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Q9BTE6

- AASD1_HUMAN

UniProt

Q9BTE6 - AASD1_HUMAN

Protein

Alanyl-tRNA editing protein Aarsd1

Gene

AARSD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 2 (06 Feb 2007)
      Previous versions | rss
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    Functioni

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

    Cofactori

    Binds 1 zinc ion per subunit.Curated

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi109 – 1091ZincSequence Analysis
    Metal bindingi113 – 1131ZincSequence Analysis
    Metal bindingi209 – 2091ZincSequence Analysis
    Metal bindingi213 – 2131ZincSequence Analysis

    GO - Molecular functioni

    1. alanine-tRNA ligase activity Source: InterPro
    2. ATP binding Source: InterPro
    3. metal ion binding Source: UniProtKB-KW
    4. nucleic acid binding Source: InterPro
    5. Ser-tRNA(Ala) hydrolase activity Source: Ensembl

    GO - Biological processi

    1. alanyl-tRNA aminoacylation Source: InterPro

    Keywords - Biological processi

    Protein biosynthesis

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alanyl-tRNA editing protein Aarsd1
    Alternative name(s):
    Alanyl-tRNA synthetase domain-containing protein 1
    Gene namesi
    Name:AARSD1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:28417. AARSD1.
    HGNC:43946. PTGES3L-AARSD1.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProt

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142670464.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 412412Alanyl-tRNA editing protein Aarsd1PRO_0000277465Add
    BLAST

    Proteomic databases

    MaxQBiQ9BTE6.
    PaxDbiQ9BTE6.
    PRIDEiQ9BTE6.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00827636.

    Expressioni

    Gene expression databases

    BgeeiQ9BTE6.
    CleanExiHS_AARSD1.
    GenevestigatoriQ9BTE6.

    Organism-specific databases

    HPAiHPA021408.
    HPA022869.
    HPA023714.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Q96BE02EBI-9357295,EBI-9356686

    Protein-protein interaction databases

    BioGridi123290. 33 interactions.
    IntActiQ9BTE6. 119 interactions.
    STRINGi9606.ENSP00000386621.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BTE6.
    SMRiQ9BTE6. Positions 8-247.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG2872.
    HOGENOMiHOG000230967.
    HOVERGENiHBG080017.
    InParanoidiQ9BTE6.
    KOiK07050.
    OMAiGDNEFMN.
    OrthoDBiEOG71RXJT.
    PhylomeDBiQ9BTE6.
    TreeFamiTF323735.

    Family and domain databases

    InterProiIPR018165. Ala-tRNA-synth_IIc_core.
    IPR018164. Ala-tRNA-synth_IIc_N.
    IPR018163. Thr/Ala-tRNA-synth_IIc_edit.
    IPR009000. Transl_B-barrel.
    IPR012947. tRNA_SAD.
    [Graphical view]
    PfamiPF01411. tRNA-synt_2c. 1 hit.
    PF07973. tRNA_SAD. 1 hit.
    [Graphical view]
    SMARTiSM00863. tRNA_SAD. 1 hit.
    [Graphical view]
    SUPFAMiSSF50447. SSF50447. 1 hit.
    SSF55186. SSF55186. 1 hit.
    PROSITEiPS50860. AA_TRNA_LIGASE_II_ALA. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BTE6-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MAFWCQRDSY AREFTTTVVS CCPAELQTEG SNGKKEVLSG FQVVLEDTVL    50
    FPEGGGQPDD RGTINDISVL RVTRRGEQAD HFTQTPLDPG SQVLVRVDWE 100
    RRFDHMQQHS GQHLITAVAD HLFKLKTTSW ELGRFRSAIE LDTPSMTAEQ 150
    VAAIEQSVNE KIRDRLPVNV RELSLDDPEV EQVSGRGLPD DHAGPIRVVN 200
    IEGVDSNMCC GTHVSNLSDL QVIKILGTEK GKKNRTNLIF LSGNRVLKWM 250
    ERSHGTEKAL TALLKCGAED HVEAVKKLQN STKILQKNNL NLLRDLAVHI 300
    AHSLRNSPDW GGVVILHRKE GDSEFMNIIA NEIGSEETLL FLTVGDEKGG 350
    GLFLLAGPPA SVETLGPRVA EVLEGKGAGK KGRFQGKATK MSRRMEAQAL 400
    LQDYISTQSA KE 412
    Length:412
    Mass (Da):45,480
    Last modified:February 6, 2007 - v2
    Checksum:i2E14B6274C6EF897
    GO
    Isoform 2 (identifier: Q9BTE6-2) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:525
    Mass (Da):58,753
    Checksum:i04F376DFD308BC68
    GO
    Isoform 3 (identifier: Q9BTE6-3) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:586
    Mass (Da):65,702
    Checksum:iBA9D4A890AA69180
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1313MAFWC…SYARE → MEFCVEDSTDVHVLIEDHRI VFSCKNADGVELYNEIEFYA KVNSKDSQDKRSSRSITCFV RKWKEKVAWPRLTKEDIKPV WLSVDFDNWRDWEGDEEMEL AHVEHYAELLKKVSTKRPPP AMDDLD in isoform 2. 1 PublicationVSP_023014Add
    BLAST
    Alternative sequencei1 – 1313MAFWC…SYARE → MFSLPLNCSPDHIRRGSCWG RPQDLKIAAPAWNSKCHPGA GAAMARQHARTLWYDRPRYV FMEFCVEDSTDVHVLIEDHR IVFSCKNADGVELYNEIEFY AKVNSKDSQDKRSSRSITCF VRKWKEKVAWPRLTKEDIKP VWLSVDFDNWRDWEGDEEME LAHVEHYAELLKKVSTKRPP PAMDDLD in isoform 3. 1 PublicationVSP_043142Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS58552.1. [Q9BTE6-1]
    RefSeqiNP_001129514.2. NM_001136042.2. [Q9BTE6-3]
    NP_001248363.1. NM_001261434.1. [Q9BTE6-1]
    NP_079543.1. NM_025267.3. [Q9BTE6-2]
    UniGeneiHs.317403.

