD1.
DR HGNC; HGNC:43946; PTGES3L-AARSD1.
DR HPA; ENSG00000108825; Tissue enhanced (skeletal muscle, tongue).
DR HPA; ENSG00000266967; Low tissue specificity.
DR MIM; 613212; gene.
DR neXtProt; NX_Q9BTE6; -.
DR OpenTargets; ENSG00000108825; -.
DR OpenTargets; ENSG00000266967; -.
DR PharmGKB; PA142670464; -.
DR VEuPathDB; HostDB:ENSG00000108825; -.
DR VEuPathDB; HostDB:ENSG00000266967; -.
DR eggNOG; KOG2105; Eukaryota.
DR GeneTree; ENSGT00940000156241; -.
DR HOGENOM; CLU_004485_7_0_1; -.
DR InParanoid; Q9BTE6; -.
DR OMA; CMHTSQH; -.
DR OrthoDB; 910848at2759; -.
DR PhylomeDB; Q9BTE6; -.
DR TreeFam; TF323735; -.
DR PathwayCommons; Q9BTE6; -.
DR SignaLink; Q9BTE6; -.
DR BioGRID-ORCS; 100885850; 22 hits in 994 CRISPR screens.
DR BioGRID-ORCS; 80755; 16 hits in 1036 CRISPR screens.
DR Pharos; Q9BTE6; Tdark.
DR PRO; PR:Q9BTE6; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BTE6; protein.
DR Bgee; ENSG00000108825; Expressed in skeletal muscle tissue and 102 other tissues.
DR ExpressionAtlas; Q9BTE6; baseline and differential.
DR Genevisible; Q9BTE6; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0004813; F:alanine-tRNA ligase activity; IEA:InterPro.
DR GO; GO:0005524; F:ATP binding; IEA:InterPro.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR GO; GO:0002196; F:Ser-tRNA(Ala) hydrolase activity; IBA:GO_Central.
DR GO; GO:0006419; P:alanyl-tRNA aminoacylation; IEA:InterPro.
DR GO; GO:0006450; P:regulation of translational fidelity; IBA:GO_Central.
DR InterPro; IPR018165; Ala-tRNA-synth_IIc_core.
DR InterPro; IPR018163; Thr/Ala-tRNA-synth_IIc_edit.
DR InterPro; IPR009000; Transl_B-barrel_sf.
DR InterPro; IPR012947; tRNA_SAD.
DR Pfam; PF07973; tRNA_SAD; 1.
DR SMART; SM00863; tRNA_SAD; 1.
DR SUPFAM; SSF50447; SSF50447; 1.
DR SUPFAM; SSF55186; SSF55186; 1.
DR PROSITE; PS50860; AA_TRNA_LIGASE_II_ALA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Metal-binding; Phosphoprotein;
KW Protein biosynthesis; Reference proteome; Zinc.
FT CHAIN 1..412
FT /note="Alanyl-tRNA editing protein Aarsd1"
FT /id="PRO_0000277465"
FT BINDING 109
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255"
FT BINDING 113
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255"
FT BINDING 209
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255"
FT BINDING 213
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000255"
FT MOD_RES 174
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..13
FT /note="MAFWCQRDSYARE -> MEFCVEDSTDVHVLIEDHRIVFSCKNADGVELYNE
FT IEFYAKVNSKDSQDKRSSRSITCFVRKWKEKVAWPRLTKEDIKPVWLSVDFDNWRDWEG
FT DEEMELAHVEHYAELLKKVSTKRPPPAMDDLD (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023014"
FT VAR_SEQ 1..13
FT /note="MAFWCQRDSYARE -> MFSLPLNCSPDHIRRGSCWGRPQDLKIAAPAWNSK
FT CHPGAGAAMARQHARTLWYDRPRYVFMEFCVEDSTDVHVLIEDHRIVFSCKNADGVELY
FT NEIEFYAKVNSKDSQDKRSSRSITCFVRKWKEKVAWPRLTKEDIKPVWLSVDFDNWRDW
FT EGDEEMELAHVEHYAELLKKVSTKRPPPAMDDLD (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043142"
SQ SEQUENCE 412 AA; 45480 MW; 2E14B6274C6EF897 CRC64;
MAFWCQRDSY AREFTTTVVS CCPAELQTEG SNGKKEVLSG FQVVLEDTVL FPEGGGQPDD
RGTINDISVL RVTRRGEQAD HFTQTPLDPG SQVLVRVDWE RRFDHMQQHS GQHLITAVAD
HLFKLKTTSW ELGRFRSAIE LDTPSMTAEQ VAAIEQSVNE KIRDRLPVNV RELSLDDPEV
EQVSGRGLPD DHAGPIRVVN IEGVDSNMCC GTHVSNLSDL QVIKILGTEK GKKNRTNLIF
LSGNRVLKWM ERSHGTEKAL TALLKCGAED HVEAVKKLQN STKILQKNNL NLLRDLAVHI
AHSLRNSPDW GGVVILHRKE GDSEFMNIIA NEIGSEETLL FLTVGDEKGG GLFLLAGPPA
SVETLGPRVA EVLEGKGAGK KGRFQGKATK MSRRMEAQAL LQDYISTQSA KE