    Genome annotation databases

    EnsembliENST00000360221; ENSP00000353355; ENSG00000108825. [Q9BTE6-2]
    ENST00000409399; ENSP00000386621; ENSG00000108825. [Q9BTE6-3]
    ENST00000421990; ENSP00000409924; ENSG00000108825. [Q9BTE6-3]
    ENST00000427569; ENSP00000400870; ENSG00000266967. [Q9BTE6-1]
    GeneIDi100885850.
    80755.
    KEGGihsa:100885850.
    hsa:80755.
    UCSCiuc002icd.3. human. [Q9BTE6-2]
    uc010cyu.2. human. [Q9BTE6-1]
    uc010whg.2. human. [Q9BTE6-3]

    Polymorphism databases

    DMDMi125987702.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS58552.1. [Q9BTE6-1 ]
    RefSeqi NP_001129514.2. NM_001136042.2. [Q9BTE6-3 ]
    NP_001248363.1. NM_001261434.1. [Q9BTE6-1 ]
    NP_079543.1. NM_025267.3. [Q9BTE6-2 ]
    UniGenei Hs.317403.

    3D structure databases

    ProteinModelPortali Q9BTE6.
    SMRi Q9BTE6. Positions 8-247.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123290. 33 interactions.
    IntActi Q9BTE6. 119 interactions.
    STRINGi 9606.ENSP00000386621.

    Polymorphism databases

    DMDMi 125987702.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00827636.

    Proteomic databases

    MaxQBi Q9BTE6.
    PaxDbi Q9BTE6.
    PRIDEi Q9BTE6.

    Protocols and materials databases

    DNASUi 80755.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360221 ; ENSP00000353355 ; ENSG00000108825 . [Q9BTE6-2 ]
    ENST00000409399 ; ENSP00000386621 ; ENSG00000108825 . [Q9BTE6-3 ]
    ENST00000421990 ; ENSP00000409924 ; ENSG00000108825 . [Q9BTE6-3 ]
    ENST00000427569 ; ENSP00000400870 ; ENSG00000266967 . [Q9BTE6-1 ]
    GeneIDi 100885850.
    80755.
    KEGGi hsa:100885850.
    hsa:80755.
    UCSCi uc002icd.3. human. [Q9BTE6-2 ]
    uc010cyu.2. human. [Q9BTE6-1 ]
    uc010whg.2. human. [Q9BTE6-3 ]

    Organism-specific databases

    CTDi 100885850.
    80755.
    GeneCardsi GC17M041102.
    GC17M041103.
    HGNCi HGNC:28417. AARSD1.
    HGNC:43946. PTGES3L-AARSD1.
    HPAi HPA021408.
    HPA022869.
    HPA023714.
    MIMi 613212. gene.
    neXtProti NX_Q9BTE6.
    PharmGKBi PA142670464.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2872.
    HOGENOMi HOG000230967.
    HOVERGENi HBG080017.
    InParanoidi Q9BTE6.
    KOi K07050.
    OMAi GDNEFMN.
    OrthoDBi EOG71RXJT.
    PhylomeDBi Q9BTE6.
    TreeFami TF323735.

    Miscellaneous databases

    NextBioi 71103.
    PROi Q9BTE6.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9BTE6.
    CleanExi HS_AARSD1.
    Genevestigatori Q9BTE6.

    Family and domain databases

    InterProi IPR018165. Ala-tRNA-synth_IIc_core.
    IPR018164. Ala-tRNA-synth_IIc_N.
    IPR018163. Thr/Ala-tRNA-synth_IIc_edit.
    IPR009000. Transl_B-barrel.
    IPR012947. tRNA_SAD.
    [Graphical view ]
    Pfami PF01411. tRNA-synt_2c. 1 hit.
    PF07973. tRNA_SAD. 1 hit.
    [Graphical view ]
    SMARTi SM00863. tRNA_SAD. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50447. SSF50447. 1 hit.
    SSF55186. SSF55186. 1 hit.
    PROSITEi PS50860. AA_TRNA_LIGASE_II_ALA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiAASD1_HUMAN
    AccessioniPrimary (citable) accession number: Q9BTE6
    Secondary accession number(s): B4DI73
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 6, 2007
    Last sequence update: February 6, 2007
    Last modified: October 1, 2014
    This is version 114 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3